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	ACHILLES_Top_Genes	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	pox_cutoff	isArtifactMode	oxoGCut
PTCHD2	57540	broad.mit.edu	37	1	11561291	11561291	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:11561291G>A	uc001ash.3	+	2	380	c.242G>A	c.(241-243)GGC>GAC	p.G81D	PTCHD2_uc001asi.1_Missense_Mutation_p.G81D	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	81	Helical; (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTCTTCCTGGGCTGCAGCATC	0.612			NA											11	69					0	0	0.001368	0	0
VPS13D	55187	broad.mit.edu	37	1	12364726	12364726	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:12364726C>T	uc001atv.2	+	26	6521	c.6380C>T	c.(6379-6381)TCC>TTC	p.S2127F	VPS13D_uc001atw.2_Missense_Mutation_p.S2127F|VPS13D_uc001atx.2_Missense_Mutation_p.S1315F	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	2127					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)		CCCAGTACCTCCACCAAGCAG	0.547			NA											6	46					0	0	0.001984	0	0
PUM1	9698	broad.mit.edu	37	1	31532134	31532134	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:31532134C>A	uc001bsi.1	-	2	393	c.280G>T	c.(280-282)GGG>TGG	p.G94W	PUM1_uc001bsh.1_Missense_Mutation_p.G94W|PUM1_uc001bsj.1_Missense_Mutation_p.G94W|PUM1_uc010oga.1_Missense_Mutation_p.G94W|PUM1_uc001bsk.1_Missense_Mutation_p.G130W|PUM1_uc010ogb.1_Missense_Mutation_p.G130W	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	94					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CCTCCTCCCCCAAGCTGCTCA	0.507			NA											16	43					7.07596e-05	8.44318e-05	0.006122	1	0
NFYC	4802	broad.mit.edu	37	1	41215346	41215346	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:41215346C>T	uc001cge.2	+	3	287	c.279C>T	c.(277-279)CGC>CGT	p.R93R	NFYC_uc010ojm.1_Intron|NFYC_uc001cfx.3_Silent_p.R93R|NFYC_uc009vwd.2_Silent_p.R93R|NFYC_uc001cfz.2_Silent_p.R93R|NFYC_uc010ojn.1_Intron|NFYC_uc001cfy.3_Silent_p.R93R|NFYC_uc001cgc.2_Silent_p.R93R|NFYC_uc001cgb.2_Silent_p.R93R|NFYC_uc001cgd.3_Silent_p.R93R	NM_001142588	NP_001136060	Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma isoform 1	93					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|kidney(1)	3	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			ATAACAAGCGCCGGACTCTAC	0.473			NA											32	55					0	0	0.001786	0	0
PLK3	1263	broad.mit.edu	37	1	45270044	45270044	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:45270044A>T	uc001cmn.2	+	12	1476	c.1376A>T	c.(1375-1377)GAG>GTG	p.E459V	PLK3_uc001cmo.2_RNA	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	459						membrane	ATP binding|protein binding|protein serine/threonine kinase activity				0	Acute lymphoblastic leukemia(166;0.155)					GCCCAGCCAGAGCCTCTGGTG	0.617			NA											33	115					0	0	0.003271	0	0
INADL	10207	broad.mit.edu	37	1	62367102	62367102	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:62367102G>A	uc001dab.2	+	24	3466	c.3352G>A	c.(3352-3354)GCA>ACA	p.A1118T	INADL_uc009waf.1_Missense_Mutation_p.A1118T|INADL_uc001daa.2_Missense_Mutation_p.A1118T|INADL_uc001dad.3_Missense_Mutation_p.A815T|INADL_uc001dac.2_RNA	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1118	PDZ 6.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						GAAGACGAACGCACTTAAAAC	0.343			NA											4	20					0	0	0.000248	0	0
BCL10	8915	broad.mit.edu	37	1	85733446	85733446	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:85733446G>C	uc001dkz.2	-	4	1271	c.566C>G	c.(565-567)TCA>TGA	p.S189*		NM_003921	NP_003912	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	189					apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding			lung(2)	2				all cancers(265;0.0114)|Epithelial(280;0.0311)		AAGTGTAGTTGAAGAGAAGAT	0.453	NSCLC(34;993 1034 12176 32621 50182)		NA	T	IGH@	MALT 								8	26					0	0	0.00308	0	0
CLCA4	22802	broad.mit.edu	37	1	87041018	87041018	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:87041018G>T	uc009wcs.2	+	11	1731	c.1687G>T	c.(1687-1689)GGC>TGC	p.G563C	CLCA4_uc009wct.2_Missense_Mutation_p.G326C|CLCA4_uc009wcu.2_Missense_Mutation_p.G383C	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	563						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CTTTTAGGTGGGCACTTGGGC	0.353			NA											7	30					1.26484e-09	1.66751e-09	0.00308	1	0
DPYD	1806	broad.mit.edu	37	1	98187218	98187218	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:98187218C>T	uc001drv.2	-	5	468	c.331G>A	c.(331-333)GGA>AGA	p.G111R	DPYD_uc010oub.1_RNA|DPYD_uc001drw.2_Missense_Mutation_p.G111R	NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	111					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTAGCAGCTCCATAATAGTTC	0.318			NA											5	26					0	0	0.000602	0	0
PALMD	54873	broad.mit.edu	37	1	100152304	100152304	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:100152304G>C	uc001dsg.2	+	4	767	c.324G>C	c.(322-324)AAG>AAC	p.K108N	PALMD_uc001dsf.2_Missense_Mutation_p.K108N	NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	palmdelphin	108					regulation of cell shape	cytoplasm|membrane				ovary(2)|pancreas(1)	3		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CCATTTTAAAGAAACTAAAGT	0.333			NA											3	76					0	0	0.004672	0	0
MYBPHL	343263	broad.mit.edu	37	1	109839703	109839703	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:109839703T>A	uc001dxk.1	-	4	589	c.539A>T	c.(538-540)TAC>TTC	p.Y180F	MYBPHL_uc010ovh.1_Missense_Mutation_p.Y157F|MYBPHL_uc001dxl.2_Intron	NM_001010985	NP_001010985	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	180	Fibronectin type-III.									ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		CTGCACCGTGTATCCCAGAAG	0.577			NA											27	104					0	0	0.005443	0	0
RBM15	64783	broad.mit.edu	37	1	110882411	110882411	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:110882411C>T	uc001dzl.1	+	1	467	c.384C>T	c.(382-384)TCC>TCT	p.S128S	RBM15_uc001dzm.1_Silent_p.S128S|uc001dzj.2_5'Flank	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	128	Gly/Ser-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTTATAGCTCCCCGAGCACCA	0.657			NA	T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	20					0	0	0.004672	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858580	149858580	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:149858580C>A	uc001etd.2	+	1	56	c.56C>A	c.(55-57)TCG>TAG	p.S19*	HIST2H2BE_uc001etc.2_5'Flank	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	19					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AAGTCGCGCTCGTCCCGCGCT	0.637			NA											7	168					1.76689e-08	2.28657e-08	0.006214	1	0
CRNN	49860	broad.mit.edu	37	1	152382721	152382721	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:152382721G>A	uc001ezx.2	-	3	911	c.837C>T	c.(835-837)AGC>AGT	p.S279S		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	cornulin	279	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCACAGCCTGGCTGGTCTGGC	0.607			NA											55	437					0	0	0.00361	0	0
INSRR	3645	broad.mit.edu	37	1	156821927	156821927	+	Missense_Mutation	SNP	C	C	T	rs140347940		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:156821927C>T	uc010pht.1	-	3	948	c.694G>A	c.(694-696)GAA>AAA	p.E232K	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.E232K	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	232					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCAGGCATTCGGTGTGGCAG	0.672			NA											8	54					0	0	0.00308	0	0
NTRK1	4914	broad.mit.edu	37	1	156834552	156834552	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:156834552C>T	uc001fqh.1	+	3	376	c.320C>T	c.(319-321)GCG>GTG	p.A107V	NTRK1_uc001fqf.1_Missense_Mutation_p.A77V|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Missense_Mutation_p.A107V|NTRK1_uc009wsk.1_Missense_Mutation_p.A107V	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	107	LRR 1.|Extracellular (Potential).		A -> V (in an ovarian serous carcinoma sample; somatic mutation).		activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.A107V(1)		lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CGTTTCGTGGCGCCAGATGCC	0.637			NA	T	TPM3|TPR|TFG	papillary thyroid					TSP Lung(10;0.080)			5	67					0	0	0.000602	0	0
OR6K3	391114	broad.mit.edu	37	1	158687287	158687287	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:158687287T>C	uc010pip.1	-	1	667	c.667A>G	c.(667-669)ATC>GTC	p.I223V		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	223	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					AAGGTAATGATGATGGTCACA	0.448			NA											15	120					0	0	0.003163	0	0
NR1I3	9970	broad.mit.edu	37	1	161202597	161202597	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:161202597C>T	uc001fzx.2	-	5	751	c.548G>A	c.(547-549)CGT>CAT	p.R183H	TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Missense_Mutation_p.R183H|NR1I3_uc001fzg.2_Missense_Mutation_p.R154H|NR1I3_uc001fzh.2_Missense_Mutation_p.R154H|NR1I3_uc001fzi.2_Missense_Mutation_p.R154H|NR1I3_uc001fzj.2_Missense_Mutation_p.R154H|NR1I3_uc001fzk.2_Missense_Mutation_p.R154H|NR1I3_uc001fzl.2_Missense_Mutation_p.R154H|NR1I3_uc001fzm.2_Missense_Mutation_p.R108H|NR1I3_uc001fzn.2_Missense_Mutation_p.R16H|NR1I3_uc009wug.2_Missense_Mutation_p.R16H|NR1I3_uc001fzp.2_Missense_Mutation_p.R183H|NR1I3_uc001fzo.2_Missense_Mutation_p.R16H|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_Intron|NR1I3_uc001fzs.2_Missense_Mutation_p.R16H|NR1I3_uc001fzt.2_Missense_Mutation_p.R16H|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_Intron|NR1I3_uc001fzw.2_Missense_Mutation_p.R183H|NR1I3_uc001fzy.2_Missense_Mutation_p.R183H|NR1I3_uc001fzz.2_Missense_Mutation_p.R183H|NR1I3_uc001gaa.2_Missense_Mutation_p.R183H|NR1I3_uc001gab.2_Missense_Mutation_p.R183H|NR1I3_uc001gac.2_Missense_Mutation_p.R154H|NR1I3_uc010pkm.1_Missense_Mutation_p.R154H|NR1I3_uc010pkn.1_Missense_Mutation_p.R183H	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	constitutive androstane receptor isoform 2	183					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(1)|skin(1)	2	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GGTCACTCACCGGAAGACGGG	0.493			NA											11	121					0	0	0.008291	0	0
FMO1	2326	broad.mit.edu	37	1	171254448	171254448	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:171254448C>T	uc009wvz.2	+	9	1500	c.1364C>T	c.(1363-1365)ACG>ATG	p.T455M	FMO1_uc010pme.1_Missense_Mutation_p.T392M|FMO1_uc001ghl.2_Missense_Mutation_p.T455M|FMO1_uc001ghm.2_Missense_Mutation_p.T455M|FMO1_uc001ghn.2_3'UTR	NM_002021	NP_002012	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	455					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGCTCCTAACGGATCCACAT	0.468			NA											9	88					0	0	0.004482	0	0
ASPM	259266	broad.mit.edu	37	1	197112506	197112506	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:197112506C>T	uc001gtu.2	-	3	1133	c.876G>A	c.(874-876)GAG>GAA	p.E292E	ASPM_uc001gtv.2_Silent_p.E292E|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	292					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						GTTTACTATTCTCTCCTCTTT	0.328			NA											4	86					0	0	0.000248	0	0
LHX9	56956	broad.mit.edu	37	1	197886998	197886998	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:197886998C>T	uc001guk.1	+	1	482	c.45C>T	c.(43-45)TTC>TTT	p.F15F	LHX9_uc009wzc.1_Intron|LHX9_uc001gui.1_Intron|LHX9_uc001guj.1_Intron	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1	15					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						CGTGTCCTTTCCGCCCCCCAG	0.592			NA											6	155					0	0	0.001168	0	0
CAMSAP1L1	23271	broad.mit.edu	37	1	200819231	200819231	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:200819231C>G	uc001gvl.2	+	12	3637	c.3367C>G	c.(3367-3369)CTG>GTG	p.L1123V	CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.L1112V|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.L1096V	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	1123						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						AAATGTTAATCTGATTGAAGT	0.408			NA											8	142					0	0	0.006214	0	0
LAX1	54900	broad.mit.edu	37	1	203743399	203743399	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:203743399C>G	uc001haa.2	+	5	1197	c.787C>G	c.(787-789)CAG>GAG	p.Q263E	LAX1_uc010pql.1_Missense_Mutation_p.Q247E|LAX1_uc001hab.2_Missense_Mutation_p.Q187E	NM_017773	NP_060243	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1 isoform a	263	Cytoplasmic (Potential).				B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)	2	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGGTTCTTCTCAGATCTCAAA	0.488			NA											3	46					0	0	0.004672	0	0
NUAK2	81788	broad.mit.edu	37	1	205290688	205290688	+	Silent	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:205290688C>A	uc001hce.2	-	1	196	c.69G>T	c.(67-69)CTG>CTT	p.L23L		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	23					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|stomach(1)|breast(1)	5	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCCCTTCCGCCAGCGGCCGGG	0.682			NA											8	52					0.00307968	0.00346341	0.00308	1	0
ESRRG	2104	broad.mit.edu	37	1	216850650	216850650	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:216850650G>A	uc001hkw.1	-	2	406	c.240C>T	c.(238-240)GAC>GAT	p.D80D	ESRRG_uc001hky.1_Silent_p.D57D|ESRRG_uc009xdp.1_Silent_p.D57D|ESRRG_uc001hkz.1_Silent_p.D57D|ESRRG_uc010puc.1_Silent_p.D57D|ESRRG_uc001hla.1_Silent_p.D57D|ESRRG_uc001hlb.1_Silent_p.D57D|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Silent_p.D57D|ESRRG_uc001hld.1_Silent_p.D57D|ESRRG_uc001hkx.1_Silent_p.D85D|ESRRG_uc009xdo.1_Silent_p.D57D|ESRRG_uc001hle.1_Silent_p.D57D	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	80					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GAGGTGGCGAGTCAAGTCCGT	0.562			NA											22	83					0	0	0.001523	0	0
OBSCN	84033	broad.mit.edu	37	1	228432127	228432127	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:228432127G>C	uc009xez.1	+	11	3380	c.3336G>C	c.(3334-3336)AAG>AAC	p.K1112N	OBSCN_uc001hsn.2_Missense_Mutation_p.K1112N	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1112	Ig-like 11.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGGATGGGAAGAAGCTGAGCT	0.617			NA											12	132					0	0	0.000978	0	0
OBSCN	84033	broad.mit.edu	37	1	228495874	228495874	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:228495874G>T	uc009xez.1	+	47	12573	c.12529G>T	c.(12529-12531)GAG>TAG	p.E4177*	OBSCN_uc001hsn.2_Nonsense_Mutation_p.E4177*	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4177	Ig-like 43.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				TGAGGATGTTGAGTTCAGCTG	0.612			NA											33	45					9.17885e-22	1.3134e-21	0.003271	1	0
DISC1	27185	broad.mit.edu	37	1	231829772	231829772	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:231829772T>A	uc001huz.2	+	2	321	c.268T>A	c.(268-270)TCG>ACG	p.S90T	TSNAX-DISC1_uc010pwe.1_Missense_Mutation_p.S45T|TSNAX-DISC1_uc010pwf.1_Missense_Mutation_p.S45T|TSNAX-DISC1_uc010pwg.1_Missense_Mutation_p.S79T|TSNAX-DISC1_uc010pwh.1_Missense_Mutation_p.S45T|TSNAX-DISC1_uc010pwi.1_Missense_Mutation_p.S45T|TSNAX-DISC1_uc010pwj.1_Missense_Mutation_p.S79T|TSNAX-DISC1_uc010pwk.1_Missense_Mutation_p.S79T|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwo.1_Missense_Mutation_p.S90T|DISC1_uc010pwp.1_Missense_Mutation_p.S90T|DISC1_uc010pwq.1_Missense_Mutation_p.S90T|DISC1_uc010pwr.1_Missense_Mutation_p.S90T|DISC1_uc010pws.1_Missense_Mutation_p.S90T|DISC1_uc010pwt.1_Missense_Mutation_p.S90T|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Missense_Mutation_p.S90T|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Missense_Mutation_p.S90T|DISC1_uc010pxb.1_Missense_Mutation_p.S90T|DISC1_uc010pxc.1_Missense_Mutation_p.S90T|DISC1_uc010pxd.1_5'UTR|DISC1_uc010pxe.1_Missense_Mutation_p.S90T|DISC1_uc009xfr.2_Missense_Mutation_p.S45T|DISC1_uc010pxf.1_Missense_Mutation_p.S90T|DISC1_uc010pxg.1_Missense_Mutation_p.S90T|DISC1_uc010pxh.1_Missense_Mutation_p.S90T|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_5'UTR|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Missense_Mutation_p.S90T|DISC1_uc010pxn.1_5'UTR|DISC1_uc001hva.2_Missense_Mutation_p.S90T|DISC1_uc010pwm.1_Missense_Mutation_p.S90T|DISC1_uc001hux.1_Missense_Mutation_p.S90T|DISC1_uc001hvc.3_Missense_Mutation_p.S90T|DISC1_uc010pwn.1_Missense_Mutation_p.S90T	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L	90	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	p.S90S(1)		skin(1)	1		all_cancers(173;0.0208)|Prostate(94;0.0975)				TGGCCTTGACTCGAGAGGCCT	0.622			NA											7	33					0	0	0.00308	0	0
ZNF496	84838	broad.mit.edu	37	1	247492647	247492647	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:247492647C>T	uc001ico.2	-	3	699	c.234G>A	c.(232-234)AAG>AAA	p.K78K	ZNF496_uc009xgv.2_Silent_p.K78K|ZNF496_uc001icp.2_Silent_p.K78K|ZNF496_uc010pyv.1_Silent_p.K78K	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	zinc finger protein 496	78	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GAATCTGCTCCTTGGTGTGCC	0.711			NA											11	91					0	0	0.008291	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256429	15256429	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr10:15256429C>T	uc001iob.2	-	8	1165	c.1158G>A	c.(1156-1158)GAG>GAA	p.E386E		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	386	Cytoplasmic (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						TGCCGGGGGCCTCGGGGCGGC	0.607			NA											9	38					0	0	0.004482	0	0
ZEB1	6935	broad.mit.edu	37	10	31815845	31815845	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr10:31815845C>A	uc001ivs.3	+	9	3091	c.3028C>A	c.(3028-3030)CAC>AAC	p.H1010N	ZEB1_uc001ivr.3_Missense_Mutation_p.H792N|ZEB1_uc010qee.1_Missense_Mutation_p.H792N|ZEB1_uc010qef.1_Missense_Mutation_p.H792N|ZEB1_uc001ivt.3_Missense_Mutation_p.H792N|ZEB1_uc001ivu.3_Missense_Mutation_p.H1011N|ZEB1_uc001ivv.3_Missense_Mutation_p.H990N|ZEB1_uc010qeh.1_Missense_Mutation_p.H943N|ZEB1_uc009xlp.2_Missense_Mutation_p.H994N	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	1010	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				CTCGAATGAGCACGTGGGTGC	0.488	Ovarian(40;423 959 14296 36701 49589)		NA											10	28					0.000442599	0.000515877	0.006214	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37451585	37451585	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr10:37451585G>T	uc001iza.1	+	16	1840	c.1741G>T	c.(1741-1743)GGG>TGG	p.G581W		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	637						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						AGAGCCTCCGGGGAAGCCATC	0.318			NA											16	65					6.94344e-10	9.29313e-10	0.006122	1	0
NODAL	4838	broad.mit.edu	37	10	72195563	72195563	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr10:72195563C>T	uc001jrc.2	-	2	412	c.370G>A	c.(370-372)GCT>ACT	p.A124T		NM_018055	NP_060525	Q96S42	NODAL_HUMAN	nodal precursor	124					growth	extracellular space	cytokine activity|growth factor activity			large_intestine(1)|kidney(1)	2						CTGTCTGAAGCCTGCTCTGTG	0.567			NA											16	49					0	0	0.00499	0	0
PIPSL	266971	broad.mit.edu	37	10	95720287	95720287	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr10:95720287G>A	uc009xuj.2	-	1	1386	c.867C>T	c.(865-867)AGC>AGT	p.S289S		NR_002319				RecName: Full=Phosphatidylinositol-4-phosphate 5-kinase type-1 alpha;          Short=PtdIns(4)P-5-kinase alpha;          Short=PIP5KIalpha;          EC=2.7.1.68; AltName: Full=Phosphatidylinositol-4-phosphate 5-kinase type I alpha; AltName: Full=68 kDa type I phosphatidylinositol-4-phosphate 5-kinase alpha;												0						ATTGTGTTTCGCTGCTTAAGG	0.488			NA											6	55					0	0	0.001984	0	0
NFKB2	4791	broad.mit.edu	37	10	104161068	104161068	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr10:104161068G>A	uc001kvb.2	+	19	2468	c.2203G>A	c.(2203-2205)GAC>AAC	p.D735N	NFKB2_uc001kva.2_Missense_Mutation_p.D735N|NFKB2_uc001kvd.2_Missense_Mutation_p.D735N|NFKB2_uc009xxc.2_Missense_Mutation_p.D735N	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene	735	ANK 7.		Missing (in truncated form p80HT).|Missing (in truncated form LB40).|Missing (in truncated form EB308).		innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			lung(3)	3		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		CACGCCTCTTGACCTCACTTG	0.597			NA	T	IGH@	B-NHL								10	59					0	0	0.008291	0	0
EIF3A	8661	broad.mit.edu	37	10	120802184	120802184	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr10:120802184G>A	uc001ldu.2	-	19	2994	c.2848C>T	c.(2848-2850)CTT>TTT	p.L950F	EIF3A_uc010qsu.1_Missense_Mutation_p.L916F|EIF3A_uc009xzg.1_5'UTR	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	950	3.|Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TCTGGTCTAAGAGAGGGCTCT	0.582			NA											23	135					0	0	0.001882	0	0
MMP21	118856	broad.mit.edu	37	10	127461230	127461230	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr10:127461230C>T	uc001liu.2	-	3	787	c.787G>A	c.(787-789)GAC>AAC	p.D263N		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	matrix metalloproteinase 21 preproprotein	263					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AAGTGCTCGTCGTCGTCAAAG	0.622			NA											10	50					0	0	0.008291	0	0
Unknown	0	broad.mit.edu	37	10	134648863	134648863	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr10:134648863C>T	uc010qux.1	-	39	5867	c.5867G>A	c.(5866-5868)CGG>CAG	p.R1956Q		NM_017609	NP_060079			Homo sapiens cDNA, FLJ17989.												NA						GGTCTGCTTCCGGAACTGCTG	0.637			NA											7	62					0	0	0.001984	0	0
IRF7	3665	broad.mit.edu	37	11	612770	612770	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:612770C>G	uc001lqh.2	-	11	1757	c.1387G>C	c.(1387-1389)GAG>CAG	p.E463Q	IRF7_uc009ycb.2_Missense_Mutation_p.E357Q|IRF7_uc010qwf.1_Missense_Mutation_p.E462Q|IRF7_uc001lqf.2_Missense_Mutation_p.E170Q|IRF7_uc010qwg.1_Missense_Mutation_p.E170Q|IRF7_uc001lqg.2_Missense_Mutation_p.E476Q|IRF7_uc001lqi.2_Missense_Mutation_p.E434Q|IRF7_uc010qwh.1_Missense_Mutation_p.E170Q	NM_001572	NP_001563	Q92985	IRF7_HUMAN	interferon regulatory factor 7 isoform a	463					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCGTGCCCTCTAGGTGCACT	0.647			NA											3	40					0	0	0.004672	0	0
RRP8	23378	broad.mit.edu	37	11	6622800	6622800	+	Missense_Mutation	SNP	C	C	T	rs142207265	by1000genomes	TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:6622800C>T	uc001med.2	-	3	575	c.496G>A	c.(496-498)GAT>AAT	p.D166N	ILK_uc001mee.2_5'Flank|ILK_uc001mef.2_5'Flank|ILK_uc010rap.1_5'Flank|ILK_uc010raq.1_5'Flank|ILK_uc001meg.2_5'Flank|ILK_uc001meh.2_5'Flank	NM_015324	NP_056139	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase,	166					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity				0						TTTGGTGGATCATTTGTAGTA	0.512			NA											6	78					0	0	0.001168	0	0
EIF4G2	1982	broad.mit.edu	37	11	10822547	10822547	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:10822547C>T	uc001mjc.2	-	15	1918	c.1501G>A	c.(1501-1503)GCA>ACA	p.A501T	EIF4G2_uc001mjb.2_Missense_Mutation_p.A295T|EIF4G2_uc009ygf.2_Missense_Mutation_p.A295T|EIF4G2_uc001mjd.2_Missense_Mutation_p.A463T|EIF4G2_uc001mjf.1_Missense_Mutation_p.A257T	NM_001418	NP_001409	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4	501					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GGTGGTTGTGCACTAGGAGGA	0.418			NA											8	63					0	0	0.004482	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955453	18955453	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:18955453C>A	uc001mpg.2	-	1	1097	c.879G>T	c.(877-879)AGG>AGT	p.R293S		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	293	Cytoplasmic (Potential).				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3						CCTGCAGAGCCCTCTGGAGAA	0.552			NA											12	66					1.08611e-07	1.38518e-07	0.000978	1	0
MPPED2	744	broad.mit.edu	37	11	30557637	30557637	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:30557637C>A	uc001msr.2	-	2	334	c.214G>T	c.(214-216)GGT>TGT	p.G72C	MPPED2_uc001msq.3_Missense_Mutation_p.G72C|MPPED2_uc009yji.2_5'UTR	NM_001584	NP_001575	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	72					nervous system development		hydrolase activity|metal ion binding			skin(1)	1						ATCTGGATACCATCTGTTCTG	0.502			NA											13	21					4.3838e-07	5.57075e-07	0.001855	1	0
RAG1	5896	broad.mit.edu	37	11	36596541	36596541	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:36596541G>T	uc001mwu.3	+	2	1811	c.1687G>T	c.(1687-1689)GAT>TAT	p.D563Y	RAG1_uc001mwt.2_RNA	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	563					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)				GTTCCGCTATGATTCAGCTTT	0.473	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)		NA							Familial_Hemophagocytic_Lymphohistiocytosis				8	42					0.00621372	0.00694358	0.006214	1	0
GYLTL1B	120071	broad.mit.edu	37	11	45949867	45949867	+	Missense_Mutation	SNP	C	C	T	rs150478912		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:45949867C>T	uc001nbv.1	+	13	2005	c.1894C>T	c.(1894-1896)CGC>TGC	p.R632C	GYLTL1B_uc001nbw.1_Missense_Mutation_p.R601C|GYLTL1B_uc001nbx.1_Missense_Mutation_p.R632C|GYLTL1B_uc001nby.1_Missense_Mutation_p.R315C|GYLTL1B_uc001nbz.1_Intron	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	632	Lumenal (Potential).				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.226)		CTATGATCCTCGCTTTGTGGG	0.567			NA											18	153					0	0	0.007413	0	0
LRP4	4038	broad.mit.edu	37	11	46911554	46911554	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:46911554C>T	uc001ndn.3	-	15	2179	c.2033G>A	c.(2032-2034)CGC>CAC	p.R678H		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	678	Extracellular (Potential).|LDL-receptor class B 5.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		GAGTTTGTTGCGAATGATTTC	0.517			NA									OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	82					0	0	0.001855	0	0
MADD	8567	broad.mit.edu	37	11	47306564	47306564	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:47306564C>T	uc001ner.1	+	13	2421	c.2230C>T	c.(2230-2232)CCC>TCC	p.P744S	MADD_uc001neq.2_Missense_Mutation_p.P744S|MADD_uc001nev.1_Missense_Mutation_p.P744S|MADD_uc001nes.1_Missense_Mutation_p.P744S|MADD_uc001net.1_Missense_Mutation_p.P744S|MADD_uc009yln.1_Missense_Mutation_p.P744S|MADD_uc001neu.1_Missense_Mutation_p.P744S|MADD_uc001nex.2_Missense_Mutation_p.P744S|MADD_uc001nez.2_Missense_Mutation_p.P744S|MADD_uc001new.2_Missense_Mutation_p.P744S	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	744					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	p.P744L(1)		ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		TTCCGTGCCTCCCAGCATTGG	0.532			NA											14	63					0	0	0.001855	0	0
MTCH2	23788	broad.mit.edu	37	11	47653245	47653245	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:47653245C>A	uc010rho.1	-	6	577	c.388G>T	c.(388-390)GCT>TCT	p.A130S	MTCH2_uc001nge.2_Missense_Mutation_p.A3S|MTCH2_uc010rhp.1_Intron	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	130	Solcar 2.				transport	integral to membrane|mitochondrial inner membrane					0						GCAGAACGAGCGATCATCTCT	0.428			NA											11	51					6.40141e-05	7.66427e-05	0.000978	1	0
FOLH1	2346	broad.mit.edu	37	11	49196483	49196483	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:49196483A>C	uc001ngy.2	-	9	1327	c.1066T>G	c.(1066-1068)TAC>GAC	p.Y356D	FOLH1_uc001ngz.2_Missense_Mutation_p.Y356D|FOLH1_uc009yly.2_Missense_Mutation_p.Y341D|FOLH1_uc009ylz.2_Missense_Mutation_p.Y341D|FOLH1_uc009yma.2_Missense_Mutation_p.Y48D	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	356	NAALADase.|Extracellular (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)|ovary(1)|skin(1)	3					Capromab(DB00089)|L-Glutamic Acid(DB00142)	ATCACATTGTAAATTCTTGTC	0.254			NA											7	39					0	0	0.00308	0	0
OR4A15	81328	broad.mit.edu	37	11	55136241	55136241	+	Silent	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:55136241C>A	uc010rif.1	+	1	882	c.882C>A	c.(880-882)CCC>CCA	p.P294P		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	294	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CTACTTTTCCCATTGATAAAT	0.403			NA											38	135					1.07637e-12	1.47424e-12	0.004878	1	0
SLC43A1	8501	broad.mit.edu	37	11	57261530	57261530	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:57261530C>G	uc001nkk.2	-	8	925	c.807G>C	c.(805-807)GAG>GAC	p.E269D	SLC43A1_uc001nkl.2_Missense_Mutation_p.E269D	NM_003627	NP_003618	O75387	LAT3_HUMAN	solute carrier family 43, member 1	269					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity				0						CCGAACCGTCCTCCAGGCTGG	0.607			NA									OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	28					0	0	0.00308	0	0
ZBTB3	79842	broad.mit.edu	37	11	62521022	62521022	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:62521022G>C	uc001nuz.2	-	2	387	c.265C>G	c.(265-267)CGG>GGG	p.R89G		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	89	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3						AGCACAGCCCGATGGGCCAAG	0.557			NA											3	40					0	0	0.004672	0	0
C11orf84	144097	broad.mit.edu	37	11	63585711	63585711	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:63585711G>A	uc001nxt.2	+	3	717	c.481G>A	c.(481-483)GAC>AAC	p.D161N		NM_138471	NP_612480	Q9BUA3	CK084_HUMAN	hypothetical protein LOC144097	161	Pro-rich.										0						TGCCCACCCAGACCCAGACGC	0.602			NA											10	87					0	0	0.006214	0	0
DDI1	414301	broad.mit.edu	37	11	103908471	103908471	+	Silent	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:103908471T>A	uc001phr.2	+	1	1164	c.921T>A	c.(919-921)ATT>ATA	p.I307I	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	307					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TAGCTCAGATTCAAATTGAAG	0.473			NA											8	41					0	0	0.004482	0	0
KBTBD3	143879	broad.mit.edu	37	11	105925172	105925172	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:105925172C>T	uc001pja.2	-	4	884	c.244G>A	c.(244-246)GAA>AAA	p.E82K	KBTBD3_uc001pjb.2_Missense_Mutation_p.E82K|KBTBD3_uc009yxm.2_Missense_Mutation_p.E3K	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	BTB and kelch domain containing 3	78	BTB.									ovary(1)|central_nervous_system(1)	2		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		ATGTTTACTTCAAACATAGCC	0.318			NA											4	13					0	0	0.000248	0	0
USP28	57646	broad.mit.edu	37	11	113679033	113679033	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:113679033G>A	uc001poh.2	-	18	2324	c.2291C>T	c.(2290-2292)GCG>GTG	p.A764V	USP28_uc001pog.2_Missense_Mutation_p.A472V|USP28_uc010rwy.1_Missense_Mutation_p.A639V|USP28_uc001poi.2_Missense_Mutation_p.A119V	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	764					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACTCAGTGCCGCTTCTACACC	0.517	Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)		NA											28	104					0	0	0.008361	0	0
SIDT2	51092	broad.mit.edu	37	11	117062658	117062658	+	Silent	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:117062658G>C	uc001pqh.1	+	19	1841	c.1800G>C	c.(1798-1800)CCG>CCC	p.P600P	SIDT2_uc010rxe.1_Silent_p.P600P|SIDT2_uc001pqg.2_Silent_p.P621P|SIDT2_uc001pqi.1_Silent_p.P597P|SIDT2_uc001pqj.1_5'Flank	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	600	Extracellular (Potential).					integral to membrane|lysosomal membrane					0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		AGCGGCACCCGGACATCAACG	0.587			NA											6	75					0	0	0.001984	0	0
ASAM	79827	broad.mit.edu	37	11	122944421	122944421	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:122944421G>A	uc001pyt.2	-	7	1242	c.883C>T	c.(883-885)CGG>TGG	p.R295W		NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN	adipocyte-specific adhesion molecule precursor	295	Ser-rich.|Cytoplasmic (Potential).					integral to membrane|tight junction					0		Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		CGTGAGCTCCGAGAGCCTGAG	0.547			NA											10	73					0	0	0.006214	0	0
OR6T1	219874	broad.mit.edu	37	11	123813876	123813876	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:123813876T>A	uc010sab.1	-	1	670	c.670A>T	c.(670-672)ACT>TCT	p.T224S		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T,	224	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTGAGAACAGTGGCAAGAATG	0.532			NA											6	32					0	0	0.001168	0	0
OR10G7	390265	broad.mit.edu	37	11	123909323	123909323	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:123909323A>T	uc001pzq.1	-	1	386	c.386T>A	c.(385-387)CTC>CAC	p.L129H		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G,	129	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGTGTACCTGAGCGGGTAACT	0.557			NA											24	106					0	0	0.00333	0	0
OR8D1	283159	broad.mit.edu	37	11	124180000	124180000	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:124180000G>C	uc010sag.1	-	1	663	c.663C>G	c.(661-663)ATC>ATG	p.I221M		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D,	221	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TGCTGTAGAGGATGAAGGCAT	0.512			NA											8	20					0	0	0.004482	0	0
PRMT8	56341	broad.mit.edu	37	12	3701483	3701483	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:3701483G>T	uc001qmf.2	+	9	1433	c.1066G>T	c.(1066-1068)GGG>TGG	p.G356W	PRMT8_uc009zed.2_Missense_Mutation_p.G347W|PRMT8_uc001qmg.2_Missense_Mutation_p.G170W|PRMT8_uc001qmh.2_RNA	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	HMT1 hnRNP methyltransferase-like 4	356					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			ovary(3)|central_nervous_system(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GGAAATCTACGGGACCATATC	0.557			NA											24	48					2.70639e-06	3.3544e-06	0.002299	1	0
KCNA6	3742	broad.mit.edu	37	12	4919377	4919377	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:4919377G>A	uc001qng.2	+	1	1036	c.170G>A	c.(169-171)CGC>CAC	p.R57H		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	57						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						ACACAATTGCGCACCCTGTCG	0.652			NA								HNSCC(72;0.22)			5	27					0	0	0.000602	0	0
KCNA1	3736	broad.mit.edu	37	12	5021642	5021642	+	Silent	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:5021642G>T	uc001qnh.2	+	2	2203	c.1098G>T	c.(1096-1098)GCG>GCT	p.A366A		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	366					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCTGGTGGGCGGTGGTGTCCA	0.537			NA											37	114					4.62619e-21	6.59279e-21	0.004289	1	0
ETNK1	55500	broad.mit.edu	37	12	22813996	22813997	+	Splice_Site	DNP	GG	GG	TT			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:22813996_22813997GG>TT	uc001rft.2	+	4	847	c.825_splice	c.e4-1	p.R275_splice	ETNK1_uc009ziz.2_Splice_Site_p.R275_splice	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1 isoform A						phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity				0						AAAACTAAAAGGTTCCTAAGTG	0.351	Esophageal Squamous(42;87 913 3224 6226 43339)		NA											13	19					0	0	0.004672	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	T	rs121913530		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:25398285C>T	uc001rgp.1	-	2	215	c.34G>A	c.(34-36)GGT>AGT	p.G12S	KRAS_uc001rgq.1_Missense_Mutation_p.G12S|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			8	10					0	0	0.00308	0	0
KIF21A	55605	broad.mit.edu	37	12	39763916	39763916	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:39763916G>A	uc001rly.2	-	2	338	c.192C>T	c.(190-192)ATC>ATT	p.I64I	KIF21A_uc001rlx.2_Silent_p.I64I|KIF21A_uc001rlz.2_Silent_p.I64I|KIF21A_uc010skl.1_Silent_p.I64I|KIF21A_uc001rma.1_Silent_p.I64I	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	64	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				ATTGAATGTAGATCTGCTCTT	0.378			NA											10	51					0	0	0.006214	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43825133	43825133	+	Splice_Site	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:43825133A>T	uc010skx.1	-	22	3261	c.3261_splice	c.e22+1	p.P1087_splice	ADAMTS20_uc001rno.1_Splice_Site_p.P241_splice|ADAMTS20_uc001rnp.1_Splice_Site_p.P241_splice	NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with							proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCATATACTCACAGGACCCCA	0.388			NA											12	48					0	0	0.001855	0	0
KRT80	144501	broad.mit.edu	37	12	52567495	52567495	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:52567495C>T	uc001rzx.2	-	5	818	c.720G>A	c.(718-720)ATG>ATA	p.M240I	KRT80_uc001rzw.2_Missense_Mutation_p.M275I|KRT80_uc001rzy.2_Missense_Mutation_p.M240I	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	keratin 80 isoform a	240	Linker 12.|Rod.					keratin filament	structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.108)		AGCGGCTGTCCATGCCGACGG	0.662	GBM(178;2309 2916 15678 35873)		NA											7	52					0	0	0.001984	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54678090	54678090	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:54678090G>C	uc001sfl.2	+	10	1216	c.1112G>C	c.(1111-1113)AGA>ACA	p.R371T	HNRNPA1_uc001sfm.2_Missense_Mutation_p.R319T|HNRNPA1_uc009zng.2_Intron|HNRNPA1_uc009znh.2_Missense_Mutation_p.R319T|HNRNPA1_uc009zni.2_Missense_Mutation_p.R306T|HNRNPA1_uc001sfn.2_Missense_Mutation_p.R266T|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc009znj.1_Missense_Mutation_p.R274T	NM_031157	NP_112420	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	371	Gly-rich.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			skin(2)|ovary(1)	3						AGTGGCAGAAGATTTTAATTA	0.378	Colon(83;502 1289 8436 16406 24870)		NA											9	21					0	0	0.008291	0	0
DGKA	1606	broad.mit.edu	37	12	56333946	56333946	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:56333946G>T	uc001sij.2	+	10	1054	c.790G>T	c.(790-792)GAC>TAC	p.D264Y	DGKA_uc009zoc.1_Missense_Mutation_p.D264Y|DGKA_uc001sih.1_Missense_Mutation_p.D152Y|DGKA_uc001sii.1_Missense_Mutation_p.D122Y|DGKA_uc009zod.1_Missense_Mutation_p.D183Y|DGKA_uc009zoe.1_3'UTR|DGKA_uc001sik.2_Missense_Mutation_p.D264Y|DGKA_uc001sil.2_Missense_Mutation_p.D264Y|DGKA_uc001sim.2_Missense_Mutation_p.D264Y|DGKA_uc001sin.2_Missense_Mutation_p.D264Y|DGKA_uc009zof.2_Intron|DGKA_uc001sio.2_Missense_Mutation_p.R6S	NM_001345	NP_001336	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	264					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)	GTCTCGGAAGGACATTGGTGT	0.572			NA									OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	60					2.48551e-13	3.44448e-13	0.00499	1	0
NAV3	89795	broad.mit.edu	37	12	78515721	78515721	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:78515721T>A	uc001syp.2	+	16	3924	c.3751T>A	c.(3751-3753)TTG>ATG	p.L1251M	NAV3_uc001syo.2_Missense_Mutation_p.L1251M|NAV3_uc010sub.1_Missense_Mutation_p.L751M|NAV3_uc009zsf.2_Intron	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1251	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						TTCTTTTAGGTTGTTTGGTGC	0.433			NA								HNSCC(70;0.22)			3	21					0	0	0.004672	0	0
DCN	1634	broad.mit.edu	37	12	91572199	91572199	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:91572199C>T	uc001tbs.2	-	1	225	c.131G>A	c.(130-132)CGC>CAC	p.R44H	DCN_uc001tbo.2_Missense_Mutation_p.R44H|DCN_uc001tbp.2_Missense_Mutation_p.R44H|DCN_uc001tbq.2_Missense_Mutation_p.R44H|DCN_uc001tbr.2_Missense_Mutation_p.R44H|DCN_uc001tbt.2_Missense_Mutation_p.R44H|DCN_uc001tbu.2_Missense_Mutation_p.R44H	NM_133503	NP_598010	P07585	PGS2_HUMAN	decorin isoform a preproprotein	44					organ morphogenesis	extracellular space				central_nervous_system(2)|ovary(1)|lung(1)	4						CTCGAAGTCGCGGTCATCAGG	0.532			NA									OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	89					0	0	0.00499	0	0
NCOR2	9612	broad.mit.edu	37	12	124821386	124821386	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:124821386C>G	uc010tay.1	-	40	6214	c.6058G>C	c.(6058-6060)GCG>CCG	p.A2020P	NCOR2_uc010taz.1_Missense_Mutation_p.A2004P|NCOR2_uc010tax.1_Missense_Mutation_p.A131P	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 1	2021					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCAGGTGGCGCCGGCGGGTCC	0.662			NA											5	23					0	0	0.000602	0	0
RNF17	56163	broad.mit.edu	37	13	25417962	25417962	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr13:25417962A>G	uc001upr.2	+	20	2725	c.2684A>G	c.(2683-2685)CAC>CGC	p.H895R	RNF17_uc010tdd.1_Missense_Mutation_p.H754R|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.H895R|RNF17_uc001ups.2_Missense_Mutation_p.H834R|RNF17_uc010aac.2_Missense_Mutation_p.H93R|RNF17_uc010aad.2_5'UTR	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	895					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AATGAAGTACACAACTTAAAT	0.313			NA											4	18					0	0	0.000248	0	0
ABCC4	10257	broad.mit.edu	37	13	95723952	95723952	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr13:95723952C>T	uc001vmd.3	-	25	3293	c.3174G>A	c.(3172-3174)CTG>CTA	p.L1058L	ABCC4_uc010afk.2_Silent_p.L1011L	NM_005845	NP_005836	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C, member 4	1058	ABC transporter 2.|Helical; (Potential).				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			central_nervous_system(3)|skin(1)	4	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TCAGATGCTTCAGTACCAGAG	0.438			NA											7	78					0	0	0.001984	0	0
NALCN	259232	broad.mit.edu	37	13	101759838	101759838	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr13:101759838G>T	uc001vox.1	-	22	2768	c.2579C>A	c.(2578-2580)GCA>GAA	p.A860E		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	860	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTGTACTTACGCGTTGAAGCG	0.502			NA											10	57					7.48243e-07	9.47415e-07	0.006214	1	0
FAM70B	348013	broad.mit.edu	37	13	114504650	114504650	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr13:114504650T>A	uc001vuh.2	+	7	561	c.534T>A	c.(532-534)TAT>TAA	p.Y178*		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	family with sequence similarity 70, member B	178						integral to membrane					0	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			CCGCCTACTATGAGTTCATCG	0.627			NA											5	19					0	0	0.001168	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216239	20216239	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:20216239C>A	uc010tkt.1	+	1	653	c.653C>A	c.(652-654)TCT>TAT	p.S218Y		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	218	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTACTATTCTCTTATGCTATC	0.507			NA											8	71					1.26484e-09	1.66751e-09	0.00308	1	0
OR4N2	390429	broad.mit.edu	37	14	20296152	20296152	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:20296152C>T	uc010tkv.1	+	1	545	c.545C>T	c.(544-546)CCA>CTA	p.P182L		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	182	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTGATGTCCCACAGGTCATC	0.537			NA											39	154					0	0	0.007835	0	0
CHD8	57680	broad.mit.edu	37	14	21871246	21871246	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:21871246C>A	uc001was.1	-	18	2901	c.2807G>T	c.(2806-2808)GGT>GTT	p.G936V	CHD8_uc001war.1_Missense_Mutation_p.G832V|CHD8_uc001wav.1_Missense_Mutation_p.G378V	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1215	Helicase C-terminal.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AAGATTAATACCAAGTCCACC	0.478			NA											8	46					0.000274275	0.000321816	0.004482	1	0
BAZ1A	11177	broad.mit.edu	37	14	35245502	35245502	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:35245502G>C	uc001wsk.2	-	18	3024	c.2456C>G	c.(2455-2457)TCT>TGT	p.S819C	BAZ1A_uc001wsl.2_Missense_Mutation_p.S787C	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	819	Interaction with SMARCA5.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TCCAGGAATAGAAGGGAAAAT	0.408			NA											3	49					0	0	0.004672	0	0
LRFN5	145581	broad.mit.edu	37	14	42356775	42356775	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:42356775C>A	uc001wvm.2	+	3	2145	c.947C>A	c.(946-948)CCT>CAT	p.P316H	LRFN5_uc010ana.2_Missense_Mutation_p.P316H	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	316	Extracellular (Potential).|Ig-like.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GACCCTGAGCCTGCAATTCAC	0.463			NA								HNSCC(30;0.082)			19	25					8.00594e-06	9.81913e-06	0.007413	1	0
PTGDR	5729	broad.mit.edu	37	14	52734683	52734683	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:52734683C>T	uc001wzq.2	+	1	253	c.151C>T	c.(151-153)CGG>TGG	p.R51W		NM_000953	NP_000944	Q13258	PD2R_HUMAN	prostaglandin D2 receptor	51	Cytoplasmic (Potential).					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GTGGTGCTCGCGGCGTCCACT	0.701			NA											7	26					0	0	0.001984	0	0
ERH	2079	broad.mit.edu	37	14	69847288	69847288	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:69847288G>A	uc001xlc.2	-	4	353	c.282C>T	c.(280-282)CTC>CTT	p.L94L		NM_004450	NP_004441	P84090	ERH_HUMAN	enhancer of rudimentary homolog	94					cell cycle|pyrimidine nucleoside metabolic process	midbody	protein binding				0				all cancers(60;0.00365)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0507)		GCCGACGAAGGAGCACGTAGA	0.507			NA											17	59					0	0	0.007413	0	0
SNW1	22938	broad.mit.edu	37	14	78189553	78189553	+	Silent	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:78189553C>G	uc001xuf.2	-	11	1128	c.1101G>C	c.(1099-1101)CGG>CGC	p.R367R	SNW1_uc010tvm.1_Silent_p.R292R|SNW1_uc010asu.2_Silent_p.R205R|SNW1_uc010tvn.1_Silent_p.R367R	NM_012245	NP_036377	Q13573	SNW1_HUMAN	SKI-interacting protein	367					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TGGAAAGATTCCGGTCATGCT	0.383			NA											13	80					0	0	0.00245	0	0
NRXN3	9369	broad.mit.edu	37	14	79454429	79454429	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:79454429G>T	uc001xun.2	+	12	2579	c.2088G>T	c.(2086-2088)GAG>GAT	p.E696D	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.E821D	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	1069	EGF-like 3.|Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AACAATGGGAGGGCTTCACCT	0.443			NA											10	28					9.70103e-10	1.29347e-09	0.008291	1	0
KIAA1409	57578	broad.mit.edu	37	14	94084571	94084571	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:94084571C>A	uc001ybv.1	+	27	3876	c.3793C>A	c.(3793-3795)CTG>ATG	p.L1265M	KIAA1409_uc001ybs.1_Missense_Mutation_p.L1243M	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1420						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		CAGCAAGATCCTGCTGCATCT	0.438			NA											8	29					5.4927e-09	7.18748e-09	0.004482	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102474660	102474660	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:102474660C>T	uc001yks.2	+	29	6127	c.5963C>T	c.(5962-5964)CCC>CTC	p.P1988L		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	1988	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						CATTCCAACCCCAACTACGAC	0.473			NA											8	32					0	0	0.006214	0	0
INF2	64423	broad.mit.edu	37	14	105169539	105169539	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:105169539C>T	uc001ypb.2	+	3	632	c.489C>T	c.(487-489)GAC>GAT	p.D163D	INF2_uc010tyi.1_Silent_p.D163D|INF2_uc001ypc.2_Silent_p.D163D|INF2_uc001yoy.3_Silent_p.D163D|INF2_uc001ypa.2_Silent_p.D163D	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	163	GBD/FH3.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TGACCCTGGACGCCCTGGACC	0.662			NA											8	53					0	0	0.00308	0	0
AKT1	207	broad.mit.edu	37	14	105239420	105239420	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:105239420C>A	uc001ypk.2	-	11	1521	c.967G>T	c.(967-969)GAC>TAC	p.D323Y	INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Missense_Mutation_p.D323Y|AKT1_uc010axa.2_Missense_Mutation_p.D323Y|AKT1_uc001ypm.2_Missense_Mutation_p.D323Y|AKT1_uc001ypn.2_Missense_Mutation_p.D323Y|AKT1_uc001ypj.2_5'Flank|AKT1_uc010tyk.1_Missense_Mutation_p.D261Y	NM_005163	NP_005154	P31749	AKT1_HUMAN	AKT1 kinase	323	Protein kinase.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			breast(86)|urinary_tract(12)|thyroid(10)|lung(7)|endometrium(5)|large_intestine(4)|skin(4)|prostate(3)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	134		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TAGTCATTGTCCTCCAGCACC	0.632			1	Mis		breast|colorectal|ovarian|NSCLC								7	41					8.12818e-05	9.6334e-05	0.001984	1	0
ADAM6	8755	broad.mit.edu	37	14	106919436	106919436	+	Splice_Site	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:106919436A>T	uc010tyt.1	-	242		c.10445_splice	c.e242+1		uc010tyu.1_Intron					Parts of antibodies, mostly variable regions.												0						TCGGGGACCCACCCAGGCTGT	0.582			NA											11	30					0	0	0.000978	0	0
SNURF	8926	broad.mit.edu	37	15	25213175	25213175	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr15:25213175A>T	uc001ywu.2	+	3	333	c.207A>T	c.(205-207)AGA>AGT	p.R69S	SNRPN_uc001ywp.1_5'UTR|SNRPN_uc001ywq.1_5'UTR|SNRPN_uc001ywr.1_5'UTR|SNRPN_uc001yws.1_Intron|SNRPN_uc001ywt.1_5'UTR|SNRPN_uc001ywv.1_5'UTR|SNRPN_uc001yww.1_5'UTR|SNRPN_uc001ywx.1_5'UTR|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_RNA|SNRPN_uc001ywy.1_Missense_Mutation_p.R69S	NM_022804	NP_073715	Q9Y675	SNURF_HUMAN	SNRPN upstream reading frame protein	69						nucleus					0		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		AGACACCAAGAGGTGGTTAAA	0.458			NA											6	36					0	0	0.001168	0	0
Unknown	0	broad.mit.edu	37	15	28599954	28599954	+	Silent	SNP	A	A	G	rs144345425	by1000genomes	TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr15:28599954A>G	uc010uaf.1	-	4	306	c.288T>C	c.(286-288)CTT>CTC	p.L96L						SubName: Full=Putative uncharacterized protein ENSP00000383535; Flags: Fragment;												NA						GGCTGTAGTAAAGTGCCATCT	0.478			NA											3	19					0	0	0.000248	0	0
EXD1	161829	broad.mit.edu	37	15	41482169	41482169	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr15:41482169C>T	uc001znk.2	-	9	1039	c.848G>A	c.(847-849)CGC>CAC	p.R283H	EXD1_uc001znj.2_Missense_Mutation_p.R81H|EXD1_uc010ucv.1_Missense_Mutation_p.R341H	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	283					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			ovary(1)	1						AGACCCTTCGCGATACGTGTT	0.542			NA											11	73					0	0	0.001368	0	0
SLTM	79811	broad.mit.edu	37	15	59192029	59192029	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr15:59192029T>A	uc002afp.2	-	7	785	c.697A>T	c.(697-699)ACG>TCG	p.T233S	SLTM_uc002afo.2_Missense_Mutation_p.T215S|SLTM_uc002afq.2_Intron|SLTM_uc010bgd.2_Intron|SLTM_uc002afr.1_Missense_Mutation_p.T132S	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	233	Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						TTCACAGTCGTATGAGCTTCC	0.473			NA											10	57					0	0	0.000978	0	0
SLTM	79811	broad.mit.edu	37	15	59192032	59192032	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr15:59192032G>A	uc002afp.2	-	7	782	c.694C>T	c.(694-696)CAT>TAT	p.H232Y	SLTM_uc002afo.2_Missense_Mutation_p.H214Y|SLTM_uc002afq.2_Intron|SLTM_uc010bgd.2_Intron|SLTM_uc002afr.1_Missense_Mutation_p.H131Y	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	232	Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						ACAGTCGTATGAGCTTCCATC	0.473			NA											11	59					0	0	0.000978	0	0
C15orf42	90381	broad.mit.edu	37	15	90166906	90166906	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr15:90166906G>C	uc002boe.2	+	20	3365	c.3365G>C	c.(3364-3366)AGA>ACA	p.R1122T	C15orf42_uc010upv.1_RNA	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1122					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			ACTACACCAAGAAGGATCTCT	0.413			NA											5	168					0	0	0.000602	0	0
ANPEP	290	broad.mit.edu	37	15	90328672	90328672	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr15:90328672C>A	uc002bop.3	-	21	3104	c.2812G>T	c.(2812-2814)GAG>TAG	p.E938*		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	938	Extracellular.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			ovary(3)|skin(1)	4	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	AGGGCTTGCTCCAGGGCCCGG	0.552	NSCLC(30;827 977 2459 19669 26125)		NA											21	91					5.26018e-13	7.26111e-13	0.001882	1	0
PRSS22	64063	broad.mit.edu	37	16	2903248	2903248	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr16:2903248G>C	uc002cry.1	-	6	866	c.800C>G	c.(799-801)GCC>GGC	p.A267G	PRSS22_uc002crz.1_Missense_Mutation_p.A157G	NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	protease, serine, 22 precursor	267	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)	1						GTTGCGCTCGGCACAGCCCTC	0.716			NA											6	17					0	0	0.001984	0	0
CREBBP	1387	broad.mit.edu	37	16	3817818	3817818	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr16:3817818C>G	uc002cvv.2	-	16	3357	c.3153G>C	c.(3151-3153)AAG>AAC	p.K1051N	CREBBP_uc002cvw.2_Missense_Mutation_p.K1013N	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1051					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTTCAGGTTTCTTTTCATCCA	0.433			NA	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybsyndrome				3	87					0	0	0.004672	0	0
CLEC16A	23274	broad.mit.edu	37	16	11038605	11038605	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr16:11038605G>A	uc002dao.2	+	1	261	c.31G>A	c.(31-33)GGG>AGG	p.G11R	CLEC16A_uc002dan.3_Missense_Mutation_p.G11R|DEXI_uc002dal.2_5'Flank	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	11										ovary(1)|central_nervous_system(1)	2						CTGGGTGGGCGGGGGCCATGG	0.711			NA											3	12					0	0	0.004672	0	0
UMOD	7369	broad.mit.edu	37	16	20347991	20347991	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr16:20347991T>A	uc002dgz.2	-	9	1928	c.1799A>T	c.(1798-1800)AAC>ATC	p.N600I	UMOD_uc002dha.2_Missense_Mutation_p.N600I|UMOD_uc002dhb.2_Missense_Mutation_p.N633I	NM_003361	NP_003352	P07911	UROM_HUMAN	uromodulin precursor	600					cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			ovary(1)|skin(1)	2						GGGACCCAAGTTCAGGACACG	0.527			NA											18	31					0	0	0.00278	0	0
CACNG3	10368	broad.mit.edu	37	16	24366257	24366257	+	Silent	SNP	C	C	T	rs147734423		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr16:24366257C>T	uc002dmf.2	+	3	1599	c.399C>T	c.(397-399)AAC>AAT	p.N133N		NM_006539	NP_006530	O60359	CCG3_HUMAN	voltage-dependent calcium channel gamma-3	133					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0				GBM - Glioblastoma multiforme(48;0.0809)		GCAGACACAACGTCATTCTCA	0.587			NA											7	51					0	0	0.004482	0	0
TNRC6A	27327	broad.mit.edu	37	16	24762097	24762097	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr16:24762097A>C	uc002dmm.2	+	3	218	c.104A>C	c.(103-105)AAA>ACA	p.K35T		NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	35	Potential.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		aaaaagaaaaaagacgacaag	0.199			NA											3	21					0	0	0.004672	0	0
ZNF276	92822	broad.mit.edu	37	16	89799734	89799734	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr16:89799734C>A	uc002fos.3	+	7	1291	c.1194C>A	c.(1192-1194)AGC>AGA	p.S398R	ZNF276_uc010ciq.2_Missense_Mutation_p.S184R|ZNF276_uc002fop.2_Missense_Mutation_p.S306R|ZNF276_uc002foq.3_Missense_Mutation_p.S323R|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_Missense_Mutation_p.S184R|ZNF276_uc010cis.2_Missense_Mutation_p.S157R|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_Missense_Mutation_p.S236R|ZNF276_uc010cit.1_Missense_Mutation_p.S157R	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	zinc finger protein 276 isoform a	398					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)		AGAGTGAAAGCAAAGAAGCCA	0.448			NA											14	93					0.000219431	0.000258327	0.00245	1	0
SMYD4	114826	broad.mit.edu	37	17	1703946	1703946	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:1703946C>T	uc002ftm.3	-	5	910	c.742G>A	c.(742-744)GTT>ATT	p.V248I	SMYD4_uc002ftn.1_Missense_Mutation_p.V103I	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	248							zinc ion binding			skin(3)|kidney(2)	5						TTTGTGGCAACGAGACAGCGA	0.517			NA											14	104					0	0	0.004007	0	0
SMG6	23293	broad.mit.edu	37	17	2202976	2202976	+	Silent	SNP	T	T	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:2202976T>C	uc002fub.1	-	2	1126	c.1071A>G	c.(1069-1071)GAA>GAG	p.E357E	SMG6_uc002fud.1_Silent_p.E326E	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	357	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			central_nervous_system(2)|lung(1)|kidney(1)	4						TGTTCATGGCTTCTGCATCGA	0.498	Melanoma(59;28 1088 11621 25887 46638 50814)		NA											16	60					0	0	0.003163	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4446343	4446343	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:4446343G>A	uc002fyb.3	-	20	2819	c.2757C>T	c.(2755-2757)ACC>ACT	p.T919T	MYBBP1A_uc002fxz.3_Silent_p.T919T|MYBBP1A_uc002fya.3_5'Flank|MYBBP1A_uc010vsa.1_5'UTR	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	919					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2						GGTAGAGGGCGGTGGGGGAGT	0.667			NA											13	95					0	0	0.004007	0	0
KIAA0753	9851	broad.mit.edu	37	17	6531765	6531765	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:6531765C>T	uc002gde.3	-	3	749	c.390G>A	c.(388-390)CAG>CAA	p.Q130Q	KIAA0753_uc010clo.2_5'UTR|KIAA0753_uc010vte.1_5'UTR	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	hypothetical protein LOC9851	130						centrosome					0				COAD - Colon adenocarcinoma(228;0.157)		GTCCACACTTCTGAGAGCTTT	0.433			NA											4	41					0	0	0.000602	0	0
TP53	7157	broad.mit.edu	37	17	7578500	7578500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:7578500G>A	uc002gim.2	-	5	624	c.430C>T	c.(430-432)CAG>TAG	p.Q144*	TP53_uc002gig.1_Nonsense_Mutation_p.Q144*|TP53_uc002gih.2_Nonsense_Mutation_p.Q144*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q12*|TP53_uc010cng.1_Nonsense_Mutation_p.Q12*|TP53_uc002gii.1_Nonsense_Mutation_p.Q12*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q144*|TP53_uc010cni.1_Nonsense_Mutation_p.Q144*|TP53_uc002gij.2_Nonsense_Mutation_p.Q144*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.Q51*|TP53_uc002gio.2_Nonsense_Mutation_p.Q12*|TP53_uc010vug.1_Nonsense_Mutation_p.Q105*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	144	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q -> P (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in sporadic cancers; 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.Q144*(29)|p.Q144L(8)|p.0?(7)|p.Q144H(4)|p.Q144P(4)|p.Q144R(4)|p.Q144fs*26(3)|p.Q144K(2)|p.Q144del(2)|p.Q144Q(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.V143_S149del(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)		ACCCACAGCTGCACAGGGCAG	0.597	Pancreas(47;798 1329 9957 10801)		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-Fraumensyndrome|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	36					0	0	0.004482	0	0
AURKB	9212	broad.mit.edu	37	17	8109862	8109862	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:8109862C>A	uc002gkm.2	-	7	694	c.633G>T	c.(631-633)AAG>AAT	p.K211N	AURKB_uc010cnu.2_Missense_Mutation_p.K31N|AURKB_uc002gkn.2_Missense_Mutation_p.K212N|AURKB_uc010vuu.1_Missense_Mutation_p.K170N|AURKB_uc002gko.2_RNA	NM_004217	NP_004208	Q96GD4	AURKB_HUMAN	aurora kinase B	211	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(1)|central_nervous_system(1)	4						TCAGCTCTCCCTTGAGCCCTA	0.547	NSCLC(134;1161 2470 43664 51568)		NA											11	31					1.08611e-07	1.38518e-07	0.000978	1	0
NCRNA00188	125144	broad.mit.edu	37	17	16342531	16342531	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:16342531G>C	uc002gqc.2	+	1	231	c.76G>C	c.(76-78)GTG>CTG	p.V26L	NCRNA00188_uc010vwf.1_Intron|NCRNA00188_uc010vwg.1_Intron|NCRNA00188_uc010vwh.1_Intron|NCRNA00188_uc010cpd.2_Intron|NCRNA00188_uc002gqb.3_Intron|NCRNA00188_uc010vwi.1_Intron|NCRNA00188_uc010vwj.1_Intron|NCRNA00188_uc002gqa.3_Intron|NCRNA00188_uc010vwk.1_Intron|NCRNA00188_uc010vwl.1_Intron|NCRNA00188_uc010vwm.1_Intron|NCRNA00188_uc010vwn.1_Intron|NCRNA00188_uc010cpe.2_Intron|NCRNA00188_uc010vwo.1_Intron|NCRNA00188_uc010vwp.1_Intron|SNORD49B_uc010cpf.2_5'Flank|SNORD49A_uc010cpg.1_5'Flank|SNORD65_uc002gqf.1_5'Flank	NR_027667				RecName: Full=Putative uncharacterized protein C17orf45, mitochondrial; Flags: Precursor;												0						CTGCGCCCGCGTGGCTTTCGC	0.687	Pancreas(170;1717 2016 9057 29149 45168)		NA											8	45					0	0	0.006214	0	0
SPAG5	10615	broad.mit.edu	37	17	26925630	26925630	+	Silent	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:26925630A>T	uc002hbq.2	-	2	167	c.75T>A	c.(73-75)CCT>CCA	p.P25P	SGK494_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	25					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			central_nervous_system(1)	1	Lung NSC(42;0.00431)					GTTCACGGAGAGGAGTTCTCA	0.587			NA											9	38					0	0	0.008291	0	0
TMEM132E	124842	broad.mit.edu	37	17	32957127	32957127	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:32957127C>G	uc002hif.2	+	6	1497	c.1169C>G	c.(1168-1170)TCC>TGC	p.S390C		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	390	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		CTGGACATCTCCGCCCTAGTG	0.572			NA											4	29					0	0	0.000248	0	0
AOC3	8639	broad.mit.edu	37	17	41004733	41004733	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:41004733C>T	uc002ibv.2	+	1	1533	c.1373C>T	c.(1372-1374)ACG>ATG	p.T458M		NM_003734	NP_003725	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3 precursor	458	Extracellular (Potential).				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CTTGCGGAAACGGTGCTGGTC	0.527	NSCLC(3;192 220 10664 11501 16477)		NA											10	82					0	0	0.008291	0	0
SLC4A1	6521	broad.mit.edu	37	17	42337806	42337806	+	Nonsense_Mutation	SNP	C	C	A	rs55708136		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:42337806C>A	uc002igf.3	-	6	600	c.451G>T	c.(451-453)GAG>TAG	p.E151*	SLC4A1_uc002igg.3_Nonsense_Mutation_p.E151*	NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	151	Cytoplasmic.				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGCAGCTCCTCTCGGTCCTGA	0.607			NA											9	19					1.12685e-05	1.37726e-05	0.004482	1	0
WNT9B	7484	broad.mit.edu	37	17	44952530	44952530	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:44952530G>A	uc002ikw.1	+	3	435	c.398G>A	c.(397-399)CGG>CAG	p.R133Q	WNT9B_uc002ikx.1_Missense_Mutation_p.R133Q	NM_003396	NP_003387	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family,	133					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding	p.R133W(1)		lung(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.0257)			ACCCTGGCCCGGGCCTGCAGC	0.637			NA											8	199					0	0	0.00308	0	0
DNAI2	64446	broad.mit.edu	37	17	72301535	72301536	+	Missense_Mutation	DNP	CG	CG	TT			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:72301535_72301536CG>TT	uc002jkf.2	+	9	1264_1265	c.1165_1166CG>TT	c.(1165-1167)CGC>TTC	p.R389F	DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|uc002jkh.1_3'UTR|DNAI2_uc002jki.2_RNA	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	389	WD 4.				cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3						CTGGACAGCCCGCATTTGGTCT	0.594			NA							Kartagener_syndrome				16	30					0	0	0.004672	0	0
ENGASE	64772	broad.mit.edu	37	17	77077994	77077994	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:77077994C>T	uc002jwv.2	+	7	895	c.887C>T	c.(886-888)TCC>TTC	p.S296F	ENGASE_uc002jwu.1_Missense_Mutation_p.S296F|ENGASE_uc010wtz.1_Missense_Mutation_p.S110F|ENGASE_uc002jww.2_5'UTR	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	296	BRCT.					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			skin(1)	1						TTCTTTGATTCCTGCGACGGC	0.622			NA											11	122					0	0	0.000978	0	0
DSC3	1825	broad.mit.edu	37	18	28588469	28588469	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr18:28588469C>A	uc002kwj.3	-	10	1441	c.1286G>T	c.(1285-1287)CGT>CTT	p.R429L	DSC3_uc002kwi.3_Missense_Mutation_p.R429L	NM_001941	NP_001932	Q14574	DSC3_HUMAN	desmocollin 3 isoform Dsc3a preproprotein	429	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			ovary(2)|skin(2)	4			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GTTCACTTGACGGTTTTCTTC	0.388			NA											3	32					0.004672	0.0052374	0.004672	1	0
ASXL3	80816	broad.mit.edu	37	18	31323805	31323805	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr18:31323805T>A	uc010dmg.1	+	12	4048	c.3993T>A	c.(3991-3993)AGT>AGA	p.S1331R	ASXL3_uc002kxq.2_Missense_Mutation_p.S1038R	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1331	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						GCAGTGCTAGTAACTTAGTCT	0.463			NA											56	99					0	0	0.00361	0	0
MUC16	94025	broad.mit.edu	37	19	9089456	9089456	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:9089456T>A	uc002mkp.2	-	1	2563	c.2359A>T	c.(2359-2361)AAT>TAT	p.N787Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	787	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GAAGTTGCATTTCTGACTCTT	0.507			NA											26	127					0	0	0.005443	0	0
STX10	8677	broad.mit.edu	37	19	13260564	13260564	+	Silent	SNP	G	G	C	rs143886134		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:13260564G>C	uc010xnb.1	-	2	183	c.183C>G	c.(181-183)CTC>CTG	p.L61L	STX10_uc002mwn.2_5'Flank|STX10_uc002mwo.2_5'Flank|STX10_uc010xna.1_5'Flank|STX10_uc010xnc.1_Missense_Mutation_p.S10W|IER2_uc002mwr.2_5'Flank	NM_003765	NP_003756	O60499	STX10_HUMAN	syntaxin 10	61	Cytoplasmic (Potential).|Potential.				Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			CCAGGTCCTCGAGGTCCCACT	0.652			NA									OREG0025290	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	78					0	0	0.004672	0	0
EMR3	84658	broad.mit.edu	37	19	14736360	14736360	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:14736360C>G	uc002mzi.3	-	15	2012	c.1864G>C	c.(1864-1866)GAG>CAG	p.E622Q	EMR3_uc010dzp.2_Missense_Mutation_p.E570Q|EMR3_uc010xnv.1_Missense_Mutation_p.E496Q	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	egf-like module-containing mucin-like receptor	622	Cytoplasmic (Potential).				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(5)|skin(1)	6						GTCTCAGACTCAGATTTTGAT	0.388			NA											10	71					0	0	0.000978	0	0
EMR2	30817	broad.mit.edu	37	19	14866474	14866474	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:14866474A>G	uc002mzp.1	-	13	1864	c.1408T>C	c.(1408-1410)TCC>CCC	p.S470P	EMR2_uc010dzs.1_Intron|EMR2_uc010xnw.1_Missense_Mutation_p.S470P|EMR2_uc002mzo.1_Missense_Mutation_p.S459P|EMR2_uc002mzq.1_Missense_Mutation_p.S410P|EMR2_uc002mzr.1_Missense_Mutation_p.S421P|EMR2_uc002mzs.1_Missense_Mutation_p.S328P|EMR2_uc002mzt.1_Missense_Mutation_p.S366P|EMR2_uc002mzu.1_Missense_Mutation_p.S377P|EMR2_uc010xnx.1_Intron|EMR2_uc010xny.1_Intron	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone	470	Extracellular (Potential).				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			lung(2)|ovary(1)|skin(1)	4						ACACGGTGGGAGAAGGTGAAG	0.587			NA											9	89					0	0	0.004482	0	0
ARMC6	93436	broad.mit.edu	37	19	19168365	19168365	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:19168365C>T	uc002nld.2	+	9	1782	c.1434C>T	c.(1432-1434)GCC>GCT	p.A478A	ARMC6_uc002nlc.2_Silent_p.A453A|ARMC6_uc010xql.1_Silent_p.A385A|ARMC6_uc002nle.2_Silent_p.A453A|ARMC6_uc010xqm.1_Silent_p.A478A	NM_033415	NP_219483	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	478							protein binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CCAAGGCCGCCCTGCGGGACC	0.672			NA											11	58					0	0	0.000978	0	0
GMIP	51291	broad.mit.edu	37	19	19753363	19753363	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:19753363C>T	uc002nnd.2	-	2	202	c.85G>A	c.(85-87)GAA>AAA	p.E29K	GMIP_uc010xrb.1_Missense_Mutation_p.E29K|GMIP_uc010xrc.1_Missense_Mutation_p.E29K	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	29					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						AGTGAGATTTCGAGGTTGTCC	0.567			NA											25	117					0	0	0.004656	0	0
ZNF99	7652	broad.mit.edu	37	19	22940023	22940023	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:22940023C>A	uc010xrh.1	-	6	2308	c.2308G>T	c.(2308-2310)GGG>TGG	p.G770W		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGTTTCTTCCCAGTATAAATT	0.373			NA											7	38					2.0095e-06	2.50831e-06	0.001984	1	0
ZNF254	9534	broad.mit.edu	37	19	24309344	24309344	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:24309344C>T	uc002nru.2	+	4	676	c.542C>T	c.(541-543)TCT>TTT	p.S181F	ZNF254_uc010xrk.1_Missense_Mutation_p.S96F	NM_203282	NP_975011	O75437	ZN254_HUMAN	zinc finger protein 254	181					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GAAAAGAAATCTTTCAAATGT	0.284			NA											9	71					0	0	0.006214	0	0
ZNF507	22847	broad.mit.edu	37	19	32845809	32845809	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:32845809C>G	uc002nte.2	+	3	2345	c.2073C>G	c.(2071-2073)CAC>CAG	p.H691Q	ZNF507_uc002ntc.2_Missense_Mutation_p.H691Q|ZNF507_uc010xrn.1_Missense_Mutation_p.H691Q|ZNF507_uc002ntd.2_Missense_Mutation_p.H691Q	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	691	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(110;0.162)					TGATCCACCACTGTAAGACAA	0.398			NA											6	28					0	0	0.001168	0	0
SUPT5H	6829	broad.mit.edu	37	19	39957358	39957358	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:39957358A>G	uc002olo.3	+	13	1189	c.1010A>G	c.(1009-1011)CAG>CGG	p.Q337R	SUPT5H_uc002olp.3_Missense_Mutation_p.Q337R|SUPT5H_uc002olq.3_Missense_Mutation_p.Q333R|SUPT5H_uc002oln.3_Missense_Mutation_p.Q337R|SUPT5H_uc002olr.3_Missense_Mutation_p.Q337R|SUPT5H_uc002ols.1_5'Flank	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	337	Interaction with RNA polymerase II.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGGCCTCCACAGAGGCTGTTT	0.577			NA											16	65					0	0	0.004007	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50453257	50453257	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:50453257C>T	uc010ybh.1	-	11	2158	c.2067G>A	c.(2065-2067)GAG>GAA	p.E689E	SIGLEC11_uc010ybi.1_Silent_p.E593E	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11 isoform 1	689	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|central_nervous_system(2)|pancreas(1)	6		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		ACATCTCCCTCTCCAATTGAA	0.597			NA											6	17					0	0	0.001168	0	0
ZNF677	342926	broad.mit.edu	37	19	53741564	53741564	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:53741564G>C	uc002qbf.1	-	5	601	c.416C>G	c.(415-417)TCC>TGC	p.S139C	ZNF677_uc002qbg.1_Missense_Mutation_p.S139C	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	zinc finger protein 677	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00352)		ATGTATTGAGGATTTATTATG	0.333			NA											12	32					0	0	0.000978	0	0
LILRB3	11025	broad.mit.edu	37	19	54726852	54726852	+	Translation_Start_Site	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:54726852G>A	uc002qef.1	-	1	108	c.-3C>T	c.(-5--1)GACGC>GATGC		LILRB3_uc002qee.1_Translation_Start_Site|LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Intron|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Intron|LILRA6_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Intron|LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Intron|LILRA6_uc010yeq.1_Intron	NM_006864	NP_006855	O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor,						cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			skin(2)|ovary(1)	3	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCGTCATGGCGTCTCCTCCCG	0.642			NA											6	56					0	0	0.001168	0	0
LILRB5	10990	broad.mit.edu	37	19	54758820	54758820	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:54758820G>A	uc002qex.2	-	6	1144	c.1033C>T	c.(1033-1035)CAG>TAG	p.Q345*	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Nonsense_Mutation_p.Q336*|LILRB5_uc002qey.2_Nonsense_Mutation_p.Q345*|LILRB5_uc002qez.2_Nonsense_Mutation_p.Q245*|LILRB5_uc002qfa.1_Nonsense_Mutation_p.Q235*|LILRB5_uc010yes.1_RNA	NM_006840	NP_006831	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	345	Ig-like C2-type 4.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGCCATGACTGACACAGCAGG	0.567			NA											4	41					0	0	0.000248	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55607673	55607673	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:55607673G>A	uc002qix.2	-	7	998	c.982C>T	c.(982-984)CGG>TGG	p.R328W	PPP1R12C_uc010yfs.1_Missense_Mutation_p.R254W|PPP1R12C_uc002qiy.2_Missense_Mutation_p.R328W	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	328	Potential.					cytoplasm				ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TCCTGGCCCCGGCTCTGGGAA	0.647			NA											25	95					0	0	0.005443	0	0
PXDN	7837	broad.mit.edu	37	2	1642712	1642712	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:1642712G>A	uc002qxa.2	-	21	4176	c.4112C>T	c.(4111-4113)TCA>TTA	p.S1371L		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1371					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCTGAAGGCTGAGGTGCTGTT	0.527			NA											5	68					0	0	0.000602	0	0
RNASEH1	246243	broad.mit.edu	37	2	3596650	3596650	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:3596650G>T	uc002qxt.2	-	5	652	c.562C>A	c.(562-564)CAT>AAT	p.H188N	RNASEH1_uc002qxs.2_Missense_Mutation_p.H71N	NM_002936	NP_002927	O60930	RNH1_HUMAN	ribonuclease H1	188	RNase H.				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		TAACTTACATGAATTTCCGCT	0.308			NA											5	195					0.000602214	0.000695015	0.000602	1	0
APOB	338	broad.mit.edu	37	2	21224710	21224710	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:21224710G>A	uc002red.2	-	29	13712	c.13584C>T	c.(13582-13584)TAC>TAT	p.Y4528Y		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	4528					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAAATGTGTGGTAGTTTTGAA	0.363			NA											23	75					0	0	0.001882	0	0
APOB	338	broad.mit.edu	37	2	21231013	21231013	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:21231013C>G	uc002red.2	-	26	8855	c.8727G>C	c.(8725-8727)GAG>GAC	p.E2909D		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2909					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTGTCTTGATCTCGTTGCGCA	0.468			NA											14	146					0	0	0.003163	0	0
CDKL4	344387	broad.mit.edu	37	2	39414782	39414782	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:39414782C>G	uc002rrm.2	-	6	721	c.721G>C	c.(721-723)GAG>CAG	p.E241Q	CDKL4_uc010fal.1_Missense_Mutation_p.E241Q	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	241	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			ovary(1)	1		all_hematologic(82;0.248)				TCTTCTGGCTCAGGTATACTG	0.303			NA											4	33					0	0	0.000248	0	0
CDKL4	344387	broad.mit.edu	37	2	39431698	39431698	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:39431698T>A	uc002rrm.2	-	4	424	c.424A>T	c.(424-426)ATT>TTT	p.I142F	CDKL4_uc010fal.1_Missense_Mutation_p.I142F	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	142	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			ovary(1)	1		all_hematologic(82;0.248)				AAGTCACAAATCTTGATTATT	0.279			NA											3	29					0	0	0.000248	0	0
SIX2	10736	broad.mit.edu	37	2	45235795	45235795	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:45235795C>A	uc002ruo.2	-	1	748	c.455G>T	c.(454-456)CGC>CTC	p.R152L	SIX2_uc002rup.2_Missense_Mutation_p.R152L	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	152	Homeobox.					nucleus	sequence-specific DNA binding transcription factor activity			pancreas(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACGCTTCTCGCGGGGTGAAGG	0.667			NA											18	82					9.16793e-09	1.19523e-08	0.00499	1	0
CCDC88A	55704	broad.mit.edu	37	2	55562132	55562132	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:55562132C>G	uc002ryv.2	-	15	2667	c.1825G>C	c.(1825-1827)GAA>CAA	p.E609Q	CCDC88A_uc010yoz.1_Missense_Mutation_p.E609Q|CCDC88A_uc010ypa.1_Missense_Mutation_p.E609Q|CCDC88A_uc010ypb.1_Missense_Mutation_p.E511Q|CCDC88A_uc002ryu.2_5'UTR|CCDC88A_uc002ryw.2_5'UTR	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	609	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						TGTCTTTTTTCAAATTCAATC	0.289			NA											2	16					0	0	0.004672	0	0
ALMS1	7840	broad.mit.edu	37	2	73675658	73675658	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:73675658C>T	uc002sje.1	+	10	2118	c.2007C>T	c.(2005-2007)TCC>TCT	p.S669S	ALMS1_uc002sjf.1_Silent_p.S625S|ALMS1_uc002sjg.2_Silent_p.S55S|ALMS1_uc002sjh.1_Silent_p.S55S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	667	3.|34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						CCTCTACATCCCACTCACATG	0.493			NA											4	105					0	0	0.000248	0	0
THNSL2	55258	broad.mit.edu	37	2	88484874	88484874	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:88484874G>T	uc002ssz.3	+	8	1258	c.1105G>T	c.(1105-1107)GTG>TTG	p.V369L	THNSL2_uc002ssv.2_Intron|THNSL2_uc002ssw.3_Intron|THNSL2_uc002ssx.3_Intron|THNSL2_uc002sta.3_Intron|THNSL2_uc002ssy.3_Missense_Mutation_p.V369L|THNSL2_uc010fhe.2_Intron	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2	369					threonine biosynthetic process		threonine synthase activity			ovary(1)	1						ATCCGTGTCAGTGTCGGATGA	0.572			NA											11	40					1.61879e-10	2.20006e-10	0.001368	1	0
MRPS5	64969	broad.mit.edu	37	2	95766250	95766250	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:95766250C>A	uc002sub.2	-	10	1118	c.900G>T	c.(898-900)AGG>AGT	p.R300S	MRPS5_uc002suc.2_RNA	NM_031902	NP_114108	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	300					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	p.R300K(1)		ovary(2)|central_nervous_system(1)	3						TGATATGCGTCCTTTTAAATC	0.333			NA											15	44					7.93312e-07	1.00088e-06	0.00245	1	0
GALNT5	11227	broad.mit.edu	37	2	158115947	158115947	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:158115947G>T	uc002tzg.2	+	1	1608	c.1353G>T	c.(1351-1353)AAG>AAT	p.K451N	GALNT5_uc010zci.1_RNA	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	N-acetylgalactosaminyltransferase 5	451	Lumenal (Potential).				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(3)|skin(1)	4						CCCATGGAAAGGAGAAGGAGG	0.498			NA											7	72					1.06961e-07	1.3741e-07	0.00308	1	0
SCN3A	6328	broad.mit.edu	37	2	165997469	165997469	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:165997469G>A	uc002ucx.2	-	13	2203	c.1711C>T	c.(1711-1713)CGC>TGC	p.R571C	SCN3A_uc002ucy.2_Missense_Mutation_p.R571C|SCN3A_uc002ucz.2_Missense_Mutation_p.R571C|SCN3A_uc002uda.1_Missense_Mutation_p.R440C|SCN3A_uc002udb.1_Missense_Mutation_p.R440C	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	571						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	TTGCTATTGCGTCTTGGGGAA	0.443			NA											6	45					0	0	0.001168	0	0
SCN9A	6335	broad.mit.edu	37	2	167085246	167085246	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:167085246C>T	uc010fpl.2	-	22	4469	c.4128G>A	c.(4126-4128)GTG>GTA	p.V1376V	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1387	III.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	TATCAAAGTTCACTTTCAGGT	0.398			NA											5	127					0	0	0.001168	0	0
XIRP2	129446	broad.mit.edu	37	2	167760139	167760139	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:167760139G>A	uc002udx.2	+	1	165	c.147G>A	c.(145-147)GAG>GAA	p.E49E	XIRP2_uc010fpn.2_Silent_p.E49E|XIRP2_uc010fpo.2_Silent_p.E49E|XIRP2_uc010fpp.2_Silent_p.E49E	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	Error:Variant_position_missing_in_A4UGR9_after_alignment					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						CTGAAGGAGAGGTAGTATCAG	0.488			NA											6	41					0	0	0.001984	0	0
DHRS9	10170	broad.mit.edu	37	2	169938262	169938262	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:169938262C>T	uc002uep.2	+	5	1675	c.171C>T	c.(169-171)ATC>ATT	p.I57I	DHRS9_uc002ueq.2_Silent_p.I57I|DHRS9_uc010zdc.1_Silent_p.I117I|DHRS9_uc002uer.1_Silent_p.I57I|DHRS9_uc010zdd.1_Silent_p.I57I|DHRS9_uc010zde.1_Silent_p.I57I	NM_005771	NP_005762	Q9BPW9	DHRS9_HUMAN	NADP-dependent retinol dehydrogenase/reductase	57	NAD (By similarity).				9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity				0						TTCATGTAATCGCTGCCTGTC	0.433			NA											20	39					0	0	0.008871	0	0
TTN	7273	broad.mit.edu	37	2	179406266	179406266	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:179406266C>T	uc010zfg.1	-	299	90058	c.89834G>A	c.(89833-89835)CGT>CAT	p.R29945H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R23640H|TTN_uc010zfi.1_Missense_Mutation_p.R23573H|TTN_uc010zfj.1_Missense_Mutation_p.R23448H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30872							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)			CATGCCATCACGGGAAACATC	0.458			NA											6	16					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179427449	179427449	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:179427449C>T	uc010zfg.1	-	275	75930	c.75706G>A	c.(75706-75708)GAA>AAA	p.E25236K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E18931K|TTN_uc010zfi.1_Missense_Mutation_p.E18864K|TTN_uc010zfj.1_Missense_Mutation_p.E18739K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26163							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)			TCTCGTTTTTCGACAATGTAG	0.358			NA											14	35					0	0	0.001855	0	0
ITGA4	3676	broad.mit.edu	37	2	182347286	182347286	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:182347286G>T	uc002unu.2	+	9	1712	c.949G>T	c.(949-951)GCA>TCA	p.A317S	ITGA4_uc010zfl.1_Missense_Mutation_p.A317S	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	317	Potential.|FG-GAP 5.|Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GGACCTCAATGCAGATGGCTT	0.498			NA											21	191					2.32416e-17	3.28556e-17	0.002299	1	0
PLCL1	5334	broad.mit.edu	37	2	198949565	198949565	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:198949565G>A	uc010fsp.2	+	2	1615	c.1324G>A	c.(1324-1326)GTT>ATT	p.V442I	PLCL1_uc002uuv.3_Missense_Mutation_p.V363I	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	442	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	CTGTCGAAGCGTTGAACTCGA	0.408			NA											4	53					0	0	0.000248	0	0
KCTD18	130535	broad.mit.edu	37	2	201355337	201355337	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:201355337C>T	uc002uvs.2	-	7	1284	c.767G>A	c.(766-768)CGA>CAA	p.R256Q	KCTD18_uc002uvt.2_Missense_Mutation_p.R256Q	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain	256						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1						CGTTATCAGTCGCCTAGAAAT	0.393			NA											4	51					0	0	0.000248	0	0
AOX1	316	broad.mit.edu	37	2	201515740	201515740	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:201515740A>T	uc002uvx.2	+	26	2992	c.2891A>T	c.(2890-2892)TAC>TTC	p.Y964F	AOX1_uc010zhf.1_Missense_Mutation_p.Y520F|AOX1_uc010fsu.2_Missense_Mutation_p.Y330F	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	964					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CAAACACCCTACAAACAAGAG	0.403			NA											13	58					0	0	0.001855	0	0
CHPF	79586	broad.mit.edu	37	2	220404493	220404493	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:220404493A>G	uc002vmc.3	-	4	2167	c.1940T>C	c.(1939-1941)TTC>TCC	p.F647S	CHPF_uc010zlh.1_Missense_Mutation_p.F485S	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	647	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding				0		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGCTGGGTGGAAGGCTTGGAA	0.662			NA											7	87					0	0	0.001984	0	0
COL4A3	1285	broad.mit.edu	37	2	228148568	228148568	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:228148568G>C	uc002vom.1	+	33	2904	c.2742G>C	c.(2740-2742)CAG>CAC	p.Q914H	COL4A3_uc002von.1_Missense_Mutation_p.Q914H|COL4A3_uc002voo.1_Missense_Mutation_p.Q914H|COL4A3_uc002vop.1_Missense_Mutation_p.Q914H|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	914	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CACCAGGGCAGAGGGGTAAGT	0.448			NA											7	62					0	0	0.001984	0	0
PLCB1	23236	broad.mit.edu	37	20	8717773	8717773	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr20:8717773G>T	uc002wnb.2	+	20	2145	c.2142G>T	c.(2140-2142)AAG>AAT	p.K714N	PLCB1_uc010zrb.1_Missense_Mutation_p.K613N|PLCB1_uc002wna.2_Missense_Mutation_p.K714N|PLCB1_uc002wnc.1_Missense_Mutation_p.K613N|PLCB1_uc002wnd.1_Missense_Mutation_p.K291N	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	714	C2.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						AGGCATTTAAGACCAAAACAT	0.388			NA											11	38					0.000978159	0.0011179	0.000978	1	0
FLRT3	23767	broad.mit.edu	37	20	14306548	14306548	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr20:14306548C>T	uc002wov.1	-	3	2072	c.1605G>A	c.(1603-1605)GGG>GGA	p.G535G	MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Silent_p.G535G	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	535	Helical; (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			kidney(1)	1		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GGGCCACAGCCCCACCAATGA	0.473			NA											4	78					0	0	0.000248	0	0
KIF16B	55614	broad.mit.edu	37	20	16352372	16352372	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr20:16352372G>A	uc002wpg.1	-	21	3543	c.3385C>T	c.(3385-3387)CGC>TGC	p.R1129C	KIF16B_uc002wpe.1_Missense_Mutation_p.R511C|KIF16B_uc002wpf.1_Missense_Mutation_p.R511C|KIF16B_uc010gch.1_Missense_Mutation_p.R1078C|KIF16B_uc010gci.1_Missense_Mutation_p.R1129C	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	1129					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						TCCTGAAGGCGTCTTTGGACT	0.438			NA											6	44					0	0	0.001168	0	0
RRBP1	6238	broad.mit.edu	37	20	17640864	17640864	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr20:17640864G>A	uc010zrq.1	-	3	643	c.289C>T	c.(289-291)CGA>TGA	p.R97*	RRBP1_uc002wpu.2_5'Flank|RRBP1_uc002wpv.1_Nonsense_Mutation_p.R97*|RRBP1_uc002wpw.1_Nonsense_Mutation_p.R97*|RRBP1_uc010gcl.1_Intron|RRBP1_uc010zrr.1_Nonsense_Mutation_p.R97*			Q9P2E9	RRBP1_HUMAN	SubName: Full=RRBP1 protein; Flags: Fragment;	97	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						ACTGGTTCTCGAAGGAGGACA	0.458			NA											5	19					0	0	0.000602	0	0
SLC12A5	57468	broad.mit.edu	37	20	44664453	44664453	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr20:44664453C>T	uc010zxl.1	+	4	462	c.386C>T	c.(385-387)CCG>CTG	p.P129L	SLC12A5_uc002xra.2_Missense_Mutation_p.P106L|SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.P106L	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	129	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTGTACCTGCCGTGCCTGCAG	0.597			NA											4	28					0	0	0.000602	0	0
CDH22	64405	broad.mit.edu	37	20	44806630	44806630	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr20:44806630G>A	uc002xrm.2	-	10	2271	c.1870C>T	c.(1870-1872)CCC>TCC	p.P624S	CDH22_uc010ghk.1_Missense_Mutation_p.P624S	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	624	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				AGGGCGCCGGGGCTGAGGGAG	0.652			NA											8	26					0	0	0.00308	0	0
ZNFX1	57169	broad.mit.edu	37	20	47886812	47886812	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr20:47886812C>G	uc002xui.2	-	3	1784	c.1537G>C	c.(1537-1539)GAG>CAG	p.E513Q		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	513							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTGTAGGCCTCAAAGTATGCA	0.522			NA											5	58					0	0	0.000602	0	0
ZBP1	81030	broad.mit.edu	37	20	56188371	56188371	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr20:56188371C>G	uc002xyo.2	-	5	799	c.518G>C	c.(517-519)AGA>ACA	p.R173T	ZBP1_uc010gjm.2_Missense_Mutation_p.R172T|ZBP1_uc002xyp.2_Missense_Mutation_p.R98T|ZBP1_uc010zzn.1_Missense_Mutation_p.R173T	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1 isoform a	173						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			ovary(2)	2	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TGACTTTGCTCTTCTTCCAGA	0.343			NA											4	77					0	0	0.000602	0	0
CTSZ	1522	broad.mit.edu	37	20	57576612	57576612	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr20:57576612C>A	uc002yai.2	-	3	521	c.395G>T	c.(394-396)TGT>TTT	p.C132F	CTSZ_uc002yaj.3_Missense_Mutation_p.C132F	NM_001336	NP_001327	Q9UBR2	CATZ_HUMAN	cathepsin Z preproprotein	132					proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity			kidney(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)			ACCCCCTTCACAGGAGCCAGC	0.602			NA											8	46					5.18039e-06	6.37587e-06	0.00308	1	0
CDH26	60437	broad.mit.edu	37	20	58587739	58587739	+	Missense_Mutation	SNP	C	C	T	rs145724462	by1000genomes	TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr20:58587739C>T	uc002ybe.2	+	18	2753	c.2453C>T	c.(2452-2454)GCG>GTG	p.A818V	CDH26_uc002ybf.1_Intron|CDH26_uc010zzy.1_RNA|CDH26_uc002ybg.2_Missense_Mutation_p.A309V|CDH26_uc002ybh.2_Missense_Mutation_p.A151V|CDH26_uc002ybi.2_Missense_Mutation_p.A110V	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	Error:Variant_position_missing_in_Q8IXH8_after_alignment					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GGTTCAAAAGCGACTCCGTTT	0.453			NA											20	47					0	0	0.001882	0	0
MRPL39	54148	broad.mit.edu	37	21	26976215	26976215	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr21:26976215G>A	uc002ylo.2	-	3	327	c.313C>T	c.(313-315)CTG>TTG	p.L105L	MRPL39_uc002yln.2_Silent_p.L105L	NM_017446	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39 isoform a	105						mitochondrial ribosome	nucleotide binding				0						ACCAGAGCCAGAATGGACTTC	0.363			NA											4	23					0	0	0.000602	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28306881	28306881	+	Silent	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr21:28306881G>T	uc002ymg.2	-	4	2322	c.1593C>A	c.(1591-1593)ACC>ACA	p.T531T		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	531	Disintegrin.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						GCAGCTTCTTGGTCAGACAGA	0.542	Esophageal Squamous(53;683 1080 10100 14424 45938)		NA											7	52					2.0095e-06	2.50831e-06	0.001984	1	0
DSCAM	1826	broad.mit.edu	37	21	41416149	41416149	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr21:41416149C>A	uc002yyq.1	-	31	5691	c.5239G>T	c.(5239-5241)GCC>TCC	p.A1747S	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1747	Cytoplasmic (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACTGGCTGGCATAGCGGTTT	0.597	Melanoma(134;970 1778 1785 21664 32388)		NA											10	32					3.86212e-05	4.63982e-05	0.008291	1	0
ZNF295	49854	broad.mit.edu	37	21	43411294	43411294	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr21:43411294C>A	uc002zab.3	-	3	3125	c.2911G>T	c.(2911-2913)GAA>TAA	p.E971*	ZNF295_uc002yzz.3_Nonsense_Mutation_p.E770*|ZNF295_uc002yzy.3_Nonsense_Mutation_p.E971*|ZNF295_uc002zaa.3_Nonsense_Mutation_p.E971*	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	971					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3						ACCTCAGATTCCTTATGTGCC	0.537			NA											8	72					2.17888e-05	2.63562e-05	0.006214	1	0
ZNF295	49854	broad.mit.edu	37	21	43412359	43412359	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr21:43412359C>A	uc002zab.3	-	3	2060	c.1846G>T	c.(1846-1848)GAA>TAA	p.E616*	ZNF295_uc002yzz.3_Intron|ZNF295_uc002yzy.3_Nonsense_Mutation_p.E616*|ZNF295_uc002zaa.3_Nonsense_Mutation_p.E616*	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	616					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3						TGGAATTTTTCATCCAAAACA	0.453			NA											7	78					2.17888e-05	2.63562e-05	0.006214	1	0
TTC38	55020	broad.mit.edu	37	22	46682990	46682990	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr22:46682990C>T	uc003bhi.2	+	10	931	c.855C>T	c.(853-855)GCC>GCT	p.A285A	TTC38_uc011aqx.1_Silent_p.A227A	NM_017931	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	285	TPR 3.						binding			ovary(1)	1						GCCTGCAGGCCAACGATGCAA	0.647			NA											9	15					0	0	0.004482	0	0
CHL1	10752	broad.mit.edu	37	3	396330	396330	+	Silent	SNP	T	T	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:396330T>C	uc003bou.2	+	10	1264	c.993T>C	c.(991-993)CCT>CCC	p.P331P	CHL1_uc003bot.2_Silent_p.P347P|CHL1_uc003bow.1_Silent_p.P331P|CHL1_uc011asi.1_Silent_p.P347P	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	331	Ig-like C2-type 4.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAGAGCCTCCTCGCTGGACAA	0.453			NA											18	103					0	0	0.006122	0	0
TIMP4	7079	broad.mit.edu	37	3	12195027	12195027	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:12195027G>A	uc003bwo.2	-	5	970	c.663C>T	c.(661-663)ATC>ATT	p.I221I	SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.2_Intron|SYN2_uc003bwn.2_Intron	NM_003256	NP_003247	Q99727	TIMP4_HUMAN	tissue inhibitor of metalloproteinase 4	221							metal ion binding|metalloendopeptidase inhibitor activity				0						AGGGCTGAACGATGTCAACAA	0.532	Melanoma(199;1446 2144 30617 38794 51714)		NA											10	82					0	0	0.006214	0	0
WDR6	11180	broad.mit.edu	37	3	49051255	49051255	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:49051255C>G	uc003cvj.2	+	2	2516	c.2378C>G	c.(2377-2379)TCA>TGA	p.S793*	WDR6_uc011bbx.1_3'UTR|WDR6_uc011bby.1_Nonsense_Mutation_p.S241*|WDR6_uc010hkn.2_Nonsense_Mutation_p.S737*|WDR6_uc011bbz.1_Nonsense_Mutation_p.S712*	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	763	WD 12.				cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		ACCACAGGCTCAGCCCACGCA	0.577			NA									OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	40					0	0	0.001368	0	0
GTPBP8	29083	broad.mit.edu	37	3	112710151	112710151	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:112710151T>C	uc003dzn.2	+	1	352	c.305T>C	c.(304-306)ATC>ACC	p.I102T	GTPBP8_uc011bhy.1_RNA|GTPBP8_uc003dzp.2_RNA|GTPBP8_uc003dzo.2_Missense_Mutation_p.I102T	NM_014170	NP_054889	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 isoform 1	102					barrier septum formation		GTP binding				0						GCCGTCCGTATCGACCACGCC	0.652			NA											6	28					0	0	0.001168	0	0
KIAA1407	57577	broad.mit.edu	37	3	113755597	113755597	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:113755597G>A	uc003eax.2	-	5	599	c.452C>T	c.(451-453)ACC>ATC	p.T151I	KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.T129I|KIAA1407_uc011bip.1_Missense_Mutation_p.T138I	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	hypothetical protein LOC57577	151										ovary(2)	2						TTGAACGGTGGTACTTTCCTC	0.328			NA											6	30					0	0	0.001168	0	0
ADCY5	111	broad.mit.edu	37	3	123071356	123071356	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:123071356A>T	uc003egh.1	-	2	1207	c.1207T>A	c.(1207-1209)TCC>ACC	p.S403T	ADCY5_uc003egg.1_Missense_Mutation_p.S36T|ADCY5_uc003egi.1_5'UTR	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	403	Cytoplasmic (Potential).				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		TGTCTCTGGGAGACCTCAGCC	0.607			NA											12	43					0	0	0.001855	0	0
EPHB1	2047	broad.mit.edu	37	3	134670690	134670690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:134670690C>T	uc003eqt.2	+	3	821	c.601C>T	c.(601-603)CAA>TAA	p.Q201*	EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Intron	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	201	Extracellular (Potential).|Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						CAGCATTGTGCAAAATTTTGC	0.478			NA											32	135					0	0	0.002096	0	0
XRN1	54464	broad.mit.edu	37	3	142095375	142095375	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:142095375T>A	uc003eus.2	-	24	2844	c.2777A>T	c.(2776-2778)TAC>TTC	p.Y926F	XRN1_uc010huu.2_Missense_Mutation_p.Y392F|XRN1_uc003eut.2_Missense_Mutation_p.Y926F|XRN1_uc003euu.2_Missense_Mutation_p.Y926F|XRN1_uc003euv.1_Missense_Mutation_p.Y787F	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	926					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3						TGAAACAAGGTATCCACTCAC	0.323			NA											3	8					0	0	0.000248	0	0
SI	6476	broad.mit.edu	37	3	164737452	164737452	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:164737452C>A	uc003fei.2	-	28	3423	c.3361G>T	c.(3361-3363)GCA>TCA	p.A1121S		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1121	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CGCTTAAATGCTGTATGTTCC	0.438			NA								HNSCC(35;0.089)			6	45					8.12818e-05	9.6334e-05	0.001984	1	0
SI	6476	broad.mit.edu	37	3	164786586	164786586	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:164786586G>T	uc003fei.2	-	5	469	c.407C>A	c.(406-408)CCT>CAT	p.P136H		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	136	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AAATAGTGTAGGTGAAGGTAT	0.333			NA								HNSCC(35;0.089)			7	44					5.18039e-06	6.37587e-06	0.00308	1	0
OPA1	4976	broad.mit.edu	37	3	193372741	193372741	+	Silent	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:193372741A>T	uc003ftm.2	+	20	2172	c.1938A>T	c.(1936-1938)TCA>TCT	p.S646S	OPA1_uc003ftg.2_Silent_p.S701S|OPA1_uc003fth.2_Silent_p.S665S|OPA1_uc003fti.2_Silent_p.S683S|OPA1_uc003ftj.2_Silent_p.S664S|OPA1_uc003ftk.2_Silent_p.S647S|OPA1_uc003ftl.2_Silent_p.S628S|OPA1_uc003ftn.2_Silent_p.S610S	NM_015560	NP_056375	O60313	OPA1_HUMAN	optic atrophy 1 isoform 1	646	Mitochondrial intermembrane (By similarity).		S -> L (in OPA1).		apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding				0	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CCATGAATTCAGGAACTTTTA	0.363			NA											4	9					0	0	0.000248	0	0
ZNF718	255403	broad.mit.edu	37	4	155318	155318	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:155318A>C	uc003fzt.3	+	8	976	c.843A>C	c.(841-843)AAA>AAC	p.K281N	ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_Missense_Mutation_p.N61T	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN	zinc finger protein 718	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		CTGCACAAAAATACTACAAAT	0.363			NA											5	29					0	0	0.001168	0	0
GAK	2580	broad.mit.edu	37	4	884359	884359	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:884359G>A	uc003gbm.3	-	10	1241	c.1042C>T	c.(1042-1044)CCC>TCC	p.P348S	GAK_uc003gbn.3_Missense_Mutation_p.P269S|GAK_uc010ibk.1_Missense_Mutation_p.P242S|GAK_uc003gbl.3_Missense_Mutation_p.P212S	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	348	Poly-Pro.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		ACGGGAGGGGGTGGCCCTCGG	0.647			NA											6	36					0	0	0.001984	0	0
HGFAC	3083	broad.mit.edu	37	4	3451002	3451002	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:3451002C>T	uc003ghc.2	+	14	1827	c.1824C>T	c.(1822-1824)GGC>GGT	p.G608G	HGFAC_uc010icw.2_Silent_p.G615G	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	608	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AGAAGAACGGCGTGGCTTACC	0.677			NA											14	72					0	0	0.00499	0	0
GPR125	166647	broad.mit.edu	37	4	22390066	22390066	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:22390066G>A	uc003gqm.1	-	19	3493	c.3228C>T	c.(3226-3228)CCC>CCT	p.P1076P	GPR125_uc010ieo.1_Silent_p.P932P|GPR125_uc003gql.1_Silent_p.P203P	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	1076	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)				TAGAGTTGGGGGGCTGGACGT	0.498			NA											5	27					0	0	0.000602	0	0
MRPL1	65008	broad.mit.edu	37	4	78830471	78830471	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:78830471A>T	uc003hku.2	+	7	920	c.722A>T	c.(721-723)CAT>CTT	p.H241L	MRPL1_uc010iji.1_Missense_Mutation_p.H164L	NM_020236	NP_064621	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1 precursor	241							RNA binding				0						AAAAATGGACATGAAATTAAG	0.308			NA											11	69					0	0	0.003163	0	0
HADH	3033	broad.mit.edu	37	4	108935703	108935703	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:108935703G>A	uc003hyq.2	+	3	527	c.378G>A	c.(376-378)GTG>GTA	p.V126V	HADH_uc010ilx.2_Silent_p.V126V|HADH_uc010ily.2_Intron|HADH_uc003hyr.2_Silent_p.V130V	NM_005327	NP_005318	Q16836	HCDH_HUMAN	L-3-hydroxyacyl-Coenzyme A dehydrogenase	126					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	ATCTGAAGGTGAAAAACGAGC	0.438			NA											46	39					0	0	0.00361	0	0
PDE5A	8654	broad.mit.edu	37	4	120528141	120528141	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:120528141A>T	uc003idh.2	-	2	619	c.464T>A	c.(463-465)TTA>TAA	p.L155*	PDE5A_uc003idf.2_Nonsense_Mutation_p.L113*|PDE5A_uc003idg.2_Nonsense_Mutation_p.L103*	NM_001083	NP_001074	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1	155					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding				0					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	ATCCTTCACTAATTCCAAGAG	0.438			NA											5	40					0	0	0.000602	0	0
FAT4	79633	broad.mit.edu	37	4	126411587	126411587	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:126411587C>A	uc003ifj.3	+	17	13610	c.13610C>A	c.(13609-13611)CCC>CAC	p.P4537H	FAT4_uc011cgp.1_Missense_Mutation_p.P2778H|FAT4_uc003ifi.1_Missense_Mutation_p.P2014H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4537	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GCCAAAAATCCCAAAGAGGAG	0.527			NA											6	58					0.00116845	0.00133104	0.001168	1	0
PCDH10	57575	broad.mit.edu	37	4	134071517	134071517	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:134071517C>T	uc003iha.2	+	1	1048	c.222C>T	c.(220-222)TAC>TAT	p.Y74Y	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.Y74Y	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	74	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GGGTGCTGTACGTGAACGAGA	0.547			NA											6	92					0	0	0.001984	0	0
DCHS2	54798	broad.mit.edu	37	4	155155846	155155846	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:155155846G>A	uc003inw.2	-	25	8593	c.8593C>T	c.(8593-8595)CTG>TTG	p.L2865L		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2865					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCTTCTGGCAGAGAACCAAGA	0.527			NA											4	88					0	0	0.000602	0	0
TLL1	7092	broad.mit.edu	37	4	166924542	166924542	+	Splice_Site	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:166924542G>C	uc003irh.1	+	6	1280	c.633_splice	c.e6-1	p.G211_splice	TLL1_uc011cjn.1_Splice_Site_p.G211_splice|TLL1_uc011cjo.1_Splice_Site_p.G35_splice	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor						cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTTTATTCCAGATGCTGCTCC	0.418			NA											7	52					0	0	0.004482	0	0
SEMA5A	9037	broad.mit.edu	37	5	9190395	9190395	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr5:9190395G>A	uc003jek.2	-	11	1969	c.1257C>T	c.(1255-1257)ATC>ATT	p.I419I		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	419	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						CCAAATAGATGATGTGGACGA	0.498			NA											5	34					0	0	0.001168	0	0
CDH12	1010	broad.mit.edu	37	5	21752319	21752319	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr5:21752319G>A	uc010iuc.2	-	12	2370	c.1912C>T	c.(1912-1914)CGA>TGA	p.R638*	CDH12_uc011cno.1_Nonsense_Mutation_p.R598*|CDH12_uc003jgk.2_Nonsense_Mutation_p.R638*|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	638	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						TTCTGCCTTCGCAGTGCTACA	0.398			NA								HNSCC(59;0.17)			9	48					0	0	0.000978	0	0
HCN1	348980	broad.mit.edu	37	5	45262226	45262226	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr5:45262226C>T	uc003jok.2	-	8	2495	c.2470G>A	c.(2470-2472)GGA>AGA	p.G824R		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	824	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						AGGCCCGTTCCGGGGACCGCC	0.677			NA											4	36					0	0	0.000602	0	0
HCN1	348980	broad.mit.edu	37	5	45262359	45262359	+	Silent	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr5:45262359C>A	uc003jok.2	-	8	2362	c.2337G>T	c.(2335-2337)CTG>CTT	p.L779L		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	779	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						CTTCCCGGGTCAGGTTGGTGT	0.582			NA											7	39					0.00307968	0.00346341	0.00308	1	0
DMGDH	29958	broad.mit.edu	37	5	78324334	78324334	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr5:78324334C>T	uc003kfs.2	-	12	1960	c.1954G>A	c.(1954-1956)GAT>AAT	p.D652N	DMGDH_uc011cte.1_Missense_Mutation_p.D502N|DMGDH_uc011ctf.1_Missense_Mutation_p.D451N|DMGDH_uc011ctg.1_Missense_Mutation_p.D272N	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor	652					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)|skin(1)	4		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TTGAAAACATCATCACTAAGA	0.393			NA											11	84					0	0	0.008291	0	0
ERAP1	51752	broad.mit.edu	37	5	96126056	96126056	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr5:96126056A>T	uc003kmm.2	-	10	1814	c.1467T>A	c.(1465-1467)GAT>GAA	p.D489E	ERAP1_uc003kml.2_Missense_Mutation_p.D489E|ERAP1_uc010jbm.1_Missense_Mutation_p.D301E|ERAP1_uc003kmn.2_Missense_Mutation_p.D489E	NM_001040458	NP_001035548	Q9NZ08	ERAP1_HUMAN	type 1 tumor necrosis factor receptor shedding	489	Lumenal (Potential).				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		CTTTTACACCATCTGTAGGGC	0.363			NA											3	44					0	0	0.000602	0	0
HARS	3035	broad.mit.edu	37	5	140070834	140070834	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr5:140070834C>G	uc003lgv.2	-	1	138	c.56G>C	c.(55-57)CGA>CCA	p.R19P	HARS_uc011czm.1_Missense_Mutation_p.R19P|HARS_uc003lgw.2_Missense_Mutation_p.R19P|HARS_uc011czn.1_Missense_Mutation_p.R19P|HARS_uc010jfu.2_Missense_Mutation_p.R19P|HARS_uc011czo.1_Missense_Mutation_p.R19P|HARS_uc011czp.1_Missense_Mutation_p.R19P|HARS_uc011czq.1_Missense_Mutation_p.R19P|HARS2_uc010jfv.1_5'Flank|HARS2_uc003lgx.2_5'Flank|HARS2_uc011czr.1_5'Flank|HARS2_uc011czs.1_5'Flank|HARS2_uc011czt.1_5'Flank	NM_002109	NP_002100	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	19	WHEP-TRS.				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CTTGAGGCCTCGCACGCGCTC	0.647			NA											3	23					0	0	0.004672	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255829	140255829	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr5:140255829G>A	uc003lic.2	+	1	899	c.772G>A	c.(772-774)GAC>AAC	p.D258N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.D258N	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	258	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCAAAACGACACAAGAGT	0.418	Pancreas(113;759 1672 13322 24104 50104)		NA											12	71					0	0	0.000978	0	0
NIPAL4	348938	broad.mit.edu	37	5	156890126	156890126	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr5:156890126C>A	uc003lwx.3	+	2	364	c.248C>A	c.(247-249)TCC>TAC	p.S83Y	ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.S83Y|NIPAL4_uc010jin.1_Missense_Mutation_p.P18T	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	ichthyin protein	83	Extracellular (Potential).					integral to membrane	receptor activity				0						CTCTACTGCTCCTCCCAAGAA	0.512			NA											9	78					1.58986e-06	1.99869e-06	0.008291	1	0
NPM1	4869	broad.mit.edu	37	5	170834751	170834751	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr5:170834751G>C	uc011dex.1	+	11	954	c.819G>C	c.(817-819)AAG>AAC	p.K273N	NPM1_uc003mbi.2_Missense_Mutation_p.K273N|NPM1_uc003mbj.2_Missense_Mutation_p.K244N	NM_002520	NP_002511	P06748	NPM_HUMAN	nucleophosmin 1 isoform 1	273	Required for nucleolar localization.				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	haematopoietic_and_lymphoid_tissue(3109)|skin(1)	3110	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATTATGTGAAGAATTGCTTCC	0.373			NA	T|F 	ALK|RARA|MLF1	NHL|APL|AML								8	34					0	0	0.004482	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26045730	26045730	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr6:26045730C>T	uc003nfv.2	+	1	92	c.92C>T	c.(91-93)CCG>CTG	p.P31L	HIST1H2BB_uc003nfu.2_5'Flank	NM_003531	NP_003522	P68431	H31_HUMAN	histone cluster 1, H3c	31					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						AAGAGCGCTCCGGCCACCGGT	0.612			NA											7	72					0	0	0.001984	0	0
BTN3A1	11119	broad.mit.edu	37	6	26410240	26410240	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr6:26410240G>C	uc003nhv.2	+	7	1312	c.944G>C	c.(943-945)AGA>ACA	p.R315T	BTN3A1_uc011dkj.1_Missense_Mutation_p.R315T|BTN3A1_uc011dkk.1_Missense_Mutation_p.R263T|BTN3A1_uc010jqj.2_Missense_Mutation_p.R315T	NM_007048	NP_008979	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1 isoform a	315	Cytoplasmic (Potential).				lipid metabolic process	integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2						GCAGGATGGAGAAGTATCCAG	0.463			NA											6	177					0	0	0.001168	0	0
VARS2	57176	broad.mit.edu	37	6	30891283	30891283	+	Splice_Site	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr6:30891283G>C	uc003nsc.1	+	24	3098	c.2466_splice	c.e24+1	p.L822_splice	VARS2_uc011dmx.1_Splice_Site_p.L822_splice|VARS2_uc011dmy.1_Splice_Site_p.L682_splice|VARS2_uc011dmz.1_Splice_Site_p.L852_splice|VARS2_uc011dna.1_Splice_Site_p.L820_splice|VARS2_uc011dnb.1_Splice_Site|VARS2_uc011dnc.1_Splice_Site|VARS2_uc011dnd.1_Splice_Site_p.L260_splice|VARS2_uc010jsg.1_Splice_Site_p.L194_splice|VARS2_uc010jsh.1_5'UTR	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial						valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						CGTCTACCTGGTGAGTGAGGC	0.547			NA											9	66					0	0	0.008291	0	0
CYP21A2	1589	broad.mit.edu	37	6	31975113	31975113	+	Missense_Mutation	SNP	G	G	C	rs62402680		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr6:31975113G>C	uc010jtp.2	+	8	924	c.806G>C	c.(805-807)AGC>ACC	p.S269T	CYP21A2_uc011dpb.1_Missense_Mutation_p.S239T			P08686	CP21A_HUMAN	SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2; SubName: Full=Cytochrome P450 21-hydroxylase; SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2, isoform CRA_b; SubName: Full=DJ34F7.3 (Cytochrome P450, subfamily XXIA (Steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2 (CYP21, P450c21B)); SubName: Full=cDNA, FLJ95495, Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2(CYP21A2), mRNA;	268				S->C,M,T: No loss of function.	glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding				0						GCGCAGCCGAGCATGGAAGAG	0.627	Melanoma(174;1669 1998 3915 34700 46447)		NA											3	86					0	0	0.000248	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33406331	33406331	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr6:33406331G>C	uc011dri.1	+	9	1717	c.1522G>C	c.(1522-1524)GAT>CAT	p.D508H	SYNGAP1_uc003oeo.1_Missense_Mutation_p.D493H|SYNGAP1_uc010juy.2_Missense_Mutation_p.D493H|SYNGAP1_uc010juz.2_Missense_Mutation_p.D220H	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	508	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						ATACCTCAAGGATGCCATTGG	0.522			NA											5	120					0	0	0.000602	0	0
PPARD	5467	broad.mit.edu	37	6	35388010	35388010	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr6:35388010C>G	uc003okm.2	+	4	546	c.237C>G	c.(235-237)GAC>GAG	p.D79E	PPARD_uc003okl.2_Missense_Mutation_p.D79E|PPARD_uc003okn.2_Missense_Mutation_p.D79E|PPARD_uc011dtb.1_Missense_Mutation_p.D40E|PPARD_uc011dtc.1_Intron|PPARD_uc010jvv.1_Intron	NM_006238	NP_006229	Q03181	PPARD_HUMAN	peroxisome proliferative activated receptor,	79	Nuclear receptor.|NR C4-type.			D -> G (in Ref. 5; BAF84350).	apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	TGTGCGGGGACAAGGCATCGG	0.652			NA											5	59					0	0	0.000602	0	0
C6orf138	442213	broad.mit.edu	37	6	47847083	47847083	+	Silent	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr6:47847083C>A	uc011dwm.1	-	3	1531	c.1446G>T	c.(1444-1446)TCG>TCT	p.S482S	C6orf138_uc011dwn.1_Silent_p.S246S	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	499						integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1						AAACACTTGGCGAATCACTGG	0.453			NA											18	23					0.00074312	0.000854831	0.006122	1	0
IL17A	3605	broad.mit.edu	37	6	52052547	52052547	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr6:52052547C>T	uc003pak.1	+	2	219	c.174C>T	c.(172-174)ACC>ACT	p.T58T		NM_002190	NP_002181	Q16552	IL17_HUMAN	interleukin 17A precursor	58					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity				0	Lung NSC(77;0.116)					ATACCAATACCAATCCCAAAA	0.453			NA											17	141					0	0	0.004007	0	0
DST	667	broad.mit.edu	37	6	56458704	56458704	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr6:56458704C>A	uc003pdf.2	-	42	6154	c.6126G>T	c.(6124-6126)GAG>GAT	p.E2042D	DST_uc003pcz.3_Missense_Mutation_p.E1864D|DST_uc011dxj.1_Missense_Mutation_p.E1893D|DST_uc011dxk.1_Missense_Mutation_p.E1904D|DST_uc003pcy.3_Missense_Mutation_p.E1538D|DST_uc010kaa.1_RNA	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	3950	Spectrin 2.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGCACCTGCCTCCAGGTTTT	0.413			NA											13	116					0.00136819	0.00155356	0.001368	1	0
NUDT1	4521	broad.mit.edu	37	7	2289541	2289541	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:2289541G>A	uc003slp.1	+	4	373	c.271G>A	c.(271-273)GGC>AGC	p.G91S	NUDT1_uc003slq.1_Missense_Mutation_p.G68S|NUDT1_uc003slr.1_Missense_Mutation_p.G68S|NUDT1_uc003sls.1_Missense_Mutation_p.G91S|NUDT1_uc003slt.1_Missense_Mutation_p.G68S|NUDT1_uc003slu.1_Missense_Mutation_p.G91S|NUDT1_uc003slv.1_Missense_Mutation_p.G68S	NM_198949	NP_945187	P36639	8ODP_HUMAN	nudix-type motif 1 isoform p22	109	Nudix hydrolase.				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding				0		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		GCACAAGGTGGGCCAGATCGT	0.652			NA						Direct_reversal_of_damage|Modulation_of_nucleotide_pools					14	86					0	0	0.003163	0	0
CARD11	84433	broad.mit.edu	37	7	2984046	2984046	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:2984046C>T	uc003smv.2	-	5	888	c.484G>A	c.(484-486)GAG>AAG	p.E162K		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	162	Potential.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGCTTCTTCTCATCCTCCAGC	0.577			NA	Mis		DLBCL								8	112					0	0	0.006214	0	0
FKBP14	55033	broad.mit.edu	37	7	30058645	30058645	+	Silent	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:30058645A>G	uc003tal.1	-	3	588	c.444T>C	c.(442-444)GAT>GAC	p.D148D	FKBP14_uc010kvq.1_RNA	NM_017946	NP_060416	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14 precursor	148	EF-hand 1.|1 (Potential).				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0						CATCATTAAGATCCATTTCTT	0.363			NA											8	53					0	0	0.004482	0	0
FAM188B	84182	broad.mit.edu	37	7	30915236	30915236	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:30915236T>G	uc003tbt.2	+	15	2013	c.1936T>G	c.(1936-1938)TTC>GTC	p.F646V	FAM188B_uc010kwe.2_Missense_Mutation_p.F617V|AQP1_uc011kac.1_5'UTR|FAM188B_uc003tbu.2_Missense_Mutation_p.F166V	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	hypothetical protein LOC84182	646											0						TGATATTGGCTTCTTATCTCT	0.498			NA											22	105					0	0	0.00278	0	0
NT5C3	51251	broad.mit.edu	37	7	33057183	33057183	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:33057183G>A	uc003tdk.2	-	7	653	c.576C>T	c.(574-576)CTC>CTT	p.L192L	AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Silent_p.L153L|NT5C3_uc003tdj.2_Silent_p.L153L	NM_001002010	NP_001002010	Q9H0P0	5NT3_HUMAN	5'-nucleotidase, cytosolic III isoform 1	192					nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol|endoplasmic reticulum	2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding	p.L192H(1)		ovary(1)	1			GBM - Glioblastoma multiforme(11;0.0894)			TATGTTGTTGGAGCTTATCAA	0.373			NA											35	42					0	0	0.004878	0	0
NPSR1	387129	broad.mit.edu	37	7	34867158	34867159	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:34867158_34867159CC>AA	uc003teg.1	+	5	752_753	c.624_625CC>AA	c.(622-627)ACCCCA>ACAACA	p.P209T	AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.P209T|NPSR1_uc010kwt.1_Missense_Mutation_p.P56T|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.P143T|NPSR1_uc003tei.1_Missense_Mutation_p.P209T|NPSR1_uc010kww.1_Missense_Mutation_p.P198T|NPSR1_uc011kar.1_Missense_Mutation_p.P143T|AAA1_uc010kwy.2_Intron|AAA1_uc003tek.3_Intron	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN	G protein-coupled receptor for asthma	209	Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			skin(3)|pancreas(1)	4					Halothane(DB01159)	CCTACTGGACCCCATACATGAC	0.574			NA											11	130					0	0	0.004672	0	0
CALN1	83698	broad.mit.edu	37	7	71252772	71252772	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:71252772G>T	uc003twa.3	-	6	1175	c.648C>A	c.(646-648)AGC>AGA	p.S216R	CALN1_uc003twb.3_Missense_Mutation_p.S258R|CALN1_uc003twc.3_Missense_Mutation_p.S216R	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN	calneuron 1 isoform 2	216	Extracellular (Potential).					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			skin(1)	1		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				ACTCCATGCCGCTCCGGAGTA	0.587			NA											9	24					0.000442599	0.000515877	0.006214	1	0
HGF	3082	broad.mit.edu	37	7	81372711	81372711	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:81372711C>A	uc003uhl.2	-	7	988	c.823G>T	c.(823-825)GAC>TAC	p.D275Y	HGF_uc003uhm.2_Missense_Mutation_p.D270Y|HGF_uc003uhn.1_Missense_Mutation_p.D275Y|HGF_uc003uho.1_Missense_Mutation_p.D270Y	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	275	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						GTGTGAGGGTCAAGAGTATAG	0.478			NA											16	38					4.7546e-09	6.24485e-09	0.004007	1	0
PCLO	27445	broad.mit.edu	37	7	82545902	82545902	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:82545902G>T	uc003uhx.2	-	7	11689	c.11400C>A	c.(11398-11400)TAC>TAA	p.Y3800*	PCLO_uc003uhv.2_Nonsense_Mutation_p.Y3800*|PCLO_uc010lec.2_Nonsense_Mutation_p.Y765*	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3731					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CCATTTCCAGGTATCGTAGCT	0.443			NA											14	67					1.05317e-09	1.39893e-09	0.00245	1	0
STAG3	10734	broad.mit.edu	37	7	99795408	99795408	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:99795408A>G	uc003utx.1	+	11	1228	c.1073A>G	c.(1072-1074)GAA>GGA	p.E358G	STAG3_uc010lgs.1_Missense_Mutation_p.E146G|STAG3_uc011kjk.1_Missense_Mutation_p.E300G|STAG3_uc003uub.1_5'Flank	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	358	SCD.				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCACCGAGAAGTCCGCCTG	0.562			NA											10	111					0	0	0.000978	0	0
SRRT	51593	broad.mit.edu	37	7	100483532	100483532	+	Silent	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:100483532A>G	uc003uwy.2	+	13	1696	c.1428A>G	c.(1426-1428)AAA>AAG	p.K476K	SRRT_uc010lhl.1_Silent_p.K475K|SRRT_uc003uxa.2_Silent_p.K475K|SRRT_uc003uwz.2_Silent_p.K476K	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	arsenate resistance protein 2 isoform a	476					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			ovary(2)	2						TTAACATTAAAGAGATCTGTT	0.527			NA											13	105					0	0	0.001855	0	0
IRF5	3663	broad.mit.edu	37	7	128588302	128588302	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:128588302C>T	uc003vog.2	+	9	1310	c.1189C>T	c.(1189-1191)CCA>TCA	p.P397S	IRF5_uc003voh.2_Missense_Mutation_p.P381S|IRF5_uc010llt.2_Missense_Mutation_p.P305S|IRF5_uc003voi.2_Missense_Mutation_p.P381S|IRF5_uc003voj.3_Missense_Mutation_p.P381S	NM_002200	NP_002191	Q13568	IRF5_HUMAN	interferon regulatory factor 5 isoform a	391					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						CAACACCCCACCACCCTTCGA	0.537			NA											28	87					0	0	0.00632	0	0
OR6V1	346517	broad.mit.edu	37	7	142749587	142749587	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:142749587C>T	uc011ksv.1	+	1	150	c.150C>T	c.(148-150)GAC>GAT	p.D50D		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V,	50	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.059)					TCATAGCTGACACCCACCTAC	0.502			NA											59	201					0	0	0.00361	0	0
ATG9B	285973	broad.mit.edu	37	7	150721177	150721177	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:150721177G>C	uc011kvc.1	-	1	410	c.334C>G	c.(334-336)CCC>GCC	p.P112A	ATG9B_uc003wig.3_5'Flank	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	ATG9 autophagy related 9 homolog B	112	Pro-rich.|Cytoplasmic (By similarity).				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				ovary(1)	1	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCCAGGAGGGAGATGCAGAG	0.657			NA											3	19					0	0	0.004672	0	0
CSMD1	64478	broad.mit.edu	37	8	2808709	2808709	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr8:2808709G>T	uc011kwk.1	-	66	10521	c.10131C>A	c.(10129-10131)GAC>GAA	p.D3377E	CSMD1_uc011kwj.1_Missense_Mutation_p.D2691E|CSMD1_uc010lrg.2_Missense_Mutation_p.D1268E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3377	Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CATTGAACCAGTCAACAGTTA	0.473			NA											9	11					1.61879e-10	2.20006e-10	0.001368	1	0
PRKDC	5591	broad.mit.edu	37	8	48790322	48790322	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr8:48790322C>T	uc003xqi.2	-	41	5383	c.5326G>A	c.(5326-5328)GAA>AAA	p.E1776K	PRKDC_uc003xqj.2_Missense_Mutation_p.E1776K|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	1776					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGAAATAATTCTTCCATGACA	0.403	Esophageal Squamous(79;1091 1253 12329 31680 40677)		NA						NHEJ					7	91					0	0	0.001984	0	0
RALYL	138046	broad.mit.edu	37	8	85441676	85441676	+	Silent	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr8:85441676C>A	uc003ycq.3	+	3	536	c.120C>A	c.(118-120)GCC>GCA	p.A40A	RALYL_uc003ycr.3_Silent_p.A40A|RALYL_uc003ycs.3_Silent_p.A40A|RALYL_uc010lzy.2_Silent_p.A40A|RALYL_uc003yct.3_Silent_p.A53A	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like isoform 2	40	RRM.						identical protein binding|nucleotide binding|RNA binding			ovary(1)	1						ACATTGAAGCCATTTTTTCAA	0.423			NA											18	24					6.49762e-13	8.93423e-13	0.006122	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885892	88885892	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr8:88885892G>T	uc003ydz.2	-	1	405	c.308C>A	c.(307-309)ACC>AAC	p.T103N		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	103										ovary(1)	1						GCCTCGCATGGTGATGATGCC	0.542			NA											44	76					1.81118e-26	2.60219e-26	0.00361	1	0
TRPS1	7227	broad.mit.edu	37	8	116426524	116426524	+	Silent	SNP	T	T	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr8:116426524T>C	uc003ynz.2	-	6	4032	c.3573A>G	c.(3571-3573)GTA>GTG	p.V1191V	TRPS1_uc011lhy.1_Silent_p.V1195V|TRPS1_uc003yny.2_Silent_p.V1204V|TRPS1_uc010mcy.2_Silent_p.V1191V	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	1191	Transcriptional repressor domain (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTTCATTTTTTACATTTGGTG	0.423			NA							Langer-Giedion_syndrome				13	42					0	0	0.001368	0	0
TRPS1	7227	broad.mit.edu	37	8	116631652	116631652	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr8:116631652G>T	uc003ynz.2	-	2	1093	c.634C>A	c.(634-636)CCG>ACG	p.P212T	TRPS1_uc011lhy.1_Missense_Mutation_p.P216T|TRPS1_uc003yny.2_Missense_Mutation_p.P225T|TRPS1_uc010mcy.2_Missense_Mutation_p.P212T	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	212					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGAGGTGCCGGGTCTGGGTTG	0.468			NA							Langer-Giedion_syndrome				18	130					6.94344e-10	9.29313e-10	0.006122	1	0
TRPS1	7227	broad.mit.edu	37	8	116631786	116631786	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr8:116631786G>T	uc003ynz.2	-	2	959	c.500C>A	c.(499-501)GCA>GAA	p.A167E	TRPS1_uc011lhy.1_Missense_Mutation_p.A171E|TRPS1_uc003yny.2_Missense_Mutation_p.A180E|TRPS1_uc010mcy.2_Missense_Mutation_p.A167E	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	167					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ACCACTCTGTGCTTGCCCTGT	0.502			NA							Langer-Giedion_syndrome				4	101					0.000602214	0.000695015	0.000602	1	0
EIF2C2	27161	broad.mit.edu	37	8	141583013	141583013	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr8:141583013C>T	uc003yvn.2	-	3	274	c.234G>A	c.(232-234)ATG>ATA	p.M78I	EIF2C2_uc010men.2_Missense_Mutation_p.M1I|EIF2C2_uc010meo.2_Missense_Mutation_p.M78I	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	78					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			AGTGCTGGACCATGTGTTCCA	0.443			NA											5	64					0	0	0.001168	0	0
LYNX1	66004	broad.mit.edu	37	8	143857024	143857024	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr8:143857024C>G	uc003yxc.1	-	3	411	c.141G>C	c.(139-141)ATG>ATC	p.M47I	LYNX1_uc003yxb.2_Missense_Mutation_p.M47I|LYNX1_uc003yxd.1_Missense_Mutation_p.M47I|LYNX1_uc003yxe.1_Missense_Mutation_p.M47I	NM_177476	NP_803429	Q9BZG9	LYNX1_HUMAN	Ly-6 neurotoxin-like protein 1 isoform c	47	UPAR/Ly6.					anchored to membrane|plasma membrane					0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGCGCGTGGTCATGCAGTAGG	0.662			NA											4	13					0	0	0.000248	0	0
FAM154A	158297	broad.mit.edu	37	9	18928737	18928737	+	Silent	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:18928737G>T	uc003zni.1	-	4	1016	c.738C>A	c.(736-738)GGC>GGA	p.G246G	FAM154A_uc010mip.1_Silent_p.G54G	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	hypothetical protein LOC158297	246										pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.53e-16)		CCCCCATCAGGCCCCGGTAGG	0.532			NA											20	36					2.94398e-08	3.7959e-08	0.007413	1	0
ACO1	48	broad.mit.edu	37	9	32436252	32436252	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:32436252A>T	uc003zqw.3	+	18	2259	c.2104A>T	c.(2104-2106)ACT>TCT	p.T702S	ACO1_uc010mjh.1_3'UTR|ACO1_uc003zqx.3_Missense_Mutation_p.T702S|ACO1_uc003zqy.3_RNA	NM_002197	NP_002188	P21399	ACOC_HUMAN	aconitase 1	702					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)		TCTTAGCCTAACTCCACGAGA	0.408			NA											11	53					0	0	0.000978	0	0
LOC442421	442421	broad.mit.edu	37	9	66499680	66499680	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:66499680C>A	uc004aee.1	+	1	490	c.490C>A	c.(490-492)CCC>ACC	p.P164T	LOC442421_uc004aed.1_RNA					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).												0						TCATGTTAACCCCTTCCCAGG	0.582			NA											4	35					2.56e-06	3.18417e-06	0.000248	1	0
C9orf79	286234	broad.mit.edu	37	9	90502131	90502131	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:90502131G>A	uc004app.3	+	4	2764	c.2729G>A	c.(2728-2730)AGC>AAC	p.S910N	C9orf79_uc004apo.1_Missense_Mutation_p.S722N	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	910						integral to membrane				ovary(3)	3						AGAACAACAAGCAAGTCAGTC	0.597			NA											7	40					0	0	0.00308	0	0
FAM75C1	441452	broad.mit.edu	37	9	90536166	90536166	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:90536166C>T	uc010mqi.2	+	4	1373	c.1344C>T	c.(1342-1344)AAC>AAT	p.N448N	FAM75C1_uc004apq.3_Silent_p.N431N	NM_001145124	NP_001138596			family with sequence similarity 75, member C1												0						TGCCTGAGAACTTTCCAGTCA	0.493			NA											17	98					0	0	0.00333	0	0
PHF2	5253	broad.mit.edu	37	9	96421880	96421880	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:96421880G>T	uc004aub.2	+	11	1474	c.1327G>T	c.(1327-1329)GAG>TAG	p.E443*	PHF2_uc011lug.1_Nonsense_Mutation_p.E326*	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	443					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCGGCTCAGTGAGGTGGGGCC	0.617			NA											12	14					3.03607e-14	4.24086e-14	0.001368	1	0
PTCH1	5727	broad.mit.edu	37	9	98241374	98241374	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:98241374G>A	uc004avk.3	-	8	1311	c.1123C>T	c.(1123-1125)CAC>TAC	p.H375Y	PTCH1_uc010mro.2_Missense_Mutation_p.H224Y|PTCH1_uc010mrp.2_Missense_Mutation_p.H224Y|PTCH1_uc010mrq.2_Missense_Mutation_p.H224Y|PTCH1_uc004avl.3_Missense_Mutation_p.H224Y|PTCH1_uc010mrr.2_Missense_Mutation_p.H309Y|PTCH1_uc004avm.3_Missense_Mutation_p.H374Y|PTCH1_uc010mrs.1_Missense_Mutation_p.H95Y	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	375	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCCTTGAAGTGCTCGTACATT	0.537			NA							Basal_Cell_Nevus_syndrome				9	51					0	0	0.006214	0	0
OR13C8	138802	broad.mit.edu	37	9	107331812	107331812	+	Missense_Mutation	SNP	C	C	T	rs79042036		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:107331812C>T	uc011lvo.1	+	1	364	c.364C>T	c.(364-366)CGC>TGC	p.R122C		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GGCACTGGACCGCTATGTGGC	0.527			NA											16	62					0	0	0.004007	0	0
OR13C5	138799	broad.mit.edu	37	9	107361392	107361392	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:107361392C>T	uc011lvp.1	-	1	303	c.303G>A	c.(301-303)ATG>ATA	p.M101I		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C,	101	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4						AGCTGAGGAACATCTGCACTG	0.517			NA											8	110					0	0	0.008291	0	0
SVEP1	79987	broad.mit.edu	37	9	113194760	113194760	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:113194760C>T	uc010mtz.2	-	31	5552	c.5215G>A	c.(5215-5217)GTT>ATT	p.V1739I		NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1739	Sushi 6.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						GATGGTGAAACGCCGTTCCAG	0.443			NA											16	61					0	0	0.006122	0	0
C9orf84	158401	broad.mit.edu	37	9	114454670	114454670	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:114454670G>A	uc004bfr.2	-	25	3530	c.3395C>T	c.(3394-3396)GCT>GTT	p.A1132V	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.A1093V|C9orf84_uc010mug.2_Missense_Mutation_p.A1043V	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	1132										ovary(2)	2						TAAATCAGAAGCTGAACTTTG	0.358			NA											7	35					0	0	0.001984	0	0
ZNF883	169834	broad.mit.edu	37	9	115760036	115760036	+	Silent	SNP	T	T	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:115760036T>C	uc011lwy.1	-	5	1743	c.504A>G	c.(502-504)CTA>CTG	p.L168L		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	hypothetical protein LOC169834	168	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GATGTTCAATTAGGTGTGTGC	0.403			NA											4	42					0	0	0.000248	0	0
ZNF618	114991	broad.mit.edu	37	9	116779005	116779005	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:116779005G>T	uc004bid.2	+	10	884	c.785G>T	c.(784-786)GGC>GTC	p.G262V	ZNF618_uc004bib.1_Missense_Mutation_p.G230V|ZNF618_uc004bic.2_Missense_Mutation_p.G250V|ZNF618_uc011lxi.1_Missense_Mutation_p.G230V|ZNF618_uc011lxj.1_Missense_Mutation_p.G230V	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	262	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GAATTCTGCGGCAAACAGTAC	0.552			NA											4	22					0.000602214	0.000695015	0.000602	1	0
AMBP	259	broad.mit.edu	37	9	116824992	116824992	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:116824992C>T	uc004bie.3	-	7	913	c.650G>A	c.(649-651)GGT>GAT	p.G217D	AMBP_uc011lxk.1_Missense_Mutation_p.G158D|AMBP_uc010mvc.1_RNA	NM_001633	NP_001624	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin preproprotein	217	Glycopeptide (secretory piece).				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			skin(1)	1					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CAGTTGCCCACCCCCTGATCC	0.542			NA											17	66					0	0	0.007413	0	0
STXBP1	6812	broad.mit.edu	37	9	130430376	130430376	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:130430376T>C	uc004brl.2	+	10	1009	c.812T>C	c.(811-813)ATC>ACC	p.I271T	STXBP1_uc004brk.2_Missense_Mutation_p.I271T	NM_001032221	NP_001027392	P61764	STXB1_HUMAN	syntaxin binding protein 1 isoform b	271					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			skin(1)	1						ACCAGCGGCATCGGGGAGGCA	0.587			NA											11	34					0	0	0.001368	0	0
TLR8	51311	broad.mit.edu	37	X	12937480	12937480	+	Silent	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:12937480C>A	uc004cve.2	+	2	389	c.321C>A	c.(319-321)CCC>CCA	p.P107P	TLR8_uc004cvd.2_Silent_p.P125P	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	107	Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						ACGGAAATCCCGGTATACAAT	0.408			NA											19	101					6.94344e-10	9.29313e-10	0.006122	1	0
RS1	6247	broad.mit.edu	37	X	18665334	18665334	+	Silent	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:18665334G>T	uc004cyo.2	-	4	338	c.303C>A	c.(301-303)GCC>GCA	p.A101A	CDKL5_uc004cym.2_Intron|CDKL5_uc004cyn.2_Intron	NM_000330	NP_000321	O15537	XLRS1_HUMAN	X-linked juvenile retinoschisis protein	101	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				ovary(2)	2	Hepatocellular(33;0.183)					TGTTGAGCCGGGCCTTGTTTG	0.468			NA											15	56					2.62699e-14	3.68406e-14	0.003163	1	0
NONO	4841	broad.mit.edu	37	X	70511691	70511691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:70511691C>T	uc004dzo.2	+	5	927	c.217C>T	c.(217-219)CGA>TGA	p.R73*	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Nonsense_Mutation_p.R73*|NONO_uc004dzp.2_Nonsense_Mutation_p.R73*|NONO_uc011mpv.1_Translation_Start_Site|NONO_uc004dzq.2_5'Flank	NM_001145408	NP_001138880	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	73	DBHS.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	ovary(2)|kidney(2)	4	Renal(35;0.156)					CTTCACCCAACGAAGCCGTCT	0.428			NA	T	TFE3	papillary renal cancer								4	31					0	0	0.000248	0	0
ATRX	546	broad.mit.edu	37	X	76938254	76938254	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:76938254C>A	uc004ecp.3	-	9	2726	c.2494G>T	c.(2494-2496)GGT>TGT	p.G832C	ATRX_uc004ecq.3_Missense_Mutation_p.G794C|ATRX_uc004eco.3_Missense_Mutation_p.G617C|ATRX_uc004ecr.2_Missense_Mutation_p.G764C|ATRX_uc010nlx.1_Missense_Mutation_p.G803C|ATRX_uc010nly.1_Missense_Mutation_p.G777C	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	832					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	CTGGcagcaccaattttactc	0.224			NA	Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						11	185					0.000978159	0.0011179	0.000978	1	0
TEX13B	56156	broad.mit.edu	37	X	107224449	107224449	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:107224449C>T	uc004enn.1	-	3	893	c.800G>A	c.(799-801)TGT>TAT	p.C267Y		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	testis expressed 13B	267										ovary(1)	1						GGGAGCTGGACAGGAAGAGGC	0.537			NA											21	127					0	0	0.001882	0	0
TRPC5	7224	broad.mit.edu	37	X	111078148	111078148	+	Splice_Site	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:111078148C>T	uc004epl.1	-	7	2815	c.1896_splice	c.e7+1	p.A632_splice	TRPC5_uc004epm.1_Splice_Site_p.A632_splice	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,						axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						AAGCTACTCACGGCAATAAGC	0.448			NA											29	127					0	0	0.00632	0	0
NDUFA1	4694	broad.mit.edu	37	X	119007299	119007299	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:119007299G>C	uc004esc.3	+	2	276	c.135G>C	c.(133-135)TGG>TGC	p.W45C	RNF113A_uc004esb.2_5'Flank	NM_004541	NP_004532	O15239	NDUA1_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	45					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)	1					NADH(DB00157)	GGTATCACTGGAGTCTGATGG	0.408			NA											10	52					0	0	0.001368	0	0
STAG2	10735	broad.mit.edu	37	X	123179212	123179212	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:123179212C>A	uc004etz.3	+	7	1000	c.661C>A	c.(661-663)CTG>ATG	p.L221M	STAG2_uc004eua.2_Missense_Mutation_p.L221M|STAG2_uc004eub.2_Missense_Mutation_p.L221M|STAG2_uc004euc.2_Missense_Mutation_p.L221M|STAG2_uc004eud.2_Missense_Mutation_p.L221M|STAG2_uc004eue.2_Missense_Mutation_p.L221M	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	221					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						TACAAGCACCCTGGCAGGTCG	0.328			NA											20	99					1.96292e-10	2.65749e-10	0.001523	1	0
FAM45B	55855	broad.mit.edu	37	X	129629658	129629658	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:129629658G>A	uc010nrh.2	+	1	744	c.526G>A	c.(526-528)GCA>ACA	p.A176T	uc004evu.2_Intron	NM_207009	NP_996892			hypothetical protein LOC404636											skin(1)	1				all cancers(201;0.0293)		CTTACACACAGCACTGATGCT	0.483			NA											11	46					0	0	0.003163	0	0
GPR112	139378	broad.mit.edu	37	X	135455108	135455108	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:135455108G>T	uc004ezu.1	+	15	7952	c.7661G>T	c.(7660-7662)GGG>GTG	p.G2554V	GPR112_uc010nsb.1_Missense_Mutation_p.G2349V	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	2554	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					GAGTTTTCTGGGCAGATAGCA	0.488			NA											7	222					0.00198382	0.00224535	0.001984	1	0
F9	2158	broad.mit.edu	37	X	138643931	138643931	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:138643931G>C	uc004fas.1	+	8	1116	c.1087G>C	c.(1087-1089)GGG>CGG	p.G363R	F9_uc004fat.1_Missense_Mutation_p.G325R	NM_000133	NP_000124	P00740	FA9_HUMAN	coagulation factor IX preproprotein	363	Peptidase S1.		G -> W (in HEMB).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	CTTCCACAAAGGGAGATCAGC	0.428			NA											5	96					0	0	0.000602	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995417	140995417	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:140995417C>A	uc004fbt.2	+	4	2513	c.2227C>A	c.(2227-2229)CCT>ACT	p.P743T	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	743							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCAGAGTCCTGTGAGTAT	0.557			NA								HNSCC(15;0.026)			48	202					8.00217e-19	1.13579e-18	0.00361	1	0
MAGEC2	51438	broad.mit.edu	37	X	141291161	141291161	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:141291161A>G	uc004fbu.1	-	3	961	c.613T>C	c.(613-615)TTC>CTC	p.F205L		NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	205	MAGE.					cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					AACACACAGAAGTGGTCAGGG	0.478			NA								HNSCC(46;0.14)			27	120					0	0	0.003954	0	0
FLNA	2316	broad.mit.edu	37	X	153577354	153577355	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:153577354_153577355CC>AA	uc004fkk.2	-	48	8055_8056	c.7806_7807GG>TT	c.(7804-7809)GAGGAG>GATTAG	p.2602_2603EE>D*	FLNA_uc004fki.2_Nonsense_Mutation_p.642_643EE>D*|FLNA_uc011mzn.1_Nonsense_Mutation_p.735_736EE>D*|FLNA_uc010nuu.1_Nonsense_Mutation_p.2594_2595EE>D*	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	2602_2603	Self-association site, tail.|Filamin 24.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCAGGATCTCCTCGCAGGGGG	0.634			NA											9	26					0	0	0.004672	0	0
BRCC3	79184	broad.mit.edu	37	X	154348404	154348404	+	Silent	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:154348404A>G	uc004fna.2	+	11	1023	c.930A>G	c.(928-930)CAA>CAG	p.Q310Q	BRCC3_uc004fnb.2_Silent_p.Q285Q	NM_024332	NP_077308	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	310					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(3)|ovary(1)|large_intestine(1)|breast(1)	6	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGCTTATGCAAGAACTTTCTT	0.418			NA											11	49					0	0	0.001855	0	0
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-	rs11556342		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	GAA	GAA	-	-	GAA	GAA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:154245864_154245866delGAA	uc001fes.2	+	2	267_269	c.106_108delGAA	c.(106-108)GAAdel	p.E40del	HAX1_uc001fet.2_Intron|HAX1_uc010peo.1_In_Frame_Del_p.E40del|HAX1_uc009wou.2_5'UTR|HAX1_uc009wov.2_In_Frame_Del_p.E14del	NM_006118	NP_006109	O00165	HAX1_HUMAN	HCLS1 associated protein X-1 isoform a	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding				0	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522			NA							Kostmann_syndrome				7	85	---	---	---	---	NA	NA	NA	NA	NA
HTR3A	3359	broad.mit.edu	37	11	113857333	113857333	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:113857333delC	uc010rxb.1	+	7	1050	c.817delC	c.(817-819)CCCfs	p.P273fs	HTR3A_uc010rxa.1_Frame_Shift_Del_p.P273fs|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Frame_Shift_Del_p.P252fs	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	267	Helical; Name=1; (Potential).				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CTTCTACCTGCCCCCCAACAG	0.592			NA											8	45	---	---	---	---	NA	NA	NA	NA	NA
ZNF208	7757	broad.mit.edu	37	19	22154074	22154074	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:22154074delT	uc002nqp.2	-	6	3527	c.3378delA	c.(3376-3378)AAAfs	p.K1126fs	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTCTTCACATTTGTAGGGTT	0.383			NA											13	42	---	---	---	---	NA	NA	NA	NA	NA
MED25	81857	broad.mit.edu	37	19	50333452	50333452	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:50333452delC	uc002ppw.1	+	7	849	c.796delC	c.(796-798)CCCfs	p.P266fs	MED25_uc010ybe.1_Intron|MED25_uc002ppx.1_Frame_Shift_Del_p.P47fs	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	mediator complex subunit 25	266	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				ovary(1)	1		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GCAGCCTCTGCCCCCCGTCCC	0.662	GBM(51;894 1657 37868)		NA											16	21	---	---	---	---	NA	NA	NA	NA	NA
NDUFA6	4700	broad.mit.edu	37	22	42486758	42486758	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr22:42486758delG	uc003bcb.2	-	1	131	c.69delC	c.(67-69)TGCfs	p.C23fs	uc003bcc.1_5'Flank|uc003bcd.1_5'Flank	NM_002490	NP_002481	P56556	NDUA6_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	23					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0					NADH(DB00157)	TCTTGCCAAAGCATCCACTCC	0.612			NA									OREG0026602	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	165	---	---	---	---	NA	NA	NA	NA	NA
HLA-A	3105	broad.mit.edu	37	6	29911171	29911171	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr6:29911171delG	uc003nol.2	+	3	470	c.470delG	c.(469-471)TGGfs	p.W157fs	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_RNA|HLA-A_uc010jrq.2_Frame_Shift_Del_p.W36fs|HLA-A_uc003nok.2_Frame_Shift_Del_p.W36fs|HLA-A_uc003non.2_Frame_Shift_Del_p.W157fs|HLA-A_uc003noo.2_Frame_Shift_Del_p.W157fs|HLA-A_uc010jrr.2_Frame_Shift_Del_p.W157fs|HLA-A_uc003nom.2_Frame_Shift_Del_p.W36fs|HLA-A_uc010klp.2_Frame_Shift_Del_p.W129fs|HLA-A_uc011dmc.1_Frame_Shift_Del_p.W36fs|HLA-A_uc011dmd.1_Frame_Shift_Del_p.W36fs	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	157	Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2						CTGCGCTCTTGGACCGCGGCG	0.677			NA							Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)			9	67	---	---	---	---	NA	NA	NA	NA	NA
FOXD4L5	653427	broad.mit.edu	37	9	70177785	70177785	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:70177785delC	uc010moc.2	-	1	1031	c.199delG	c.(199-201)GTTfs	p.V67fs		NM_001126334	NP_001119806	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	67					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						GGAAGCGCAACCCCGCCCCAC	0.567			NA											7	113	---	---	---	---	NA	NA	NA	NA	NA
