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
NPHP4	261734	broad.mit.edu	37	1	5935129	5935129	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:5935129C>T	uc001alq.1	-	21	3115	c.2849G>A	c.(2848-2850)CGG>CAG	p.R950Q		NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	950					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTAGGTCCCGCAAGTGCTG	0.657			NA											12	10					0	0	0.001855	0	0
TNFRSF9	3604	broad.mit.edu	37	1	7997783	7997783	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:7997783T>C	uc001aot.2	-	5	508	c.380A>G	c.(379-381)GAT>GGT	p.D127G		NM_001561	NP_001552	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily,	127	Extracellular (Potential).|TNFR-Cys 4.				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		ACGTTTCTGATCGTTAAATGT	0.328			NA											16	36					0	0	0.001216	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12920106	12920106	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:12920106G>A	uc001aum.1	+	3	933	c.846G>A	c.(844-846)GGG>GGA	p.G282G		NM_023014	NP_075390	O60811	PRAM2_HUMAN	PRAME family member 2	282											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTCAGTGGGCACCTGGAAC	0.458			NA											39	82					0	0	0.005524	0	0
AKR7A3	22977	broad.mit.edu	37	1	19609333	19609333	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:19609333C>A	uc001bbv.1	-	7	965	c.888G>T	c.(886-888)GAG>GAT	p.E296D		NM_012067	NP_036199	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3	296	NADP.				cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity				0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCAAGTTCTGCTCCAGCTGCT	0.612			NA											26	10					9.65963e-10	2.08398e-09	0.003271	1	0
RAP1GAP	5909	broad.mit.edu	37	1	21928252	21928252	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:21928252C>A	uc001bex.2	-	20	1835	c.1577G>T	c.(1576-1578)GGG>GTG	p.G526V	RAP1GAP_uc001bev.2_Missense_Mutation_p.G611V|RAP1GAP_uc001bew.2_Missense_Mutation_p.G590V|RAP1GAP_uc001bey.2_Missense_Mutation_p.G552V	NM_002885	NP_002876	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein isoform c	526					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TGAGACGTGCCCGCTGTCTGG	0.667			NA											12	16					9.05144e-12	2.04756e-11	0.001855	1	0
C1orf201	90529	broad.mit.edu	37	1	24687417	24687417	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:24687417G>A	uc001bjc.2	-	8	987	c.852C>T	c.(850-852)TTC>TTT	p.F284F	C1orf201_uc010oej.1_Intron|C1orf201_uc001bja.2_Silent_p.F237F|C1orf201_uc001bjb.2_Silent_p.F192F|C1orf201_uc001bjd.2_Silent_p.F284F|C1orf201_uc001bje.1_Silent_p.F237F			Q5TH74	CA201_HUMAN	RecName: Full=UPF0490 protein C1orf201;	284										ovary(1)|breast(1)	2		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145)		CACTAGAGATGAAATGCTTGC	0.562			NA											9	85					0	0	0.000443	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26887564	26887564	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:26887564C>T	uc001bmr.1	+	16	1533	c.1370C>T	c.(1369-1371)TCA>TTA	p.S457L	RPS6KA1_uc010ofe.1_Missense_Mutation_p.S365L|RPS6KA1_uc010off.1_Missense_Mutation_p.S441L|RPS6KA1_uc001bms.1_Missense_Mutation_p.S466L|RPS6KA1_uc009vsl.1_Missense_Mutation_p.S300L	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	457	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CGGGATCCTTCAGAAGAGATT	0.547			NA											8	49					0	0	0.004482	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26887581	26887581	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:26887581C>T	uc001bmr.1	+	16	1550	c.1387C>T	c.(1387-1389)CTT>TTT	p.L463F	RPS6KA1_uc010ofe.1_Missense_Mutation_p.L371F|RPS6KA1_uc010off.1_Missense_Mutation_p.L447F|RPS6KA1_uc001bms.1_Missense_Mutation_p.L472F|RPS6KA1_uc009vsl.1_Missense_Mutation_p.L306F	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	463	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GATTGAGATTCTTCTGCGGTA	0.522			NA											10	48					0	0	0.000443	0	0
ARID1A	8289	broad.mit.edu	37	1	27105682	27105682	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:27105682G>T	uc001bmv.1	+	20	5666	c.5293G>T	c.(5293-5295)GAA>TAA	p.E1765*	ARID1A_uc001bmu.1_Nonsense_Mutation_p.E1548*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.E611*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.E93*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.E7*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1765					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGGGGAAGAAGAAGAAGAACT	0.493			NA	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								21	56					1.50039e-11	3.38314e-11	0.001882	1	0
CSF3R	1441	broad.mit.edu	37	1	36934859	36934859	+	Splice_Site	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:36934859C>T	uc001caw.1	-	12	1653	c.1475_splice	c.e12-1	p.E492_splice	CSF3R_uc001cat.1_Splice_Site_p.E55_splice|CSF3R_uc009vvc.1_Intron|CSF3R_uc001cau.1_Splice_Site|CSF3R_uc001cav.1_Splice_Site_p.E492_splice|CSF3R_uc001cax.1_Splice_Site_p.E492_splice|CSF3R_uc001cay.1_Splice_Site_p.E492_splice	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a						cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CTGATGTTCTCTGTAGAGAGA	0.507			NA											18	20					0	0	0.001882	0	0
MACF1	23499	broad.mit.edu	37	1	39782166	39782166	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:39782166C>T	uc010ois.1	+	29	3773	c.3568C>T	c.(3568-3570)CTC>TTC	p.L1190F	MACF1_uc001cda.1_Missense_Mutation_p.L1098F|MACF1_uc001cdc.1_Missense_Mutation_p.L277F|MACF1_uc009vvq.1_Missense_Mutation_p.L247F|MACF1_uc001cdb.1_Missense_Mutation_p.L277F	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1190	LRR 7.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACTGGCAGATCTCTCAGCTCT	0.433			NA											40	71					0	0	0.002852	0	0
MACF1	23499	broad.mit.edu	37	1	39919444	39919444	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:39919444C>T	uc010oiu.1	+	53	16268	c.16137C>T	c.(16135-16137)GTC>GTT	p.V5379V	MACF1_uc010ois.1_Silent_p.V4877V	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	6835	Spectrin 17.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGGAGAAGTCATCCTGGCTG	0.458			NA											10	158					0	0	0.000443	0	0
CCDC30	728621	broad.mit.edu	37	1	43042823	43042823	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:43042823C>A	uc009vwk.1	+	7	1098	c.988C>A	c.(988-990)CAG>AAG	p.Q330K	CCDC30_uc001chm.2_Missense_Mutation_p.Q28K|CCDC30_uc001chn.2_Missense_Mutation_p.Q119K|CCDC30_uc010oju.1_RNA|CCDC30_uc001chp.2_Missense_Mutation_p.Q144K	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	330	Potential.										0						TAAACACACTCAGAGCATTAA	0.403			NA											4	32					0.000602214	0.00115328	0.000602	1	0
LRP8	7804	broad.mit.edu	37	1	53746285	53746285	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:53746285C>T	uc001cvi.1	-	4	612	c.470G>A	c.(469-471)GGA>GAA	p.G157E	LRP8_uc001cvh.1_5'UTR|LRP8_uc001cvk.1_Missense_Mutation_p.G157E|LRP8_uc001cvj.1_Missense_Mutation_p.G157E|LRP8_uc001cvl.1_Missense_Mutation_p.G157E	NM_004631	NP_004622	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein	157	LDL-receptor class A 3.|Extracellular (Potential).				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity				0						CTCATCCGCTCCACCCTCGCA	0.632			NA											4	38					0	0	0.000248	0	0
C8A	731	broad.mit.edu	37	1	57372339	57372339	+	Splice_Site	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:57372339G>T	uc001cyo.2	+	8	1229	c.1097_splice	c.e8-1	p.G366_splice		NM_000562	NP_000553	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide						complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				ovary(1)|central_nervous_system(1)|skin(1)	3						CCCTGTTGCAGGTATTACCAG	0.403			NA											34	53					5.8336e-16	1.38227e-15	0.003271	1	0
DEPDC1	55635	broad.mit.edu	37	1	68948046	68948046	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:68948046C>A	uc001dem.3	-	8	1562	c.1445G>T	c.(1444-1446)GGT>GTT	p.G482V	DEPDC1_uc001dej.3_5'Flank|DEPDC1_uc001dek.3_Intron|DEPDC1_uc001del.3_Intron	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	DEP domain containing 1 isoform a	482					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TCTCTTAAAACCAGCACTGAA	0.368			NA											24	34					6.44725e-10	1.39957e-09	0.002299	1	0
PTBP2	58155	broad.mit.edu	37	1	97270362	97270362	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:97270362C>T	uc001drq.2	+	9	1157	c.911C>T	c.(910-912)CCA>CTA	p.P304L	PTBP2_uc001drn.2_Missense_Mutation_p.P309L|PTBP2_uc001dro.2_Missense_Mutation_p.P304L|PTBP2_uc010otz.1_Missense_Mutation_p.P320L|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Missense_Mutation_p.P252L|PTBP2_uc001drr.2_Missense_Mutation_p.P309L|PTBP2_uc010oua.1_Missense_Mutation_p.P312L|PTBP2_uc001dru.2_RNA|PTBP2_uc001drs.1_5'UTR|PTBP2_uc001drt.2_5'UTR	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	304							nucleotide binding				0		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		GCAGCTGTTCCAGGAGCTCTG	0.378			NA											4	51					0	0	0.000602	0	0
COL11A1	1301	broad.mit.edu	37	1	103471864	103471864	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:103471864C>T	uc001dul.2	-	16	2009	c.1691G>A	c.(1690-1692)CGA>CAA	p.R564Q	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.R576Q|COL11A1_uc001dun.2_Missense_Mutation_p.R525Q|COL11A1_uc009weh.2_Missense_Mutation_p.R448Q	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	564	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTGGACGCCTCGAGGGCCCTA	0.398			NA											5	45					0	0	0.000602	0	0
AMPD1	270	broad.mit.edu	37	1	115218551	115218551	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:115218551C>G	uc001efe.1	-	11	1546	c.1462G>C	c.(1462-1464)GAG>CAG	p.E488Q	AMPD1_uc001eff.1_Missense_Mutation_p.E484Q	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	488					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|large_intestine(1)|skin(1)	4	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	ATGGTGGCCTCAAACACTGGC	0.463			NA											7	97					0	0	0.001984	0	0
IGSF3	3321	broad.mit.edu	37	1	117150605	117150605	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:117150605C>A	uc001egr.1	-	5	1886	c.1181G>T	c.(1180-1182)AGC>ATC	p.S394I	IGSF3_uc001egq.1_Missense_Mutation_p.S394I|IGSF3_uc001egs.1_Missense_Mutation_p.S67I	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	394	Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GGGACGCTTGCTCTCCTTATC	0.507			NA											6	127					0.00307968	0.00574052	0.00308	1	0
NBPF15	284565	broad.mit.edu	37	1	148594619	148594619	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:148594619G>T	uc001esc.2	+	19	2481	c.1992G>T	c.(1990-1992)ATG>ATT	p.M664I		NM_173638	NP_775909	Q8N660	NBPFF_HUMAN	hypothetical protein LOC284565	664	NBPF 6.					cytoplasm					0	all_hematologic(923;0.032)					TGTTCCAGATGGGAGTCATAT	0.443			NA											55	125					1.16018e-38	3.01475e-38	0.00361	1	0
PI4KB	5298	broad.mit.edu	37	1	151288555	151288555	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:151288555C>G	uc001ext.2	-	2	818	c.403G>C	c.(403-405)GAG>CAG	p.E135Q	PI4KB_uc001exr.2_Missense_Mutation_p.E147Q|PI4KB_uc001exs.2_Missense_Mutation_p.E135Q|PI4KB_uc001exu.2_Missense_Mutation_p.E135Q|PI4KB_uc010pcw.1_Intron|PI4KB_uc009wmq.1_Missense_Mutation_p.E147Q	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	catalytic phosphatidylinositol 4-kinase beta	135					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			ovary(2)|skin(2)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGTTTTGACTCAAACAGCCTC	0.522	Colon(154;765 1838 9854 28443 37492)		NA											4	98					0	0	0.000248	0	0
TCHH	7062	broad.mit.edu	37	1	152083562	152083562	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:152083562C>T	uc001ezp.2	-	2	2131	c.2131G>A	c.(2131-2133)GAG>AAG	p.E711K	TCHH_uc009wne.1_Missense_Mutation_p.E711K	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	711					keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGTCGGCCTCGCTTTCTAGC	0.652			NA											24	209					0	0	0.00333	0	0
FLG	2312	broad.mit.edu	37	1	152281732	152281732	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:152281732C>A	uc001ezu.1	-	3	5666	c.5630G>T	c.(5629-5631)GGC>GTC	p.G1877V		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1877	Ser-rich.|Filaggrin 11.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCCTGGAGCCGTCTCCTGA	0.582			NA							Ichthyosis				136	367					1.56226e-53	4.07471e-53	0.00361	1	0
OR10Z1	128368	broad.mit.edu	37	1	158576487	158576487	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:158576487G>T	uc010pio.1	+	1	259	c.259G>T	c.(259-261)GGG>TGG	p.G87W		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	87	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)					TGGCCTGGCTGGGGGGGACCA	0.552			NA											162	135					5.70063e-59	1.50368e-58	0.00361	1	0
SPTA1	6708	broad.mit.edu	37	1	158596715	158596715	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:158596715G>C	uc001fst.1	-	41	5946	c.5747C>G	c.(5746-5748)GCA>GGA	p.A1916G		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1916	Spectrin 18.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					AGCAGCTATTGCCTTAGCCAG	0.458			NA											113	86					0	0	0.00361	0	0
DARC	2532	broad.mit.edu	37	1	159175306	159175306	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:159175306G>A	uc001fto.2	+	2	317	c.77G>A	c.(76-78)TGG>TAG	p.W26*	DARC_uc001ftp.3_Nonsense_Mutation_p.W28*	NM_002036	NP_002027	Q16570	DUFFY_HUMAN	Duffy blood group antigen isoform b	26	Extracellular (Potential).				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			ovary(1)|lung(1)	2	all_hematologic(112;0.0429)					GAAGATGTATGGAATTCTTCC	0.537			NA											39	34					0	0	0.001951	0	0
ATP1A4	480	broad.mit.edu	37	1	160134152	160134152	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:160134152A>C	uc001fve.3	+	7	1464	c.985A>C	c.(985-987)ATC>CTC	p.I329L	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_5'Flank	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	329	Helical; (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTGGAGGCTATCATTTTTCT	0.512			NA											4	272					0	0	0.000602	0	0
CASQ1	844	broad.mit.edu	37	1	160160688	160160688	+	Silent	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:160160688G>C	uc010pja.1	+	1	404	c.147G>C	c.(145-147)GTG>GTC	p.V49V		NM_001231	NP_001222	P31415	CASQ1_HUMAN	calsequestrin 1	49						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			central_nervous_system(1)	1	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGACCGTGTGATCAATGTCA	0.542			NA											5	90					0	0	0.001168	0	0
ITLN1	55600	broad.mit.edu	37	1	160846509	160846509	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:160846509C>G	uc001fxc.2	-	8	1003	c.887G>C	c.(886-888)GGT>GCT	p.G296A		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	intelectin precursor	296					positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)	7	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCTGCTGTAACCAACATGAGT	0.502			NA											43	35					0	0	0.001706	0	0
TNN	63923	broad.mit.edu	37	1	175046636	175046636	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:175046636C>G	uc001gkl.1	+	2	195	c.82C>G	c.(82-84)CTG>GTG	p.L28V	TNN_uc010pmx.1_Missense_Mutation_p.L28V	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	28					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCCAGCCACTCTGGAGCCTCC	0.592			NA											9	66					0	0	0.004482	0	0
LAX1	54900	broad.mit.edu	37	1	203743051	203743051	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:203743051G>A	uc001haa.2	+	5	849	c.439G>A	c.(439-441)GCC>ACC	p.A147T	LAX1_uc010pql.1_Missense_Mutation_p.A131T|LAX1_uc001hab.2_Missense_Mutation_p.A71T	NM_017773	NP_060243	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1 isoform a	147	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)			CCACATCCATGCCACAGAGTA	0.537			NA											31	65					0	0	0.002836	0	0
MIA3	375056	broad.mit.edu	37	1	222805617	222805617	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:222805617C>G	uc001hnl.2	+	5	3289	c.3280C>G	c.(3280-3282)CAT>GAT	p.H1094D	MIA3_uc009xea.1_Missense_Mutation_p.H930D	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1094	Extracellular (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		TGGGGACACTCATGCCTCAGA	0.443			NA											9	117					0	0	0.000978	0	0
HIST3H3	8290	broad.mit.edu	37	1	228612884	228612884	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:228612884G>T	uc001hsx.1	-	1	143	c.143C>A	c.(142-144)GCG>GAG	p.A48E		NM_003493	NP_003484	Q16695	H31T_HUMAN	histone cluster 3, H3	48					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0		Prostate(94;0.0724)				CTCGCGAAGCGCCACCGTGCC	0.657			NA											67	64					2.36135e-34	6.06833e-34	0.00361	1	0
CAPN9	10753	broad.mit.edu	37	1	230904925	230904925	+	Splice_Site	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:230904925G>C	uc001htz.1	+	6	819	c.706_splice	c.e6-1	p.T236_splice	CAPN9_uc009xfg.1_Splice_Site_p.T173_splice|CAPN9_uc001hua.1_Splice_Site_p.T236_splice	NM_006615	NP_006606	O14815	CAN9_HUMAN	calpain 9 isoform 1						digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)	1	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CCATGTTTTAGACCAGAAGTG	0.547			NA											3	144					0	0	0.000248	0	0
OR2G3	81469	broad.mit.edu	37	1	247769413	247769413	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:247769413C>T	uc010pyz.1	+	1	526	c.526C>T	c.(526-528)CAT>TAT	p.H176Y		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	176	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TAGGCTGGACCATTTTATTTG	0.448			NA											67	48					0	0	0.00361	0	0
AKR1C1	1645	broad.mit.edu	37	10	5008225	5008225	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr10:5008225G>C	uc001iho.2	+	7	1045	c.204G>C	c.(202-204)AAG>AAC	p.K68N	AKR1E2_uc001ihl.1_Intron|AKR1C2_uc010qan.1_Intron|AKR1C3_uc001ihr.2_Missense_Mutation_p.K68N|AKR1C1_uc009xhx.2_Missense_Mutation_p.K68N|AKR1C1_uc001ihq.2_Missense_Mutation_p.K68N	NM_001353	NP_001344	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	68					bile acid and bile salt transport|bile acid metabolic process|cholesterol homeostasis|intestinal cholesterol absorption|protein homooligomerization|response to organophosphorus|xenobiotic metabolic process	cytosol	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid binding|indanol dehydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			ovary(2)	2					NADH(DB00157)	TCCGAAGCAAGATTGCAGATG	0.433	Colon(130;2054 2316 13360 15380)		NA											32	35					0	0	0.003755	0	0
APBB1IP	54518	broad.mit.edu	37	10	26785270	26785270	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr10:26785270A>T	uc001iss.2	+	4	431	c.110A>T	c.(109-111)AAT>ATT	p.N37I	APBB1IP_uc001isr.2_Missense_Mutation_p.N37I|APBB1IP_uc009xks.1_Missense_Mutation_p.N37I	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding,	37					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				lung(4)|skin(2)|central_nervous_system(1)	7						CCTGACCCTAATCCACCCAGA	0.353			NA											19	42					0	0	0.002299	0	0
ANKRD26	22852	broad.mit.edu	37	10	27366275	27366275	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr10:27366275G>C	uc001ith.2	-	9	1241	c.1069C>G	c.(1069-1071)CTT>GTT	p.L357V	ANKRD26_uc001itg.2_Missense_Mutation_p.L76V|ANKRD26_uc009xku.1_Missense_Mutation_p.L357V	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	357						centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						ACCTTCATAAGACCAGGGTTT	0.348			NA											8	62					0	0	0.00308	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702381	27702381	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr10:27702381G>T	uc001itu.2	-	1	917	c.799C>A	c.(799-801)CCG>ACG	p.P267T		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	267					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						TACAGGATCGGGTTGGGGGGC	0.647			NA											12	21					0.000978159	0.00185294	0.000978	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	A	G	rs2257765		TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr10:38654432A>G	uc010qex.1	+	5	599	c.524A>G	c.(523-525)AAT>AGT	p.N175S	HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270);												0						TCATCTCGCAATGCAAGGAAA	0.453			NA											4	38					0	0	0.000248	0	0
RBP3	5949	broad.mit.edu	37	10	48388286	48388286	+	Silent	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr10:48388286C>A	uc001jez.2	-	1	2706	c.2592G>T	c.(2590-2592)CGG>CGT	p.R864R		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	864	4 X approximate tandem repeats.|3.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	TGACCGTGGCCCGCTGCAGGT	0.642			NA											6	17					0.00116845	0.00220741	0.001168	1	0
PPA1	5464	broad.mit.edu	37	10	71966081	71966081	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr10:71966081G>A	uc001jqv.1	-	9	841	c.734C>T	c.(733-735)ACA>ATA	p.T245I		NM_021129	NP_066952	Q15181	IPYR_HUMAN	pyrophosphatase 1	245					diphosphate metabolic process|tRNA aminoacylation for protein translation	cytosol	inorganic diphosphatase activity|magnesium ion binding			breast(1)	1						AGACAAAGTTGTATTCATGCT	0.343			NA											11	15					0	0	0.000978	0	0
MYOZ1	58529	broad.mit.edu	37	10	75397659	75397659	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr10:75397659A>G	uc001jur.2	-	3	460	c.95T>C	c.(94-96)TTG>TCG	p.L32S		NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN	myozenin 1	32					myofibril assembly	nucleus|pseudopodium	FATZ binding			ovary(2)	2	Prostate(51;0.0112)					GCCCAGGTTCAAGCCTGAGCT	0.512			NA											11	134					0	0	0.001368	0	0
DLG5	9231	broad.mit.edu	37	10	79553869	79553869	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr10:79553869C>G	uc001jzk.2	-	31	5623	c.5553G>C	c.(5551-5553)CAG>CAC	p.Q1851H	DLG5_uc001jzi.2_Missense_Mutation_p.Q606H|DLG5_uc001jzj.2_Missense_Mutation_p.Q1266H	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1851	Guanylate kinase-like.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGGGGTCTCTCTGCTCCCTGT	0.587			NA											4	77					0	0	0.000248	0	0
CNNM1	26507	broad.mit.edu	37	10	101090472	101090472	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr10:101090472G>T	uc001kpp.3	+	1	1617	c.1328G>T	c.(1327-1329)CGC>CTC	p.R443L	CNNM1_uc009xwe.2_Missense_Mutation_p.R443L|CNNM1_uc010qpi.1_Missense_Mutation_p.R443L|CNNM1_uc009xwf.2_Missense_Mutation_p.R443L	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	cyclin M1	443	CBS 1.				ion transport	integral to membrane|plasma membrane					0		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TTCATGCTGCGCTCAGACGCG	0.612			NA											19	20					1.10923e-09	2.37838e-09	0.00278	1	0
PNLIPRP1	5407	broad.mit.edu	37	10	118360673	118360673	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr10:118360673G>C	uc001lco.1	+	10	1041	c.1023G>C	c.(1021-1023)CAG>CAC	p.Q341H	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.Q341H	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1 precursor	341					lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)		AAGAGCAGCAGAAATTCTTCT	0.438			NA											3	46					0	0	0.004672	0	0
HTRA1	5654	broad.mit.edu	37	10	124248975	124248975	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr10:124248975G>T	uc001lgj.2	+	3	738	c.610G>T	c.(610-612)GGG>TGG	p.G204W		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1 precursor	204	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				GGTGGCTAGTGGGTCTGGGTT	0.493			NA											43	65					1.51926e-22	3.80631e-22	0.00361	1	0
NKX6-2	84504	broad.mit.edu	37	10	134598651	134598651	+	Silent	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr10:134598651G>T	uc001llr.2	-	3	688	c.603C>A	c.(601-603)ACC>ACA	p.T201T		NM_177400	NP_796374	Q9C056	NKX62_HUMAN	NK6 transcription factor related, locus 2	201	Homeobox.					nucleus	sequence-specific DNA binding transcription factor activity				0		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)		TGCGCCACTTGGTCCGGCGGT	0.637			NA											13	19					1.05317e-09	2.26513e-09	0.00245	1	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651399	1651399	+	Missense_Mutation	SNP	G	G	A	rs77602976		TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:1651399G>A	uc001lty.2	+	1	367	c.329G>A	c.(328-330)GGC>GAC	p.G110D		NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	110	8 X 4 AA repeats of C-C-X-P.			Missing (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament				lung(1)	1		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGGGCCTGTGGCTCCTGTGGG	0.692			NA											26	47					0	0	0.001271	0	0
OR51V1	283111	broad.mit.edu	37	11	5220994	5220994	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:5220994G>T	uc010qyz.1	-	1	937	c.937C>A	c.(937-939)CTT>ATT	p.L313I		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V,	313	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGAGTCTAAGCATTCTGGTA	0.373			NA											9	31					0.000274275	0.000529609	0.004482	1	0
OR52H1	390067	broad.mit.edu	37	11	5566148	5566148	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:5566148G>A	uc010qzh.1	-	1	606	c.606C>T	c.(604-606)ATC>ATT	p.I202I	HBG2_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H,	202	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCAGAAGTTGATGGAGATAT	0.498			NA											5	48					0	0	0.000602	0	0
SOX6	55553	broad.mit.edu	37	11	16208467	16208467	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:16208467C>A	uc001mme.2	-	5	642	c.609G>T	c.(607-609)CAG>CAT	p.Q203H	SOX6_uc001mmd.2_Missense_Mutation_p.Q193H|SOX6_uc001mmf.2_Missense_Mutation_p.Q190H|SOX6_uc001mmg.2_Missense_Mutation_p.Q190H	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	190	Potential.				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3						TGGTGGAGAGCTGCCGTTCTT	0.473			NA											52	82					8.99859e-20	2.21479e-19	0.00361	1	0
PTPN5	84867	broad.mit.edu	37	11	18763858	18763858	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:18763858C>T	uc001mpd.2	-	7	1107	c.676G>A	c.(676-678)GAG>AAG	p.E226K	PTPN5_uc001mpb.2_Missense_Mutation_p.E194K|PTPN5_uc001mpc.2_Missense_Mutation_p.E226K|PTPN5_uc001mpe.2_Missense_Mutation_p.E194K|PTPN5_uc010rdj.1_Missense_Mutation_p.E170K|PTPN5_uc001mpf.2_Missense_Mutation_p.E202K|PTPN5_uc010rdk.1_Missense_Mutation_p.E171K	NM_006906	NP_008837	P54829	PTN5_HUMAN	protein-tyrosine-phosphatase non-receptor 5	226						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(2)	2						GGGTCAGCCTCAGGCTTGATG	0.597			NA											10	77					0	0	0.000673	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956162	18956162	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:18956162C>T	uc001mpg.2	-	1	388	c.170G>A	c.(169-171)CGC>CAC	p.R57H		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	57	Cytoplasmic (Potential).				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3						GGCGTTCCTGCGCATGCGGCA	0.557			NA											41	135					0	0	0.001706	0	0
SLC5A12	159963	broad.mit.edu	37	11	26702698	26702698	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:26702698G>T	uc001mra.2	-	12	1692	c.1379C>A	c.(1378-1380)CCT>CAT	p.P460H	SLC5A12_uc001mrb.2_RNA	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/glucose	460	Extracellular (Potential).				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(1)|skin(1)	2						GGCTGGTGCAGGGTAAATGAA	0.473			NA											12	15					0.000978159	0.00185294	0.000978	1	0
CAT	847	broad.mit.edu	37	11	34492577	34492577	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:34492577G>A	uc001mvm.2	+	12	1590	c.1507G>A	c.(1507-1509)GAG>AAG	p.E503K	CAT_uc001mvn.2_Missense_Mutation_p.E112K	NM_001752	NP_001743	P04040	CATA_HUMAN	catalase	503					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			ovary(2)|pancreas(1)	3		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	GTACAATGCTGAGAAGCCTAA	0.512			NA											38	68					0	0	0.005524	0	0
LRP4	4038	broad.mit.edu	37	11	46880824	46880825	+	Missense_Mutation	DNP	CG	CG	AA			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:46880824_46880825CG>AA	uc001ndn.3	-	38	5573_5574	c.5427_5428CG>TT	c.(5425-5430)ATCGTA>ATTTTA	p.V1810L	uc001ndl.2_Intron|LRP4_uc001ndm.3_Missense_Mutation_p.V52L	NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	1810	Cytoplasmic (Potential).				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)		ATTCCCTCTACGATCTTGATCT	0.55			NA											24	32					0	0	0.004672	0	0
OR4C16	219428	broad.mit.edu	37	11	55339784	55339784	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:55339784C>T	uc010rih.1	+	1	181	c.181C>T	c.(181-183)CTT>TTT	p.L61F		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	61	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)				GTTCTTCTTCCTTTTCTACTT	0.398			NA											36	72					0	0	0.003271	0	0
OR4S2	219431	broad.mit.edu	37	11	55419048	55419048	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:55419048G>A	uc001nhs.1	+	1	669	c.669G>A	c.(667-669)CTG>CTA	p.L223L		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S,	223	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.0748)				TAGTTTCCCTGAGAAAGCAGT	0.483			NA											6	109					0	0	0.001168	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947780	57947780	+	Silent	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:57947780C>A	uc001nmj.2	+	3	1180	c.864C>A	c.(862-864)ATC>ATA	p.I288I		NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q,	288	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.222)				ATCCCCTCATCTACAGCCTGA	0.463			NA											25	48					6.38683e-12	1.44948e-11	0.001512	1	0
AHNAK	79026	broad.mit.edu	37	11	62298096	62298096	+	Missense_Mutation	SNP	G	G	A	rs150191644		TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:62298096G>A	uc001ntl.2	-	5	4093	c.3793C>T	c.(3793-3795)CCT>TCT	p.P1265S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1265					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TTGAAGCCAGGCATGCTAAAC	0.522			NA											137	254					0	0	0.00361	0	0
SCYL1	57410	broad.mit.edu	37	11	65293594	65293594	+	Splice_Site	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:65293594G>A	uc001oea.1	+	4	453	c.376_splice	c.e4-1	p.K126_splice	SCYL1_uc009yqk.2_Splice_Site_p.K126_splice|SCYL1_uc001oeb.1_Splice_Site_p.K126_splice|SCYL1_uc001oec.1_Splice_Site_p.K126_splice|SCYL1_uc001oed.1_Splice_Site	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	SCY1-like 1 isoform A						regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			skin(1)	1						TTTGCCCCCAGAAAGCCCTCA	0.627			NA											19	17					0	0	0.001216	0	0
KDM2A	22992	broad.mit.edu	37	11	67021879	67021879	+	Silent	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:67021879C>G	uc001ojw.2	+	20	4161	c.3297C>G	c.(3295-3297)CTC>CTG	p.L1099L	KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Silent_p.L793L|KDM2A_uc001ojz.1_Silent_p.L557L|KDM2A_uc001oka.2_Silent_p.L223L	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	1099	LRR 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(4)|lung(3)|breast(1)|skin(1)	9						TCACAGAGCTCAATATGGCAG	0.537			NA											35	54					0	0	0.001287	0	0
ARRB1	408	broad.mit.edu	37	11	75001077	75001077	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:75001077G>A	uc001owe.1	-	2	249	c.27C>T	c.(25-27)TTC>TTT	p.F9F	ARRB1_uc001owf.1_Silent_p.F9F	NM_004041	NP_004032	P49407	ARRB1_HUMAN	arrestin beta 1 isoform A	9	Interaction with SRC (By similarity).				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(2)	2						TGGCCTTCTTGAACACTCTGT	0.587			NA											27	39					0	0	0.002096	0	0
GAB2	9846	broad.mit.edu	37	11	77991824	77991824	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:77991824C>T	uc001ozh.2	-	2	199	c.199G>A	c.(199-201)GAG>AAG	p.E67K	GAB2_uc001ozg.2_Missense_Mutation_p.E29K	NM_080491	NP_536739	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2 isoform a	67	PH.				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity			ovary(5)|lung(1)	6	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TCTACCTGCTCACAGAAGTTC	0.507			NA											41	61					0	0	0.001951	0	0
CREBZF	58487	broad.mit.edu	37	11	85375271	85375271	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:85375271C>T	uc001pas.2	-	1	912	c.649G>A	c.(649-651)GCT>ACT	p.A217T	CREBZF_uc010rtc.1_RNA|CREBZF_uc010rtd.1_RNA	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN	HCF-binding transcription factor Zhangfei	217	Basic motif.				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				AGGCGGgcagcggccgccgcc	0.294	NSCLC(172;674 2044 9050 18334 41735)		NA									OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	66					0	0	0.000673	0	0
ATM	472	broad.mit.edu	37	11	108196896	108196896	+	Missense_Mutation	SNP	C	C	T	rs56009889	byFrequency	TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:108196896C>T	uc001pkb.1	+	47	7304	c.6919C>T	c.(6919-6921)CTT>TTT	p.L2307F	ATM_uc009yxr.1_Missense_Mutation_p.L2307F|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.L959F|ATM_uc001pkg.1_Missense_Mutation_p.L664F	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2307	FAT.		L -> F.		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GGAGCAGAGTCTTGCCCTGAG	0.403			NA	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			17	24					0	0	0.006122	0	0
MLL	4297	broad.mit.edu	37	11	118375477	118375477	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:118375477A>G	uc001pta.2	+	27	8884	c.8861A>G	c.(8860-8862)GAC>GGC	p.D2954G	MLL_uc001ptb.2_Missense_Mutation_p.D2957G	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2954					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GTTATCTCAGACTCAGGGGAG	0.517			NA	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								21	39					0	0	0.001882	0	0
TRAPPC4	51399	broad.mit.edu	37	11	118892538	118892538	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:118892538G>A	uc010ryo.1	+	4	788	c.523G>A	c.(523-525)GAG>AAG	p.E175K	TRAPPC4_uc010ryp.1_Missense_Mutation_p.E121K|TRAPPC4_uc001pup.2_RNA|TRAPPC4_uc010ryq.1_Intron	NM_016146	NP_057230	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4	175					dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		AAAGATTTATGAGATTTACTC	0.438			NA											8	77					0	0	0.00308	0	0
OR6M1	390261	broad.mit.edu	37	11	123676362	123676362	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:123676362C>T	uc010rzz.1	-	1	696	c.696G>A	c.(694-696)CAG>CAA	p.Q232Q		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M,	232	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		AAAAAGCTTTCTGACGGCCCT	0.512			NA											4	31					0	0	0.000248	0	0
OR10G7	390265	broad.mit.edu	37	11	123908901	123908901	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:123908901C>A	uc001pzq.1	-	1	808	c.808G>T	c.(808-810)GTT>TTT	p.V270F		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G,	270	Helical; Name=7; (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)		ACGGCCACAACCCCATGCAAG	0.507			NA											23	35					1.10513e-12	2.52447e-12	0.002299	1	0
PRB4	5545	broad.mit.edu	37	12	11463272	11463272	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:11463272C>A	uc001qzf.1	-	1	95	c.61G>T	c.(61-63)GAA>TAA	p.E21*	PRB4_uc001qzt.2_Nonsense_Mutation_p.E21*	NM_002723	NP_002714	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	21						extracellular region				ovary(1)	1						GTTTTACCTTCACTTGAACTC	0.532			NA								HNSCC(22;0.051)			54	100					1.7104e-27	4.36339e-27	0.00361	1	0
GRIN2B	2904	broad.mit.edu	37	12	13761752	13761752	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:13761752A>T	uc001rbt.2	-	9	1974	c.1795T>A	c.(1795-1797)TCT>ACT	p.S599T		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	599	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGGTGAAAGAGGGTCCACCA	0.502			NA											19	32					0	0	0.001523	0	0
SOX5	6660	broad.mit.edu	37	12	24048791	24048791	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:24048791G>T	uc001rfw.2	-	2	308	c.206C>A	c.(205-207)CCA>CAA	p.P69Q	SOX5_uc001rfx.2_Missense_Mutation_p.P56Q|SOX5_uc001rfy.2_Missense_Mutation_p.P56Q|SOX5_uc010siv.1_Missense_Mutation_p.P56Q|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Intron|SOX5_uc001rga.2_Intron	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	69					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						CAGAGAAACTGGCTGAAATTC	0.488			NA											77	123					1.19893e-55	3.13876e-55	0.00361	1	0
ITPR2	3709	broad.mit.edu	37	12	26835601	26835601	+	Nonsense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:26835601G>C	uc001rhg.2	-	12	1571	c.1154C>G	c.(1153-1155)TCA>TGA	p.S385*		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	385	Cytoplasmic (Potential).|MIR 5.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					CCGAACATATGAGTTCCTAAA	0.294			NA											3	48					0	0	0.004672	0	0
ALG10B	144245	broad.mit.edu	37	12	38714293	38714293	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:38714293C>G	uc001rln.3	+	3	839	c.700C>G	c.(700-702)CTT>GTT	p.L234V	ALG10B_uc001rlo.3_Missense_Mutation_p.L204V|ALG10B_uc010skk.1_Missense_Mutation_p.L174V	NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	asparagine-linked glycosylation 10 homolog B	234	Cytoplasmic (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			ovary(2)|skin(1)	3	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				CAGAAAAATTCTTCAGTTTCT	0.373			NA											7	95					0	0	0.00308	0	0
EIF4B	1975	broad.mit.edu	37	12	53421875	53421875	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:53421875C>T	uc001sbh.3	+	8	1088	c.882C>T	c.(880-882)GGC>GGT	p.G294G	EIF4B_uc010snu.1_Silent_p.G294G|EIF4B_uc010snv.1_Silent_p.G255G|EIF4B_uc001sbi.2_Silent_p.G46G	NM_001417	NP_001408	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	294	Arg-rich.|Asp-rich.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(1)|kidney(1)	2						ACAGAGGAGGCGGGGACCGCT	0.488			NA											10	74					0	0	0.000673	0	0
MAP3K12	7786	broad.mit.edu	37	12	53879207	53879207	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:53879207T>A	uc001sdm.1	-	6	873	c.775A>T	c.(775-777)AAG>TAG	p.K259*	MAP3K12_uc001sdn.1_Nonsense_Mutation_p.K292*	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	259	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)|skin(1)	5						CTCAGCTCCTTGGAAGTGCCA	0.532			NA											84	143					0	0	0.00361	0	0
OR9K2	441639	broad.mit.edu	37	12	55524082	55524082	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:55524082G>T	uc010spe.1	+	1	530	c.530G>T	c.(529-531)GGC>GTC	p.G177V		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K,	177	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2						TATTTTTGTGGCTGCATTAGC	0.453			NA											37	62					2.75727e-19	6.76257e-19	0.004878	1	0
DPY19L2	283417	broad.mit.edu	37	12	64062106	64062106	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:64062106C>A	uc001srp.1	-	1	249	c.68G>T	c.(67-69)CGC>CTC	p.R23L	DPY19L2_uc009zqk.1_RNA	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	dpy-19-like 2	23					multicellular organismal development|spermatid development	integral to membrane				central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GGAGGCCCCGCGCCGCCCCTT	0.622			NA											14	21					2.62699e-14	6.12088e-14	0.003163	1	0
PWP1	11137	broad.mit.edu	37	12	108086843	108086843	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:108086843G>A	uc001tmo.1	+	5	559	c.472G>A	c.(472-474)GAA>AAA	p.E158K	PWP1_uc001tmn.1_RNA|PWP1_uc009zuu.1_Missense_Mutation_p.E158K	NM_007062	NP_008993	Q13610	PWP1_HUMAN	periodic tryptophan protein 1	158					transcription, DNA-dependent	nucleus					0						TGGCCGAGCTGAACAGGACCA	0.338			NA											4	36					0	0	0.000248	0	0
WSCD2	9671	broad.mit.edu	37	12	108604015	108604015	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:108604015C>A	uc001tms.2	+	4	1359	c.615C>A	c.(613-615)AGC>AGA	p.S205R	WSCD2_uc001tmt.2_Missense_Mutation_p.S205R	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	205	WSC 1.					integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3						AGCGAGGCAGCGTGTGCGGCG	0.682			NA											11	5					4.68919e-08	9.66886e-08	0.000673	1	0
SSH1	54434	broad.mit.edu	37	12	109182309	109182309	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:109182309C>A	uc001tnm.2	-	15	2692	c.2605G>T	c.(2605-2607)GGC>TGC	p.G869C	SSH1_uc001tnl.2_Missense_Mutation_p.G557C	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	slingshot 1 isoform 1	869					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(4)	4						ACCAGGGGGCCCAGCTCGTGG	0.672			NA											24	28					5.35356e-11	1.18798e-10	0.00278	1	0
MYO1H	283446	broad.mit.edu	37	12	109862602	109862602	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:109862602C>A	uc010sxn.1	+	16	1646	c.1646C>A	c.(1645-1647)GCC>GAC	p.A549D		NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN	myosin 1H	Error:Variant_position_missing_in_B4DNW6_after_alignment						myosin complex	motor activity				0						TTCCTGCTGGCCGAGTTAGAA	0.493			NA											12	13					0.00136819	0.00257781	0.001368	1	0
KDM2B	84678	broad.mit.edu	37	12	121881557	121881557	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:121881557G>A	uc001uat.2	-	17	2595	c.2491C>T	c.(2491-2493)CTC>TTC	p.L831F	KDM2B_uc001uaq.2_Missense_Mutation_p.L271F|KDM2B_uc010szy.1_Missense_Mutation_p.L271F|KDM2B_uc001uar.2_Missense_Mutation_p.L422F|KDM2B_uc001uas.2_Intron|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.L79F|KDM2B_uc010szx.1_Missense_Mutation_p.L79F|KDM2B_uc001uap.2_RNA	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	831					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						CTCGGCGAGAGGTGAGAGGAG	0.627			NA									OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	44					0	0	0.001855	0	0
TMEM120B	144404	broad.mit.edu	37	12	122150869	122150869	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:122150869A>T	uc001ubc.3	+	1	212	c.68A>T	c.(67-69)CAG>CTG	p.Q23L	TMEM120B_uc009zxh.2_Missense_Mutation_p.Q23L	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN	transmembrane protein 120B	23	Potential.					integral to membrane					0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		CAAGAACTGCAGGTAGGGCCA	0.701			NA											7	12					0	0	0.001984	0	0
SACS	26278	broad.mit.edu	37	13	23913577	23913577	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr13:23913577C>A	uc001uon.2	-	10	5027	c.4438G>T	c.(4438-4440)GAA>TAA	p.E1480*	SACS_uc001uoo.2_Nonsense_Mutation_p.E1333*|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1480					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGAAGTAGTTCTTTAAAAATA	0.363			NA											17	39					1.67942e-08	3.48342e-08	0.006122	1	0
CENPJ	55835	broad.mit.edu	37	13	25479865	25479865	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr13:25479865C>T	uc001upt.3	-	7	2564	c.2311G>A	c.(2311-2313)GAA>AAA	p.E771K	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA|CENPJ_uc001upu.2_5'Flank	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	771					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTTATGCTTTCCATGATAGAC	0.408			NA											11	114					0	0	0.00245	0	0
MTUS2	23281	broad.mit.edu	37	13	29600969	29600969	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr13:29600969G>T	uc001usl.3	+	1	2222	c.2164G>T	c.(2164-2166)GGA>TGA	p.G722*		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	712	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						CTTCAGTTCCGGATTGATGGT	0.483			NA											17	33					1.5739e-10	3.4815e-10	0.004007	1	0
C13orf33	84935	broad.mit.edu	37	13	31495969	31495969	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr13:31495969G>T	uc001uth.3	+	4	1114	c.773G>T	c.(772-774)AGT>ATT	p.S258I	uc001utg.1_Intron	NM_032849	NP_116238	Q5VYS4	CM033_HUMAN	hypothetical protein LOC84935	258											0		Lung SC(185;0.0281)		all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244)		CGAAAGTTCAGTGTAACTTCC	0.358			NA											12	30					4.36969e-10	9.54504e-10	0.001855	1	0
COG3	83548	broad.mit.edu	37	13	46050481	46050481	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr13:46050481A>G	uc001vak.2	+	2	421	c.320A>G	c.(319-321)CAG>CGG	p.Q107R	COG3_uc010tfu.1_RNA|COG3_uc001vai.2_Missense_Mutation_p.Q107R|COG3_uc001vaj.1_Missense_Mutation_p.Q107R|COG3_uc010tfv.1_5'UTR|COG3_uc010aci.2_5'UTR	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	component of golgi transport complex 3	107				QQ -> HE (in Ref. 1; AAK66974).	ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|skin(1)	2		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		ACCGCACAGCAGGTGAATTGC	0.373	Ovarian(150;1048 1859 18083 21577 42700)		NA											8	28					0	0	0.00308	0	0
COG3	83548	broad.mit.edu	37	13	46050484	46050484	+	Splice_Site	SNP	T	T	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr13:46050484T>A	uc001vak.2	+	2	422	c.321_splice	c.e2+2	p.Q107_splice	COG3_uc010tfu.1_Splice_Site|COG3_uc001vai.2_Splice_Site_p.Q107_splice|COG3_uc001vaj.1_Splice_Site_p.Q107_splice|COG3_uc010tfv.1_Splice_Site|COG3_uc010aci.2_Splice_Site	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	component of golgi transport complex 3						ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|skin(1)	2		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		GCACAGCAGGTGAATTGCAGT	0.373	Ovarian(150;1048 1859 18083 21577 42700)		NA											9	27					0	0	0.004482	0	0
PCDH17	27253	broad.mit.edu	37	13	58208112	58208112	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr13:58208112G>T	uc001vhq.1	+	1	2324	c.1432G>T	c.(1432-1434)GTG>TTG	p.V478L	PCDH17_uc010aec.1_Missense_Mutation_p.V478L	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	478	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGGGCTCTACGTGCTTCAGGT	0.602	Melanoma(72;952 1291 1619 12849 33676)		NA											13	18					0.000151284	0.000296212	0.001855	1	0
OR4K2	390431	broad.mit.edu	37	14	20344916	20344916	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr14:20344916C>A	uc001vwh.1	+	1	490	c.490C>A	c.(490-492)CTC>ATC	p.L164I		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K,	164	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATATTTGCCCTCACGTTACC	0.483			NA											27	522					4.59853e-10	1.00136e-09	0.005443	1	0
OR11H6	122748	broad.mit.edu	37	14	20692590	20692590	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr14:20692590G>T	uc010tlc.1	+	1	722	c.722G>T	c.(721-723)AGA>ATA	p.R241I		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H,	241	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CTGGTCATCAGAGCTGTGCTT	0.473			NA											22	18					5.35356e-11	1.18798e-10	0.00278	1	0
ADCY4	196883	broad.mit.edu	37	14	24787633	24787633	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr14:24787633T>G	uc001wov.2	-	25	3229	c.3223A>C	c.(3223-3225)ACC>CCC	p.T1075P	ADCY4_uc001wow.2_Missense_Mutation_p.T1075P|ADCY4_uc010toh.1_Missense_Mutation_p.T761P|ADCY4_uc001wox.2_Missense_Mutation_p.T1075P|ADCY4_uc001woy.2_Missense_Mutation_p.T1075P	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	1075	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		CAGCCTAGGGTAGCTGAAGGA	0.527			NA											12	20					0	0	0.001368	0	0
ARHGAP5	394	broad.mit.edu	37	14	32624010	32624010	+	Silent	SNP	A	A	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr14:32624010A>G	uc001wrl.2	+	7	4604	c.4365A>G	c.(4363-4365)GTA>GTG	p.V1455V	ARHGAP5_uc001wrm.2_Silent_p.V1454V|ARHGAP5_uc001wrn.2_Silent_p.V1455V|ARHGAP5_uc001wro.2_Silent_p.V194V|ARHGAP5_uc001wrp.2_Silent_p.V190V	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	1455					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GAGAAATTGTAGAAACGACAA	0.428	NSCLC(9;77 350 3443 29227 41353)		NA											17	33					0	0	0.004007	0	0
MDGA2	161357	broad.mit.edu	37	14	47342758	47342758	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr14:47342758A>T	uc001wwj.3	-	14	2619	c.2423T>A	c.(2422-2424)TTG>TAG	p.L808*	MDGA2_uc001wwh.3_Nonsense_Mutation_p.L10*|MDGA2_uc001wwi.3_Nonsense_Mutation_p.L579*|MDGA2_uc010ani.2_Nonsense_Mutation_p.L368*	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	808	MAM.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						TTCGCCTTCCAATCTGGGTCG	0.363			NA											44	63					0	0	0.002852	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68222664	68222664	+	Splice_Site	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr14:68222664C>A	uc001xka.2	-	36	6925	c.6786_splice	c.e36+1	p.K2262_splice	ZFYVE26_uc010tsz.1_Splice_Site|ZFYVE26_uc001xkb.2_Splice_Site_p.K108_splice	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26						cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCTGCCATTACCTTCATAAAC	0.517			NA											90	129					6.44939e-38	1.66968e-37	0.00361	1	0
ENTPD5	957	broad.mit.edu	37	14	74443113	74443113	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr14:74443113G>C	uc010tuo.1	-	9	867	c.556C>G	c.(556-558)CAG>GAG	p.Q186E	ENTPD5_uc001xpi.2_Missense_Mutation_p.Q186E	NM_001249	NP_001240	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	186					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00394)		CCATGCAGCTGACCTGTCAAA	0.512			NA											8	52					0	0	0.004482	0	0
KIAA1737	85457	broad.mit.edu	37	14	77580090	77580090	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr14:77580090C>G	uc001xtd.2	+	4	808	c.629C>G	c.(628-630)TCC>TGC	p.S210C	KIAA1737_uc001xtc.1_Missense_Mutation_p.S112C	NM_033426	NP_219494	Q9C0C6	K1737_HUMAN	KIAA1737 protein	210											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		GCTGTCCCATCCAGTCCCTCG	0.562			NA											4	45					0	0	0.000248	0	0
TC2N	123036	broad.mit.edu	37	14	92258854	92258854	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr14:92258854G>C	uc001xzu.3	-	9	1095	c.904C>G	c.(904-906)CTA>GTA	p.L302V	TC2N_uc001xzt.3_Missense_Mutation_p.L302V|TC2N_uc010auc.2_Intron|TC2N_uc001xzv.3_Missense_Mutation_p.L302V	NM_001128595	NP_001122067	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	302						nucleus				upper_aerodigestive_tract(1)	1				COAD - Colon adenocarcinoma(157;0.218)		ACAGTTTGTAGATTTTGAAGT	0.313			NA											3	50					0	0	0.004672	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030088	95030088	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr14:95030088C>T	uc001ydk.2	+	2	335	c.269C>T	c.(268-270)TCC>TTC	p.S90F	SERPINA4_uc010avd.2_Missense_Mutation_p.S127F|SERPINA4_uc001ydl.2_Missense_Mutation_p.S90F	NM_006215	NP_006206	P29622	KAIN_HUMAN	serine (or cysteine) proteinase inhibitor, clade	90					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			ovary(3)|skin(1)	4				COAD - Colon adenocarcinoma(157;0.211)		GCCATGCTTTCCCTGGGGGCC	0.607			NA											27	26					0	0	0.004656	0	0
OR4N4	283694	broad.mit.edu	37	15	22382892	22382892	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:22382892C>T	uc001yuc.1	+	7	1401	c.420C>T	c.(418-420)GCC>GCT	p.A140A	LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Silent_p.A140A	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	140	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ACCCTAGAGCCTGCTATGCAA	0.542			NA											52	160					0	0	0.00361	0	0
GOLGA8F	100132565	broad.mit.edu	37	15	28632820	28632820	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:28632820T>C	uc010uag.1	+	15	1476	c.1352T>C	c.(1351-1353)CTG>CCG	p.L451P	GOLGA8G_uc001zbp.3_Missense_Mutation_p.L245P|GOLGA8G_uc001zbo.2_Intron|GOLGA8G_uc001zbn.2_Missense_Mutation_p.L249P	NM_001164328	NP_001157800			golgi autoantigen, golgin subfamily a, 8F												0						CCACAGGACCTGGAGAGCAGG	0.617			NA											4	56					0	0	0.001984	0	0
OTUD7A	161725	broad.mit.edu	37	15	31819488	31819488	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:31819488C>T	uc001zfq.2	-	5	769	c.676G>A	c.(676-678)GAC>AAC	p.D226N	OTUD7A_uc001zfr.2_Missense_Mutation_p.D226N	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	226	OTU.|Catalytic (By similarity).|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		AACACCAGGTCCCGGTCGTGA	0.557			NA											16	82					0	0	0.004007	0	0
C15orf55	256646	broad.mit.edu	37	15	34649603	34649603	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:34649603C>A	uc001zif.2	+	7	3465	c.3310C>A	c.(3310-3312)CTG>ATG	p.L1104M	C15orf55_uc010ucc.1_Missense_Mutation_p.L1132M|C15orf55_uc010ucd.1_Missense_Mutation_p.L1122M	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	1104						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		ACCCCTAGCTCTGGGAGTAGT	0.582			NA	T	BRD3|BRD4	lethal midline carcinoma								19	35					1.67942e-08	3.48342e-08	0.006122	1	0
BUB1B	701	broad.mit.edu	37	15	40504704	40504704	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:40504704C>G	uc001zkx.3	+	19	2602	c.2390C>G	c.(2389-2391)TCT>TGT	p.S797C		NM_001211	NP_001202	O60566	BUB1B_HUMAN	budding uninhibited by benzimidazoles 1 beta	797	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|kidney(1)	4		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TTACAGGTATCTTCTCAACCT	0.224			NA	Mis|N|F|S			rhabdomyosarcoma			Mosaic_Variegated_Aneuploidy_Syndrome				6	32					0	0	0.001984	0	0
RPUSD2	27079	broad.mit.edu	37	15	40861844	40861844	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:40861844G>A	uc001zmd.1	+	1	308	c.308G>A	c.(307-309)CGG>CAG	p.R103Q		NM_152260	NP_689473	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing	103					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			skin(1)	1		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		AAGAAGCGGCGGGGCGCAACC	0.687			NA											4	7					0	0	0.000248	0	0
MGA	23269	broad.mit.edu	37	15	41988856	41988856	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:41988856C>T	uc001zog.1	+	3	1739	c.1648C>T	c.(1648-1650)CAG>TAG	p.Q550*	MGA_uc010ucy.1_Nonsense_Mutation_p.Q550*|MGA_uc010ucz.1_Nonsense_Mutation_p.Q550*	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 2	550						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GAAAGAGCCTCAGTGGAAATA	0.403			NA											11	12					0	0	0.000978	0	0
MGA	23269	broad.mit.edu	37	15	42041410	42041410	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:42041410C>G	uc010ucy.1	+	17	5786	c.5605C>G	c.(5605-5607)CAA>GAA	p.Q1869E	MGA_uc010ucz.1_Missense_Mutation_p.Q1660E|MGA_uc010uda.1_Missense_Mutation_p.Q485E|MGA_uc001zoi.2_Missense_Mutation_p.Q83E	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	1830						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TCCTGTAATTCAAGCTGTTGG	0.488			NA											9	67					0	0	0.004482	0	0
UNC13C	440279	broad.mit.edu	37	15	54307337	54307337	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:54307337C>A	uc002ack.2	+	1	2237	c.2237C>A	c.(2236-2238)TCT>TAT	p.S746Y		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	746					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGAGCTAATTCTAATGAGCTA	0.423			NA											10	9					7.48243e-07	1.50727e-06	0.000443	1	0
RFX7	64864	broad.mit.edu	37	15	56387666	56387666	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:56387666G>A	uc010bfn.2	-	9	2260	c.2260C>T	c.(2260-2262)CCA>TCA	p.P754S	RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Missense_Mutation_p.P568S	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	regulatory factor X domain containing 2	657					regulation of transcription, DNA-dependent	nucleus	DNA binding				0						TTTATATCTGGAGATGATGAT	0.393			NA											28	30					0	0	0.001061	0	0
C15orf44	81556	broad.mit.edu	37	15	65871944	65871944	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:65871944C>T	uc002apd.2	-	12	1695	c.1359G>A	c.(1357-1359)CTG>CTA	p.L453L	C15orf44_uc010uix.1_Silent_p.L489L|C15orf44_uc010uiz.1_Silent_p.L417L|C15orf44_uc010uja.1_Silent_p.L403L|C15orf44_uc010ujb.1_Silent_p.L374L|C15orf44_uc002ape.3_Silent_p.L453L|C15orf44_uc010uiy.1_Silent_p.L374L	NM_030800	NP_110427	Q96SY0	CO044_HUMAN	hypothetical protein LOC81556 isoform 2	453										ovary(1)	1						CCACCCCTTTCAGCAGGTCCA	0.537			NA											4	31					0	0	0.000248	0	0
THSD4	79875	broad.mit.edu	37	15	72030138	72030138	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:72030138G>C	uc002atb.1	+	10	1777	c.1698G>C	c.(1696-1698)AGG>AGC	p.R566S	THSD4_uc010ukg.1_Missense_Mutation_p.R206S|THSD4_uc002ate.2_Missense_Mutation_p.R206S	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	566						proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						AGAAAGGGAGGAACGAGGAGA	0.567			NA											17	22					0	0	0.004007	0	0
ZNF592	9640	broad.mit.edu	37	15	85326329	85326329	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:85326329C>A	uc002bld.2	+	4	759	c.423C>A	c.(421-423)TTC>TTA	p.F141L	ZNF592_uc010upb.1_RNA	NM_014630	NP_055445	Q92610	ZN592_HUMAN	zinc finger protein 592	141					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(2)	6			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCAACCAGTTCAGTCCAATCT	0.483			NA											16	150					4.7546e-09	1.00104e-08	0.004007	1	0
ZNF592	9640	broad.mit.edu	37	15	85327622	85327622	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:85327622C>T	uc002bld.2	+	4	2052	c.1716C>T	c.(1714-1716)CTC>CTT	p.L572L	ZNF592_uc010upb.1_RNA	NM_014630	NP_055445	Q92610	ZN592_HUMAN	zinc finger protein 592	572					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(2)	6			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CGCCAAATCTCAGCCCGCCTG	0.597			NA											13	118					0	0	0.00245	0	0
NARFL	64428	broad.mit.edu	37	16	783371	783371	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr16:783371C>G	uc002cjr.2	-	7	762	c.750G>C	c.(748-750)AAG>AAC	p.K250N	NARFL_uc002cjp.2_Missense_Mutation_p.K148N|NARFL_uc002cjq.2_Missense_Mutation_p.K148N|NARFL_uc002cjs.2_Missense_Mutation_p.K32N|NARFL_uc010uuq.1_5'Flank	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	250					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding				0		Hepatocellular(780;0.0218)				AGGCTTCCAGCTTTTTGTCAT	0.547			NA											17	65					0	0	0.006122	0	0
PTX4	390667	broad.mit.edu	37	16	1537824	1537824	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr16:1537824C>A	uc010uvf.1	-	2	274	c.274G>T	c.(274-276)GTG>TTG	p.V92L		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	neuronal pentraxin II-like	97						extracellular region	metal ion binding				0						TCCCCCTGCACCGAGGCCTGT	0.662			NA											39	102					8.69298e-16	2.05284e-15	0.001485	1	0
ZNF263	10127	broad.mit.edu	37	16	3339518	3339518	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr16:3339518C>G	uc002cuq.2	+	6	1344	c.1012C>G	c.(1012-1014)CAT>GAT	p.H338D	ZNF263_uc010uww.1_5'UTR|ZNF263_uc002cur.2_5'UTR	NM_005741	NP_005732	O14978	ZN263_HUMAN	zinc finger protein 263	338					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(3)|ovary(1)	4						GGGAAGACCTCATGACCGGTC	0.632			NA											3	86					0	0	0.004672	0	0
GRIN2A	2903	broad.mit.edu	37	16	10274192	10274192	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr16:10274192G>A	uc002czo.3	-	2	625	c.77C>T	c.(76-78)GCG>GTG	p.A26V	GRIN2A_uc010uym.1_Missense_Mutation_p.A26V|GRIN2A_uc002czr.3_Missense_Mutation_p.A26V|GRIN2A_uc010buk.2_Missense_Mutation_p.A26V	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	26	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTTCTCCGCCGCCGCGCTCGG	0.672			NA											29	27					0	0	0.005443	0	0
EMP2	2013	broad.mit.edu	37	16	10626919	10626919	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr16:10626919T>A	uc002czx.2	-	5	541	c.347A>T	c.(346-348)TAT>TTT	p.Y116F		NM_001424	NP_001415	P54851	EMP2_HUMAN	epithelial membrane protein 2	116					cell proliferation	integral to membrane					0						CCTGTCTGTATAAATGGAGGC	0.512	GBM(158;2021 2691 14714 39478)		NA											25	59					0	0	0.001061	0	0
ZNF646	9726	broad.mit.edu	37	16	31087858	31087858	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr16:31087858G>C	uc002eap.2	+	2	502	c.213G>C	c.(211-213)GAG>GAC	p.E71D	ZNF668_uc002eao.2_5'Flank	NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						GGACCCACGAGACTGGCCTTT	0.627			NA											3	65					0	0	0.004672	0	0
DNAJA2	10294	broad.mit.edu	37	16	47005275	47005275	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr16:47005275C>G	uc002eeo.2	-	3	490	c.348G>C	c.(346-348)ATG>ATC	p.M116I	DNAJA2_uc002eep.2_Missense_Mutation_p.M33I	NM_005880	NP_005871	O60884	DNJA2_HUMAN	DnaJ subfamily A member 2	116					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			lung(1)	1		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				GTGGATGCATCATGTCCTCTC	0.378			NA											7	64					0	0	0.001984	0	0
NOD2	64127	broad.mit.edu	37	16	50745221	50745221	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr16:50745221G>A	uc002egm.1	+	4	1504	c.1399G>A	c.(1399-1401)GAC>AAC	p.D467N	NOD2_uc010cbk.1_Missense_Mutation_p.D440N|NOD2_uc002egl.1_Missense_Mutation_p.D245N|NOD2_uc010cbl.1_Missense_Mutation_p.D245N|NOD2_uc010cbm.1_Missense_Mutation_p.D245N|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	467	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)|skin(1)	4		all_cancers(37;0.0156)				CGGGGTGGCGGACCGCCTCAT	0.592			NA											5	86					0	0	0.000602	0	0
CDH8	1006	broad.mit.edu	37	16	61823353	61823353	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr16:61823353C>T	uc002eog.1	-	8	1563	c.1311G>A	c.(1309-1311)AGG>AGA	p.R437R	CDH8_uc002eoh.2_Silent_p.R206R	NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	437	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGTTGAACTGCCTCTCCAGGT	0.418			NA											23	24					0	0	0.001882	0	0
ACD	65057	broad.mit.edu	37	16	67691688	67691688	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr16:67691688G>A	uc002etq.3	-	11	1870	c.1533C>T	c.(1531-1533)CTC>CTT	p.L511L	ACD_uc002etp.3_Silent_p.L508L|ACD_uc002etr.3_Silent_p.L495L	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog isoform 1	511					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			pancreas(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCCGAGCACAGAGGGACGTGC	0.572			NA											5	50					0	0	0.001984	0	0
TRPV3	162514	broad.mit.edu	37	17	3446879	3446879	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:3446879G>T	uc002fvt.1	-	5	677	c.355C>A	c.(355-357)CTG>ATG	p.L119M	TRPV3_uc010vrh.1_Missense_Mutation_p.L103M|TRPV3_uc010vri.1_Missense_Mutation_p.L74M|TRPV3_uc010vrj.1_Missense_Mutation_p.L103M|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.L103M|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.L119M|TRPV3_uc002fvu.2_Missense_Mutation_p.L119M	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel,	119	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)	CGCTTCTTCAGCCGCCTCTTT	0.547			NA											44	67					3.05275e-18	7.46108e-18	0.003214	1	0
GSG2	83903	broad.mit.edu	37	17	3629172	3629172	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:3629172G>A	uc002fwp.2	+	1	1976	c.1943G>A	c.(1942-1944)CGA>CAA	p.R648Q	ITGAE_uc002fwo.3_Intron|ITGAE_uc002fwn.3_5'Flank	NM_031965	NP_114171	Q8TF76	HASP_HUMAN	haspin	648	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity				0						TTTGAGCACCGAGACTTACAC	0.527			NA											4	50					0	0	0.000248	0	0
USP6	9098	broad.mit.edu	37	17	5072223	5072223	+	Silent	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:5072223C>G	uc002gau.1	+	35	5620	c.3390C>G	c.(3388-3390)CTC>CTG	p.L1130L	USP6_uc002gav.1_Silent_p.L1130L|USP6_uc010ckz.1_Silent_p.L813L	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	1130					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						GGGATGAGCTCTCCAAGCCCA	0.527			NA	T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								3	122					0	0	0.004672	0	0
TMEM107	84314	broad.mit.edu	37	17	8079142	8079142	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:8079142G>A	uc002gkg.3	-	3	299	c.189C>T	c.(187-189)CTC>CTT	p.L63L	TMEM107_uc002gkh.3_Silent_p.L69L|TMEM107_uc002gki.3_Silent_p.L69L|TMEM107_uc002gkj.3_Intron|TMEM107_uc002gkk.2_Silent_p.L63L	NM_183065	NP_898888	Q6UX40	TM107_HUMAN	transmembrane protein 107 isoform 2	63	Helical; (Potential).					integral to membrane					0						CCACTGCAAAGAGGCCCAGGG	0.597			NA											5	69					0	0	0.001168	0	0
MYH13	8735	broad.mit.edu	37	17	10250001	10250001	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:10250001T>A	uc002gmk.1	-	13	1349	c.1259A>T	c.(1258-1260)CAG>CTG	p.Q420L	MYH13_uc010vvf.1_Missense_Mutation_p.Q95L	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	420	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						CATTACCTGCTGGACATTTTG	0.438			NA											16	17					0	0	0.00499	0	0
DNAH9	1770	broad.mit.edu	37	17	11795148	11795148	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:11795148C>A	uc002gne.2	+	58	11235	c.11167C>A	c.(11167-11169)CTC>ATC	p.L3723I	DNAH9_uc010coo.2_Missense_Mutation_p.L3017I|DNAH9_uc002gnf.2_Missense_Mutation_p.L35I|DNAH9_uc010vvh.1_Missense_Mutation_p.L76I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3723					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGACGAAAGCCTCAGGGAGCG	0.542			NA											64	83					8.4772e-36	2.18655e-35	0.00361	1	0
SLC5A10	125206	broad.mit.edu	37	17	18862054	18862054	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:18862054G>A	uc002guu.1	+	2	212	c.171G>A	c.(169-171)ATG>ATA	p.M57I	SLC5A10_uc002gur.1_Missense_Mutation_p.M1I|SLC5A10_uc002gut.1_Missense_Mutation_p.M57I|SLC5A10_uc002guv.1_Missense_Mutation_p.M57I|SLC5A10_uc010vyl.1_Missense_Mutation_p.M57I	NM_001042450	NP_001035915	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/glucose	57	Cytoplasmic (Potential).				sodium ion transport|transmembrane transport	integral to membrane	transporter activity			ovary(1)	1						GCCGGGACATGACGTGGTGGC	0.517			NA											23	43					0	0	0.001271	0	0
UNC45B	146862	broad.mit.edu	37	17	33475347	33475347	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:33475347A>G	uc002hja.2	+	2	162	c.65A>G	c.(64-66)TAC>TGC	p.Y22C	UNC45B_uc002hjb.2_Missense_Mutation_p.Y22C|UNC45B_uc002hjc.2_Missense_Mutation_p.Y22C|UNC45B_uc010cto.2_Missense_Mutation_p.Y22C	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	22	TPR 1.				cell differentiation|muscle organ development	cytosol	binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)				CTCCAGGACTACAAGGCCGCC	0.597			NA											19	78					0	0	0.000958	0	0
GSDMB	55876	broad.mit.edu	37	17	38068750	38068750	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:38068750C>T	uc010cwj.2	-	2	241	c.236G>A	c.(235-237)GGT>GAT	p.G79D	GSDMB_uc010cwk.2_RNA|GSDMB_uc010cwl.2_RNA|GSDMB_uc010cwm.2_RNA|GSDMB_uc002htg.2_Missense_Mutation_p.G79D|GSDMB_uc002hth.2_Missense_Mutation_p.G79D|GSDMB_uc010wem.1_Missense_Mutation_p.G79D	NM_001042471	NP_001035936	Q8TAX9	GSDMB_HUMAN	gasdermin B isoform 1	79						cytoplasm				breast(1)|pancreas(1)	2						AGCCTTTTGACCTGGAAAGAG	0.483			NA											24	22					0	0	0.004656	0	0
KRT23	25984	broad.mit.edu	37	17	39092802	39092802	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:39092802G>A	uc002hvm.1	-	2	643	c.54C>T	c.(52-54)GCC>GCT	p.A18A	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Silent_p.A18A|KRT23_uc002hvn.1_Silent_p.A18A	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	keratin 23	18	Head.					intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)				AGCCACCTCCGGCGCCATGGA	0.692			NA											15	47					0	0	0.00245	0	0
KRT13	3860	broad.mit.edu	37	17	39661387	39661387	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:39661387C>T	uc002hwu.1	-	1	479	c.416G>A	c.(415-417)TGG>TAG	p.W139*	KRT13_uc002hwv.1_Nonsense_Mutation_p.W139*|KRT13_uc002hww.2_Nonsense_Mutation_p.W32*|KRT13_uc010wfr.1_Nonsense_Mutation_p.W32*|KRT13_uc010cxo.2_Nonsense_Mutation_p.W139*|KRT13_uc002hwx.1_Nonsense_Mutation_p.W127*	NM_153490	NP_705694	P13646	K1C13_HUMAN	keratin 13 isoform a	139	Coil 1A.|Rod.				epidermis development	intermediate filament	structural molecule activity			ovary(2)|skin(2)|pancreas(1)	5		Breast(137;0.000286)				CTTCAGGTGCCAGTCACGGAT	0.607			NA											41	14					0	0	0.001706	0	0
KRT14	3861	broad.mit.edu	37	17	39742866	39742866	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:39742866C>A	uc002hxf.1	-	1	282	c.221G>T	c.(220-222)AGC>ATC	p.S74I	JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Missense_Mutation_p.S74I	NM_000526	NP_000517	P02533	K1C14_HUMAN	keratin 14	74	Head.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.000307)				GCTGCTGCTGCTGAAGCCACC	0.413			NA											10	4					0.000442599	0.000852278	0.000443	1	0
GFAP	2670	broad.mit.edu	37	17	42992602	42992602	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:42992602C>G	uc002ihq.2	-	1	313	c.253G>C	c.(253-255)GAG>CAG	p.E85Q	GFAP_uc002ihr.2_Missense_Mutation_p.E85Q|GFAP_uc010wjg.1_RNA	NM_002055	NP_002046	P14136	GFAP_HUMAN	glial fibrillary acidic protein isoform 1	85	Rod.|Coil 1A.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			ovary(1)|pancreas(1)	2		Prostate(33;0.0959)				CGAACCTTCTCGATGTAGCTG	0.602			NA											24	16					0	0	0.00333	0	0
SLC16A6	9120	broad.mit.edu	37	17	66270079	66270079	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:66270079C>A	uc002jgz.1	-	3	553	c.365G>T	c.(364-366)GGC>GTC	p.G122V	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Missense_Mutation_p.G122V	NM_004694	NP_004685	O15403	MOT7_HUMAN	solute carrier family 16, member 6	122	Helical; (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity				0	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	AGAGATGATGCCGATGGCGAC	0.493			NA											18	28					3.99206e-14	9.27059e-14	0.000958	1	0
CCDC57	284001	broad.mit.edu	37	17	80159691	80159691	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:80159691C>T	uc002kdz.1	-	3	485	c.130G>A	c.(130-132)GAG>AAG	p.E44K	CCDC57_uc002kdx.1_Missense_Mutation_p.E44K	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	44	Potential.									ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TGCGCCTCCTCCAGCTGGCTC	0.657			NA											21	40					0	0	0.001882	0	0
ROCK1	6093	broad.mit.edu	37	18	18600168	18600168	+	Silent	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr18:18600168C>A	uc002kte.2	-	12	2246	c.1305G>T	c.(1303-1305)CTG>CTT	p.L435L		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	435	Interaction with FHOD1.|Potential.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					GCTGTTCTTCCAGCTTATAGA	0.269			NA											8	13					0.000157383	0.000307293	0.00308	1	0
SNRPD1	6632	broad.mit.edu	37	18	19209061	19209061	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr18:19209061C>T	uc002ktj.1	+	4	453	c.322C>T	c.(322-324)CGT>TGT	p.R108C		NM_006938	NP_008869	P62314	SMD1_HUMAN	small nuclear ribonucleoprotein D1 polypeptide	108	Arg/Lys-rich (basic).				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding|RNA binding				0						aggaagaggacgtggccgtgg	0.264			NA											11	57					0	0	0.000673	0	0
WDR7	23335	broad.mit.edu	37	18	54629724	54629724	+	Silent	SNP	A	A	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr18:54629724A>T	uc002lgk.1	+	26	4339	c.4128A>T	c.(4126-4128)TCA>TCT	p.S1376S	WDR7_uc002lgl.1_Silent_p.S1343S	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	1376	WD 8.									ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		GCCATGGTTCAGTGGCCCTGT	0.418			NA											15	30					0	0	0.006122	0	0
CDH20	28316	broad.mit.edu	37	18	59195350	59195350	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr18:59195350G>C	uc010dps.1	+	6	1180	c.1168G>C	c.(1168-1170)GAA>CAA	p.E390Q	CDH20_uc002lif.2_Missense_Mutation_p.E384Q	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	390	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				CCCTGTGTTTGAACCTGGCTT	0.493			NA											7	136					0	0	0.001984	0	0
SERPINB3	6317	broad.mit.edu	37	18	61322930	61322930	+	Silent	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr18:61322930G>T	uc002lji.2	-	8	1278	c.1134C>A	c.(1132-1134)ACC>ACA	p.T378T	SERPINB4_uc002ljg.2_Intron|SERPINB3_uc010dqa.2_Silent_p.T326T	NM_006919	NP_008850	P29508	SPB3_HUMAN	serine (or cysteine) proteinase inhibitor, clade	378					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GGATGCTGTTGGTCTTATTTT	0.423			NA											35	66					2.47316e-13	5.7054e-13	0.003271	1	0
SERPINB2	5055	broad.mit.edu	37	18	61569653	61569653	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr18:61569653G>T	uc010xeu.1	+	8	1027	c.694G>T	c.(694-696)GTA>TTA	p.V232L	SERPINB2_uc002ljo.2_Missense_Mutation_p.V232L|SERPINB2_uc010dqh.2_Missense_Mutation_p.V162L|SERPINB2_uc002ljp.1_Missense_Mutation_p.V37L|SERPINB2_uc002ljq.1_Missense_Mutation_p.V37L	NM_001143818	NP_001137290	P05120	PAI2_HUMAN	serine (or cysteine) proteinase inhibitor, clade	232					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			lung(1)|skin(1)	2		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GCGCACACCTGTACAGATGAT	0.358			NA											15	34					3.35478e-16	8.03078e-16	0.003163	1	0
CDH7	1005	broad.mit.edu	37	18	63547748	63547748	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr18:63547748G>T	uc002ljz.2	+	12	2301	c.1976G>T	c.(1975-1977)GGA>GTA	p.G659V	CDH7_uc002lkb.2_Missense_Mutation_p.G659V	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	659	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				GAGGGCGGGGGAGAGGAGGAC	0.478			NA											12	41					4.36969e-10	9.54504e-10	0.001855	1	0
SOCS6	9306	broad.mit.edu	37	18	67992759	67992759	+	Silent	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr18:67992759G>C	uc002lkr.1	+	2	1171	c.855G>C	c.(853-855)GTG>GTC	p.V285V	SOCS6_uc010dqq.2_Silent_p.V285V	NM_004232	NP_004223	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	285					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				large_intestine(1)|lung(1)	2		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				ATCAGTCCGTGAATGGCTTGT	0.577	Melanoma(84;1024 1361 24382 36583 42651)		NA											3	138					0	0	0.004672	0	0
DOT1L	84444	broad.mit.edu	37	19	2216400	2216400	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:2216400G>T	uc002lvb.3	+	20	2080	c.2044G>T	c.(2044-2046)GAG>TAG	p.E682*	DOT1L_uc002lvc.1_5'UTR|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_5'UTR	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	682						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGGCCGCGAGCTGGAGCC	0.677			NA											19	11					4.30721e-22	1.07526e-21	0.001523	1	0
GNA15	2769	broad.mit.edu	37	19	3163000	3163000	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:3163000G>A	uc002lxf.2	+	7	1366	c.1108G>A	c.(1108-1110)GAG>AAG	p.E370K		NM_002068	NP_002059	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein),	370					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			skin(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CTACCTGGACGAGATCAACCT	0.662			NA									OREG0025150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	12					0	0	0.004672	0	0
SAFB2	9667	broad.mit.edu	37	19	5604655	5604655	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:5604655C>G	uc002mcd.2	-	11	1710	c.1498G>C	c.(1498-1500)GTG>CTG	p.V500L		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	500	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TCCTTCTTCACTTCGCACTCT	0.408	Ovarian(127;888 1728 23957 44128 52668)		NA											4	28					0	0	0.000248	0	0
LONP1	9361	broad.mit.edu	37	19	5700844	5700844	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:5700844C>G	uc002mcx.2	-	9	1495	c.1462G>C	c.(1462-1464)GAG>CAG	p.E488Q	LONP1_uc002mcy.2_Missense_Mutation_p.E424Q|LONP1_uc010duh.2_Missense_Mutation_p.E229Q|LONP1_uc010dui.2_Missense_Mutation_p.E472Q|LONP1_uc002mcz.2_Missense_Mutation_p.E292Q	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	488					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0						TGGTCTTCCTCCAGCACTGCC	0.612			NA											4	31					0	0	0.000602	0	0
MUC16	94025	broad.mit.edu	37	19	9057032	9057032	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:9057032G>A	uc002mkp.2	-	3	30618	c.30414C>T	c.(30412-30414)TCC>TCT	p.S10138S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10140	Ser-rich.|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						TTTCAGCCATGGAAGAGGGAG	0.458			NA											15	10					0	0	0.003163	0	0
QTRT1	81890	broad.mit.edu	37	19	10822872	10822872	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:10822872G>T	uc002mpr.2	+	6	707	c.682G>T	c.(682-684)GGG>TGG	p.G228W	DNM2_uc010dxk.2_5'Flank	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	228					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			skin(1)	1			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CTTCGCCATCGGGGGCCTGAG	0.617			NA											35	14					9.80977e-26	2.46656e-25	0.004289	1	0
C19orf2	8725	broad.mit.edu	37	19	30505953	30505953	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:30505953G>T	uc002nsr.2	+	11	1615	c.1585G>T	c.(1585-1587)GCC>TCC	p.A529S	C19orf2_uc002nsq.2_Intron|C19orf2_uc002nss.2_Missense_Mutation_p.A489S|C19orf2_uc002nst.2_Missense_Mutation_p.A453S	NM_003796	NP_003787	O94763	RMP_HUMAN	RPB5-mediating protein isoform a	529					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)|kidney(1)	2	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)		GTTTAAAGCTGCCAGATTGCA	0.408	Melanoma(75;661 1306 1472 28422 37948)		NA											14	36					4.3838e-07	8.93375e-07	0.001855	1	0
C19orf40	91442	broad.mit.edu	37	19	33465037	33465037	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:33465037G>C	uc002nud.3	+	4	433	c.315G>C	c.(313-315)CAG>CAC	p.Q105H	CCDC123_uc002nty.2_5'Flank|CCDC123_uc010edg.2_5'Flank|CCDC123_uc002ntz.1_5'Flank|CCDC123_uc002nua.2_5'Flank|CCDC123_uc002nuc.1_5'Flank	NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN	Fanconi anemia-associated protein, 24 kDa	105					DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding				0	Esophageal squamous(110;0.137)					CAGCCCTACAGAAGTTTACTG	0.453			NA						Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks					3	39					0	0	0.004672	0	0
EIF3K	27335	broad.mit.edu	37	19	39116723	39116723	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:39116723G>T	uc002oiz.1	+	4	522	c.335G>T	c.(334-336)TGC>TTC	p.C112F	EIF3K_uc010xuh.1_Missense_Mutation_p.C112F|EIF3K_uc010xui.1_Missense_Mutation_p.C25F	NM_013234	NP_037366	Q9UBQ5	EIF3K_HUMAN	eukaryotic translation initiation factor 3,	112					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTGGAGACCTGCCATTTCCAG	0.567			NA											45	52					1.00776e-21	2.50684e-21	0.00361	1	0
AKT2	208	broad.mit.edu	37	19	40761077	40761077	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:40761077G>A	uc002onf.2	-	4	537	c.275C>T	c.(274-276)TCT>TTT	p.S92F	AKT2_uc010egs.2_Missense_Mutation_p.S92F|AKT2_uc010egt.2_Missense_Mutation_p.S30F|AKT2_uc010xvj.1_Missense_Mutation_p.S30F|AKT2_uc010egu.1_Missense_Mutation_p.S30F|AKT2_uc010xvk.1_Missense_Mutation_p.S92F	NM_001626	NP_001617	P31751	AKT2_HUMAN	AKT2 kinase	92	PH.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)	2			Lung(22;0.000499)			CTCGTCTGGAGAATCCACGTG	0.577			NA	A		ovarian|pancreatic 								11	81					0	0	0.000673	0	0
CEACAM7	1087	broad.mit.edu	37	19	42190823	42190823	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:42190823T>G	uc002ori.1	-	2	396	c.394A>C	c.(394-396)AAT>CAT	p.N132H	CEACAM7_uc010ehx.2_Missense_Mutation_p.N132H|CEACAM7_uc010ehy.1_Missense_Mutation_p.N132H	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion	132	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane				ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		ACTTCTTCATTCACAAGATTT	0.453			NA											49	59					0	0	0.00361	0	0
NKG7	4818	broad.mit.edu	37	19	51875207	51875207	+	Silent	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:51875207G>T	uc002pwj.2	-	3	597	c.426C>A	c.(424-426)CTC>CTA	p.L142L	CLDND2_uc002pwi.1_5'Flank|NKG7_uc002pwk.2_Silent_p.L107L	NM_005601	NP_005592	Q16617	NKG7_HUMAN	natural killer cell group 7 sequence	142	Helical; (Potential).					integral to plasma membrane				central_nervous_system(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TACAGAGCAAGAGGATAGCTG	0.612			NA											5	64					4.096e-09	8.64986e-09	0.001168	1	0
ZNF578	147660	broad.mit.edu	37	19	53013909	53013909	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:53013909G>C	uc002pzp.3	+	6	519	c.275G>C	c.(274-276)AGA>ACA	p.R92T		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	191	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATGTTGCAAAGACATGAAAGT	0.373			NA											6	83					0	0	0.001168	0	0
LENG9	94059	broad.mit.edu	37	19	54973285	54973285	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:54973285C>G	uc010yez.1	-	1	1610	c.1491G>C	c.(1489-1491)GAG>GAC	p.E497D		NM_198988	NP_945339	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	497					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CCAGGCGGATCTCAGCCAGGG	0.607			NA											8	51					0	0	0.004482	0	0
LILRA2	11027	broad.mit.edu	37	19	55086414	55086414	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:55086414G>C	uc002qgg.3	+	4	658	c.569G>C	c.(568-570)AGG>ACG	p.R190T	LILRA2_uc010ern.2_Missense_Mutation_p.R190T|LILRA2_uc002qgf.2_Missense_Mutation_p.R190T|LILRA2_uc010yfe.1_Missense_Mutation_p.R190T|LILRA2_uc010yff.1_Missense_Mutation_p.R178T|LILRA2_uc010ero.2_Missense_Mutation_p.R178T|LILRA2_uc010yfg.1_Missense_Mutation_p.R190T	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	190	Extracellular (Potential).|Ig-like C2-type 2.				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		CCGAGTCGCAGGTGGTCGTAC	0.577			NA											54	39					0	0	0.00361	0	0
ZNF512	84450	broad.mit.edu	37	2	27822465	27822465	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:27822465C>T	uc002rla.2	+	4	380	c.293C>T	c.(292-294)TCA>TTA	p.S98L	ZNF512_uc010ylv.1_Missense_Mutation_p.S19L|ZNF512_uc010ylw.1_Missense_Mutation_p.S97L|ZNF512_uc002rlb.2_Missense_Mutation_p.S19L|ZNF512_uc010ylx.1_Missense_Mutation_p.S19L|ZNF512_uc002rlc.2_Missense_Mutation_p.S19L|ZNF512_uc010yly.1_RNA|ZNF512_uc010ylz.1_Missense_Mutation_p.S19L	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	zinc finger protein 512	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					GGTGGAGTATCAGCCAAGGGG	0.403			NA											18	37					0	0	0.002299	0	0
PLB1	151056	broad.mit.edu	37	2	28761185	28761185	+	Splice_Site	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:28761185G>C	uc002rmb.1	+	10	556	c.556_splice	c.e10-1	p.N186_splice	PLB1_uc010ezj.1_Missense_Mutation_p.Q196H	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor						lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					TCCTCTCACAGAATGGGCTTG	0.652			NA											8	20					0	0	0.001855	0	0
ALK	238	broad.mit.edu	37	2	29606635	29606635	+	Silent	SNP	A	A	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:29606635A>T	uc002rmy.2	-	5	2152	c.1245T>A	c.(1243-1245)TCT>TCA	p.S415S		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	415	MAM 1.|Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AGTCCACTGCAGACAAGCTGC	0.507			NA	T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				28	23					0	0	0.001512	0	0
SULT6B1	391365	broad.mit.edu	37	2	37395098	37395098	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:37395098C>T	uc002rpu.2	-	7	799	c.778G>A	c.(778-780)GAA>AAA	p.E260K	SULT6B1_uc010yni.1_RNA	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member	298						cytoplasm	sulfotransferase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(82;0.248)				CAATATGATTCATACTTCAAC	0.308			NA											5	45					0	0	0.001168	0	0
OXER1	165140	broad.mit.edu	37	2	42990430	42990430	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:42990430A>G	uc002rss.2	-	1	972	c.890T>C	c.(889-891)CTG>CCG	p.L297P		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	G-protein coupled receptor TG1019	297	Helical; Name=6; (Potential).				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)	1						CACCATGGCCAGCACACGCAT	0.622			NA											8	12					0	0	0.00308	0	0
ABCG8	64241	broad.mit.edu	37	2	44102490	44102490	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:44102490C>A	uc002rtq.2	+	11	1784	c.1694C>A	c.(1693-1695)GCC>GAC	p.A565D	ABCG8_uc010yoa.1_Missense_Mutation_p.A564D	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	565	Cytoplasmic (Potential).|ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			skin(3)|ovary(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTCAGCAATGCCCTCTACAAC	0.612			NA											22	36					4.4004e-07	8.94151e-07	0.00333	1	0
NRXN1	9378	broad.mit.edu	37	2	51255218	51255218	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:51255218C>T	uc010fbq.2	-	2	1671	c.194G>A	c.(193-195)GGC>GAC	p.G65D	NRXN1_uc002rxe.3_Missense_Mutation_p.G65D|NRXN1_uc002rxd.1_Missense_Mutation_p.G65D	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAGCACGAGGCCGCGGGCGCT	0.652			NA											5	9					0	0	0.000602	0	0
UGP2	7360	broad.mit.edu	37	2	64112839	64112839	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:64112839A>G	uc002scm.2	+	6	998	c.692A>G	c.(691-693)TAC>TGC	p.Y231C	UGP2_uc002scl.2_Missense_Mutation_p.Y220C|UGP2_uc010ypx.1_Missense_Mutation_p.Y240C	NM_006759	NP_006750	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2 isoform a	231					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity				0						GCCAGTTTCTACAACTCTGGA	0.398			NA											47	55					0	0	0.00361	0	0
FIGLA	344018	broad.mit.edu	37	2	71012708	71012708	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:71012708T>A	uc002she.1	-	3	453	c.448A>T	c.(448-450)AGA>TGA	p.R150*		NM_001004311	NP_001004311	Q6QHK4	FIGLA_HUMAN	factor in the germline alpha	150					multicellular organismal development|oocyte development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcription factor complex	DNA binding|transcription factor binding				0						GACAGCTGTCTTGCCGAGGAT	0.453			NA											130	234					0	0	0.00361	0	0
CYP26B1	56603	broad.mit.edu	37	2	72360362	72360363	+	Missense_Mutation	DNP	CA	CA	AG			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:72360362_72360363CA>AG	uc002sih.1	-	5	935_936	c.935_936TG>CT	c.(934-936)CTG>CCT	p.L312P	CYP26B1_uc010yra.1_Missense_Mutation_p.L295P|CYP26B1_uc010yrb.1_Missense_Mutation_p.L237P	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily b,	312					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			skin(2)	2						GGTGCTTCAGCAGCTGCATGAT	0.653			NA											9	16					0	0	0.004672	0	0
SMYD5	10322	broad.mit.edu	37	2	73451084	73451084	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:73451084A>G	uc002siw.2	+	10	922	c.893A>G	c.(892-894)GAG>GGG	p.E298G	SMYD5_uc010yre.1_Missense_Mutation_p.E182G|SMYD5_uc002six.1_RNA	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	298	SET.						metal ion binding				0						GCAACTGGAGAGTTTCTTAAC	0.493			NA											65	88					0	0	0.00361	0	0
REG1A	5967	broad.mit.edu	37	2	79349128	79349128	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:79349128C>A	uc002snz.2	+	4	301	c.198C>A	c.(196-198)AAC>AAA	p.N66K	REG1A_uc010ffx.1_3'UTR|REG1A_uc010ysd.1_Missense_Mutation_p.N66K	NM_002909	NP_002900	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha precursor	66	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding				0						ATTGCCAGAACATGAATTCGG	0.512			NA											38	60					3.76604e-16	8.9845e-16	0.002522	1	0
ABCB11	8647	broad.mit.edu	37	2	169783672	169783672	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:169783672G>A	uc002ueo.1	-	26	3738	c.3612C>T	c.(3610-3612)CTC>CTT	p.L1204L	ABCB11_uc010zda.1_Silent_p.L622L|ABCB11_uc010zdb.1_Silent_p.L680L	NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	1204	Cytoplasmic (Potential).|ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TCACCTCTGGGAGTGACATGA	0.398			NA											56	86					0	0	0.00361	0	0
NRP2	8828	broad.mit.edu	37	2	206608091	206608091	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:206608091G>C	uc002vaw.2	+	9	2247	c.1456G>C	c.(1456-1458)GAG>CAG	p.E486Q	NRP2_uc002vat.2_Missense_Mutation_p.E486Q|NRP2_uc002vau.2_Missense_Mutation_p.E486Q|NRP2_uc002vav.2_Missense_Mutation_p.E486Q|NRP2_uc002vax.2_Missense_Mutation_p.E486Q|NRP2_uc002vay.2_Missense_Mutation_p.E486Q|NRP2_uc010fud.2_Missense_Mutation_p.E486Q	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	486	Extracellular (Potential).|F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4						GCCCGGTGAGGAGTGGCTTCA	0.617			NA											4	63					0	0	0.001168	0	0
SLC4A3	6508	broad.mit.edu	37	2	220500158	220500158	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:220500158G>T	uc002vmp.3	+	13	2181	c.1912G>T	c.(1912-1914)GAG>TAG	p.E638*	SLC4A3_uc002vmo.3_Nonsense_Mutation_p.E665*|SLC4A3_uc010fwm.2_Nonsense_Mutation_p.E188*|SLC4A3_uc010fwn.1_Nonsense_Mutation_p.E147*	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	638	Cytoplasmic.				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGCGGCGAGAGCGTGAACA	0.632			NA											7	13					8.12818e-05	0.000159596	0.001984	1	0
SLC4A3	6508	broad.mit.edu	37	2	220504391	220504391	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:220504391G>T	uc002vmp.3	+	20	3480	c.3211G>T	c.(3211-3213)GAC>TAC	p.D1071Y	SLC4A3_uc002vmo.3_Missense_Mutation_p.D1098Y|SLC4A3_uc010fwm.2_Missense_Mutation_p.D621Y	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	1071	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGCGCCTGGTGACAAGCCCCA	0.657			NA											17	22					1.33834e-09	2.85213e-09	0.000958	1	0
MFF	56947	broad.mit.edu	37	2	228220473	228220473	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:228220473G>A	uc002vos.2	+	10	1311	c.893G>A	c.(892-894)CGA>CAA	p.R298Q	MFF_uc002vot.2_Missense_Mutation_p.R247Q|MFF_uc002vou.2_Missense_Mutation_p.R220Q|MFF_uc002vov.2_Missense_Mutation_p.R194Q|MFF_uc002vow.2_Missense_Mutation_p.R199Q|MFF_uc002vox.2_Missense_Mutation_p.R174Q|MFF_uc002voy.2_Missense_Mutation_p.R298Q|MFF_uc002voz.2_Missense_Mutation_p.R174Q|MFF_uc002vpa.2_Missense_Mutation_p.R86Q	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	298	Potential.|Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane				large_intestine(1)	1						TCACTAAGACGACAGGTATTT	0.328			NA											6	126					0	0	0.00308	0	0
SPHKAP	80309	broad.mit.edu	37	2	228856021	228856021	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:228856021C>A	uc002vpq.2	-	10	4790	c.4743G>T	c.(4741-4743)AAG>AAT	p.K1581N	SPHKAP_uc002vpp.2_Missense_Mutation_p.K1552N|SPHKAP_uc010zlx.1_Intron	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1581						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTTTAAGAATCTTCTTTTCTT	0.403			NA											24	46					1.77063e-15	4.15326e-15	0.005443	1	0
DIS3L2	129563	broad.mit.edu	37	2	232952246	232952246	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:232952246C>T	uc010fxz.2	+	6	692	c.416C>T	c.(415-417)TCA>TTA	p.S139L	DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vsn.1_Missense_Mutation_p.S139L|DIS3L2_uc002vso.2_RNA	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	139							exonuclease activity|ribonuclease activity|RNA binding			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GCGTATGAATCAGATATCCCC	0.418			NA											4	48					0	0	0.000248	0	0
PLCB1	23236	broad.mit.edu	37	20	8705382	8705382	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr20:8705382C>T	uc002wnb.2	+	16	1664	c.1661C>T	c.(1660-1662)TCA>TTA	p.S554L	PLCB1_uc010zrb.1_Missense_Mutation_p.S453L|PLCB1_uc002wna.2_Missense_Mutation_p.S554L|PLCB1_uc002wnc.1_Missense_Mutation_p.S453L|PLCB1_uc002wnd.1_Missense_Mutation_p.S131L	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	554	PI-PLC Y-box.				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						AAGTTTGAGTCATTTGAAATT	0.373			NA											12	35					0	0	0.000978	0	0
PIGT	51604	broad.mit.edu	37	20	44048215	44048215	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr20:44048215C>T	uc002xoh.1	+	5	739	c.666C>T	c.(664-666)ATC>ATT	p.I222I	PIGT_uc010ghb.1_Silent_p.I212I|PIGT_uc010zwt.1_RNA|PIGT_uc010ghd.1_Silent_p.I129I|PIGT_uc010ghc.1_RNA|PIGT_uc010ghe.1_Silent_p.I185I|PIGT_uc010ghf.1_Silent_p.I175I|PIGT_uc002xoj.1_Silent_p.I222I|PIGT_uc002xok.1_Silent_p.I187I|PIGT_uc010zwu.1_5'UTR|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_5'UTR|PIGT_uc010zww.1_Silent_p.I166I|PIGT_uc010zwx.1_Silent_p.I57I|PIGT_uc010zwy.1_Silent_p.I120I|PIGT_uc010zwz.1_5'UTR|PIGT_uc010zxa.1_Silent_p.I60I|PIGT_uc002xol.1_Silent_p.I78I|PIGT_uc010zxb.1_5'Flank	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	222	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			pancreas(1)	1		Myeloproliferative disorder(115;0.0122)				CAGTGCATATCCGCCCTGTTT	0.547			NA											6	124					0	0	0.001168	0	0
TNNC2	7125	broad.mit.edu	37	20	44452748	44452748	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr20:44452748G>C	uc002xpr.2	-	5	399	c.333C>G	c.(331-333)ATC>ATG	p.I111M		NM_003279	NP_003270	P02585	TNNC2_HUMAN	fast skeletal muscle troponin C	111	EF-hand 3.|3.				muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium ion binding			upper_aerodigestive_tract(1)	1		Myeloproliferative disorder(115;0.0122)				CCTCCGGGTCGATGTAGCCGT	0.642			NA											5	97					0	0	0.000602	0	0
ZMYND8	23613	broad.mit.edu	37	20	45867661	45867661	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr20:45867661G>A	uc002xta.1	-	15	2700	c.2446C>T	c.(2446-2448)CGG>TGG	p.R816W	ZMYND8_uc010ghq.1_Missense_Mutation_p.R493W|ZMYND8_uc010ghr.1_Missense_Mutation_p.R791W|ZMYND8_uc002xst.1_Missense_Mutation_p.R744W|ZMYND8_uc002xsu.1_Intron|ZMYND8_uc002xsv.1_Missense_Mutation_p.R744W|ZMYND8_uc002xsw.1_Missense_Mutation_p.R568W|ZMYND8_uc002xsx.1_Missense_Mutation_p.R568W|ZMYND8_uc002xsy.1_Missense_Mutation_p.R791W|ZMYND8_uc002xsz.1_Missense_Mutation_p.R753W|ZMYND8_uc010zxy.1_Missense_Mutation_p.R843W|ZMYND8_uc002xtb.1_Missense_Mutation_p.R836W|ZMYND8_uc002xss.2_Missense_Mutation_p.R816W|ZMYND8_uc010zxz.1_Intron|ZMYND8_uc002xtc.1_Missense_Mutation_p.R836W|ZMYND8_uc002xtd.1_Missense_Mutation_p.R811W|ZMYND8_uc002xte.1_Missense_Mutation_p.R816W|ZMYND8_uc010zya.1_Missense_Mutation_p.R816W|ZMYND8_uc002xtf.1_Missense_Mutation_p.R836W|ZMYND8_uc002xtg.2_Missense_Mutation_p.R810W|ZMYND8_uc010ghs.1_Missense_Mutation_p.R810W|ZMYND8_uc002xsr.1_5'UTR	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	816							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CACACGACCCGCTGCACGGCC	0.498			NA											51	76					0	0	0.00361	0	0
SULF2	55959	broad.mit.edu	37	20	46386098	46386098	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr20:46386098G>A	uc002xto.2	-	2	340	c.10C>T	c.(10-12)CCG>TCG	p.P4S	SULF2_uc002xtr.2_Missense_Mutation_p.P4S|SULF2_uc002xtq.2_Missense_Mutation_p.P4S|SULF2_uc010ghv.1_Missense_Mutation_p.P4S	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor	4					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						ACGAGGCTCGGGGGGCCCATC	0.562			NA											4	3					0	0	0.000602	0	0
GMEB2	26205	broad.mit.edu	37	20	62223949	62223949	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr20:62223949C>T	uc002yfp.1	-	7	1245	c.766G>A	c.(766-768)GAG>AAG	p.E256K	GMEB2_uc002yfo.1_Missense_Mutation_p.E178K|GMEB2_uc002yfq.1_Missense_Mutation_p.E256K	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding	256					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding				0	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			TCCACCAGCTCCTGGTGGAAC	0.612			NA											4	46					0	0	0.000248	0	0
HLCS	3141	broad.mit.edu	37	21	38126640	38126640	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr21:38126640C>A	uc010gnb.2	-	11	3289	c.2088G>T	c.(2086-2088)CAG>CAT	p.Q696H	HLCS_uc002yvs.2_Missense_Mutation_p.Q696H	NM_000411	NP_000402	P50747	BPL1_HUMAN	holocarboxylase synthetase	696					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			ovary(2)|breast(1)|kidney(1)|liver(1)	5		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CCTGGTGAACCTGGAGGAAGC	0.597			NA											5	18					5.9392e-07	1.19986e-06	0.001168	1	0
ERG	2078	broad.mit.edu	37	21	39763602	39763602	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr21:39763602C>T	uc010gnw.2	-	10	1166	c.871G>A	c.(871-873)GAA>AAA	p.E291K	ERG_uc002yxa.2_Missense_Mutation_p.E284K|ERG_uc011aek.1_Missense_Mutation_p.E192K|ERG_uc010gnv.2_Missense_Mutation_p.E168K|ERG_uc010gnx.2_Missense_Mutation_p.E267K|ERG_uc011ael.1_Missense_Mutation_p.E291K|ERG_uc002yxb.2_Missense_Mutation_p.E267K	NM_001136155	NP_001129627	P11308	ERG_HUMAN	ets-related isoform 4	291					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828		Prostate(19;3.6e-06)				CGCTGGTCTTCAGTTTTGGGC	0.423	Esophageal Squamous(130;336 1700 3010 3083 40589)		NA											23	57					0	0	0.004656	0	0
SH3BGR	6450	broad.mit.edu	37	21	40824019	40824019	+	Silent	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr21:40824019C>G	uc002yya.2	+	1	240	c.186C>G	c.(184-186)GTC>GTG	p.V62V	SH3BGR_uc002yxz.2_Intron	NM_007341	NP_031367	P55822	SH3BG_HUMAN	SH3-binding domain and glutamic acid-rich	62					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity				0		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		TTCCAACTGTCGAAATGGTTA	0.502			NA											8	159					0	0	0.00308	0	0
FAM3B	54097	broad.mit.edu	37	21	42719025	42719025	+	Silent	SNP	A	A	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr21:42719025A>C	uc002yzb.1	+	6	629	c.483A>C	c.(481-483)ACA>ACC	p.T161T	FAM3B_uc002yza.2_RNA|FAM3B_uc002yzc.1_Silent_p.T113T|FAM3B_uc002yzd.1_Silent_p.T184T	NM_058186	NP_478066	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	161					apoptosis|insulin secretion	extracellular space	cytokine activity				0		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				ACGGAAGCACAAGGTGAGTGG	0.542			NA											23	53					0	0	0.002299	0	0
TRPM2	7226	broad.mit.edu	37	21	45798968	45798968	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr21:45798968A>T	uc002zet.1	+	9	1316	c.1103A>T	c.(1102-1104)AAC>ATC	p.N368I	TRPM2_uc002zeu.1_Missense_Mutation_p.N368I|TRPM2_uc002zew.1_Missense_Mutation_p.N368I|TRPM2_uc010gpt.1_Missense_Mutation_p.N368I|TRPM2_uc002zex.1_Missense_Mutation_p.N154I	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	368	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CAGGTGGCCAACCTGCCTGTC	0.597			NA											26	41					0	0	0.005443	0	0
KLHL22	84861	broad.mit.edu	37	22	20819347	20819347	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr22:20819347C>A	uc002zsl.1	-	4	1019	c.910G>T	c.(910-912)GGG>TGG	p.G304W	KLHL22_uc011ahr.1_Missense_Mutation_p.G161W|KLHL22_uc002zsm.1_Missense_Mutation_p.G304W	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	304	Kelch 1.				cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TGAATGCCCCCGAAGCCCACA	0.637			NA											19	41					8.00594e-06	1.59435e-05	0.000958	1	0
RANGAP1	5905	broad.mit.edu	37	22	41657569	41657569	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr22:41657569G>A	uc003azs.2	-	5	1966	c.496C>T	c.(496-498)CTG>TTG	p.L166L	RANGAP1_uc003azt.2_Silent_p.L166L|RANGAP1_uc003azu.2_Silent_p.L166L|RANGAP1_uc011aoz.1_Intron	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	166					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0						CATTCGGTCAGAGCTGCAGCC	0.612			NA											14	18					0	0	0.001855	0	0
XRCC6	2547	broad.mit.edu	37	22	42057418	42057418	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr22:42057418C>T	uc003bao.1	+	12	1676	c.1606C>T	c.(1606-1608)CCT>TCT	p.P536S	XRCC6_uc003bap.1_Missense_Mutation_p.P495S|XRCC6_uc011apc.1_Missense_Mutation_p.P486S|XRCC6_uc003baq.1_Missense_Mutation_p.P536S|XRCC6_uc003bar.1_Missense_Mutation_p.P536S|XRCC6_uc003bas.1_Missense_Mutation_p.P486S	NM_001469	NP_001460	P12956	XRCC6_HUMAN	ATP-dependent DNA helicase II, 70 kDa subunit	536					DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			skin(2)|ovary(1)|lung(1)|kidney(1)	5						AGATTACAATCCTGAAGGGAA	0.403			NA						Direct_reversal_of_damage|NHEJ					13	95					0	0	0.00245	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50987960	50987960	+	Silent	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr22:50987960C>A	uc003bmi.2	+	1	1499	c.1365C>A	c.(1363-1365)ACC>ACA	p.T455T		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	455	Kelch 4.									central_nervous_system(1)	1		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCTACGTCACCGGGGGTCACC	0.677			NA											32	48					7.11191e-15	1.66262e-14	0.002836	1	0
TATDN2	9797	broad.mit.edu	37	3	10291093	10291093	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:10291093C>T	uc003bvg.2	+	2	790	c.209C>T	c.(208-210)TCC>TTC	p.S70F	TATDN2_uc003bvf.2_Missense_Mutation_p.S70F|TATDN2_uc011atr.1_Missense_Mutation_p.S70F|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA	NM_014760	NP_055575	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	70						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			pancreas(2)	2						CGGAGGTTATCCTGGGGCTCA	0.642			NA											9	117					0	0	0.004482	0	0
TATDN2	9797	broad.mit.edu	37	3	10312076	10312076	+	Missense_Mutation	SNP	G	G	A	rs142076830	byFrequency	TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:10312076G>A	uc003bvg.2	+	4	1791	c.1210G>A	c.(1210-1212)GAT>AAT	p.D404N	TATDN2_uc003bvf.2_Missense_Mutation_p.D404N|TATDN2_uc011atr.1_Missense_Mutation_p.D404N|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA	NM_014760	NP_055575	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	404						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			pancreas(2)	2						CAGCAGCAACGATGCAGCCCA	0.572			NA											7	119					0	0	0.001984	0	0
RFTN1	23180	broad.mit.edu	37	3	16399494	16399494	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:16399494C>T	uc003cay.2	-	7	1373	c.1091G>A	c.(1090-1092)AGC>AAC	p.S364N	RFTN1_uc010hes.2_Missense_Mutation_p.S328N	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	raft-linking protein	364						plasma membrane				ovary(3)|central_nervous_system(1)	4						TATGGTTTTGCTATCTTCTGT	0.473			NA											8	109					0	0	0.000673	0	0
CCR4	1233	broad.mit.edu	37	3	32995849	32995849	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:32995849G>A	uc003cfg.1	+	2	1103	c.935G>A	c.(934-936)CGC>CAC	p.R312H		NM_005508	NP_005499	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	312	Cytoplasmic (Potential).				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				lung(1)	1						GAGAAATTTCGCAAGTACATC	0.478			NA											24	49					0	0	0.00333	0	0
AMT	275	broad.mit.edu	37	3	49458927	49458927	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:49458927G>A	uc003cww.2	-	3	466	c.337C>T	c.(337-339)CAG>TAG	p.Q113*	AMT_uc011bcn.1_Nonsense_Mutation_p.Q65*|AMT_uc003cwx.2_Nonsense_Mutation_p.Q113*|AMT_uc011bco.1_Nonsense_Mutation_p.Q113*|AMT_uc003cwy.2_Nonsense_Mutation_p.Q65*|AMT_uc011bcp.1_Nonsense_Mutation_p.Q16*|AMT_uc011bcq.1_Nonsense_Mutation_p.Q57*	NM_000481	NP_000472	P48728	GCST_HUMAN	aminomethyltransferase isoform 1 precursor	113					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GGGCCCACCTGGTTTGGTCTT	0.493			NA											32	52					0	0	0.003271	0	0
AMIGO3	386724	broad.mit.edu	37	3	49756557	49756557	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:49756557G>A	uc003cxj.2	-	1	682	c.342C>T	c.(340-342)CTC>CTT	p.L114L	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	114	Extracellular (Potential).|LRR 3.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATGATAGATCGAGCAGCCTCA	0.637			NA									OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	131					0	0	0.001368	0	0
DOCK3	1795	broad.mit.edu	37	3	51265438	51265438	+	Silent	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:51265438C>G	uc011bds.1	+	17	1589	c.1566C>G	c.(1564-1566)CTC>CTG	p.L522L		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	522	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AAAAGAAACTCTTTGGCTTTG	0.438			NA											17	29					0	0	0.006122	0	0
DNAH1	25981	broad.mit.edu	37	3	52427015	52427015	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:52427015C>T	uc011bef.1	+	65	10709	c.10448C>T	c.(10447-10449)TCG>TTG	p.S3483L	DNAH1_uc003ddv.2_Missense_Mutation_p.S341L	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3548					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCTTCCTCTCGGGCATCGCC	0.572			NA											14	105					0	0	0.00245	0	0
C3orf17	25871	broad.mit.edu	37	3	112724627	112724627	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:112724627C>A	uc003dzr.2	-	9	1521	c.1460G>T	c.(1459-1461)TGG>TTG	p.W487L	GTPBP8_uc011bhy.1_Intron|C3orf17_uc003dzq.2_Missense_Mutation_p.W112L|C3orf17_uc011bhz.1_Missense_Mutation_p.W112L|C3orf17_uc010hqh.2_Missense_Mutation_p.W112L|C3orf17_uc003dzt.2_Missense_Mutation_p.W390L|C3orf17_uc003dzs.2_Missense_Mutation_p.W351L|C3orf17_uc010hqg.2_Missense_Mutation_p.W312L|C3orf17_uc011bia.1_Missense_Mutation_p.W284L|C3orf17_uc003dzu.2_Missense_Mutation_p.W416L|C3orf17_uc011bib.1_Missense_Mutation_p.W376L|C3orf17_uc011bic.1_Missense_Mutation_p.W320L|C3orf17_uc011bid.1_RNA	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	hypothetical protein LOC25871	487						integral to membrane					0						TGAGAGTCTCCACTTAGCACT	0.443			NA											22	41					2.89027e-11	6.47531e-11	0.002299	1	0
ARGFX	503582	broad.mit.edu	37	3	121305102	121305102	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:121305102T>A	uc003eef.2	+	5	698	c.603T>A	c.(601-603)AGT>AGA	p.S201R		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	201						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(114;0.152)		GTTCTACCAGTGACTTCCAAA	0.463			NA											47	86					0	0	0.00361	0	0
ATP2C1	27032	broad.mit.edu	37	3	130683838	130683838	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:130683838G>C	uc003enl.2	+	14	1293	c.1071G>C	c.(1069-1071)AAG>AAC	p.K357N	ATP2C1_uc011blg.1_Missense_Mutation_p.K391N|ATP2C1_uc011blh.1_Missense_Mutation_p.K352N|ATP2C1_uc011bli.1_Missense_Mutation_p.K391N|ATP2C1_uc003enk.2_Missense_Mutation_p.K341N|ATP2C1_uc003enm.2_Missense_Mutation_p.K357N|ATP2C1_uc003enn.2_Missense_Mutation_p.K341N|ATP2C1_uc003eno.2_Missense_Mutation_p.K357N|ATP2C1_uc003enp.2_Missense_Mutation_p.K357N|ATP2C1_uc003enq.2_Missense_Mutation_p.K357N|ATP2C1_uc003enr.2_Missense_Mutation_p.K357N|ATP2C1_uc003ens.2_Missense_Mutation_p.K357N|ATP2C1_uc003ent.2_Missense_Mutation_p.K357N|ATP2C1_uc003enu.2_Missense_Mutation_p.K35N	NM_014382	NP_055197	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1a	357	Cytoplasmic (By similarity).				actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	CACTGACGAAGAATGAAATGA	0.328	Esophageal Squamous(99;456 1443 27647 34099 42636)		NA							Hailey-Hailey_disease				15	26					0	0	0.001216	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133666133	133666133	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:133666133G>C	uc003eqa.3	-	9	1536	c.1262C>G	c.(1261-1263)TCC>TGC	p.S421C	SLCO2A1_uc003eqb.3_Missense_Mutation_p.S345C|SLCO2A1_uc011blv.1_Missense_Mutation_p.S240C	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family,	421	Extracellular (Potential).				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			central_nervous_system(1)	1						AGTTGGGGTGGAGCATCCCAT	0.488			NA											18	28					0	0	0.00499	0	0
ZIC4	84107	broad.mit.edu	37	3	147113967	147113967	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:147113967C>A	uc003ewd.1	-	3	633	c.360G>T	c.(358-360)ATG>ATT	p.M120I	ZIC4_uc003ewc.1_Missense_Mutation_p.M50I|ZIC4_uc011bno.1_Missense_Mutation_p.M170I	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	120						nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						TGGGCTGGCGCATGTAGCGGA	0.657			NA											15	26					1.49906e-05	2.96839e-05	0.00245	1	0
MLF1	4291	broad.mit.edu	37	3	158310301	158310301	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:158310301C>T	uc003fcb.2	+	2	263	c.126C>T	c.(124-126)CTC>CTT	p.L42L	MLF1_uc003fbz.2_Silent_p.L17L|MLF1_uc003fca.2_Silent_p.L17L|MLF1_uc003fbx.2_Silent_p.L17L|MLF1_uc003fcc.2_Silent_p.L58L|MLF1_uc003fby.2_5'UTR|MLF1_uc010hvx.2_Silent_p.L17L	NM_022443	NP_071888	P58340	MLF1_HUMAN	myeloid leukemia factor 1 isoform 1	42					cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding				0		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			GAGACTTGCTCAGTATCTCTG	0.373			NA	T	NPM1	AML								5	56					0	0	0.000602	0	0
DGKG	1608	broad.mit.edu	37	3	185906046	185906046	+	Silent	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:185906046G>T	uc003fqa.2	-	22	2577	c.2040C>A	c.(2038-2040)ATC>ATA	p.I680I	DGKG_uc003fqb.2_Silent_p.I641I|DGKG_uc003fqc.2_Silent_p.I655I|DGKG_uc011brx.1_Silent_p.I621I	NM_001346	NP_001337	P49619	DGKG_HUMAN	diacylglycerol kinase gamma isoform 1	680					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TGCTTTCCCGGATCACAGCCC	0.488			NA											44	75					4.10826e-27	1.04046e-26	0.00361	1	0
ZNF732	654254	broad.mit.edu	37	4	265812	265812	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr4:265812G>T	uc011buu.1	-	3	845	c.831C>A	c.(829-831)TTC>TTA	p.F277L	ZNF732_uc010ibb.1_Intron	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN	zinc finger protein 732	278	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTTCACATGTGAAGGGTTTCT	0.378			NA											4	12					2.56e-06	5.12734e-06	0.000248	1	0
PSAPL1	768239	broad.mit.edu	37	4	7436310	7436310	+	Silent	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr4:7436310G>T	uc011bwj.1	-	1	391	c.297C>A	c.(295-297)CCC>CCA	p.P99P	SORCS2_uc003gkb.3_Intron|SORCS2_uc011bwi.1_Intron	NM_001085382	NP_001078851	Q6NUJ1	SAPL1_HUMAN	prosaposin-like protein 1	99	Saposin B-type 1.				sphingolipid metabolic process	extracellular region|lysosome					0						ACTCCTGGCTGGGGAGCCACT	0.632			NA											5	19					0.000602214	0.00115328	0.000602	1	0
ZNF518B	85460	broad.mit.edu	37	4	10445616	10445616	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr4:10445616C>A	uc003gmn.2	-	3	2824	c.2337G>T	c.(2335-2337)AGG>AGT	p.R779S		NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	779					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4						AATTAAGAACCCTCAACACAG	0.468			NA											28	29					1.12875e-08	2.36936e-08	0.001061	1	0
GABRA2	2555	broad.mit.edu	37	4	46388188	46388188	+	Silent	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr4:46388188G>T	uc003gxc.3	-	2	763	c.90C>A	c.(88-90)ATC>ATA	p.I30I	GABRA2_uc010igc.2_Silent_p.I30I|GABRA2_uc011bzc.1_5'UTR|GABRA2_uc003gxe.2_Silent_p.I30I|GABRA2_uc010igd.1_Silent_p.I30I	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	30	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CATCTTCTTGGATGTTAGCCA	0.358			NA											10	10					0.000978159	0.00185294	0.000978	1	0
LRRC66	339977	broad.mit.edu	37	4	52860682	52860682	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr4:52860682C>T	uc003gzi.2	-	4	2519	c.2506G>A	c.(2506-2508)GAA>AAA	p.E836K		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	836						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						CAATGCCATTCTGCTGCCTTG	0.473			NA											23	37					0	0	0.00278	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73169681	73169681	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr4:73169681C>G	uc003hgk.1	-	17	2414	c.2377G>C	c.(2377-2379)GAA>CAA	p.E793Q	ADAMTS3_uc003hgl.2_Missense_Mutation_p.E134Q	NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	793	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGAAGACTTTCAATGTCATCT	0.398	NSCLC(168;1941 2048 2918 13048 43078)		NA											58	86					0	0	0.00361	0	0
MEPE	56955	broad.mit.edu	37	4	88766663	88766663	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr4:88766663C>A	uc003hqy.2	+	4	682	c.643C>A	c.(643-645)CGT>AGT	p.R215S	MEPE_uc010ikn.2_Missense_Mutation_p.R102S	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN	matrix, extracellular phosphoglycoprotein with	215					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			ovary(1)|lung(1)|skin(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AAGCACCCATCGTATTCAACA	0.393			NA											18	43					5.3912e-06	1.0767e-05	0.006122	1	0
DNAJB14	79982	broad.mit.edu	37	4	100822301	100822301	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr4:100822301T>A	uc003hvl.2	-	8	1175	c.1024A>T	c.(1024-1026)ATG>TTG	p.M342L	DNAJB14_uc003hvk.2_Missense_Mutation_p.M257L|DNAJB14_uc010ili.2_Missense_Mutation_p.M275L	NM_001031723	NP_001026893	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	342					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		GCATACTGCATATCTGTTTCT	0.383			NA											17	31					0	0	0.00499	0	0
DKK2	27123	broad.mit.edu	37	4	107956578	107956578	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr4:107956578C>A	uc003hyi.2	-	1	876	c.171G>T	c.(169-171)ATG>ATT	p.M57I	DKK2_uc010ilw.1_Intron|DKK2_uc003hyj.1_Missense_Mutation_p.M57I	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	dickkopf homolog 2 precursor	57					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				ovary(3)|lung(1)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GTCCTTGGTACATGCCCGCAG	0.587			NA											21	46					9.95505e-16	2.34296e-15	0.002299	1	0
FAT4	79633	broad.mit.edu	37	4	126238974	126238974	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr4:126238974G>A	uc003ifj.3	+	1	1408	c.1408G>A	c.(1408-1410)GAC>AAC	p.D470N		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	470	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TGACATCAATGACCATCCTCC	0.552			NA									OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	32					0	0	0.000248	0	0
FAT4	79633	broad.mit.edu	37	4	126370200	126370200	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr4:126370200G>C	uc003ifj.3	+	9	8029	c.8029G>C	c.(8029-8031)GAA>CAA	p.E2677Q	FAT4_uc011cgp.1_Missense_Mutation_p.E975Q|FAT4_uc003ifi.1_Missense_Mutation_p.E155Q	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2677	Cadherin 26.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ATTTATATCTGAAATATTGGA	0.323			NA											5	97					0	0	0.001168	0	0
CLGN	1047	broad.mit.edu	37	4	141334183	141334183	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr4:141334183A>G	uc011chi.1	-	3	268	c.50T>C	c.(49-51)ATT>ACT	p.I17T	CLGN_uc003iii.2_Missense_Mutation_p.I17T	NM_001130675	NP_001124147	O14967	CLGN_HUMAN	calmegin precursor	17					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			ovary(2)|skin(1)	3	all_hematologic(180;0.162)					TTCTGCATTAATTGAGATGAA	0.313			NA											24	28					0	0	0.004656	0	0
LRBA	987	broad.mit.edu	37	4	151509335	151509335	+	Silent	SNP	A	A	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr4:151509335A>C	uc010ipj.2	-	41	6702	c.6228T>G	c.(6226-6228)GGT>GGG	p.G2076G	LRBA_uc003ilt.3_Silent_p.G724G|LRBA_uc003ilu.3_Silent_p.G2065G	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2076						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					GGCTAACAGGACCTGCCAAAA	0.433			NA											7	21					0	0	0.003954	0	0
GRIA2	2891	broad.mit.edu	37	4	158282204	158282204	+	Silent	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr4:158282204C>G	uc003ipm.3	+	14	2793	c.2334C>G	c.(2332-2334)GGC>GGG	p.G778G	GRIA2_uc011cit.1_Intron|GRIA2_uc003ipl.3_Intron|GRIA2_uc003ipk.3_Intron|GRIA2_uc010iqh.1_RNA|GRIA2_uc011ciu.1_Silent_p.G88G|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_Intron|GRIA2_uc011ciy.1_Intron|GRIA2_uc011ciz.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	778	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ATGAACAAGGCCTGTTGGACA	0.433			NA											12	22					0	0	0.004007	0	0
SDHA	6389	broad.mit.edu	37	5	251218	251218	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:251218G>T	uc003jao.3	+	12	1778	c.1663G>T	c.(1663-1665)GGA>TGA	p.G555*	SDHA_uc011clv.1_Nonsense_Mutation_p.G555*|SDHA_uc011clw.1_Nonsense_Mutation_p.G507*|SDHA_uc003jap.3_Intron|SDHA_uc003jaq.3_Nonsense_Mutation_p.G330*|SDHA_uc003jar.3_Nonsense_Mutation_p.G149*	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	555			G -> E (in MT-C2D and CMD1GG).		nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GTTCGACCGGGGTGAGCAGAC	0.567			NA							Familial_Paragangliomas				20	37					1.22574e-08	2.55758e-08	0.002299	1	0
CDH10	1008	broad.mit.edu	37	5	24488006	24488006	+	Silent	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:24488006C>A	uc003jgr.1	-	12	2465	c.2133G>T	c.(2131-2133)CGG>CGT	p.R711R	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	711	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		TAATGAAATCCCGGACGTCCG	0.468			NA								HNSCC(23;0.051)			26	33					4.72057e-08	9.70494e-08	0.003954	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33561210	33561210	+	Silent	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:33561210C>A	uc003jia.1	-	20	4210	c.4047G>T	c.(4045-4047)GCG>GCT	p.A1349A	ADAMTS12_uc010iuq.1_Silent_p.A1264A	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1349	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						TCTGGATGGCCGCACAGTCAG	0.572			NA								HNSCC(64;0.19)			31	46					5.45727e-16	1.29749e-15	0.001512	1	0
NUP155	9631	broad.mit.edu	37	5	37303423	37303423	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:37303423C>T	uc003jku.1	-	28	3374	c.3256G>A	c.(3256-3258)GAG>AAG	p.E1086K	NUP155_uc003jkt.1_Missense_Mutation_p.E1027K|NUP155_uc010iuz.1_Missense_Mutation_p.E1022K	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	1086					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGTTCTTCTCGTAATACCGC	0.403			NA											6	36					0	0	0.001984	0	0
GCNT4	51301	broad.mit.edu	37	5	74324704	74324704	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:74324704G>C	uc003kdn.2	-	1	2021	c.1159C>G	c.(1159-1161)CTT>GTT	p.L387V		NM_016591	NP_057675	Q9P109	GCNT4_HUMAN	core 2 beta-1,6-N-acetylglucosaminyltransferase	387	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		ACGCTTCGAAGGTGAGATCCA	0.423			NA											33	36					0	0	0.003755	0	0
IQGAP2	10788	broad.mit.edu	37	5	75997028	75997028	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:75997028C>G	uc003kek.2	+	34	4717	c.4495C>G	c.(4495-4497)CAA>GAA	p.Q1499E	IQGAP2_uc011csv.1_Missense_Mutation_p.Q995E|IQGAP2_uc003kel.2_Missense_Mutation_p.Q995E	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1499					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AGATGATCTTCAAACAAACCA	0.468			NA											3	63					0	0	0.004672	0	0
CDC23	8697	broad.mit.edu	37	5	137548748	137548748	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:137548748C>A	uc003lcl.2	-	2	197	c.166G>T	c.(166-168)GCG>TCG	p.A56S	CDC23_uc003lcm.1_Missense_Mutation_p.A56S	NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	cell division cycle protein 23	56					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCCAACTCCGCCGACCTGGAA	0.572			NA											50	68					4.02871e-13	9.26337e-13	0.00361	1	0
PCDHA2	56146	broad.mit.edu	37	5	140176113	140176113	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:140176113C>T	uc003lhd.2	+	1	1670	c.1564C>T	c.(1564-1566)CCG>TCG	p.P522S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.P522S|PCDHA2_uc011czy.1_Missense_Mutation_p.P522S	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	522	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCTGCAGCCGCTGGACCA	0.687			NA											45	73					0	0	0.00361	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215665	140215665	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:140215665T>A	uc003lhq.2	+	1	1697	c.1697T>A	c.(1696-1698)CTG>CAG	p.L566Q	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_uc011dac.1_Missense_Mutation_p.L566Q	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	566	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGCACTGCTGGCGCCTCGG	0.687	NSCLC(160;258 2013 5070 22440 28951)		NA											44	73					0	0	0.002852	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475158	140475158	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:140475158C>A	uc003lil.2	+	1	922	c.784C>A	c.(784-786)CAG>AAG	p.Q262K	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	262	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTTGGATCCCAGGTTGCCAT	0.483			NA											18	31					5.01169e-05	9.8681e-05	0.00499	1	0
PCDHB4	56131	broad.mit.edu	37	5	140503412	140503412	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:140503412C>A	uc003lip.1	+	1	1832	c.1832C>A	c.(1831-1833)CCT>CAT	p.P611H		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	611	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACGGAGCCTGGGCTGTTC	0.697			NA											51	68					3.94638e-17	9.54504e-17	0.00361	1	0
PCDHB12	56124	broad.mit.edu	37	5	140589218	140589218	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:140589218T>A	uc003liz.2	+	1	928	c.739T>A	c.(739-741)TAT>AAT	p.Y247N	PCDHB12_uc011dak.1_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	247	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGCTTTTTATGAGGTGAA	0.502			NA											9	134					0	0	0.000978	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439754	145439754	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:145439754G>A	uc003lnt.2	+	9	2119	c.1881G>A	c.(1879-1881)GTG>GTA	p.V627V	SH3RF2_uc011dbl.1_Silent_p.V627V|SH3RF2_uc011dbm.1_Silent_p.V112V|SH3RF2_uc003lnu.2_Silent_p.V118V|SH3RF2_uc011dbn.1_Silent_p.V118V|SH3RF2_uc011dbo.1_Silent_p.V84V	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	627							ligase activity|protein phosphatase 1 binding|zinc ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCATCCTGGTGAAACCAGAAA	0.517			NA											11	64					0	0	0.001368	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147051274	147051274	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:147051274G>A	uc003loq.1	-	2	478	c.96C>T	c.(94-96)GAC>GAT	p.D32D	JAKMIP2_uc011dbx.1_Intron|JAKMIP2_uc003lor.1_Silent_p.D32D|JAKMIP2_uc010jgo.1_Silent_p.D32D	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein	32	Potential.					Golgi apparatus				large_intestine(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATCTGAATGTCTGTGAGCT	0.532			NA											14	11					0	0	0.00245	0	0
GABRA1	2554	broad.mit.edu	37	5	161309626	161309626	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:161309626G>T	uc010jiw.2	+	8	1090	c.622G>T	c.(622-624)GTA>TTA	p.V208L	GABRA1_uc010jix.2_Missense_Mutation_p.V208L|GABRA1_uc010jiy.2_Missense_Mutation_p.V208L|GABRA1_uc003lyx.3_Missense_Mutation_p.V208L|GABRA1_uc010jiz.2_Missense_Mutation_p.V208L|GABRA1_uc010jja.2_Missense_Mutation_p.V208L|GABRA1_uc010jjb.2_Missense_Mutation_p.V208L	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	208	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CTCAGTGGTTGTAGCAGAAGA	0.398			NA											7	20					0.00307968	0.00574052	0.00308	1	0
HRH2	3274	broad.mit.edu	37	5	175111128	175111128	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:175111128G>T	uc003mdd.2	+	1	2665	c.892G>T	c.(892-894)GGG>TGG	p.G298W	HRH2_uc003mdc.3_Missense_Mutation_p.G298W	NM_022304	NP_071640	P25021	HRH2_HUMAN	histamine receptor H2 isoform 2	298	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			ovary(1)	1	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CTTCCGCACCGGGTACCAACA	0.567			NA											25	21					1.33986e-20	3.32115e-20	0.004656	1	0
RIPK1	8737	broad.mit.edu	37	6	3105914	3105914	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr6:3105914A>G	uc010jni.2	+	9	1437	c.1205A>G	c.(1204-1206)AAT>AGT	p.N402S	RIPK1_uc003muv.3_Missense_Mutation_p.N239S|RIPK1_uc003muw.3_Missense_Mutation_p.N337S|RIPK1_uc011dhs.1_Missense_Mutation_p.N356S|RIPK1_uc003mux.2_Missense_Mutation_p.N402S	NM_003804	NP_003795	Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine	402	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			large_intestine(3)|lung(1)|skin(1)	5	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CCCAGACAGAATGTGGCTTAC	0.502			NA											20	39					0	0	0.001523	0	0
OR2W1	26692	broad.mit.edu	37	6	29012475	29012475	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr6:29012475A>T	uc003nlw.2	-	1	478	c.478T>A	c.(478-480)TGT>AGT	p.C160S		NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W,	160	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						GTGAGTGTACATAATACTACA	0.393			NA											20	31					0	0	0.000958	0	0
OR10C1	442194	broad.mit.edu	37	6	29408052	29408052	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr6:29408052G>T	uc011dlp.1	+	1	260	c.260G>T	c.(259-261)GGC>GTC	p.G87V	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C,	87	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CTCCTTACTGGCCGGCGCCAC	0.587			NA											32	72					1.22384e-17	2.9807e-17	0.002836	1	0
C6orf136	221545	broad.mit.edu	37	6	30619070	30619070	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr6:30619070G>A	uc003nqw.3	+	4	784	c.591G>A	c.(589-591)CTG>CTA	p.L197L	C6orf136_uc003nqx.3_Silent_p.L378L|C6orf136_uc011dmn.1_Silent_p.L63L	NM_001109938	NP_001103408	Q5SQH8	CF136_HUMAN	hypothetical protein LOC221545 isoform 1	197											0						TTCTTTCACTGACCCTCTGCC	0.507			NA											32	327					0	0	0.003755	0	0
LRFN2	57497	broad.mit.edu	37	6	40359880	40359880	+	Missense_Mutation	SNP	G	G	T	rs144850104	byFrequency	TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr6:40359880G>T	uc003oph.1	-	3	2637	c.2172C>A	c.(2170-2172)TTC>TTA	p.F724L		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	724	Cytoplasmic (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCCCATGTCGAAGGAGTGGC	0.692			NA											8	10					0.000274275	0.000529609	0.004482	1	0
LRFN2	57497	broad.mit.edu	37	6	40360011	40360011	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr6:40360011C>T	uc003oph.1	-	3	2506	c.2041G>A	c.(2041-2043)GGG>AGG	p.G681R		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	681	Cytoplasmic (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCCCTCTCCCGGCTGGAGTC	0.716			NA											7	11					0	0	0.00308	0	0
TREM1	54210	broad.mit.edu	37	6	41243937	41243937	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr6:41243937C>A	uc003oqf.1	-	4	695	c.631G>T	c.(631-633)GCT>TCT	p.A211S	TREM1_uc003oqg.1_Missense_Mutation_p.W146C	NM_018643	NP_061113	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	211	Helical; (Potential).				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	AATCCACCAGCCAGGAGAATG	0.542			NA											16	25					8.60227e-14	1.99106e-13	0.004007	1	0
CUL9	23113	broad.mit.edu	37	6	43155663	43155663	+	Silent	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr6:43155663C>G	uc003ouk.2	+	7	1869	c.1794C>G	c.(1792-1794)TCC>TCG	p.S598S	CUL9_uc003ouj.1_Silent_p.S488S|CUL9_uc003oul.2_Silent_p.S598S|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_Silent_p.S56S	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	598					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						AAGAGGAGTCCAAGTCGGAGG	0.547			NA											14	22					0	0	0.001855	0	0
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	A	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr6:45390466A>G	uc011dvx.1	+	3	405	c.195A>G	c.(193-195)CAA>CAG	p.Q65Q	RUNX2_uc011dvy.1_Silent_p.Q65Q|RUNX2_uc003oxt.2_Silent_p.Q51Q	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	runt-related transcription factor 2 isoform a	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3						agcagcagcaacagcagcagc	0.274			NA											3	41					0	0	0.004672	0	0
FAM135A	57579	broad.mit.edu	37	6	71242879	71242879	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr6:71242879C>T	uc003pfj.2	+	15	3925	c.3792C>T	c.(3790-3792)CTC>CTT	p.L1264L	FAM135A_uc003pfi.2_Silent_p.L1068L|FAM135A_uc003pfh.2_Silent_p.L1051L|FAM135A_uc003pfl.2_Silent_p.L931L|FAM135A_uc003pfn.2_Silent_p.L470L|FAM135A_uc003pfo.1_Silent_p.L635L|FAM135A_uc010kan.1_Silent_p.L43L	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	1264										central_nervous_system(1)	1						GTGCAGATCTCCGATTAGTAA	0.323			NA											3	10					0	0	0.004672	0	0
C6orf165	154313	broad.mit.edu	37	6	88144689	88144689	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr6:88144689G>A	uc003plv.2	+	11	1504	c.1412G>A	c.(1411-1413)AGA>AAA	p.R471K	SLC35A1_uc003plx.2_5'Flank|C6orf165_uc003plw.2_Missense_Mutation_p.R283K|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.R471K	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	471										central_nervous_system(1)	1		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		GACATAGTTAGAGAAAAGGCC	0.274			NA											4	19					0	0	0.000248	0	0
GRM1	2911	broad.mit.edu	37	6	146720753	146720753	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr6:146720753G>T	uc010khw.1	+	8	3048	c.2578G>T	c.(2578-2580)GTT>TTT	p.V860F	GRM1_uc010khv.1_Missense_Mutation_p.V860F|GRM1_uc003qll.2_Missense_Mutation_p.V860F|GRM1_uc011edz.1_Missense_Mutation_p.V860F|GRM1_uc011eea.1_Missense_Mutation_p.V860F	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	860	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCGCATGCATGTTGGCGATGG	0.527			NA											22	13					1.96895e-08	4.07188e-08	0.00278	1	0
THBS2	7058	broad.mit.edu	37	6	169628232	169628232	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr6:169628232C>G	uc003qwt.2	-	16	2652	c.2404G>C	c.(2404-2406)GAC>CAC	p.D802H		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	802	TSP type-3 4.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCATCAATGTCCACGGAGCAG	0.438	Esophageal Squamous(91;219 1934 18562 44706)		NA											3	20					0	0	0.004672	0	0
CARD11	84433	broad.mit.edu	37	7	2976727	2976727	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:2976727C>T	uc003smv.2	-	9	1689	c.1285G>A	c.(1285-1287)GTC>ATC	p.V429I		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	429	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)		TCCAGGTTGACGATGCAGGCC	0.622			NA	Mis		DLBCL								15	13					0	0	0.00245	0	0
RSPH10B2	728194	broad.mit.edu	37	7	6797501	6797501	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:6797501C>T	uc003sqw.1	+	3	464	c.193C>T	c.(193-195)CAG>TAG	p.Q65*	RSPH10B2_uc010ktk.1_Nonsense_Mutation_p.Q65*	NM_173565	NP_775836	B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B	65										ovary(1)|pancreas(1)|skin(1)	3						CCAAAACGTTCAGCAGAACGA	0.493			NA											61	196					0	0	0.00361	0	0
DNAH11	8701	broad.mit.edu	37	7	21744058	21744058	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:21744058A>G	uc003svc.2	+	39	6332	c.6301A>G	c.(6301-6303)ATG>GTG	p.M2101V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2101					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						CTAGGTACTCATGAGAGCATT	0.388			NA							Kartagener_syndrome				9	15					0	0	0.000443	0	0
OSBPL3	26031	broad.mit.edu	37	7	24902839	24902839	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:24902839C>G	uc003sxf.2	-	9	1255	c.850G>C	c.(850-852)GAT>CAT	p.D284H	OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_Intron|OSBPL3_uc003sxg.2_Missense_Mutation_p.D284H|OSBPL3_uc003sxh.2_Intron|OSBPL3_uc003sxi.2_Intron|OSBPL3_uc003sxj.1_Missense_Mutation_p.D49H|OSBPL3_uc003sxk.1_Intron	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	284					lipid transport		lipid binding|protein binding			skin(1)	1						CCTTTAGCATCTTTGCCAATA	0.493			NA											33	40					0	0	0.004289	0	0
CYCS	54205	broad.mit.edu	37	7	25163619	25163619	+	Silent	SNP	C	C	T	rs11548812		TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:25163619C>T	uc003sxl.2	-	2	265	c.120G>A	c.(118-120)AAG>AAA	p.K40K		NM_018947	NP_061820	P99999	CYC_HUMAN	cytochrome c	40					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding			ovary(1)|lung(1)	2					Melatonin(DB01065)|Minocycline(DB01017)	CCTGACCTGTCTTCCGCCCAA	0.443			NA											20	27					0	0	0.00278	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26236976	26236976	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:26236976C>G	uc003sxr.3	-	4	475	c.259G>C	c.(259-261)GAT>CAT	p.D87H	HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.D75H	NM_031243	NP_112533	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	87	RRM 1.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3						ACTCTCCCATCAATTGAATGA	0.448			NA	T	ETV1	prostate								12	127					0	0	0.000978	0	0
AEBP1	165	broad.mit.edu	37	7	44151804	44151804	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:44151804G>A	uc003tkb.2	+	17	2406	c.2101G>A	c.(2101-2103)GAT>AAT	p.D701N	AEBP1_uc003tkc.3_Missense_Mutation_p.D276N|AEBP1_uc003tkd.2_Splice_Site	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	701	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CATCTTTGAAGATTTCCCGGA	0.582			NA											5	51					0	0	0.001984	0	0
ZNF713	349075	broad.mit.edu	37	7	56007380	56007380	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:56007380G>C	uc003trc.1	+	4	1012	c.974G>C	c.(973-975)GGA>GCA	p.G325A	ZNF713_uc003tra.1_Missense_Mutation_p.G338A|MRPS17_uc003trb.2_Intron	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	zinc finger protein 713	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATTCATACTGGAGAAAAGCCC	0.408			NA											4	109					0	0	0.000248	0	0
ZNF716	441234	broad.mit.edu	37	7	57522864	57522864	+	Silent	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:57522864C>A	uc011kdi.1	+	3	364	c.252C>A	c.(250-252)GCC>GCA	p.A84A		NM_001159279	NP_001152751			zinc finger protein 716											ovary(2)	2						AGATGGTAGCCAAACACCCAG	0.443			NA											33	56					1.62565e-12	3.70139e-12	0.002445	1	0
POM121C	100101267	broad.mit.edu	37	7	75051137	75051137	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:75051137C>A	uc003udk.3	-	13	3283	c.2398G>T	c.(2398-2400)GTC>TTC	p.V800F		NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	POM121 membrane glycoprotein (rat)-like	1042	Pore side (Potential).				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding				0						AAGGAGAAGACAGCAGTGGAG	0.657			NA											10	68					5.16669e-11	1.15384e-10	0.000978	1	0
PCLO	27445	broad.mit.edu	37	7	82784235	82784235	+	Silent	SNP	T	T	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:82784235T>G	uc003uhx.2	-	2	2011	c.1722A>C	c.(1720-1722)CCA>CCC	p.P574P	PCLO_uc003uhv.2_Silent_p.P574P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	520	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GTTTTGCAGATGGAGACACTG	0.483			NA											137	231					0	0	0.00361	0	0
NRCAM	4897	broad.mit.edu	37	7	107822364	107822364	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:107822364C>A	uc003vfb.2	-	24	3019	c.2548G>T	c.(2548-2550)GGG>TGG	p.G850W	NRCAM_uc003vfc.2_Missense_Mutation_p.G834W|NRCAM_uc011kmk.1_Missense_Mutation_p.G845W|NRCAM_uc003vfd.2_Missense_Mutation_p.G826W|NRCAM_uc003vfe.2_Missense_Mutation_p.G826W	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	850	Fibronectin type-III 3.|Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5						CGCACGTTCCCAGGAGCCACC	0.458			NA											18	24					5.35267e-07	1.0845e-06	0.000958	1	0
EIF3IP1	442720	broad.mit.edu	37	7	109599766	109599766	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:109599766A>T	uc003vfp.1	-	1	505	c.332T>A	c.(331-333)ATC>AAC	p.I111N		NR_003024				Homo sapiens eukaryotic translation initiation factor 3, subunit I pseudogene 1 (EIF3IP1), non-coding RNA.												0						GCCTGCAATGATGCACTCCCC	0.488			NA											11	31					0	0	0.001855	0	0
GPR37	2861	broad.mit.edu	37	7	124386633	124386633	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:124386633G>C	uc003vli.2	-	2	2439	c.1788C>G	c.(1786-1788)TTC>TTG	p.F596L		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	596	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3						GTATGGTACTGAAAGGCGAGA	0.453			NA											4	95					0	0	0.000602	0	0
GRM8	2918	broad.mit.edu	37	7	126544084	126544084	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:126544084C>A	uc003vlr.2	-	4	1271	c.960G>T	c.(958-960)CAG>CAT	p.Q320H	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.Q320H|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Missense_Mutation_p.Q41H	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	320	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TCTCCTCTTGCTGATAGACAG	0.418			NA								HNSCC(24;0.065)			24	46					1.80694e-10	3.9844e-10	0.001786	1	0
ZC3HAV1	56829	broad.mit.edu	37	7	138768723	138768723	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:138768723G>C	uc003vun.2	-	3	888	c.500C>G	c.(499-501)CCG>CGG	p.P167R	ZC3HAV1_uc003vup.2_Missense_Mutation_p.P167R	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	zinc finger antiviral protein isoform 1	167	C3H1-type 3.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			ovary(1)	1						TCTTGAACACGGTGGCTGCTG	0.507			NA											12	26					0	0	0.001855	0	0
ADCK2	90956	broad.mit.edu	37	7	140373967	140373967	+	Silent	SNP	T	T	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:140373967T>C	uc003vvy.1	+	1	1015	c.837T>C	c.(835-837)CCT>CCC	p.P279P	ADCK2_uc003vvz.2_Silent_p.P279P	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	279	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity				0	Melanoma(164;0.00956)					TGCTCCTCCCTAAAGCTGACC	0.552			NA											3	66					0	0	0.004672	0	0
EPHB6	2051	broad.mit.edu	37	7	142567669	142567669	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:142567669G>A	uc011kst.1	+	17	3344	c.2557G>A	c.(2557-2559)GAA>AAA	p.E853K	EPHB6_uc011ksu.1_Missense_Mutation_p.E853K|EPHB6_uc003wbs.2_Missense_Mutation_p.E561K|EPHB6_uc003wbt.2_Missense_Mutation_p.E327K|EPHB6_uc003wbu.2_Missense_Mutation_p.E561K|EPHB6_uc003wbv.2_Missense_Mutation_p.E237K	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	853	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					ACTCATGTGGGAAGTGATGAG	0.542			NA											4	34					0	0	0.000248	0	0
ZNF212	7988	broad.mit.edu	37	7	148950880	148950880	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:148950880C>G	uc003wfp.2	+	5	958	c.862C>G	c.(862-864)CCG>GCG	p.P288A		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			TGTGGGCTGCCCGAAGCAGAA	0.547			NA											25	36					0	0	0.00333	0	0
RP1L1	94137	broad.mit.edu	37	8	10465978	10465978	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr8:10465978G>T	uc003wtc.2	-	4	5859	c.5630C>A	c.(5629-5631)CCA>CAA	p.P1877Q		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1877					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		TTCTGCCTCTGGGGCCTCTAC	0.622			NA											125	159					7.82854e-59	2.0572e-58	0.00361	1	0
RP1L1	94137	broad.mit.edu	37	8	10466795	10466795	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr8:10466795G>C	uc003wtc.2	-	4	5042	c.4813C>G	c.(4813-4815)CAG>GAG	p.Q1605E		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1605					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		TGTCTGCGCTGCTGGGTCTGC	0.692			NA											9	9					0	0	0.000673	0	0
RP1L1	94137	broad.mit.edu	37	8	10470341	10470341	+	Silent	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr8:10470341G>T	uc003wtc.2	-	4	1496	c.1267C>A	c.(1267-1269)CGG>AGG	p.R423R		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	423					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		CACCTCTTCCGAGCTGCCACT	0.667			NA											4	68					0.00024832	0.000483498	0.000248	1	0
CHRNA2	1135	broad.mit.edu	37	8	27320615	27320615	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr8:27320615G>A	uc010lur.2	-	6	1954	c.1345C>T	c.(1345-1347)CCC>TCC	p.P449S	CHRNA2_uc011lal.1_Missense_Mutation_p.P434S|CHRNA2_uc010lus.2_Missense_Mutation_p.P251S	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha	449	Cytoplasmic.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)	1		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	TCAGCCTTGGGACCTGAGGCC	0.642			NA											33	34					0	0	0.002096	0	0
ELP3	55140	broad.mit.edu	37	8	27957430	27957430	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr8:27957430C>T	uc003xgo.3	+	3	353	c.205C>T	c.(205-207)CGC>TGC	p.R69C	ELP3_uc003xgn.3_Missense_Mutation_p.R54C|ELP3_uc011laq.1_5'UTR|ELP3_uc011lar.1_Intron|ELP3_uc011las.1_5'UTR|ELP3_uc011lat.1_Intron	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	elongation protein 3 homolog	69					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding				0		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		TCCTCAGTATCGCAAGGTCTT	0.507			NA											6	77					0	0	0.001168	0	0
PXDNL	137902	broad.mit.edu	37	8	52336233	52336233	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr8:52336233G>A	uc003xqu.3	-	14	1798	c.1697C>T	c.(1696-1698)ACT>ATT	p.T566I		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	566	Ig-like C2-type 4.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GTCGTAGATAGTCAGCGTGCC	0.483			NA											13	22					0	0	0.001368	0	0
CNGB3	54714	broad.mit.edu	37	8	87588277	87588277	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr8:87588277C>G	uc003ydx.2	-	18	2231	c.2185G>C	c.(2185-2187)GAA>CAA	p.E729Q	CNGB3_uc010maj.2_Missense_Mutation_p.E586Q	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	729	Cytoplasmic (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						tcttcattttctttttgttta	0.209			NA											15	23					0	0	0.00245	0	0
CDH17	1015	broad.mit.edu	37	8	95164106	95164106	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr8:95164106G>T	uc003ygh.2	-	13	1911	c.1786C>A	c.(1786-1788)CTG>ATG	p.L596M	CDH17_uc011lgo.1_Missense_Mutation_p.L382M|CDH17_uc011lgp.1_Missense_Mutation_p.L596M	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	596	Cadherin 6.|Extracellular (Potential).					integral to membrane	calcium ion binding			ovary(5)|skin(1)	6	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTTATGTCCAGACCTTCTGGA	0.547			NA											25	48					2.65835e-16	6.38551e-16	0.001271	1	0
TM7SF4	81501	broad.mit.edu	37	8	105361554	105361554	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr8:105361554G>C	uc003ylx.1	+	2	823	c.774G>C	c.(772-774)GAG>GAC	p.E258D		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	258					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATGAAAGGGAGAGACATCAAC	0.463			NA											4	82					0	0	0.000248	0	0
CSMD3	114788	broad.mit.edu	37	8	113662525	113662525	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr8:113662525G>T	uc003ynu.2	-	19	3217	c.3058C>A	c.(3058-3060)CGT>AGT	p.R1020S	CSMD3_uc003yns.2_Missense_Mutation_p.R292S|CSMD3_uc003ynt.2_Missense_Mutation_p.R980S|CSMD3_uc011lhx.1_Missense_Mutation_p.R916S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1020	Extracellular (Potential).|Sushi 5.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CCATAGCGACGGCCATGTACA	0.423			NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			34	50					6.53348e-20	1.61375e-19	0.003755	1	0
ZHX2	22882	broad.mit.edu	37	8	123963987	123963987	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr8:123963987G>T	uc003ypk.1	+	3	804	c.237G>T	c.(235-237)GAG>GAT	p.E79D		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	79	C2H2-type 1.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GTGGTTATGAGTGCAAATACT	0.483	Esophageal Squamous(94;1056 1388 11767 13799 49639)		NA											24	35					3.01185e-09	6.37964e-09	0.003954	1	0
C9orf72	203228	broad.mit.edu	37	9	27556654	27556654	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr9:27556654C>T	uc003zqq.2	-	8	1093	c.996G>A	c.(994-996)ATG>ATA	p.M332I		NM_018325	NP_060795	Q96LT7	CI072_HUMAN	hypothetical protein LOC203228 isoform a	332										ovary(3)|central_nervous_system(1)	4		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		GCTCGGATCTCATGTATCTAC	0.448			NA											50	23					0	0	0.00361	0	0
TAF1L	138474	broad.mit.edu	37	9	32634692	32634692	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr9:32634692C>T	uc003zrg.1	-	1	976	c.886G>A	c.(886-888)GAG>AAG	p.E296K	uc003zrh.1_RNA	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	296					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CATTCCACCTCCTGGATCTGC	0.502			NA											5	76					0	0	0.001984	0	0
UBAP2	55833	broad.mit.edu	37	9	33953410	33953410	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr9:33953410G>A	uc003ztq.1	-	12	1042	c.929C>T	c.(928-930)TCC>TTC	p.S310F	UBAP2_uc011loc.1_Missense_Mutation_p.S219F|UBAP2_uc011lod.1_Missense_Mutation_p.S43F|UBAP2_uc011loe.1_Missense_Mutation_p.S65F|UBAP2_uc011lof.1_Missense_Mutation_p.S235F|UBAP2_uc011log.1_Missense_Mutation_p.S256F|UBAP2_uc003ztr.2_Missense_Mutation_p.S182F|SNORD121A_uc010mjz.2_5'Flank	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	310										ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		AGTTTCAAAGGAGTTGGCTTC	0.507			NA											4	27					0	0	0.000248	0	0
MAMDC2	256691	broad.mit.edu	37	9	72755089	72755089	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr9:72755089C>A	uc004ahm.2	+	8	1640	c.1023C>A	c.(1021-1023)AGC>AGA	p.S341R	MAMDC2_uc004ahn.2_RNA	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	MAM domain containing 2 precursor	341	MAM 3.					endoplasmic reticulum|membrane				central_nervous_system(1)|pancreas(1)	2						TGGAAGCCAGCTGCAATTTTG	0.448			NA											33	48					1.21669e-08	2.54631e-08	0.003271	1	0
PRUNE2	158471	broad.mit.edu	37	9	79321336	79321336	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr9:79321336C>T	uc010mpk.2	-	8	5978	c.5854G>A	c.(5854-5856)GAA>AAA	p.E1952K	PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	1952					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						GTAGGTGTTTCAGGAGTCAGC	0.463			NA											5	92					0	0	0.001168	0	0
SPTAN1	6709	broad.mit.edu	37	9	131371197	131371197	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr9:131371197C>T	uc004bvl.3	+	35	4649	c.4536C>T	c.(4534-4536)ATC>ATT	p.I1512I	SPTAN1_uc004bvm.3_Silent_p.I1512I|SPTAN1_uc004bvn.3_Silent_p.I1492I	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1512	Spectrin 16.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						ACCAGCTCATCGCTGCCGGCC	0.577	NSCLC(120;833 1744 2558 35612 37579)		NA											9	230					0	0	0.000443	0	0
C9orf171	389799	broad.mit.edu	37	9	135285781	135285781	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr9:135285781C>T	uc004cbn.2	+	1	171	c.123C>T	c.(121-123)ATC>ATT	p.I41I	C9orf171_uc004cbo.2_Silent_p.I41I	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	hypothetical protein LOC389799	41										ovary(4)|large_intestine(1)	5						TGGCGGACATCCGTTCCGGCA	0.592			NA											7	6					0	0	0.004482	0	0
C9orf171	389799	broad.mit.edu	37	9	135285844	135285844	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr9:135285844C>T	uc004cbn.2	+	1	234	c.186C>T	c.(184-186)CTC>CTT	p.L62L	C9orf171_uc004cbo.2_Silent_p.L62L	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	hypothetical protein LOC389799	62										ovary(4)|large_intestine(1)	5						AGAACCCTCTCATCGTCAAGG	0.463			NA											12	5					0	0	0.001855	0	0
KIAA0649	9858	broad.mit.edu	37	9	138377496	138377496	+	Silent	SNP	A	A	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr9:138377496A>T	uc004cfr.1	+	4	1689	c.1140A>T	c.(1138-1140)ACA>ACT	p.T380T		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	380						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		TGCAGAAAACACGCAAGGAGG	0.627			NA											23	42					0	0	0.002299	0	0
KCNT1	57582	broad.mit.edu	37	9	138657014	138657014	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr9:138657014C>A	uc011mdq.1	+	12	1247	c.1173C>A	c.(1171-1173)AAC>AAA	p.N391K	KCNT1_uc011mdr.1_Missense_Mutation_p.N218K|KCNT1_uc010nbf.2_Missense_Mutation_p.N346K|KCNT1_uc004cgo.1_Missense_Mutation_p.N140K	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	391						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACTTCCTGAACGAGTTCTACG	0.642			NA											30	71					9.65963e-10	2.08398e-09	0.003271	1	0
TUBBP5	643224	broad.mit.edu	37	9	141070935	141070935	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr9:141070935C>T	uc004com.2	+	4	599	c.338C>T	c.(337-339)GCC>GTC	p.A113V	TUBBP5_uc010ncq.2_3'UTR					RecName: Full=Putative tubulin beta-4q chain;												0						CCCTACAACGCCACCCTCTCA	0.517			NA											5	75					0	0	0.001168	0	0
FAM47C	442444	broad.mit.edu	37	X	37028632	37028632	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chrX:37028632G>T	uc004ddl.1	+	1	2163	c.2149G>T	c.(2149-2151)GAG>TAG	p.E717*		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	717										ovary(3)	3						TCTCCACGCGGAGCCTCCTGA	0.627			NA											50	14					1.81118e-26	4.57046e-26	0.00361	1	0
MED12	9968	broad.mit.edu	37	X	70346925	70346925	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chrX:70346925G>C	uc004dyy.2	+	20	2991	c.2792G>C	c.(2791-2793)CGG>CCG	p.R931P	MED12_uc011mpq.1_Missense_Mutation_p.R931P|MED12_uc004dyz.2_Missense_Mutation_p.R931P|MED12_uc004dza.2_Missense_Mutation_p.R778P|MED12_uc010nla.2_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	931					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					GCTGTCCTGCGGCACTATCAT	0.527			NA											20	9					0	0	0.000958	0	0
CYLC1	1538	broad.mit.edu	37	X	83128707	83128707	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chrX:83128707G>C	uc004eei.1	+	4	1012	c.991G>C	c.(991-993)GAG>CAG	p.E331Q	CYLC1_uc004eeh.1_Missense_Mutation_p.E330Q	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	331	2.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						GAAGGACACAGAGTCTACTGA	0.234			NA											9	1					0	0	0.004482	0	0
THOC2	57187	broad.mit.edu	37	X	122830595	122830595	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chrX:122830595G>A	uc004etu.2	-	6	475	c.443C>T	c.(442-444)TCA>TTA	p.S148L	THOC2_uc011muh.1_Missense_Mutation_p.S69L|THOC2_uc011mui.1_Missense_Mutation_p.S33L	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	148					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						GATTTTAACTGACTTTTGATT	0.348			NA											5	29					0	0	0.000602	0	0
STAG2	10735	broad.mit.edu	37	X	123224615	123224615	+	Splice_Site	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chrX:123224615G>A	uc004etz.3	+	30	3806	c.3467_splice	c.e30+1	p.N1156_splice	STAG2_uc004eua.2_Splice_Site_p.N1156_splice|STAG2_uc004eub.2_Splice_Site_p.N1156_splice|STAG2_uc004euc.2_Splice_Site_p.N1156_splice|STAG2_uc004eud.2_Splice_Site_p.N1156_splice|STAG2_uc004eue.2_Splice_Site_p.N1156_splice	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b						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						TTGATTATAAGTAAGTACATT	0.338			NA											6	19					0	0	0.001984	0	0
SMARCA1	6594	broad.mit.edu	37	X	128650465	128650465	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chrX:128650465G>A	uc004eun.3	-	3	384	c.271C>T	c.(271-273)CGA>TGA	p.R91*	SMARCA1_uc004eup.3_Nonsense_Mutation_p.R91*|SMARCA1_uc011muk.1_Nonsense_Mutation_p.R91*|SMARCA1_uc011mul.1_Nonsense_Mutation_p.R91*	NM_003069	NP_003060	P28370	SMCA1_HUMAN	SWI/SNF-related matrix-associated	91					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			ovary(3)|skin(1)	4						CTCTTTGCTCGGTCGGCTTTC	0.299			NA											41	10					0	0	0.001951	0	0
GPR112	139378	broad.mit.edu	37	X	135405197	135405197	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chrX:135405197C>A	uc004ezu.1	+	5	622	c.331C>A	c.(331-333)CGT>AGT	p.R111S	GPR112_uc010nsb.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	111	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)					CTTTTCTATCCGTCACCACCT	0.433			NA											53	14					5.99346e-17	1.44463e-16	0.00361	1	0
SLITRK2	84631	broad.mit.edu	37	X	144903954	144903954	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chrX:144903954G>A	uc004fcd.2	+	5	1001	c.11G>A	c.(10-12)GGC>GAC	p.G4D	SLITRK2_uc010nsp.2_Missense_Mutation_p.G4D|SLITRK2_uc010nso.2_Missense_Mutation_p.G4D|SLITRK2_uc011mwq.1_Missense_Mutation_p.G4D|SLITRK2_uc011mwr.1_Missense_Mutation_p.G4D|SLITRK2_uc011mws.1_Missense_Mutation_p.G4D|SLITRK2_uc004fcg.2_Missense_Mutation_p.G4D|SLITRK2_uc011mwt.1_Missense_Mutation_p.G4D	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	4						integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					ATGCTGAGCGGCGTTTGGTTC	0.532			NA											17	6					0	0	0.000958	0	0
MTMR1	8776	broad.mit.edu	37	X	149905079	149905079	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chrX:149905079G>A	uc004fei.2	+	10	1204	c.1069G>A	c.(1069-1071)GGA>AGA	p.G357R	MTMR1_uc011mya.1_Missense_Mutation_p.G263R|MTMR1_uc004feh.1_Missense_Mutation_p.G365R|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_Intron	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	myotubularin-related protein 1	357	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGGGTGGAGGATATGAAAG	0.363			NA											17	8					0	0	0.001216	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819502	50819502	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr10:50819502delC	uc001jhw.2	+	1	1156	c.716delC	c.(715-717)GCCfs	p.A239fs	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	239	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						TATGAGTTCGCCGGCAAGCGC	0.662			NA											7	10	---	---	---	---	NA	NA	NA	NA	NA
OR4C16	219428	broad.mit.edu	37	11	55339854	55339854	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:55339854delT	uc010rih.1	+	1	251	c.251delT	c.(250-252)CTTfs	p.L84fs		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	84	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)				GTGGATGCCCTTTTGAAGAAG	0.443			NA											81	159	---	---	---	---	NA	NA	NA	NA	NA
OR11H12	440153	broad.mit.edu	37	14	19378148	19378149	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr14:19378148_19378149delCC	uc010tkp.1	+	1	555_556	c.555_556delCC	c.(553-558)GGCCCAfs	p.G185fs		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H,	185_186	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTTCTGTGGCCCAAACATTAT	0.485			NA											10	74	---	---	---	---	NA	NA	NA	NA	NA
MKRN3	7681	broad.mit.edu	37	15	23811405	23811405	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:23811405delC	uc001ywh.3	+	1	952	c.476delC	c.(475-477)GCCfs	p.A159fs	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Frame_Shift_Del_p.A159fs	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	159						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GTGGCGGAAGCCCCCCCGGCT	0.642			NA											9	27	---	---	---	---	NA	NA	NA	NA	NA
PHF23	79142	broad.mit.edu	37	17	7139891	7139891	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:7139891delG	uc002gfa.2	-	4	582	c.355delC	c.(355-357)CTGfs	p.L119fs	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.1_Intron|PHF23_uc010cma.2_5'UTR	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	119							zinc ion binding				0						GGGGCCTGCAGACGAGAGAAA	0.537			NA											39	69	---	---	---	---	NA	NA	NA	NA	NA
STK11	6794	broad.mit.edu	37	19	1221313	1221314	+	Frame_Shift_Ins	INS	-	-	C	rs67873004		TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:1221313_1221314insC	uc002lrl.1	+	6	1951_1952	c.836_837insC	c.(835-837)GGCfs	p.G279fs		NM_000455	NP_000446	Q15831	STK11_HUMAN	serine/threonine protein kinase 11	279	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(19)|p.P281fs*6(2)|p.?(2)|p.G279F(1)|p.Y246fs*3(1)		lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGACTGTGGCCCCCCGCTCT	0.604			14	D|Mis|N|F|S		NSCLC|pancreatic	jejunal harmartoma|ovarian|testicular|pancreatic			Peutz-Jeghers_syndrome	TSP Lung(3;<1E-08)			4	5	---	---	---	---	NA	NA	NA	NA	NA
KEAP1	9817	broad.mit.edu	37	19	10600425	10600425	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:10600425delC	uc002moq.1	-	4	1586	c.1430delG	c.(1429-1431)GGCfs	p.G477fs	KEAP1_uc002mop.1_Frame_Shift_Del_p.G195fs|KEAP1_uc002mor.1_Frame_Shift_Del_p.G477fs	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	477	Kelch 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CCCGTCAAAGCCCCCCACGGC	0.577			NA											25	17	---	---	---	---	NA	NA	NA	NA	NA
CSNK1A1	1452	broad.mit.edu	37	5	148930440	148930440	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:148930440delC	uc003lqx.1	-	1	568	c.88delG	c.(88-90)GACfs	p.D30fs	CSNK1A1_uc011dcc.1_5'Flank|CSNK1A1_uc003lqv.1_5'Flank|CSNK1A1_uc003lqw.1_Frame_Shift_Del_p.D30fs|CSNK1A1_uc003lqy.1_Frame_Shift_Del_p.D30fs|CSNK1A1_uc010jha.1_Frame_Shift_Del_p.D30fs	NM_001892	NP_001883	P48729	KC1A_HUMAN	casein kinase 1, alpha 1 isoform 2	30	ATP (By similarity).|Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein binding|protein serine/threonine kinase activity			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		AAATAGATGTCCCCGAAGGAG	0.537	Colon(5;64 69 1309 10383)		NA											25	50	---	---	---	---	NA	NA	NA	NA	NA
FTSJ1	24140	broad.mit.edu	37	X	48339704	48339704	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chrX:48339704delA	uc004djo.1	+	7	765	c.442delA	c.(442-444)AAGfs	p.K148fs	FTSJ1_uc004djl.2_Frame_Shift_Del_p.K148fs|FTSJ1_uc004djm.2_Frame_Shift_Del_p.K148fs|FTSJ1_uc004djn.1_Frame_Shift_Del_p.K148fs|FTSJ1_uc004djp.1_Frame_Shift_Del_p.K148fs|FTSJ1_uc011mlw.1_Frame_Shift_Del_p.K11fs	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN	FtsJ homolog 1 isoform a	148					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding				0						ACATGTCCTGAAGCCAGGGGG	0.612			NA											12	3	---	---	---	---	NA	NA	NA	NA	NA
STAG2	10735	broad.mit.edu	37	X	123197866	123197866	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chrX:123197866delA	uc004etz.3	+	19	2329	c.1990delA	c.(1990-1992)AAAfs	p.K664fs	STAG2_uc004eua.2_Frame_Shift_Del_p.K664fs|STAG2_uc004eub.2_Frame_Shift_Del_p.K664fs|STAG2_uc004euc.2_Frame_Shift_Del_p.K664fs|STAG2_uc004eud.2_Frame_Shift_Del_p.K664fs|STAG2_uc004eue.2_Frame_Shift_Del_p.K664fs	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	664					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						ATTGGCAGATAAATTTAACCG	0.343			NA											9	8	---	---	---	---	NA	NA	NA	NA	NA
