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	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	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	validation_status	validation_method	validation_tumor_sample	validation_alt_allele
CYP4Z2P	163720	broad.mit.edu	37	1	47365870	47365870	+	Intron	DEL	T	-	-			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47365870delT	uc001cqo.1	-						CYP4Z2P_uc009vyn.1_Intron	NR_002788				Homo sapiens cDNA FLJ40054 fis, clone TBAES2000315, weakly similar to CYTOCHROME P450 4A1 (EC 1.14.15.3).												0																		---	---	---	---
PHTF1	10745	broad.mit.edu	37	1	114249474	114249474	+	Intron	DEL	T	-	-	rs144309944		TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114249474delT	uc009wgp.1	-						PHTF1_uc001edn.2_Intron|PHTF1_uc001edm.2_Intron|PHTF1_uc001edo.1_Intron	NM_006608	NP_006599			putative homeodomain transcription factor 1							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
SLC9A11	284525	broad.mit.edu	37	1	173556683	173556683	+	Intron	DEL	A	-	-			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173556683delA	uc001giz.2	-						SLC9A11_uc010pmq.1_Intron	NM_178527	NP_848622			solute carrier family 9, member 11						sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2																		---	---	---	---
GREM2	64388	broad.mit.edu	37	1	240656838	240656839	+	Intron	INS	-	T	T	rs9728484	byFrequency;by1000genomes	TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240656838_240656839insT	uc001hys.2	-							NM_022469	NP_071914			gremlin 2 precursor						BMP signaling pathway	extracellular space	cytokine activity				0		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)															---	---	---	---
MRPL30	51263	broad.mit.edu	37	2	99779642	99779643	+	Intron	INS	-	A	A	rs35419218		TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:99779642_99779643insA	uc002szr.2	+						MRPL30_uc002szl.1_Intron	NM_145213	NP_660214			SubName: Full=HCG1989457, isoform CRA_a; SubName: Full=Putative uncharacterized protein MRPL30;						translation	mitochondrion|ribosome	structural constituent of ribosome			ovary(1)	1																		---	---	---	---
HNRNPA3	220988	broad.mit.edu	37	2	178082357	178082360	+	Intron	DEL	ACAC	-	-			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:178082357_178082360delACAC	uc002ulb.1	+						HNRNPA3_uc002ulc.1_Intron|HNRNPA3_uc002uld.2_Intron|HNRNPA3_uc002ule.2_Intron	NM_194247	NP_919223			heterogeneous nuclear ribonucleoprotein A3							catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			ovary(2)	2																		---	---	---	---
CYP27A1	1593	broad.mit.edu	37	2	219674165	219674166	+	Intron	INS	-	TTT	TTT	rs72044542		TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219674165_219674166insTTT	uc002viz.3	+							NM_000784	NP_000775			cytochrome P450, family 27, subfamily A,						bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)													---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4715262	4715273	+	Intron	DEL	TTTGTTTGTTTG	-	-	rs112871347		TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:4715262_4715273delTTTGTTTGTTTG	uc003bqa.2	+						ITPR1_uc010hca.1_Intron|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Intron	NM_001099952	NP_001093422			inositol 1,4,5-triphosphate receptor, type 1						activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)														---	---	---	---
MST1	4485	broad.mit.edu	37	3	49724049	49724049	+	Intron	DEL	C	-	-			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49724049delC	uc003cxg.2	-						MST1_uc011bcs.1_Intron|MST1_uc010hkx.2_Intron|MST1_uc011bct.1_Intron|MST1_uc011bcu.1_Intron|RNF123_uc003cxh.2_5'Flank	NM_020998	NP_066278			macrophage stimulating 1 (hepatocyte growth						proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)														---	---	---	---
PTPLB	201562	broad.mit.edu	37	3	123262512	123262512	+	Intron	DEL	A	-	-			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:123262512delA	uc003egj.2	-							NM_198402	NP_940684			protein tyrosine phosphatase-like (proline						fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein binding			kidney(1)	1				GBM - Glioblastoma multiforme(114;0.1)														---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85663138	85663139	+	Intron	INS	-	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85663138_85663139insA	uc003hpd.2	-							NM_014991	NP_055806			WD repeat and FYVE domain containing 3 isoform							cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)														---	---	---	---
WDR70	55100	broad.mit.edu	37	5	37403046	37403047	+	Intron	INS	-	T	T	rs34314525		TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37403046_37403047insT	uc003jkv.2	+						WDR70_uc010iva.1_Intron	NM_018034	NP_060504			WD repeat domain 70											ovary(1)|central_nervous_system(1)	2	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---
CKMT2	1160	broad.mit.edu	37	5	80546759	80546760	+	Intron	INS	-	AC	AC	rs142418532	by1000genomes	TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:80546759_80546760insAC	uc003khc.3	+						RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Intron|CKMT2_uc003khd.3_Intron|uc003khe.1_Intron|uc003khf.1_Intron|uc003khg.1_Intron	NM_001825	NP_001816			sarcomeric mitochondrial creatine kinase						creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity				0		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)													---	---	---	---
MRS2	57380	broad.mit.edu	37	6	24418168	24418169	+	Intron	INS	-	A	A	rs75694059		TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24418168_24418169insA	uc003neb.2	+						MRS2_uc003nea.2_Intron|MRS2_uc011djl.1_Intron|MRS2_uc011djm.1_Intron|MRS2_uc011djn.1_Intron|MRS2_uc003nec.2_Intron	NM_020662	NP_065713			MRS2-like, magnesium homeostasis factor						ion transport	integral to membrane|mitochondrial inner membrane					0																		---	---	---	---
SRPK1	6732	broad.mit.edu	37	6	35810504	35810504	+	Intron	DEL	A	-	-			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:35810504delA	uc003olj.2	-						SRPK1_uc011dtg.1_Intron|SRPK1_uc003olh.2_Intron|SRPK1_uc003oli.2_Intron	NM_003137	NP_003128			SFRS protein kinase 1						cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1																		---	---	---	---
SFRS3	6428	broad.mit.edu	37	6	36568778	36568778	+	Intron	DEL	C	-	-	rs60747144		TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:36568778delC	uc003omj.2	+						SFRS3_uc003omk.2_Intron	NM_003017	NP_003008			splicing factor, arginine/serine-rich 3						mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding				0								T	BCL6	follicular lymphoma								---	---	---	---
SOBP	55084	broad.mit.edu	37	6	107956280	107956282	+	In_Frame_Del	DEL	GCC	-	-			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:107956280_107956282delGCC	uc003prx.2	+	6	2736_2738	c.2232_2234delGCC	c.(2230-2235)CAGCCG>CAG	p.P751del		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	751	Pro-rich.						metal ion binding			ovary(1)	1		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)														---	---	---	---
Unknown	0	broad.mit.edu	37	7	57929445	57929445	+	IGR	DEL	A	-	-			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:57929445delA								ZNF716 (396180 upstream) : None (None downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	7	65976420	65976420	+	IGR	DEL	A	-	-			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:65976420delA								NCRNA00174 (111025 upstream) : LOC493754 (17026 downstream)																																			---	---	---	---
NRF1	4899	broad.mit.edu	37	7	129395139	129395139	+	3'UTR	DEL	T	-	-			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:129395139delT	uc003voz.2	+	11					NRF1_uc003vpa.2_3'UTR|NRF1_uc011kpa.1_3'UTR|NRF1_uc003vpb.2_3'UTR	NM_005011	NP_005002			nuclear respiratory factor 1						generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1																		---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138555817	138555817	+	Intron	DEL	C	-	-	rs35334186		TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138555817delC	uc011kql.1	-						KIAA1549_uc011kqi.1_Intron|KIAA1549_uc003vuk.3_Intron|KIAA1549_uc011kqj.1_Intron|KIAA1549_uc011kqk.1_Intron	NM_020910	NP_065961			hypothetical protein LOC57670 isoform 1							integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230								O	BRAF	pilocytic astrocytoma								---	---	---	---
Unknown	0	broad.mit.edu	37	7	142448200	142448207	+	Intron	DEL	GGTGGAAA	-	-	rs112413030	by1000genomes	TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142448200_142448207delGGTGGAAA	uc011krr.1	+						uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|uc011ksl.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																														---	---	---	---
CA1	759	broad.mit.edu	37	8	86250862	86250889	+	Intron	DEL	TTTCTTTCTTTCTTTCTTTCTTTCTTTC	-	-	rs56255763	by1000genomes	TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:86250862_86250889delTTTCTTTCTTTCTTTCTTTCTTTCTTTC	uc003ydh.2	-						CA13_uc003ydf.1_Intron|CA1_uc010mae.1_Intron|CA1_uc003ydi.2_Intron	NM_001738	NP_001729			carbonic anhydrase I						one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)													---	---	---	---
LYPD2	137797	broad.mit.edu	37	8	143833668	143833669	+	Intron	INS	-	GG	GG	rs140886582	by1000genomes	TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:143833668_143833669insGG	uc003ywz.2	-							NM_205545	NP_991108			LY6/PLAUR domain containing 2 precursor							anchored to membrane|plasma membrane					0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)																	---	---	---	---
Unknown	0	broad.mit.edu	37	10	19229980	19229981	+	IGR	INS	-	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:19229980_19229981insA								ARL5B (263040 upstream) : PLXDC2 (875391 downstream)																																			---	---	---	---
SPAG6	9576	broad.mit.edu	37	10	22653957	22653958	+	Intron	INS	-	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:22653957_22653958insA	uc001iri.2	+						SPAG6_uc001irj.2_Intron|SPAG6_uc010qct.1_Intron|SPAG6_uc009xkh.2_Intron	NM_012443	NP_036575			sperm associated antigen 6 isoform 1						cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(1)	1																		---	---	---	---
FAM21C	253725	broad.mit.edu	37	10	46224179	46224179	+	Intron	DEL	A	-	-			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:46224179delA	uc001jcu.2	+						FAM21C_uc001jcs.1_Intron|FAM21C_uc001jct.2_Intron|FAM21C_uc010qfi.1_Intron	NM_015262	NP_056077			hypothetical protein LOC253725											ovary(1)	1																		---	---	---	---
C11orf46	120534	broad.mit.edu	37	11	30358033	30358034	+	Intron	DEL	CT	-	-	rs77082221		TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:30358033_30358034delCT	uc001mso.1	+						C11orf46_uc001msp.2_5'Flank	NM_152316	NP_689529			hypothetical protein LOC120534												0																		---	---	---	---
OR4C16	219428	broad.mit.edu	37	11	55339546	55339546	+	5'Flank	DEL	T	-	-			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55339546delT	uc010rih.1	+							NM_001004701	NP_001004701			olfactory receptor, family 4, subfamily C,						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)																---	---	---	---
SESN3	143686	broad.mit.edu	37	11	94906605	94906606	+	Intron	DEL	AC	-	-			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:94906605_94906606delAC	uc001pfk.1	-						uc001pfj.2_5'Flank|SESN3_uc010rug.1_Intron	NM_144665	NP_653266			sestrin 3						cell cycle arrest	nucleus					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)														---	---	---	---
Unknown	0	broad.mit.edu	37	11	96515015	96515016	+	IGR	INS	-	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:96515015_96515016insC								JRKL (388288 upstream) : None (None downstream)																																			---	---	---	---
C11orf92	399948	broad.mit.edu	37	11	111170479	111170479	+	5'UTR	DEL	A	-	-			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:111170479delA	uc001pld.2	-	1					C11orf92_uc001ple.2_Intron|C11orf93_uc010rwf.1_Intron	NM_207429	NP_997312			hypothetical protein LOC399948											lung(1)	1																		---	---	---	---
SORL1	6653	broad.mit.edu	37	11	121500393	121500393	+	3'UTR	DEL	C	-	-			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:121500393delC	uc001pxx.2	+	48					SORL1_uc010rzp.1_3'UTR|SORL1_uc010rzq.1_3'UTR	NM_003105	NP_003096			sortilin-related receptor containing LDLR class						cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)														---	---	---	---
Unknown	0	broad.mit.edu	37	12	27288144	27288144	+	IGR	DEL	A	-	-	rs11301501		TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:27288144delA								C12orf71 (52689 upstream) : STK38L (108934 downstream)																																			---	---	---	---
IRAK3	11213	broad.mit.edu	37	12	66583056	66583056	+	5'UTR	DEL	C	-	-			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:66583056delC	uc001sth.2	+	1					IRAK3_uc001stg.2_5'UTR|IRAK3_uc010ssy.1_5'UTR	NM_007199	NP_009130			interleukin-1 receptor-associated kinase 3						interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8				GBM - Glioblastoma multiforme(28;0.0203)														---	---	---	---
RAB21	23011	broad.mit.edu	37	12	72163724	72163724	+	Intron	DEL	T	-	-			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:72163724delT	uc001swt.2	+							NM_014999	NP_055814			RAB21, member RAS oncogene family						protein transport|small GTPase mediated signal transduction	cleavage furrow|cytoplasmic vesicle membrane|early endosome membrane|endoplasmic reticulum membrane|Golgi membrane	GDP binding|GTP binding|GTPase activity|protein binding				0																		---	---	---	---
ATP2B1	490	broad.mit.edu	37	12	90010463	90010464	+	Intron	INS	-	A	A	rs76172295		TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:90010463_90010464insA	uc001tbh.2	-						ATP2B1_uc001tbg.2_Intron|ATP2B1_uc001tbf.2_Intron	NM_001682	NP_001673			plasma membrane calcium ATPase 1 isoform 1b						ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
SVOP	55530	broad.mit.edu	37	12	109332881	109332881	+	Intron	DEL	T	-	-			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109332881delT	uc010sxh.1	-							NM_018711	NP_061181			SV2 related protein							cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity				0																		---	---	---	---
TRPV4	59341	broad.mit.edu	37	12	110240643	110240644	+	Intron	INS	-	CATC	CATC	rs112575595		TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110240643_110240644insCATC	uc001tpj.1	-						TRPV4_uc001tpg.1_Intron|TRPV4_uc001tph.1_Intron|TRPV4_uc001tpi.1_Intron|TRPV4_uc001tpk.1_Intron|TRPV4_uc001tpl.1_Intron	NM_021625	NP_067638			transient receptor potential cation channel,						actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4																		---	---	---	---
C12orf24	29902	broad.mit.edu	37	12	110911024	110911025	+	Intron	INS	-	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110911024_110911025insT	uc001tqu.3	+						C12orf24_uc010sxz.1_Intron|C12orf24_uc009zvo.2_Intron|C12orf24_uc001tqt.2_Intron|C12orf24_uc001tqv.3_Intron	NM_013300	NP_037432			hypothetical protein LOC29902												0																		---	---	---	---
CKAP2	26586	broad.mit.edu	37	13	53042306	53042307	+	Intron	INS	-	TG	TG	rs138484357	by1000genomes	TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:53042306_53042307insTG	uc001vgv.2	+						CKAP2_uc001vgu.2_Intron|CKAP2_uc010tha.1_Intron	NM_001098525	NP_001091995			cytoskeleton associated protein 2 isoform 2						apoptosis|cell cycle	centrosome|microtubule|spindle pole				ovary(1)|skin(1)	2		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)														---	---	---	---
KLF5	688	broad.mit.edu	37	13	73650108	73650109	+	3'UTR	INS	-	A	A	rs148760123	by1000genomes	TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:73650108_73650109insA	uc001vje.2	+	4					KLF5_uc001vjd.2_3'UTR	NM_001730	NP_001721			Kruppel-like factor 5						transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)														---	---	---	---
TBC1D4	9882	broad.mit.edu	37	13	75894317	75894317	+	Intron	DEL	T	-	-			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:75894317delT	uc001vjl.1	-						TBC1D4_uc010aer.2_Intron|TBC1D4_uc010aes.2_Intron	NM_014832	NP_055647			TBC1 domain family, member 4							cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)														---	---	---	---
NRXN3	9369	broad.mit.edu	37	14	79175467	79175467	+	Intron	DEL	T	-	-			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:79175467delT	uc001xun.2	+						NRXN3_uc001xum.1_Intron|NRXN3_uc010asv.1_Intron	NM_004796	NP_004787			neurexin 3 isoform 1 precursor						axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)														---	---	---	---
SNRPN	6638	broad.mit.edu	37	15	25212956	25212956	+	Intron	DEL	A	-	-	rs35146696		TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25212956delA	uc001ywp.1	+						SNRPN_uc001ywq.1_Intron|SNRPN_uc001ywr.1_Intron|SNRPN_uc001yws.1_Intron|SNRPN_uc001ywt.1_Intron|SNURF_uc001ywu.2_Intron|SNRPN_uc001ywv.1_Intron|SNRPN_uc001yww.1_Intron|SNRPN_uc001ywx.1_Intron|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_Intron	NM_022807	NP_073718			small nuclear ribonucleoprotein polypeptide N						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)										Prader-Willi_syndrome				---	---	---	---
PRC1	9055	broad.mit.edu	37	15	91523763	91523764	+	Intron	INS	-	G	G	rs28584391		TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91523763_91523764insG	uc002bqm.2	-						PRC1_uc002bqn.2_Intron|PRC1_uc002bqo.2_Intron|PRC1_uc010uqs.1_Intron	NM_003981	NP_003972			protein regulator of cytokinesis 1 isoform 1						cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			ovary(1)|skin(1)	2	Lung NSC(78;0.0987)|all_lung(78;0.175)																	---	---	---	---
RAB11FIP3	9727	broad.mit.edu	37	16	538720	538721	+	Intron	INS	-	C	C	rs138125235		TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:538720_538721insC	uc002chf.2	+						RAB11FIP3_uc010uuf.1_Intron|RAB11FIP3_uc010uug.1_Intron	NM_014700	NP_055515			rab11-family interacting protein 3 isoform 1						cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding				0		Hepatocellular(16;0.0218)																---	---	---	---
CA5A	763	broad.mit.edu	37	16	87926752	87926753	+	Intron	INS	-	T	T	rs7195622	by1000genomes	TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:87926752_87926753insT	uc002fkn.1	-							NM_001739	NP_001730			carbonic anhydrase VA, mitochondrial precursor						one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0513)														---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579585	7579585	+	Frame_Shift_Del	DEL	G	-	-	rs11575998		TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7579585delG	uc002gim.2	-	4	296	c.102delC	c.(100-102)CCCfs	p.P34fs	TP53_uc002gig.1_Frame_Shift_Del_p.P34fs|TP53_uc002gih.2_Frame_Shift_Del_p.P34fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.P34fs|TP53_uc010cni.1_Frame_Shift_Del_p.P34fs|TP53_uc002gij.2_Frame_Shift_Del_p.P34fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_5'UTR|TP53_uc010cnk.1_Frame_Shift_Del_p.P49fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	34	Transcription activation (acidic).|Interaction with HRMT1L2.		P -> L (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.P34L(2)|p.?(1)|p.S33fs*23(1)|p.P34fs*8(1)|p.P36fs*7(1)|p.P13fs*18(1)|p.S33fs*6(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)			111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			---	---	---	---
MYH10	4628	broad.mit.edu	37	17	8449729	8449729	+	Intron	DEL	C	-	-			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8449729delC	uc002gll.2	-						MYH10_uc002glm.2_Intron|MYH10_uc010cnx.2_Intron	NM_005964	NP_005955			myosin, heavy polypeptide 10, non-muscle						actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2																		---	---	---	---
CCDC144B	284047	broad.mit.edu	37	17	18498497	18498498	+	Intron	INS	-	A	A	rs71844421		TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18498497_18498498insA	uc002gub.1	-						CCDC144B_uc002gua.3_Intron|CCDC144B_uc010vyc.1_Intron	NM_182568	NP_872374			coiled-coil domain containing 144B											ovary(1)|skin(1)	2																		---	---	---	---
EFTUD2	9343	broad.mit.edu	37	17	42945541	42945542	+	Intron	INS	-	A	A	rs72382060		TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42945541_42945542insA	uc002ihn.2	-						EFTUD2_uc010wje.1_Intron|EFTUD2_uc010wjf.1_Intron	NM_004247	NP_004238			elongation factor Tu GTP binding domain							Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)																---	---	---	---
ACAA2	10449	broad.mit.edu	37	18	47340340	47340342	+	5'Flank	DEL	GCG	-	-			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:47340340_47340342delGCG	uc002ldw.3	-						ACAA2_uc002ldx.3_5'Flank|SCARNA17_uc002ldy.1_5'Flank	NM_006111	NP_006102			acetyl-coenzyme A acyltransferase 2						anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			ovary(1)	1																		---	---	---	---
AP3D1	8943	broad.mit.edu	37	19	2109769	2109770	+	Intron	DEL	AA	-	-			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2109769_2109770delAA	uc002luz.2	-						AP3D1_uc010dsv.2_Intron|AP3D1_uc002luy.2_Intron|AP3D1_uc002lva.2_Intron	NM_003938	NP_003929			adaptor-related protein complex 3, delta 1						eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		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)														---	---	---	---
DPF1	8193	broad.mit.edu	37	19	38712801	38712803	+	Intron	DEL	AGG	-	-			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38712801_38712803delAGG	uc002ohl.2	-						DPF1_uc002ohm.2_Intron|DPF1_uc002ohn.2_Intron|DPF1_uc010xtu.1_Intron|DPF1_uc010xtv.1_Intron|DPF1_uc010xtw.1_Intron	NM_004647	NP_004638			D4, zinc and double PHD fingers family 1 isoform						induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding				0	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)															---	---	---	---
MAVS	57506	broad.mit.edu	37	20	3843259	3843260	+	Intron	INS	-	T	T	rs138993117	by1000genomes	TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3843259_3843260insT	uc002wjw.3	+						MAVS_uc002wjx.3_Intron|MAVS_uc002wjy.3_Intron	NM_020746	NP_065797			virus-induced signaling adapter						activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity				0																		---	---	---	---
SFI1	9814	broad.mit.edu	37	22	31971049	31971049	+	Intron	DEL	A	-	-			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31971049delA	uc003ale.2	+						SFI1_uc003ald.1_Intron|SFI1_uc003alf.2_Intron|SFI1_uc003alg.2_Intron|SFI1_uc011alp.1_Intron|SFI1_uc011alq.1_Intron|SFI1_uc003alh.2_Intron|SFI1_uc010gwi.2_Intron	NM_001007467	NP_001007468			spindle assembly associated Sfi1 homolog isoform						G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1																		---	---	---	---
PRAMEF6	440561	broad.mit.edu	37	1	13001288	13001288	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:13001288T>G	uc001auq.2	-	3	481	c.395A>C	c.(394-396)AAA>ACA	p.K132T	PRAMEF5_uc001aur.2_Intron	NM_001010889	NP_001010889	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	132											0	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
PLA2G2C	391013	broad.mit.edu	37	1	20490553	20490553	+	Silent	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:20490553G>A	uc009vpq.1	-	3	384	c.384C>T	c.(382-384)CCC>CCT	p.P128P		NM_001105572	NP_001099042			phospholipase A2, group IIC precursor												0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)														---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39907918	39907918	+	Missense_Mutation	SNP	G	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39907918G>C	uc010oiu.1	+	41	14334	c.14203G>C	c.(14203-14205)GAC>CAC	p.D4735H	MACF1_uc010ois.1_Missense_Mutation_p.D4233H	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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)															---	---	---	---
LHX8	431707	broad.mit.edu	37	1	75596421	75596421	+	Intron	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:75596421A>C	uc001dgo.2	+						uc001dgp.1_RNA	NM_001001933	NP_001001933			LIM homeobox 8							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3																		---	---	---	---
OLFM3	118427	broad.mit.edu	37	1	102290763	102290763	+	Silent	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:102290763G>A	uc001duf.2	-	4	542	c.471C>T	c.(469-471)ATC>ATT	p.I157I	OLFM3_uc001dug.2_Silent_p.I137I|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Silent_p.I62I|OLFM3_uc001due.2_RNA	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3	157	Potential.					extracellular region				ovary(2)|skin(1)	3		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)														---	---	---	---
AHCYL1	10768	broad.mit.edu	37	1	110527708	110527708	+	Missense_Mutation	SNP	G	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110527708G>T	uc001dyx.2	+	1	401	c.34G>T	c.(34-36)GTC>TTC	p.V12F	AHCYL1_uc010ovw.1_5'Flank	NM_006621	NP_006612	O43865	SAHH2_HUMAN	S-adenosylhomocysteine hydrolase-like 1	12					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)														---	---	---	---
LCE2B	26239	broad.mit.edu	37	1	152659494	152659494	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152659494A>G	uc001fai.2	+	2	229	c.175A>G	c.(175-177)AGC>GGC	p.S59G		NM_014357	NP_055172	O14633	LCE2B_HUMAN	late cornified envelope 2B	59	Cys-rich.				keratinization					ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
IVL	3713	broad.mit.edu	37	1	152882716	152882716	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152882716A>C	uc001fau.2	+	2	489	c.443A>C	c.(442-444)AAG>ACG	p.K148T		NM_005547	NP_005538	P07476	INVO_HUMAN	involucrin	148					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(3)	3	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)															---	---	---	---
C1orf43	25912	broad.mit.edu	37	1	154179928	154179928	+	3'UTR	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154179928G>A	uc001fei.2	-	7					C1orf189_uc001fee.1_5'Flank|C1orf43_uc001fef.1_3'UTR|C1orf43_uc001feg.2_3'UTR|C1orf43_uc001feh.2_3'UTR|C1orf43_uc001fej.2_3'UTR|C1orf43_uc009wos.1_3'UTR	NM_001098616	NP_001092086			hypothetical protein LOC25912 isoform 3							integral to membrane	coenzyme binding|oxidoreductase activity				0	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)																	---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156921411	156921411	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156921411G>A	uc001fqo.2	-	21	2799	c.1759C>T	c.(1759-1761)CGA>TGA	p.R587*	ARHGEF11_uc010phu.1_5'Flank|ARHGEF11_uc001fqn.2_Nonsense_Mutation_p.R627*|ARHGEF11_uc001fqp.1_Nonsense_Mutation_p.R106*	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	587					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)																	---	---	---	---
CD5L	922	broad.mit.edu	37	1	157804351	157804351	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:157804351T>G	uc001frk.3	-	4	707	c.564A>C	c.(562-564)CAA>CAC	p.Q188H		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	188	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)															---	---	---	---
CD1D	912	broad.mit.edu	37	1	158151963	158151963	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158151963T>C	uc001frr.2	+	4	969	c.470T>C	c.(469-471)CTT>CCT	p.L157P	CD1D_uc009wsr.1_Missense_Mutation_p.L157P|CD1D_uc009wss.2_Missense_Mutation_p.L157P|CD1D_uc009wst.1_Missense_Mutation_p.L53P	NM_001766	NP_001757	P15813	CD1D_HUMAN	CD1D antigen precursor	157	Extracellular (Potential).				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			ovary(1)	1	all_hematologic(112;0.0378)																	---	---	---	---
OR10Z1	128368	broad.mit.edu	37	1	158576362	158576362	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158576362T>G	uc010pio.1	+	1	134	c.134T>G	c.(133-135)ATT>AGT	p.I45S		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	45	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)																	---	---	---	---
OR10Z1	128368	broad.mit.edu	37	1	158576477	158576477	+	Silent	SNP	T	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158576477T>C	uc010pio.1	+	1	249	c.249T>C	c.(247-249)TCT>TCC	p.S83S		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	83	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)																	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158651366	158651366	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158651366T>C	uc001fst.1	-	4	681	c.482A>G	c.(481-483)CAG>CGG	p.Q161R		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	161	Spectrin 3.				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)																	---	---	---	---
IFI16	3428	broad.mit.edu	37	1	159023489	159023489	+	Missense_Mutation	SNP	G	C	C	rs148215169		TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159023489G>C	uc001ftg.2	+	10	2374	c.2084G>C	c.(2083-2085)AGA>ACA	p.R695T	IFI16_uc010pis.1_Missense_Mutation_p.R695T|IFI16_uc001fth.2_Missense_Mutation_p.R238T|IFI16_uc010pit.1_Missense_Mutation_p.R294T	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	751	HIN-200 2.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)																	---	---	---	---
OR10J5	127385	broad.mit.edu	37	1	159504971	159504971	+	Missense_Mutation	SNP	G	A	A	rs149096656	byFrequency	TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159504971G>A	uc010piw.1	-	1	827	c.827C>T	c.(826-828)ACG>ATG	p.T276M		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J,	276	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_hematologic(112;0.0429)																	---	---	---	---
LRRC52	440699	broad.mit.edu	37	1	165514020	165514020	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:165514020C>T	uc001gde.2	+	1	543	c.487C>T	c.(487-489)CAG>TAG	p.Q163*	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52 precursor	163	Extracellular (Potential).|LRR 5.					integral to membrane				ovary(1)	1	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)																	---	---	---	---
C1orf129	80133	broad.mit.edu	37	1	170965747	170965747	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:170965747A>C	uc001ghg.2	+	14	1567	c.1437A>C	c.(1435-1437)GAA>GAC	p.E479D	C1orf129_uc009wvy.2_Missense_Mutation_p.E286D|C1orf129_uc010plz.1_Missense_Mutation_p.E479D	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133 isoform 2	479							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176668476	176668476	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176668476T>G	uc001gkz.2	+	8	4151	c.2987T>G	c.(2986-2988)CTG>CGG	p.L996R	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	996					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16																		---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176708800	176708800	+	Missense_Mutation	SNP	T	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176708800T>A	uc001gkz.2	+	13	5001	c.3837T>A	c.(3835-3837)TTT>TTA	p.F1279L	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1279					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186072686	186072686	+	Silent	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186072686T>G	uc001grq.1	+	69	10885	c.10656T>G	c.(10654-10656)GCT>GCG	p.A3552A		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3552	Ig-like C2-type 34.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
KCNT2	343450	broad.mit.edu	37	1	196227454	196227454	+	Silent	SNP	T	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:196227454T>C	uc001gtd.1	-	26	3141	c.3081A>G	c.(3079-3081)AAA>AAG	p.K1027K	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.K960K|KCNT2_uc001gtf.1_Silent_p.K1003K|KCNT2_uc001gtg.1_RNA|KCNT2_uc001gth.1_Silent_p.K531K	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1027	Cytoplasmic (Potential).|ATP (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7																		---	---	---	---
KCNT2	343450	broad.mit.edu	37	1	196251449	196251449	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:196251449A>C	uc001gtd.1	-	24	2795	c.2735T>G	c.(2734-2736)CTT>CGT	p.L912R	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.L838R|KCNT2_uc001gtf.1_Missense_Mutation_p.L888R|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.L888R|KCNT2_uc001gth.1_Missense_Mutation_p.L409R	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	912	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7																		---	---	---	---
CFHR4	10877	broad.mit.edu	37	1	196887413	196887413	+	Nonsense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:196887413T>G	uc001gto.2	+	6	942	c.873T>G	c.(871-873)TAT>TAG	p.Y291*	CFHR4_uc009wyy.2_Nonsense_Mutation_p.Y537*|CFHR4_uc001gtp.2_Nonsense_Mutation_p.Y538*	NM_006684	NP_006675	Q92496	FHR4_HUMAN	complement factor H-related 4 precursor	291	Sushi 5.					extracellular region	lipid transporter activity			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
F13B	2165	broad.mit.edu	37	1	197021923	197021923	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197021923T>C	uc001gtt.1	-	9	1440	c.1396A>G	c.(1396-1398)ATA>GTA	p.I466V		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	466	Sushi 8.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
CR1	1378	broad.mit.edu	37	1	207791438	207791438	+	Missense_Mutation	SNP	C	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207791438C>G	uc001hfy.2	+	34	5702	c.5562C>G	c.(5560-5562)ATC>ATG	p.I1854M	CR1_uc001hfx.2_Missense_Mutation_p.I2304M	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1854	Sushi 29.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3																		---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215824071	215824071	+	Missense_Mutation	SNP	C	T	T	rs12085358		TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:215824071C>T	uc001hku.1	-	65	14593	c.14206G>A	c.(14206-14208)GAA>AAA	p.E4736K		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4736	Fibronectin type-III 33.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216246323	216246323	+	Intron	SNP	A	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216246323A>T	uc001hku.1	-							NM_206933	NP_996816			usherin isoform B						maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216258110	216258110	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216258110T>G	uc001hku.1	-	25	5484	c.5097A>C	c.(5095-5097)CAA>CAC	p.Q1699H		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1699	Laminin G-like 1.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---
PSEN2	5664	broad.mit.edu	37	1	227081737	227081737	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:227081737A>G	uc009xeo.1	+	12	1529	c.1102A>G	c.(1102-1104)ATC>GTC	p.I368V	CABC1_uc001hqm.1_5'Flank|PSEN2_uc009xep.1_Missense_Mutation_p.I367V|PSEN2_uc001hqk.2_RNA|uc001hql.1_5'Flank	NM_000447	NP_000438	P49810	PSN2_HUMAN	presenilin 2 isoform 1	368	Cytoplasmic (Potential).				amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			lung(2)	2		Prostate(94;0.0771)																---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240555817	240555817	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240555817T>G	uc010pyd.1	+	15	5090	c.4865T>G	c.(4864-4866)ATT>AGT	p.I1622S	FMN2_uc010pye.1_Missense_Mutation_p.I1626S|FMN2_uc010pyf.1_Missense_Mutation_p.I237S|FMN2_uc010pyg.1_Missense_Mutation_p.I218S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1622	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)															---	---	---	---
AKT3	10000	broad.mit.edu	37	1	243727013	243727013	+	Intron	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:243727013G>A	uc001iab.1	-						AKT3_uc001hzz.1_Intron	NM_005465	NP_005456			AKT3 kinase isoform 1						signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|lung(1)|breast(1)|central_nervous_system(1)	4	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)															---	---	---	---
OR2AK2	391191	broad.mit.edu	37	1	248129071	248129071	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248129071T>G	uc010pzd.1	+	1	438	c.438T>G	c.(436-438)CAT>CAG	p.H146Q	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	146	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)															---	---	---	---
OR2AK2	391191	broad.mit.edu	37	1	248129218	248129218	+	Silent	SNP	A	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248129218A>G	uc010pzd.1	+	1	585	c.585A>G	c.(583-585)GAA>GAG	p.E195E	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	195	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)															---	---	---	---
OR2M5	127059	broad.mit.edu	37	1	248309375	248309375	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248309375A>G	uc010pze.1	+	1	926	c.926A>G	c.(925-927)AAG>AGG	p.K309R		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	309	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)															---	---	---	---
OR2M2	391194	broad.mit.edu	37	1	248343833	248343833	+	Silent	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248343833T>G	uc010pzf.1	+	1	546	c.546T>G	c.(544-546)CCT>CCG	p.P182P		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	182	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)															---	---	---	---
OR2M7	391196	broad.mit.edu	37	1	248487102	248487102	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248487102A>C	uc010pzk.1	-	1	769	c.769T>G	c.(769-771)TTC>GTC	p.F257V		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M,	257	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)															---	---	---	---
OR2T4	127074	broad.mit.edu	37	1	248525883	248525883	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248525883A>G	uc001ieh.1	+	1	1001	c.1001A>G	c.(1000-1002)AAG>AGG	p.K334R		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	334	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)															---	---	---	---
OR2T3	343173	broad.mit.edu	37	1	248637137	248637137	+	Missense_Mutation	SNP	G	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248637137G>T	uc001iel.1	+	1	486	c.486G>T	c.(484-486)TTG>TTT	p.L162F		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T,	162	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)															---	---	---	---
APOB	338	broad.mit.edu	37	2	21231570	21231570	+	Missense_Mutation	SNP	G	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21231570G>T	uc002red.2	-	26	8298	c.8170C>A	c.(8170-8172)CCA>ACA	p.P2724T		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2724				Missing (in Ref. 15; AAA51758).	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---
REG3G	130120	broad.mit.edu	37	2	79255063	79255063	+	Intron	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:79255063A>C	uc002snw.2	+						REG3G_uc002snx.2_Intron|REG3G_uc010ffu.2_Intron	NM_198448	NP_940850			regenerating islet-derived 3 gamma precursor						acute-phase response	extracellular region	sugar binding				0																		---	---	---	---
RPIA	22934	broad.mit.edu	37	2	89049502	89049502	+	Silent	SNP	G	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:89049502G>T	uc002ste.2	+	9	884	c.843G>T	c.(841-843)GTG>GTT	p.V281V		NM_144563	NP_653164	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	281					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			ovary(1)	1		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)																---	---	---	---
MGAT4A	11320	broad.mit.edu	37	2	99251709	99251709	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:99251709A>C	uc002sze.2	-	14	1758	c.1444T>G	c.(1444-1446)TTA>GTA	p.L482V	C2orf64_uc002sza.2_Intron|MGAT4A_uc010yvm.1_Missense_Mutation_p.L354V|MGAT4A_uc010fil.2_Missense_Mutation_p.L236V	NM_012214	NP_036346	Q9UM21	MGT4A_HUMAN	alpha-1,3-mannosyl-glycoprotein	482	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			skin(1)	1																		---	---	---	---
MYO7B	4648	broad.mit.edu	37	2	128335741	128335741	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128335741G>A	uc002top.2	+	9	936	c.883G>A	c.(883-885)GCC>ACC	p.A295T		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	295	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)														---	---	---	---
ZEB2	9839	broad.mit.edu	37	2	145156170	145156170	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:145156170A>C	uc002tvu.2	-	8	3064	c.2584T>G	c.(2584-2586)TTG>GTG	p.L862V	ZEB2_uc002tvv.2_Missense_Mutation_p.L856V|ZEB2_uc010zbm.1_Missense_Mutation_p.L833V|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.L891V	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	862						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)														---	---	---	---
RIF1	55183	broad.mit.edu	37	2	152331523	152331523	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152331523A>G	uc002txm.2	+	36	7487	c.7357A>G	c.(7357-7359)AAC>GAC	p.N2453D	RIF1_uc002txl.2_Missense_Mutation_p.N2427D|RIF1_uc002txn.2_Missense_Mutation_p.N2427D|RIF1_uc002txo.2_Missense_Mutation_p.N2427D|RIF1_uc002txp.2_RNA|uc010fnw.1_5'Flank	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	2453	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)														---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166172074	166172074	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166172074T>G	uc002udc.2	+	11	1767	c.1477T>G	c.(1477-1479)TTG>GTG	p.L493V	SCN2A_uc002udd.2_Missense_Mutation_p.L493V|SCN2A_uc002ude.2_Missense_Mutation_p.L493V	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	493					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)													---	---	---	---
SCN9A	6335	broad.mit.edu	37	2	167055189	167055189	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:167055189T>G	uc010fpl.2	-	27	6268	c.5927A>C	c.(5926-5928)AAA>ACA	p.K1976T	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1987						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)													---	---	---	---
TTN	7273	broad.mit.edu	37	2	179426489	179426489	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179426489C>T	uc010zfg.1	-	275	76890	c.76666G>A	c.(76666-76668)GAG>AAG	p.E25556K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E19251K|TTN_uc010zfi.1_Missense_Mutation_p.E19184K|TTN_uc010zfj.1_Missense_Mutation_p.E19059K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26483							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179587167	179587167	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179587167T>G	uc010zfg.1	-	74	18839	c.18615A>C	c.(18613-18615)CAA>CAC	p.Q6205H	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Q2866H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7132							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
SESTD1	91404	broad.mit.edu	37	2	180011150	180011150	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:180011150G>A	uc002uni.3	-	8	766	c.616C>T	c.(616-618)CCT>TCT	p.P206S		NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	206					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)															---	---	---	---
SESTD1	91404	broad.mit.edu	37	2	180011187	180011187	+	Intron	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:180011187G>A	uc002uni.3	-							NM_178123	NP_835224			SEC14 and spectrin domains 1						regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)															---	---	---	---
UBE2E3	10477	broad.mit.edu	37	2	181846772	181846772	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:181846772G>A	uc002unq.1	+	3	222	c.3G>A	c.(1-3)ATG>ATA	p.M1I	UBE2E3_uc002unr.1_Missense_Mutation_p.M1I|UBE2E3_uc010fri.1_Missense_Mutation_p.M1I	NM_182678	NP_872619	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	1					protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity			ovary(1)	1																		---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185802610	185802610	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:185802610A>C	uc002uph.2	+	4	3081	c.2487A>C	c.(2485-2487)AAA>AAC	p.K829N		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	829						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11																		---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196774920	196774920	+	Splice_Site	SNP	C	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:196774920C>G	uc002utj.3	-	25	4037	c.3936_splice	c.e25-1	p.R1312_splice		NM_018897	NP_061720			dynein, axonemal, heavy chain 7						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12																		---	---	---	---
HECW2	57520	broad.mit.edu	37	2	197086947	197086947	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197086947T>G	uc002utm.1	-	24	4317	c.4134A>C	c.(4132-4134)GAA>GAC	p.E1378D	HECW2_uc002utl.1_Missense_Mutation_p.E1022D	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	1378	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18																		---	---	---	---
HSPD1	3329	broad.mit.edu	37	2	198352641	198352641	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:198352641C>T	uc002uui.2	-	11	1647	c.1510G>A	c.(1510-1512)GAT>AAT	p.D504N	HSPD1_uc002uuj.2_Missense_Mutation_p.D502N|HSPD1_uc010zgx.1_Missense_Mutation_p.D495N|HSPD1_uc010fsm.2_Missense_Mutation_p.D315N|HSPD1_uc002uuk.2_Missense_Mutation_p.D504N	NM_002156	NP_002147	P10809	CH60_HUMAN	chaperonin	504					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding				0			Epithelial(96;0.225)															---	---	---	---
PLCL1	5334	broad.mit.edu	37	2	198949915	198949915	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:198949915A>C	uc010fsp.2	+	2	1965	c.1674A>C	c.(1672-1674)GAA>GAC	p.E558D	PLCL1_uc002uuv.3_Missense_Mutation_p.E479D	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	558	Interaction with GABA A beta subunit (By similarity).				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.P558L(1)		ovary(1)|skin(1)	2					Quinacrine(DB01103)													---	---	---	---
ICOS	29851	broad.mit.edu	37	2	204820607	204820607	+	Missense_Mutation	SNP	C	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:204820607C>A	uc002vam.2	+	2	374	c.307C>A	c.(307-309)CAT>AAT	p.H103N	ICOS_uc010zip.1_Missense_Mutation_p.H103N|ICOS_uc010fua.2_Missense_Mutation_p.H103N	NM_012092	NP_036224	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator precursor	103	Ig-like V-type.|Extracellular (Potential).				immune response|T cell costimulation	extracellular region					0																		---	---	---	---
SPAG16	79582	broad.mit.edu	37	2	214972996	214972996	+	Intron	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:214972996T>G	uc002veq.2	+						SPAG16_uc010fuz.1_Intron|SPAG16_uc002ver.2_Intron|SPAG16_uc010zjk.1_Intron	NM_024532	NP_078808			sperm associated antigen 16 isoform 1						cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)														---	---	---	---
CHL1	10752	broad.mit.edu	37	3	423943	423943	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:423943A>C	uc003bou.2	+	16	2181	c.1910A>C	c.(1909-1911)GAC>GCC	p.D637A	CHL1_uc003bot.2_Missense_Mutation_p.D653A|CHL1_uc003bow.1_Missense_Mutation_p.D637A|CHL1_uc011asi.1_Missense_Mutation_p.D653A|uc003box.1_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	637	Fibronectin type-III 1.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)														---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1269539	1269539	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:1269539A>C	uc003boz.2	+	4	487	c.220A>C	c.(220-222)AGT>CGT	p.S74R	CNTN6_uc010hbo.2_Missense_Mutation_p.S69R|CNTN6_uc011asj.1_Missense_Mutation_p.S2R|CNTN6_uc003bpa.2_Missense_Mutation_p.S74R	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	74	Ig-like C2-type 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)														---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1415424	1415424	+	Silent	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:1415424G>A	uc003boz.2	+	15	2190	c.1923G>A	c.(1921-1923)GTG>GTA	p.V641V	CNTN6_uc011asj.1_Silent_p.V569V|CNTN6_uc003bpa.2_Silent_p.V641V	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	641	Fibronectin type-III 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)														---	---	---	---
NR1D2	9975	broad.mit.edu	37	3	24001267	24001267	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:24001267C>T	uc003ccs.2	+	4	797	c.478C>T	c.(478-480)CGC>TGC	p.R160C	NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_Missense_Mutation_p.R85C	NM_005126	NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	160	Nuclear receptor.|NR C4-type.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			urinary_tract(1)|kidney(1)|skin(1)	3																		---	---	---	---
TRANK1	9881	broad.mit.edu	37	3	36874077	36874077	+	Missense_Mutation	SNP	C	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:36874077C>A	uc003cgj.2	-	12	5517	c.5215G>T	c.(5215-5217)GCC>TCC	p.A1739S		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2289					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
TRANK1	9881	broad.mit.edu	37	3	36887808	36887808	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:36887808G>A	uc003cgj.2	-	7	3642	c.3340C>T	c.(3340-3342)CGG>TGG	p.R1114W		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1664					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
EXOG	9941	broad.mit.edu	37	3	38539262	38539262	+	Silent	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38539262G>A	uc003cih.2	+	2	402	c.306G>A	c.(304-306)AAG>AAA	p.K102K	EXOG_uc010hhg.2_Intron|EXOG_uc011ayq.1_Intron|EXOG_uc003cij.2_5'UTR|EXOG_uc010hhd.2_Intron|EXOG_uc010hhe.2_Intron|EXOG_uc003cik.2_5'UTR|EXOG_uc010hhf.2_5'UTR|EXOG_uc003cii.2_Intron	NM_005107	NP_005098	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	102						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding				0																		---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38592796	38592796	+	Silent	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38592796G>A	uc003cio.2	-	28	5261	c.5067C>T	c.(5065-5067)GAC>GAT	p.D1689D	SCN5A_uc003cin.2_Silent_p.D1688D|SCN5A_uc003cil.3_Silent_p.D1689D|SCN5A_uc010hhi.2_Silent_p.D1671D|SCN5A_uc010hhk.2_Silent_p.D1656D|SCN5A_uc011ayr.1_Silent_p.D1635D	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1689					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)													---	---	---	---
SCN11A	11280	broad.mit.edu	37	3	38938681	38938681	+	Silent	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38938681A>C	uc011ays.1	-	14	2257	c.2058T>G	c.(2056-2058)ACT>ACG	p.T686T	SCN11A_uc010hhn.1_5'Flank	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	686	Helical; Voltage-sensor; Name=S4 of repeat II; (By similarity).|II.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)													---	---	---	---
TTC21A	199223	broad.mit.edu	37	3	39162481	39162481	+	Intron	SNP	C	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39162481C>G	uc003cjc.2	+						TTC21A_uc003cje.2_Intron|TTC21A_uc003cjd.2_Intron|TTC21A_uc011ayx.1_Intron	NM_145755	NP_665698			tetratricopeptide repeat domain 21A isoform 2								binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)														---	---	---	---
TTC21A	199223	broad.mit.edu	37	3	39162529	39162529	+	Silent	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39162529C>T	uc003cjc.2	+	9	1143	c.966C>T	c.(964-966)TTC>TTT	p.F322F	TTC21A_uc003cje.2_Silent_p.F322F|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Silent_p.F273F	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	322							binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)														---	---	---	---
TTC21A	199223	broad.mit.edu	37	3	39162565	39162565	+	Silent	SNP	C	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39162565C>G	uc003cjc.2	+	9	1179	c.1002C>G	c.(1000-1002)GTC>GTG	p.V334V	TTC21A_uc003cje.2_Silent_p.V334V|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Silent_p.V285V	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	334	TPR 6.						binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)														---	---	---	---
TTC21A	199223	broad.mit.edu	37	3	39162590	39162590	+	Missense_Mutation	SNP	C	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39162590C>G	uc003cjc.2	+	9	1204	c.1027C>G	c.(1027-1029)CTC>GTC	p.L343V	TTC21A_uc003cje.2_Missense_Mutation_p.L343V|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.L294V	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	343	TPR 6.						binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)														---	---	---	---
WDR6	11180	broad.mit.edu	37	3	49052400	49052400	+	Silent	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49052400G>A	uc003cvj.2	+	6	3273	c.3135G>A	c.(3133-3135)GAG>GAA	p.E1045E	WDR6_uc011bby.1_Silent_p.E493E|WDR6_uc010hkn.2_Silent_p.E989E|WDR6_uc011bbz.1_Silent_p.E964E	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	1015	WD 15.				cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)														---	---	---	---
WDR6	11180	broad.mit.edu	37	3	49052464	49052464	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49052464G>T	uc003cvj.2	+	6	3337	c.3199G>T	c.(3199-3201)GAA>TAA	p.E1067*	WDR6_uc011bby.1_Nonsense_Mutation_p.E515*|WDR6_uc010hkn.2_Nonsense_Mutation_p.E1011*|WDR6_uc011bbz.1_Nonsense_Mutation_p.E986*|DALRD3_uc003cvk.1_3'UTR|DALRD3_uc003cvl.1_3'UTR|DALRD3_uc003cvm.1_3'UTR|DALRD3_uc010hko.1_3'UTR	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	1037					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)														---	---	---	---
CACNA2D3	55799	broad.mit.edu	37	3	54603875	54603875	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:54603875C>T	uc003dhf.2	+	7	778	c.730C>T	c.(730-732)CGA>TGA	p.R244*	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Nonsense_Mutation_p.R150*|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_5'UTR	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	244	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)														---	---	---	---
TMF1	7110	broad.mit.edu	37	3	69075185	69075185	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:69075185C>T	uc003dnn.2	-	14	3068	c.2821G>A	c.(2821-2823)GTT>ATT	p.V941I	TMF1_uc011bfx.1_Missense_Mutation_p.V944I	NM_007114	NP_009045	P82094	TMF1_HUMAN	TATA element modulatory factor 1	941					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity				0		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)														---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89462402	89462402	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:89462402A>C	uc003dqy.2	+	10	2099	c.1874A>C	c.(1873-1875)AAA>ACA	p.K625T	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	625	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)											TSP Lung(6;0.00050)			---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	97202873	97202873	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97202873A>G	uc010how.1	+	10	2213	c.2170A>G	c.(2170-2172)AGA>GGA	p.R724G	EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_Missense_Mutation_p.R90G|EPHA6_uc003drs.3_Missense_Mutation_p.R116G|EPHA6_uc003drr.3_Missense_Mutation_p.R116G|EPHA6_uc003drt.2_Missense_Mutation_p.R116G|EPHA6_uc010hox.1_RNA	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	629	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16																		---	---	---	---
TRAT1	50852	broad.mit.edu	37	3	108572596	108572596	+	Missense_Mutation	SNP	G	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108572596G>T	uc003dxi.1	+	6	577	c.433G>T	c.(433-435)GCC>TCC	p.A145S	TRAT1_uc010hpx.1_Missense_Mutation_p.A108S	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	T-cell receptor interacting molecule	145	Cytoplasmic (Potential).				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			skin(1)	1																		---	---	---	---
EAF2	55840	broad.mit.edu	37	3	121591406	121591406	+	Silent	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121591406A>C	uc003een.2	+	5	606	c.507A>C	c.(505-507)CTA>CTC	p.L169L	EAF2_uc003eeo.2_Silent_p.L39L	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	169					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding				0				GBM - Glioblastoma multiforme(114;0.0972)														---	---	---	---
MCM2	4171	broad.mit.edu	37	3	127339719	127339719	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:127339719G>A	uc003ejp.2	+	14	2501	c.2444G>A	c.(2443-2445)CGC>CAC	p.R815H	MCM2_uc011bkm.1_Missense_Mutation_p.R685H|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.R768H	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	815					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4																		---	---	---	---
SKIL	6498	broad.mit.edu	37	3	170078371	170078371	+	Silent	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:170078371C>T	uc003fgu.2	+	2	964	c.252C>T	c.(250-252)CCC>CCT	p.P84P	SKIL_uc011bps.1_Silent_p.P64P|SKIL_uc003fgv.2_Silent_p.P84P|SKIL_uc003fgw.2_Silent_p.P84P	NM_005414	NP_005405	P12757	SKIL_HUMAN	SKI-like isoform 1	84					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			ovary(2)|skin(1)	3	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)															---	---	---	---
NAALADL2	254827	broad.mit.edu	37	3	174814787	174814787	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:174814787T>G	uc003fit.2	+	2	338	c.251T>G	c.(250-252)CTT>CGT	p.L84R	NAALADL2_uc003fiu.1_Missense_Mutation_p.L77R	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	84	Cytoplasmic (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)														---	---	---	---
KCNMB3	27094	broad.mit.edu	37	3	178962370	178962370	+	Silent	SNP	C	T	T	rs139532669	byFrequency;by1000genomes	TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:178962370C>T	uc003fjm.2	-	3	884	c.372G>A	c.(370-372)CCG>CCA	p.P124P	KCNMB3_uc003fjl.3_RNA|KCNMB3_uc011bqc.1_Silent_p.P122P|KCNMB3_uc003fjn.2_Silent_p.P120P|KCNMB3_uc003fjo.2_Silent_p.P102P|KCNMB3_uc003fjp.1_Silent_p.P122P	NM_014407	NP_055222	Q9NPA1	KCMB3_HUMAN	calcium-activated potassium channel beta 3	124	Extracellular (Potential).				detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity				0	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)															---	---	---	---
MASP1	5648	broad.mit.edu	37	3	186954073	186954073	+	Intron	SNP	G	A	A	rs142630054		TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186954073G>A	uc003frh.1	-						MASP1_uc003fri.2_Missense_Mutation_p.S529L|MASP1_uc003frj.2_Missense_Mutation_p.S498L	NM_001879	NP_001870			mannan-binding lectin serine protease 1 isoform						complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|breast(1)|liver(1)	4	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)														---	---	---	---
FAM193A	8603	broad.mit.edu	37	4	2695327	2695327	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:2695327G>A	uc010icl.2	+	14	2296	c.1945G>A	c.(1945-1947)GGC>AGC	p.G649S	FAM193A_uc010ick.2_Missense_Mutation_p.G849S|FAM193A_uc003gfd.2_Missense_Mutation_p.G649S|FAM193A_uc011bvm.1_Missense_Mutation_p.G671S|FAM193A_uc011bvn.1_Missense_Mutation_p.G649S|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.G503S	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	649										ovary(3)	3																		---	---	---	---
JAKMIP1	152789	broad.mit.edu	37	4	6107340	6107340	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6107340G>A	uc003giu.3	-	3	760	c.484C>T	c.(484-486)CGC>TGC	p.R162C	JAKMIP1_uc010idb.1_Missense_Mutation_p.R162C|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.R162C|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.R162C|JAKMIP1_uc010ide.2_Missense_Mutation_p.R162C	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	162	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4																		---	---	---	---
ZNF518B	85460	broad.mit.edu	37	4	10445604	10445604	+	Silent	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:10445604G>A	uc003gmn.2	-	3	2836	c.2349C>T	c.(2347-2349)TCC>TCT	p.S783S		NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	783					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4																		---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20258306	20258306	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20258306G>A	uc003gpr.1	+	2	395	c.191G>A	c.(190-192)GGA>GAA	p.G64E	SLIT2_uc003gps.1_Missense_Mutation_p.G64E	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	64	LRR 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11																		---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20525501	20525501	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20525501T>G	uc003gpr.1	+	13	1453	c.1249T>G	c.(1249-1251)TCA>GCA	p.S417A	SLIT2_uc003gps.1_Missense_Mutation_p.S417A	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	417	LRR 11.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11																		---	---	---	---
CORIN	10699	broad.mit.edu	37	4	47647108	47647108	+	Silent	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47647108C>T	uc003gxm.2	-	14	2040	c.1947G>A	c.(1945-1947)GAG>GAA	p.E649E	CORIN_uc011bzf.1_Silent_p.E510E|CORIN_uc011bzg.1_Silent_p.E582E|CORIN_uc011bzh.1_Silent_p.E612E	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	649	Extracellular (Potential).|LDL-receptor class A 6.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
CORIN	10699	broad.mit.edu	37	4	47647114	47647114	+	Missense_Mutation	SNP	C	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47647114C>A	uc003gxm.2	-	14	2034	c.1941G>T	c.(1939-1941)ATG>ATT	p.M647I	CORIN_uc011bzf.1_Missense_Mutation_p.M508I|CORIN_uc011bzg.1_Missense_Mutation_p.M580I|CORIN_uc011bzh.1_Missense_Mutation_p.M610I	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	647	Extracellular (Potential).|LDL-receptor class A 6.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
ADAMTS3	9508	broad.mit.edu	37	4	73186470	73186470	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:73186470A>C	uc003hgk.1	-	7	1100	c.1063T>G	c.(1063-1065)TTT>GTT	p.F355V		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	355	Peptidase M12B.				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)															---	---	---	---
PTPN13	5783	broad.mit.edu	37	4	87685813	87685813	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:87685813A>C	uc003hpz.2	+	25	4565	c.4085A>C	c.(4084-4086)AAG>ACG	p.K1362T	PTPN13_uc003hpy.2_Missense_Mutation_p.K1362T|PTPN13_uc003hqa.2_Missense_Mutation_p.K1343T|PTPN13_uc003hqb.2_Missense_Mutation_p.K1171T	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1362				KP -> RS (in Ref. 5; CAA56124).		cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)														---	---	---	---
ANK2	287	broad.mit.edu	37	4	114176918	114176918	+	Missense_Mutation	SNP	G	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:114176918G>T	uc003ibe.3	+	11	1118	c.1018G>T	c.(1018-1020)GCC>TCC	p.A340S	ANK2_uc003ibd.3_Missense_Mutation_p.A319S|ANK2_uc003ibf.3_Missense_Mutation_p.A340S|ANK2_uc003ibc.2_Missense_Mutation_p.A316S|ANK2_uc011cgb.1_Missense_Mutation_p.A355S	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	340	ANK 10.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)														---	---	---	---
CCNA2	890	broad.mit.edu	37	4	122739317	122739317	+	Missense_Mutation	SNP	G	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:122739317G>C	uc003iec.3	-	7	1437	c.1132C>G	c.(1132-1134)CGA>GGA	p.R378G		NM_001237	NP_001228	P20248	CCNA2_HUMAN	cyclin A	378					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			ovary(1)	1																		---	---	---	---
BBS7	55212	broad.mit.edu	37	4	122774116	122774116	+	Missense_Mutation	SNP	C	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:122774116C>G	uc003ied.2	-	8	1018	c.844G>C	c.(844-846)GAT>CAT	p.D282H	BBS7_uc003iee.1_Missense_Mutation_p.D282H	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7 protein isoform a	282					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			ovary(1)	1														Bardet-Biedl_syndrome				---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123161001	123161001	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123161001G>A	uc003ieh.2	+	27	4209	c.4164G>A	c.(4162-4164)ATG>ATA	p.M1388I	KIAA1109_uc003iei.1_Missense_Mutation_p.M1141I|KIAA1109_uc010ins.1_Missense_Mutation_p.M731I|KIAA1109_uc003iek.2_Missense_Mutation_p.M7I	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1388					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
PCDH18	54510	broad.mit.edu	37	4	138451176	138451176	+	Silent	SNP	A	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:138451176A>G	uc003ihe.3	-	1	2454	c.2067T>C	c.(2065-2067)ACT>ACC	p.T689T	PCDH18_uc003ihf.3_Silent_p.T682T|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Silent_p.T469T|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	689	Extracellular (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)																	---	---	---	---
GUCY1A3	2982	broad.mit.edu	37	4	156632253	156632253	+	Silent	SNP	A	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:156632253A>G	uc003iov.2	+	7	1472	c.936A>G	c.(934-936)AGA>AGG	p.R312R	GUCY1A3_uc003iou.2_Silent_p.R312R|GUCY1A3_uc010iqc.2_Silent_p.R312R|GUCY1A3_uc003iow.2_Silent_p.R312R|GUCY1A3_uc010iqd.2_Silent_p.R311R|GUCY1A3_uc003iox.2_Silent_p.R312R|GUCY1A3_uc003ioz.2_Silent_p.R77R|GUCY1A3_uc003ioy.2_Silent_p.R312R|GUCY1A3_uc010iqe.2_Silent_p.R77R|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Silent_p.R312R	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	312					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)														---	---	---	---
FSTL5	56884	broad.mit.edu	37	4	162697220	162697220	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:162697220T>C	uc003iqh.2	-	5	852	c.416A>G	c.(415-417)AAG>AGG	p.K139R	FSTL5_uc003iqi.2_Missense_Mutation_p.K138R|FSTL5_uc010iqv.2_Missense_Mutation_p.K138R	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	139						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)														---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19721530	19721530	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:19721530G>A	uc003jgc.2	-	4	946	c.569C>T	c.(568-570)ACC>ATC	p.T190I	CDH18_uc003jgd.2_Missense_Mutation_p.T190I|CDH18_uc011cnm.1_Missense_Mutation_p.T190I	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	190	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)																	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24498534	24498534	+	Silent	SNP	A	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:24498534A>G	uc003jgr.1	-	9	1820	c.1488T>C	c.(1486-1488)TTT>TTC	p.F496F	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	496	Cadherin 5.|Extracellular (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)											HNSCC(23;0.051)			---	---	---	---
SPEF2	79925	broad.mit.edu	37	5	35704684	35704684	+	Silent	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:35704684C>T	uc003jjo.2	+	17	2538	c.2427C>T	c.(2425-2427)CAC>CAT	p.H809H	SPEF2_uc003jjq.3_Silent_p.H804H|SPEF2_uc003jjp.1_Silent_p.H295H	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	809					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---
RANBP3L	202151	broad.mit.edu	37	5	36249771	36249771	+	Silent	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:36249771C>T	uc003jkh.2	-	14	1876	c.1383G>A	c.(1381-1383)TCG>TCA	p.S461S	RANBP3L_uc011cow.1_Silent_p.S486S	NM_145000	NP_659437	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like isoform 2	461					intracellular transport					ovary(1)	1	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)															---	---	---	---
EGFLAM	133584	broad.mit.edu	37	5	38370543	38370543	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38370543A>G	uc003jlc.1	+	6	1015	c.691A>G	c.(691-693)AGT>GGT	p.S231G	EGFLAM_uc003jlb.1_Missense_Mutation_p.S231G	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	231	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)																	---	---	---	---
MRPS30	10884	broad.mit.edu	37	5	44813250	44813250	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:44813250T>G	uc003joh.2	+	4	934	c.896T>G	c.(895-897)TTT>TGT	p.F299C		NM_016640	NP_057724	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	299					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome				0	Lung NSC(6;8.08e-07)																	---	---	---	---
RASA1	5921	broad.mit.edu	37	5	86629108	86629108	+	Nonsense_Mutation	SNP	C	T	T	rs137853218		TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:86629108C>T	uc003kiw.2	+	4	971	c.853C>T	c.(853-855)CGA>TGA	p.R285*	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Nonsense_Mutation_p.R108*|RASA1_uc011ctv.1_Nonsense_Mutation_p.R118*|RASA1_uc011ctw.1_Nonsense_Mutation_p.R119*|RASA1_uc010jaw.2_Nonsense_Mutation_p.R108*	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	285	SH3.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)														---	---	---	---
ST8SIA4	7903	broad.mit.edu	37	5	100192067	100192067	+	Silent	SNP	T	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:100192067T>A	uc003knk.2	-	4	865	c.537A>T	c.(535-537)GCA>GCT	p.A179A		NM_005668	NP_005659	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide	179	Lumenal (Potential).				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			large_intestine(1)|central_nervous_system(1)	2		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)														---	---	---	---
SPOCK1	6695	broad.mit.edu	37	5	136324212	136324212	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:136324212T>G	uc003lbo.2	-	7	1018	c.827A>C	c.(826-828)AAG>ACG	p.K276T	SPOCK1_uc003lbp.2_Missense_Mutation_p.K276T	NM_004598	NP_004589	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	276					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140590324	140590324	+	Silent	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140590324C>T	uc003liz.2	+	1	2034	c.1845C>T	c.(1843-1845)TTC>TTT	p.F615F	PCDHB12_uc011dak.1_Silent_p.F278F	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	615	Extracellular (Potential).|Cadherin 6.				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)															---	---	---	---
SLC36A2	153201	broad.mit.edu	37	5	150718714	150718714	+	Intron	SNP	G	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150718714G>C	uc003lty.2	-						GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_Intron|SLC36A2_uc003lua.2_Intron|SLC36A2_uc010jhv.2_Intron|SLC36A2_uc011dct.1_Intron	NM_181776	NP_861441			solute carrier family 36, member 2						cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
BNIP1	662	broad.mit.edu	37	5	172590860	172590860	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:172590860C>T	uc003mcj.3	+	6	727	c.623C>T	c.(622-624)GCG>GTG	p.A208V	BNIP1_uc003mci.3_Missense_Mutation_p.A251V|BNIP1_uc003mck.3_Missense_Mutation_p.A217V|BNIP1_uc003mcl.3_Missense_Mutation_p.A174V	NM_001205	NP_001196	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kD interacting protein 1	208	Helical; Anchor for type IV membrane protein; (Potential).				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)															---	---	---	---
HIST1H2BL	8340	broad.mit.edu	37	6	27775400	27775400	+	Missense_Mutation	SNP	G	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:27775400G>C	uc003njl.2	-	1	310	c.285C>G	c.(283-285)ATC>ATG	p.I95M	HIST1H3H_uc003njm.2_5'Flank	NM_003519	NP_003510	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	95					nucleosome assembly	nucleosome|nucleus	DNA binding				0																		---	---	---	---
HIST1H3I	8354	broad.mit.edu	37	6	27840105	27840105	+	5'Flank	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:27840105C>T	uc003njy.2	-							NM_003533	NP_003524			histone cluster 1, H3i						blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1																		---	---	---	---
NKAPL	222698	broad.mit.edu	37	6	28227548	28227548	+	Silent	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28227548G>A	uc003nkt.2	+	1	451	c.399G>A	c.(397-399)GCG>GCA	p.A133A	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	133										upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	G	G	rs41559716		TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29910693A>G	uc003nol.2	+	2	233	c.233A>G	c.(232-234)CAG>CGG	p.Q78R	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Missense_Mutation_p.Q78R|HLA-A_uc003noo.2_Missense_Mutation_p.Q78R|HLA-A_uc010jrr.2_Missense_Mutation_p.Q78R|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Missense_Mutation_p.Q50R|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2														Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)			---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46659618	46659618	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46659618T>G	uc003oyj.2	+	1	3753	c.3753T>G	c.(3751-3753)TTT>TTG	p.F1251L	TDRD6_uc010jze.2_Missense_Mutation_p.F1245L	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1251					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)															---	---	---	---
TFAP2D	83741	broad.mit.edu	37	6	50682950	50682950	+	Missense_Mutation	SNP	A	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:50682950A>T	uc003paf.2	+	2	673	c.161A>T	c.(160-162)GAG>GTG	p.E54V	TFAP2D_uc011dwt.1_RNA	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	54							DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)																	---	---	---	---
GSTA1	2938	broad.mit.edu	37	6	52661050	52661050	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:52661050T>C	uc003paz.2	-	4	314	c.202A>G	c.(202-204)ACC>GCC	p.T68A		NM_145740	NP_665683	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	68	Glutathione binding.|GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)													---	---	---	---
BAI3	577	broad.mit.edu	37	6	69653787	69653787	+	Silent	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:69653787A>C	uc003pev.3	+	6	1544	c.1096A>C	c.(1096-1098)AGA>CGA	p.R366R	BAI3_uc010kak.2_Silent_p.R366R	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	366	Extracellular (Potential).|TSP type-1 2.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)																---	---	---	---
KCNQ5	56479	broad.mit.edu	37	6	73830234	73830234	+	Missense_Mutation	SNP	A	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:73830234A>T	uc003pgk.2	+	8	1501	c.1154A>T	c.(1153-1155)GAG>GTG	p.E385V	KCNQ5_uc003pgj.3_Missense_Mutation_p.E385V|KCNQ5_uc011dyh.1_Missense_Mutation_p.E385V|KCNQ5_uc011dyi.1_Missense_Mutation_p.E385V|KCNQ5_uc010kat.2_Missense_Mutation_p.E385V|KCNQ5_uc011dyj.1_Missense_Mutation_p.E385V|KCNQ5_uc011dyk.1_Missense_Mutation_p.E144V	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	385					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)														---	---	---	---
KCNQ5	56479	broad.mit.edu	37	6	73900325	73900325	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:73900325A>G	uc003pgk.2	+	12	1954	c.1607A>G	c.(1606-1608)AAG>AGG	p.K536R	KCNQ5_uc011dyh.1_Missense_Mutation_p.K555R|KCNQ5_uc011dyi.1_Missense_Mutation_p.K546R|KCNQ5_uc010kat.2_Missense_Mutation_p.K527R|KCNQ5_uc011dyj.1_Missense_Mutation_p.K426R|KCNQ5_uc011dyk.1_Missense_Mutation_p.K286R	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	536					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)														---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75865381	75865381	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:75865381A>C	uc003phs.2	-	16	3606	c.3440T>G	c.(3439-3441)CTT>CGT	p.L1147R	COL12A1_uc003pht.2_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1147	Fibronectin type-III 8.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9																		---	---	---	---
FYN	2534	broad.mit.edu	37	6	112035656	112035656	+	Intron	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:112035656C>T	uc003pvj.2	-						FYN_uc003pvi.2_Intron|FYN_uc003pvk.2_Intron|FYN_uc003pvh.2_Intron	NM_002037	NP_002028			protein-tyrosine kinase fyn isoform a						axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|central_nervous_system(1)|skin(1)	7		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)													---	---	---	---
PARK2	5071	broad.mit.edu	37	6	162206827	162206827	+	Missense_Mutation	SNP	A	C	C	rs56154308		TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:162206827A>C	uc003qtx.3	-	7	982	c.848T>G	c.(847-849)CTT>CGT	p.L283R	PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Missense_Mutation_p.L92R|PARK2_uc003qtw.3_Missense_Mutation_p.L92R|PARK2_uc003qty.3_Missense_Mutation_p.L255R|PARK2_uc003qtz.3_Missense_Mutation_p.L134R|PARK2_uc010kke.1_Missense_Mutation_p.L283R|PARK2_uc011egf.1_5'UTR	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1	283	SYT11 binding 2.|RING-type 1; atypical.				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)														---	---	---	---
SDK1	221935	broad.mit.edu	37	7	4008964	4008964	+	Missense_Mutation	SNP	C	T	T	rs146705640	by1000genomes	TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4008964C>T	uc003smx.2	+	11	1761	c.1622C>T	c.(1621-1623)GCG>GTG	p.A541V		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	541	Ig-like C2-type 5.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)														---	---	---	---
ETV1	2115	broad.mit.edu	37	7	13971158	13971158	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:13971158T>G	uc011jxq.1	-	9	1510	c.771A>C	c.(769-771)AAA>AAC	p.K257N	ETV1_uc011jxn.1_Missense_Mutation_p.K217N|ETV1_uc011jxo.1_Missense_Mutation_p.K154N|ETV1_uc011jxp.1_Missense_Mutation_p.K199N|ETV1_uc003ssw.3_Missense_Mutation_p.K257N|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.K239N|ETV1_uc011jxs.1_Missense_Mutation_p.K239N|ETV1_uc010ktv.2_Missense_Mutation_p.K126N	NM_004956	NP_004947	P50549	ETV1_HUMAN	ets variant gene 1 isoform a	257					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35								T	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3	Ewing sarcoma|prostate								---	---	---	---
PLEKHA8	84725	broad.mit.edu	37	7	30092397	30092397	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30092397G>A	uc003tam.1	+	7	802	c.711G>A	c.(709-711)ATG>ATA	p.M237I	PLEKHA8_uc003tao.2_Missense_Mutation_p.M121I|PLEKHA8_uc003tap.1_Missense_Mutation_p.M237I|PLEKHA8_uc003tan.2_Missense_Mutation_p.M237I	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A	237					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(3)|ovary(1)	4																		---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48411843	48411843	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48411843A>C	uc003toq.2	+	33	10907	c.10882A>C	c.(10882-10884)AGC>CGC	p.S3628R	ABCA13_uc010kys.1_Missense_Mutation_p.S702R|ABCA13_uc003tos.1_Missense_Mutation_p.S454R	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3628					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---
CHCHD2	51142	broad.mit.edu	37	7	56171922	56171922	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:56171922G>T	uc003tsa.2	-	2	378	c.297C>A	c.(295-297)TAC>TAA	p.Y99*	PSPH_uc003trj.2_Intron	NM_016139	NP_057223	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain	99						mitochondrion					0	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)															---	---	---	---
AUTS2	26053	broad.mit.edu	37	7	69064894	69064894	+	Missense_Mutation	SNP	G	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:69064894G>C	uc003tvw.3	+	1	998	c.255G>C	c.(253-255)GAG>GAC	p.E85D	AUTS2_uc003tvv.3_Missense_Mutation_p.E85D|AUTS2_uc003tvx.3_Missense_Mutation_p.E85D	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	85										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)														---	---	---	---
SPDYE5	442590	broad.mit.edu	37	7	75130983	75130983	+	Missense_Mutation	SNP	G	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:75130983G>C	uc011kfy.1	+	6	994	c.858G>C	c.(856-858)AAG>AAC	p.K286N		NM_001099435	NP_001092905	A6NIY4	SPDE5_HUMAN	speedy homolog E5	286	Arg-rich.										0																		---	---	---	---
POMZP3	22932	broad.mit.edu	37	7	76247621	76247621	+	Intron	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:76247621G>A	uc003uft.2	-						uc003ufs.1_Intron|POMZP3_uc003ufu.2_Intron|POMZP3_uc003ufv.2_Intron|POMZP3_uc011kgm.1_Intron	NM_012230	NP_036362			POMZP3 fusion protein isoform 1												0		Myeloproliferative disorder(862;0.204)																---	---	---	---
CACNA2D1	781	broad.mit.edu	37	7	81746366	81746366	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:81746366C>T	uc003uhr.1	-	6	776	c.520G>A	c.(520-522)GAG>AAG	p.E174K		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	174	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)													---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82544696	82544696	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:82544696T>G	uc003uhx.2	-	7	12895	c.12606A>C	c.(12604-12606)AAA>AAC	p.K4202N	PCLO_uc003uhv.2_Missense_Mutation_p.K4202N|PCLO_uc010lec.2_Missense_Mutation_p.K1167N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4133					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7																		---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88964949	88964949	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:88964949A>G	uc011khi.1	+	4	3191	c.2653A>G	c.(2653-2655)AAA>GAA	p.K885E		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	885						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)												HNSCC(36;0.09)			---	---	---	---
CYP3A43	64816	broad.mit.edu	37	7	99459298	99459298	+	Silent	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99459298G>A	uc003urx.1	+	11	1192	c.1089G>A	c.(1087-1089)ACG>ACA	p.T363T	CYP3A43_uc003ury.1_Silent_p.T363T|CYP3A43_uc003urz.1_Silent_p.T363T|CYP3A43_uc003usa.1_RNA|CYP3A43_uc010lgi.1_Silent_p.T253T|CYP3A43_uc003usb.1_Silent_p.T223T	NM_057095	NP_476436	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A,	363			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)													---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113518863	113518863	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:113518863T>G	uc010ljy.1	-	4	2315	c.2284A>C	c.(2284-2286)AGT>CGT	p.S762R		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	762					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34																		---	---	---	---
C7orf58	79974	broad.mit.edu	37	7	120876821	120876821	+	Silent	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:120876821T>G	uc003vjq.3	+	17	2556	c.2109T>G	c.(2107-2109)TCT>TCG	p.S703S	C7orf58_uc003vjs.3_Silent_p.S703S|C7orf58_uc003vjt.3_Silent_p.S483S	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	703						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)																	---	---	---	---
CHRM2	1129	broad.mit.edu	37	7	136700337	136700337	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:136700337A>G	uc003vtf.1	+	4	1348	c.725A>G	c.(724-726)AAG>AGG	p.K242R	CHRM2_uc003vtg.1_Missense_Mutation_p.K242R|CHRM2_uc003vtj.1_Missense_Mutation_p.K242R|CHRM2_uc003vtk.1_Missense_Mutation_p.K242R|CHRM2_uc003vtl.1_Missense_Mutation_p.K242R|CHRM2_uc003vtm.1_Missense_Mutation_p.K242R|CHRM2_uc003vti.1_Missense_Mutation_p.K242R|CHRM2_uc003vto.1_Missense_Mutation_p.K242R|CHRM2_uc003vtn.1_Missense_Mutation_p.K242R|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	242	Cytoplasmic (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)													---	---	---	---
OR6B1	135946	broad.mit.edu	37	7	143701562	143701562	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143701562C>T	uc003wdt.1	+	1	473	c.473C>T	c.(472-474)GCG>GTG	p.A158V		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B,	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.0783)																	---	---	---	---
ZNF398	57541	broad.mit.edu	37	7	148876198	148876198	+	Silent	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148876198A>C	uc003wfl.2	+	6	1509	c.1234A>C	c.(1234-1236)AGA>CGA	p.R412R	ZNF398_uc011kul.1_Silent_p.R241R|ZNF398_uc011kum.1_Silent_p.R417R	NM_170686	NP_733787	Q8TD17	ZN398_HUMAN	zinc finger 398 isoform a	412	C2H2-type 3.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)															---	---	---	---
RHEB	6009	broad.mit.edu	37	7	151181842	151181842	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151181842A>C	uc003wkh.1	-	3	586	c.173T>G	c.(172-174)CTT>CGT	p.L58R		NM_005614	NP_005605	Q15382	RHEB_HUMAN	Ras homolog enriched in brain precursor	58					cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|metal ion binding|protein binding			large_intestine(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)														---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2807839	2807839	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:2807839A>C	uc011kwk.1	-	67	10621	c.10231T>G	c.(10231-10233)TTA>GTA	p.L3411V	CSMD1_uc011kwj.1_Missense_Mutation_p.L2725V|CSMD1_uc010lrg.2_Missense_Mutation_p.L1302V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3411	Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---
SH2D4A	63898	broad.mit.edu	37	8	19218776	19218776	+	Silent	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:19218776G>A	uc003wzb.2	+	6	993	c.657G>A	c.(655-657)ACG>ACA	p.T219T	SH2D4A_uc011kym.1_Silent_p.T174T|SH2D4A_uc003wzc.2_Silent_p.T219T	NM_022071	NP_071354	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	219						cytoplasm|nucleus	protein binding				0				Colorectal(111;0.0732)														---	---	---	---
CHRNA6	8973	broad.mit.edu	37	8	42620260	42620260	+	Missense_Mutation	SNP	G	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42620260G>C	uc003xpj.2	-	2	213	c.167C>G	c.(166-168)TCC>TGC	p.S56C	CHRNA6_uc011lcw.1_Missense_Mutation_p.S56C	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6	56	Extracellular.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)															---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52321285	52321285	+	Missense_Mutation	SNP	G	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:52321285G>C	uc003xqu.3	-	17	3000	c.2899C>G	c.(2899-2901)CTG>GTG	p.L967V	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	967					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)																---	---	---	---
PREX2	80243	broad.mit.edu	37	8	68972908	68972908	+	Intron	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68972908T>G	uc003xxv.1	+						PREX2_uc003xxu.1_Intron|PREX2_uc011lez.1_Intron	NM_024870	NP_079146			DEP domain containing 2 isoform a						G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---
PREX2	80243	broad.mit.edu	37	8	68981264	68981264	+	Intron	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68981264T>G	uc003xxv.1	+						PREX2_uc003xxu.1_Intron|PREX2_uc011lez.1_Intron	NM_024870	NP_079146			DEP domain containing 2 isoform a						G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---
PREX2	80243	broad.mit.edu	37	8	69046292	69046292	+	Splice_Site	SNP	A	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:69046292A>T	uc003xxv.1	+	32	3794	c.3767_splice	c.e32-2	p.D1256_splice		NM_024870	NP_079146			DEP domain containing 2 isoform a						G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---
PREX2	80243	broad.mit.edu	37	8	69069558	69069558	+	Silent	SNP	A	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:69069558A>T	uc003xxv.1	+	35	4260	c.4233A>T	c.(4231-4233)GCA>GCT	p.A1411A		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1411					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---
SLCO5A1	81796	broad.mit.edu	37	8	70744764	70744764	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:70744764T>C	uc003xyl.2	-	2	852	c.145A>G	c.(145-147)AGC>GGC	p.S49G	SLCO5A1_uc010lzb.2_Missense_Mutation_p.S49G|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.S49G|SLCO5A1_uc010lzc.2_Missense_Mutation_p.S49G	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	49	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)													OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77620259	77620259	+	Missense_Mutation	SNP	C	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:77620259C>G	uc003yav.2	+	3	3378	c.2991C>G	c.(2989-2991)CAC>CAG	p.H997Q	ZFHX4_uc003yat.1_Missense_Mutation_p.H997Q|ZFHX4_uc003yau.1_Missense_Mutation_p.H1023Q|ZFHX4_uc003yaw.1_Missense_Mutation_p.H997Q	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	997						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)												HNSCC(33;0.089)			---	---	---	---
NECAB1	64168	broad.mit.edu	37	8	91962116	91962116	+	Intron	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:91962116A>C	uc011lgg.1	+						NECAB1_uc003yer.2_Intron	NM_022351	NP_071746			N-terminal EF-hand calcium binding protein 1						antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			central_nervous_system(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.0499)															---	---	---	---
KCNQ3	3786	broad.mit.edu	37	8	133150175	133150175	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133150175C>T	uc003ytj.2	-	12	1882	c.1657G>A	c.(1657-1659)GGG>AGG	p.G553R	KCNQ3_uc010mdt.2_Missense_Mutation_p.G553R	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	553					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)															---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8500770	8500770	+	Silent	SNP	A	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:8500770A>G	uc003zkk.2	-	23	2823	c.2112T>C	c.(2110-2112)ATT>ATC	p.I704I	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Silent_p.I704I|PTPRD_uc003zkm.2_Silent_p.I691I|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	704	Fibronectin type-III 4.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)											TSP Lung(15;0.13)			---	---	---	---
IFNA17	3451	broad.mit.edu	37	9	21227998	21227998	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:21227998A>G	uc003zos.1	-	1	224	c.175T>C	c.(175-177)TTT>CTT	p.F59L	IFNA14_uc003zoo.1_Intron	NM_021268	NP_067091	P01571	IFN17_HUMAN	interferon, alpha 17 precursor	59					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding				0				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)														---	---	---	---
CCDC107	203260	broad.mit.edu	37	9	35661081	35661081	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35661081G>A	uc011lox.1	+	5	815	c.749G>A	c.(748-750)CGG>CAG	p.R250Q	CCDC107_uc011loy.1_Missense_Mutation_p.R223Q|CCDC107_uc003zxj.2_3'UTR|CCDC107_uc003zxk.2_3'UTR|C9orf100_uc003zxl.2_Intron|C9orf100_uc003zxm.1_3'UTR	NM_174923	NP_777583	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107 precursor	250						integral to membrane					0	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	118949522	118949522	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:118949522C>T	uc004bjn.2	+	2	886	c.505C>T	c.(505-507)CGC>TGC	p.R169C	PAPPA_uc011lxp.1_Translation_Start_Site|PAPPA_uc011lxq.1_Translation_Start_Site	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	169					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9																		---	---	---	---
TLR4	7099	broad.mit.edu	37	9	120475722	120475722	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:120475722A>C	uc004bjz.2	+	3	1607	c.1316A>C	c.(1315-1317)GAG>GCG	p.E439A	TLR4_uc004bka.2_Missense_Mutation_p.E399A|TLR4_uc004bkb.2_Missense_Mutation_p.E239A	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	439	LRR 13.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16																		---	---	---	---
FCN2	2220	broad.mit.edu	37	9	137778358	137778358	+	Silent	SNP	C	T	T	rs142072878	byFrequency	TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:137778358C>T	uc004cfg.1	+	7	652	c.642C>T	c.(640-642)GAC>GAT	p.D214D	FCN2_uc004cfh.1_Silent_p.D176D	NM_004108	NP_004099	Q15485	FCN2_HUMAN	ficolin 2 isoform a precursor	214	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			large_intestine(1)	1		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)														---	---	---	---
MAMDC4	158056	broad.mit.edu	37	9	139747813	139747813	+	Silent	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139747813C>T	uc004cjs.2	+	3	281	c.231C>T	c.(229-231)GAC>GAT	p.D77D	MAMDC4_uc011mej.1_5'UTR	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	77	Extracellular (Potential).|MAM 1.				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)														---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17113494	17113494	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:17113494T>G	uc001ioo.2	-	19	2608	c.2556A>C	c.(2554-2556)CAA>CAC	p.Q852H		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	852	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)													---	---	---	---
GPR158	57512	broad.mit.edu	37	10	25684866	25684866	+	Silent	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:25684866C>T	uc001isj.2	+	3	1095	c.1035C>T	c.(1033-1035)TTC>TTT	p.F345F		NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	345	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8																		---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37486355	37486355	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:37486355A>C	uc001iza.1	+	29	2594	c.2495A>C	c.(2494-2496)AAG>ACG	p.K832T		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	888						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9																		---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37505169	37505169	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:37505169T>G	uc001iza.1	+	32	2861	c.2762T>G	c.(2761-2763)CTT>CGT	p.L921R		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	977						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9																		---	---	---	---
ZNF33B	7582	broad.mit.edu	37	10	43088461	43088461	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:43088461A>G	uc001jaf.1	-	5	2052	c.1937T>C	c.(1936-1938)TTC>TCC	p.F646S	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.F534S|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	646	C2H2-type 12.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
HTR7	3363	broad.mit.edu	37	10	92508669	92508669	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:92508669G>A	uc001kha.2	-	2	1465	c.1222C>T	c.(1222-1224)CGG>TGG	p.R408W	HTR7_uc001kgz.2_Missense_Mutation_p.R408W|HTR7_uc001khb.2_Missense_Mutation_p.R408W	NM_019859	NP_062873	P34969	5HT7R_HUMAN	5-hydroxytryptamine receptor 7 isoform d	408	Cytoplasmic (By similarity).				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			ovary(1)	1					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)													---	---	---	---
C10orf96	374355	broad.mit.edu	37	10	118116988	118116988	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118116988T>C	uc001lck.2	+	6	796	c.545T>C	c.(544-546)CTT>CCT	p.L182P		NM_198515	NP_940917	P0C7W6	CJ096_HUMAN	hypothetical protein LOC374355	182	Potential.									ovary(2)	2		Lung NSC(174;0.204)|all_lung(145;0.248)		all cancers(201;0.014)														---	---	---	---
EIF3A	8661	broad.mit.edu	37	10	120796691	120796691	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:120796691G>A	uc001ldu.2	-	21	4005	c.3859C>T	c.(3859-3861)CGA>TGA	p.R1287*	EIF3A_uc010qsu.1_Nonsense_Mutation_p.R1253*	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	1287	Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)														---	---	---	---
UBQLNL	143630	broad.mit.edu	37	11	5536964	5536964	+	Silent	SNP	T	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5536964T>C	uc001maz.3	-	1	993	c.708A>G	c.(706-708)CAA>CAG	p.Q236Q	HBG2_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	236										large_intestine(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)														---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6646065	6646065	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6646065G>A	uc001mem.1	-	20	7591	c.7181C>T	c.(7180-7182)GCC>GTC	p.A2394V		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	2394	Cadherin 23.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
MUC15	143662	broad.mit.edu	37	11	26582734	26582734	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:26582734T>C	uc001mqx.2	-	4	1149	c.883A>G	c.(883-885)AGT>GGT	p.S295G	ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Missense_Mutation_p.S322G|MUC15_uc001mqy.2_Missense_Mutation_p.S272G	NM_145650	NP_663625	Q8N387	MUC15_HUMAN	mucin 15 isoform b	295	Cytoplasmic (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---
DCDC1	341019	broad.mit.edu	37	11	31327864	31327864	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:31327864A>C	uc001msv.2	-	5	708	c.506T>G	c.(505-507)CTT>CGT	p.L169R	DCDC1_uc001msu.1_5'UTR	NM_181807	NP_861523	P59894	DCDC1_HUMAN	doublecortin domain containing 1	169	Doublecortin.				intracellular signal transduction					skin(1)	1	Lung SC(675;0.225)																	---	---	---	---
OR4C6	219432	broad.mit.edu	37	11	55433005	55433005	+	Silent	SNP	C	T	T	rs141756140	byFrequency	TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55433005C>T	uc001nht.3	+	3	628	c.363C>T	c.(361-363)TAC>TAT	p.Y121Y	OR4C6_uc010rik.1_Silent_p.Y121Y	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	121	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2																		---	---	---	---
OR5L2	26338	broad.mit.edu	37	11	55594726	55594726	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55594726A>C	uc001nhy.1	+	1	32	c.32A>C	c.(31-33)GAG>GCG	p.E11A		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	11	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)													HNSCC(27;0.073)			---	---	---	---
OR5D16	390144	broad.mit.edu	37	11	55606858	55606858	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55606858A>C	uc010rio.1	+	1	631	c.631A>C	c.(631-633)AGC>CGC	p.S211R		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D,	211	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_epithelial(135;0.208)																---	---	---	---
OR5F1	338674	broad.mit.edu	37	11	55762007	55762007	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55762007A>G	uc010riv.1	-	1	95	c.95T>C	c.(94-96)CTT>CCT	p.L32P		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	32	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)																	---	---	---	---
OR8K1	390157	broad.mit.edu	37	11	56113544	56113544	+	Silent	SNP	G	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56113544G>C	uc010rjg.1	+	1	30	c.30G>C	c.(28-30)ACG>ACC	p.T10T		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K,	10	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)														HNSCC(65;0.19)			---	---	---	---
OR5M10	390167	broad.mit.edu	37	11	56345194	56345194	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56345194A>C	uc001niz.1	-	1	4	c.4T>G	c.(4-6)TTG>GTG	p.L2V		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	2	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
OR8G2	26492	broad.mit.edu	37	11	124096230	124096230	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124096230T>C	uc010saf.1	+	1	833	c.833T>C	c.(832-834)GTC>GCC	p.V278A		NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN	olfactory receptor, family 8, subfamily G,	278						integral to membrane	olfactory receptor activity				0		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)														---	---	---	---
OLR1	4973	broad.mit.edu	37	12	10313422	10313422	+	Missense_Mutation	SNP	T	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10313422T>A	uc001qxo.1	-	4	641	c.527A>T	c.(526-528)GAT>GTT	p.D176V	OLR1_uc010sgz.1_Intron|OLR1_uc010sha.1_Intron	NM_002543	NP_002534	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like)	176	Extracellular (Potential).|C-type lectin.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			ovary(1)	1																		---	---	---	---
KLRC2	3822	broad.mit.edu	37	12	10584760	10584760	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10584760G>A	uc001qyk.2	-	5	536	c.529C>T	c.(529-531)CGT>TGT	p.R177C	KLRC3_uc001qyh.2_Intron|KLRC2_uc010she.1_Missense_Mutation_p.R177C	NM_002260	NP_002251	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C,	177	Extracellular (Potential).|C-type lectin.				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity				0																		---	---	---	---
RECQL	5965	broad.mit.edu	37	12	21627837	21627837	+	Silent	SNP	C	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21627837C>A	uc001rex.2	-	12	1641	c.1293G>T	c.(1291-1293)GTG>GTT	p.V431V	RECQL_uc001rey.2_Silent_p.V431V	NM_032941	NP_116559	P46063	RECQ1_HUMAN	RecQ protein-like	431	Helicase C-terminal.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			ovary(1)|lung(1)	2													Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					---	---	---	---
ADCY6	112	broad.mit.edu	37	12	49167434	49167434	+	Intron	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49167434C>T	uc001rsh.3	-						ADCY6_uc001rsj.3_Intron|ADCY6_uc001rsi.3_Intron|ADCY6_uc010slw.1_Silent_p.P44P	NM_015270	NP_056085			adenylate cyclase 6 isoform a						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	integral to membrane	ATP binding|metal ion binding				0																		---	---	---	---
TPH2	121278	broad.mit.edu	37	12	72332847	72332847	+	Silent	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:72332847G>A	uc009zrw.1	+	1	222	c.81G>A	c.(79-81)GAG>GAA	p.E27E	TPH2_uc001swy.2_5'Flank	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	27					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			ovary(2)|central_nervous_system(1)|skin(1)	4					L-Tryptophan(DB00150)											OREG0021996	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TRHDE	29953	broad.mit.edu	37	12	72969063	72969063	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:72969063A>C	uc001sxa.2	+	11	2055	c.2025A>C	c.(2023-2025)AAA>AAC	p.K675N		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	675	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
GLIPR1L2	144321	broad.mit.edu	37	12	75804385	75804385	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:75804385A>C	uc001sxr.1	+	2	414	c.406A>C	c.(406-408)AGT>CGT	p.S136R	GLIPR1L2_uc001sxp.1_Missense_Mutation_p.S136R|GLIPR1L2_uc001sxq.1_Missense_Mutation_p.S29R	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	136						integral to membrane				ovary(1)	1																		---	---	---	---
TUBA3C	7278	broad.mit.edu	37	13	19748138	19748138	+	Missense_Mutation	SNP	G	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:19748138G>C	uc009zzj.2	-	5	1267	c.1218C>G	c.(1216-1218)CAC>CAG	p.H406Q		NM_006001	NP_005992	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	406					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)|skin(2)	5		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)														---	---	---	---
C13orf31	144811	broad.mit.edu	37	13	44455464	44455464	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:44455464A>G	uc010acg.2	+	2	828	c.343A>G	c.(343-345)ATG>GTG	p.M115V	CCDC122_uc010acf.2_5'Flank|C13orf31_uc001uzf.3_Missense_Mutation_p.M115V	NM_001128303	NP_001121775	Q8IV20	CM031_HUMAN	hypothetical protein LOC144811	115											0		Lung NSC(96;0.000163)|all_hematologic(4;0.0127)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Breast(139;0.0364)|Lung SC(185;0.0367)|Acute lymphoblastic leukemia(4;0.138)		GBM - Glioblastoma multiforme(144;0.000573)|BRCA - Breast invasive adenocarcinoma(63;0.121)														---	---	---	---
C13orf18	80183	broad.mit.edu	37	13	46946153	46946153	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46946153A>C	uc010acl.2	-	3	1063	c.458T>G	c.(457-459)ATT>AGT	p.I153S	C13orf18_uc001vbf.3_Missense_Mutation_p.I86S|C13orf18_uc001vbg.3_5'UTR|C13orf18_uc010tfz.1_Intron|C13orf18_uc010acm.2_Missense_Mutation_p.I18S|C13orf18_uc010acn.2_Intron|C13orf18_uc001vbe.3_Missense_Mutation_p.I153S|C13orf18_uc001vbh.3_Missense_Mutation_p.I153S|C13orf18_uc001vbi.3_Intron|C13orf18_uc010aco.1_Missense_Mutation_p.I153S|C13orf18_uc010tga.1_Missense_Mutation_p.I86S	NM_025113	NP_079389	Q9H714	CM018_HUMAN	hypothetical protein LOC80183	153											0		Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;2.19e-05)														---	---	---	---
SCEL	8796	broad.mit.edu	37	13	78141805	78141805	+	Intron	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:78141805C>T	uc001vki.2	+						SCEL_uc001vkj.2_Intron|SCEL_uc010thx.1_Intron	NM_144777	NP_659001			sciellin isoform 1						embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			ovary(4)|breast(1)	5		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)														---	---	---	---
OR4M1	441670	broad.mit.edu	37	14	20248567	20248567	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20248567T>C	uc010tku.1	+	1	86	c.86T>C	c.(85-87)GTT>GCT	p.V29A		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	29	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---
OR4K5	79317	broad.mit.edu	37	14	20389631	20389631	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20389631T>G	uc010tkw.1	+	1	866	c.866T>G	c.(865-867)CTA>CGA	p.L289R		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K,	289	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---
DHRS4L1	728635	broad.mit.edu	37	14	24505711	24505711	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24505711T>G	uc010alc.2	+	1	2	c.2T>G	c.(1-3)ATG>AGG	p.M1R	DHRS4L1_uc010tnu.1_RNA	NM_001082488	NP_001075957	P0CG22	DR4L1_HUMAN	dehydrogenase/reductase (SDR family) member 4	1							binding|oxidoreductase activity				0																		---	---	---	---
NFATC4	4776	broad.mit.edu	37	14	24839461	24839461	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24839461G>A	uc001wpc.2	+	2	1178	c.857G>A	c.(856-858)CGC>CAC	p.R286H	NFATC4_uc010tok.1_Missense_Mutation_p.R349H|NFATC4_uc010tol.1_Missense_Mutation_p.R349H|NFATC4_uc010alr.2_Missense_Mutation_p.R349H|NFATC4_uc010als.2_Missense_Mutation_p.R299H|NFATC4_uc010tom.1_Missense_Mutation_p.R299H|NFATC4_uc010ton.1_Missense_Mutation_p.R299H|NFATC4_uc010too.1_Missense_Mutation_p.R299H|NFATC4_uc010alt.2_Missense_Mutation_p.R318H|NFATC4_uc010top.1_Missense_Mutation_p.R318H|NFATC4_uc010toq.1_Missense_Mutation_p.R318H|NFATC4_uc010alu.2_Intron|NFATC4_uc010tor.1_Missense_Mutation_p.R286H|NFATC4_uc010tos.1_Missense_Mutation_p.R216H|NFATC4_uc010tot.1_Missense_Mutation_p.R274H|NFATC4_uc010tou.1_Missense_Mutation_p.R216H|NFATC4_uc010tov.1_Missense_Mutation_p.R274H|NFATC4_uc010tow.1_Missense_Mutation_p.R216H|NFATC4_uc010alv.2_Missense_Mutation_p.R274H|NFATC4_uc010tox.1_Missense_Mutation_p.R216H|NFATC4_uc001wpd.2_5'Flank|NFATC4_uc010toy.1_5'Flank|NFATC4_uc010toz.1_5'Flank	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	286	SP 2; approximate.|Pro-rich.|2 approximate SP repeats.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.018)														---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	33293932	33293932	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:33293932A>C	uc001wrq.2	+	13	7083	c.6913A>C	c.(6913-6915)AAT>CAT	p.N2305H		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	2305					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)														---	---	---	---
SNX6	58533	broad.mit.edu	37	14	35077227	35077227	+	Intron	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:35077227A>C	uc001wsf.1	-						SNX6_uc001wse.1_Intron|SNX6_uc010tpm.1_Intron|SNX6_uc010amm.1_Intron	NM_152233	NP_689419			sorting nexin 6 isoform b						cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity				0	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)														---	---	---	---
Unknown	0	broad.mit.edu	37	14	38310789	38310789	+	Intron	SNP	C	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:38310789C>G	uc001wug.2	+						uc001wuh.2_Missense_Mutation_p.P446R|uc001wui.2_RNA|uc001wuj.2_Missense_Mutation_p.P543R					Homo sapiens chromosome 14 open reading frame 25, mRNA (cDNA clone IMAGE:5268731), partial cds.																														---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44975262	44975262	+	Missense_Mutation	SNP	G	A	A	rs147180788		TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:44975262G>A	uc001wvn.2	-	1	1238	c.929C>T	c.(928-930)GCG>GTG	p.A310V		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	310						cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)														---	---	---	---
RPL10L	140801	broad.mit.edu	37	14	47120380	47120380	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:47120380T>G	uc001wwg.2	-	1	649	c.560A>C	c.(559-561)AAG>ACG	p.K187T		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	187					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1																		---	---	---	---
MPP5	64398	broad.mit.edu	37	14	67790529	67790529	+	Silent	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:67790529G>A	uc001xjc.2	+	14	2317	c.1851G>A	c.(1849-1851)AAG>AAA	p.K617K	MPP5_uc001xjd.2_Silent_p.K583K|ATP6V1D_uc001xje.2_Intron	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5	617	Guanylate kinase-like.				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			ovary(1)	1				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)														---	---	---	---
NRXN3	9369	broad.mit.edu	37	14	79746659	79746659	+	Intron	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:79746659C>T	uc001xun.2	+						NRXN3_uc001xum.1_Intron|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.R9W|NRXN3_uc010asw.2_Missense_Mutation_p.R9W|NRXN3_uc001xur.3_Missense_Mutation_p.R9W	NM_004796	NP_004787			neurexin 3 isoform 1 precursor						axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)														---	---	---	---
KCNK10	54207	broad.mit.edu	37	14	88729593	88729593	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:88729593G>A	uc001xwo.2	-	2	797	c.340C>T	c.(340-342)CGG>TGG	p.R114W	KCNK10_uc001xwm.2_Missense_Mutation_p.R119W|KCNK10_uc001xwn.2_Missense_Mutation_p.R119W	NM_021161	NP_066984	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	114					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(2)|pancreas(1)	5																		---	---	---	---
C14orf159	80017	broad.mit.edu	37	14	91655360	91655360	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:91655360T>G	uc001xzb.2	+	11	1794	c.1026T>G	c.(1024-1026)CAT>CAG	p.H342Q	C14orf159_uc010atv.1_RNA|C14orf159_uc001xyy.2_Missense_Mutation_p.H347Q|C14orf159_uc001xyx.2_Missense_Mutation_p.H330Q|C14orf159_uc001xyw.2_Missense_Mutation_p.H347Q|C14orf159_uc001xzc.2_Missense_Mutation_p.H342Q|C14orf159_uc001xza.2_Missense_Mutation_p.H347Q|C14orf159_uc001xyv.2_Missense_Mutation_p.H347Q|C14orf159_uc001xyz.2_Missense_Mutation_p.H218Q|C14orf159_uc001xze.2_Missense_Mutation_p.H342Q	NM_001102366	NP_001095836	Q7Z3D6	CN159_HUMAN	hypothetical protein LOC80017 isoform a	342						mitochondrion				central_nervous_system(2)|ovary(1)	3		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)														---	---	---	---
TECPR2	9895	broad.mit.edu	37	14	102910107	102910107	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102910107G>A	uc001ylw.1	+	12	3024	c.2876G>A	c.(2875-2877)CGG>CAG	p.R959Q	TECPR2_uc010awl.2_Missense_Mutation_p.R959Q|TECPR2_uc010txx.1_Missense_Mutation_p.R122Q	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	959	TECPR 1.						protein binding			lung(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34028450	34028450	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34028450C>T	uc001zhi.2	+	49	7509	c.7439C>T	c.(7438-7440)TCC>TTC	p.S2480F	RYR3_uc010bar.2_Missense_Mutation_p.S2480F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2480	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)														---	---	---	---
C15orf23	90417	broad.mit.edu	37	15	40675071	40675071	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40675071T>G	uc001zll.2	+	1	150	c.35T>G	c.(34-36)GTT>GGT	p.V12G	C15orf23_uc010ucp.1_Missense_Mutation_p.V12G|C15orf23_uc001zlo.2_Missense_Mutation_p.V12G|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	TRAF4 associated factor 1 isoform a	12						nucleus	protein binding			ovary(1)|skin(1)	2		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)														---	---	---	---
IGF1R	3480	broad.mit.edu	37	15	99251142	99251142	+	Missense_Mutation	SNP	T	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:99251142T>A	uc002bul.2	+	2	496	c.446T>A	c.(445-447)CTC>CAC	p.L149H	IGF1R_uc010urq.1_Missense_Mutation_p.L149H|IGF1R_uc010bon.2_Missense_Mutation_p.L149H	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	149					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)													---	---	---	---
OTOA	146183	broad.mit.edu	37	16	21709177	21709177	+	Missense_Mutation	SNP	C	T	T	rs145435704	byFrequency	TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21709177C>T	uc002djh.2	+	9	822	c.821C>T	c.(820-822)ACG>ATG	p.T274M	uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.T195M	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	274					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(48;0.0414)														---	---	---	---
JMJD5	79831	broad.mit.edu	37	16	27226219	27226219	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27226219G>A	uc002doh.2	+	4	870	c.688G>A	c.(688-690)GCT>ACT	p.A230T	JMJD5_uc010vcn.1_Missense_Mutation_p.A268T|JMJD5_uc010bxw.2_Intron|JMJD5_uc010bxx.2_RNA	NM_024773	NP_079049	Q8N371	KDM8_HUMAN	jumonji domain containing 5 isoform 2	230					G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(2)|upper_aerodigestive_tract(1)	3																		---	---	---	---
CDH11	1009	broad.mit.edu	37	16	65016134	65016134	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:65016134T>G	uc002eoi.2	-	8	1504	c.1070A>C	c.(1069-1071)AAG>ACG	p.K357T	CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.K357T|CDH11_uc010vin.1_Missense_Mutation_p.K231T|CDH11_uc002eok.1_RNA	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	357	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)				T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			---	---	---	---
CES2	8824	broad.mit.edu	37	16	66972139	66972139	+	Silent	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66972139G>A	uc002eqr.2	+	2	1468	c.468G>A	c.(466-468)CCG>CCA	p.P156P	CES2_uc002eqq.2_Silent_p.P156P|CES2_uc002eqs.2_5'UTR	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	92					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)														---	---	---	---
ZNF821	55565	broad.mit.edu	37	16	71898036	71898036	+	Intron	SNP	C	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:71898036C>G	uc010vmj.1	-						ATXN1L_uc010vmi.1_Intron|ZNF821_uc002fbe.2_Intron|ZNF821_uc002fbf.2_Intron|ZNF821_uc002fbg.3_Intron|ZNF821_uc002fbh.3_Intron|ZNF821_uc002fbi.3_Intron	NM_017530	NP_060000			zinc finger protein 821						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
KCNJ12	3768	broad.mit.edu	37	17	21318761	21318761	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:21318761T>C	uc002gyv.1	+	3	812	c.107T>C	c.(106-108)GTG>GCG	p.V36A		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	36	Cytoplasmic (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)										Prostate(3;0.18)			---	---	---	---
KRT28	162605	broad.mit.edu	37	17	38955754	38955754	+	Missense_Mutation	SNP	C	T	T	rs140121032	byFrequency;by1000genomes	TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38955754C>T	uc002hvh.1	-	1	458	c.392G>A	c.(391-393)CGT>CAT	p.R131H		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	131	Rod.|Linker 1.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)																---	---	---	---
KRTAP4-5	85289	broad.mit.edu	37	17	39305930	39305930	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39305930G>T	uc002hwb.2	-	1	125	c.90C>A	c.(88-90)TGC>TGA	p.C30*		NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	30	4.|27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)															---	---	---	---
PLCD3	113026	broad.mit.edu	37	17	43196223	43196223	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:43196223C>T	uc002iib.2	-	5	986	c.872G>A	c.(871-873)CGC>CAC	p.R291H		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	291					intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)													---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21331030	21331030	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21331030G>A	uc002kuq.2	+	5	919	c.833G>A	c.(832-834)CGA>CAA	p.R278Q	LAMA3_uc010dlv.1_Missense_Mutation_p.R278Q|LAMA3_uc002kur.2_Missense_Mutation_p.R278Q	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	278	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31322938	31322938	+	Silent	SNP	T	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:31322938T>C	uc010dmg.1	+	12	3181	c.3126T>C	c.(3124-3126)TCT>TCC	p.S1042S	ASXL3_uc002kxq.2_Silent_p.S749S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1042					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3																		---	---	---	---
DCC	1630	broad.mit.edu	37	18	51013247	51013247	+	Missense_Mutation	SNP	C	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:51013247C>A	uc002lfe.1	+	26	4404	c.3817C>A	c.(3817-3819)CCC>ACC	p.P1273T	DCC_uc010dpf.1_Missense_Mutation_p.P908T	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1273	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)														---	---	---	---
CYP4F3	4051	broad.mit.edu	37	19	15760856	15760856	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15760856C>T	uc002nbj.2	+	7	831	c.781C>T	c.(781-783)CGC>TGC	p.R261C	CYP4F3_uc010xok.1_Missense_Mutation_p.R261C|CYP4F3_uc010xol.1_Missense_Mutation_p.R261C|CYP4F3_uc010xom.1_Missense_Mutation_p.R112C|CYP4F3_uc002nbk.2_Missense_Mutation_p.R261C|CYP4F3_uc010xon.1_5'UTR	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	261					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			ovary(3)	3																		---	---	---	---
KIAA1683	80726	broad.mit.edu	37	19	18376589	18376589	+	Silent	SNP	A	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18376589A>G	uc002nin.2	-	3	1977	c.1761T>C	c.(1759-1761)CAT>CAC	p.H587H	KIAA1683_uc010ebn.2_Silent_p.H587H|KIAA1683_uc010xqe.1_Silent_p.H541H	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	587						mitochondrion				ovary(2)	2																		---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22363964	22363964	+	Silent	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22363964A>C	uc002nqs.1	-	3	873	c.555T>G	c.(553-555)ACT>ACG	p.T185T		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	185	C2H2-type 1; degenerate.			TLTYYKSI -> NLMEHKRV (in Ref. 2; BAC05174).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)																---	---	---	---
ZNF492	57615	broad.mit.edu	37	19	22836717	22836717	+	Intron	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22836717A>C	uc002nqw.3	+							NM_020855	NP_065906			zinc finger protein 492						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)																---	---	---	---
ZNF492	57615	broad.mit.edu	37	19	22847417	22847417	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22847417A>G	uc002nqw.3	+	4	1190	c.946A>G	c.(946-948)AAG>GAG	p.K316E		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	zinc finger protein 492	316	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)																---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22940468	22940468	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22940468A>C	uc010xrh.1	-	5	1970	c.1970T>G	c.(1969-1971)CTT>CGT	p.L657R		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)																---	---	---	---
UQCRFS1	7386	broad.mit.edu	37	19	29698476	29698476	+	Silent	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:29698476G>A	uc002nsd.2	-	2	915	c.804C>T	c.(802-804)GAC>GAT	p.D268D		NM_006003	NP_005994	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske	268	Rieske.				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity				0	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)															---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	31040275	31040275	+	Missense_Mutation	SNP	A	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:31040275A>T	uc002nsu.1	+	4	3887	c.3749A>T	c.(3748-3750)AAG>ATG	p.K1250M	ZNF536_uc010edd.1_Missense_Mutation_p.K1250M	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)																	---	---	---	---
ARHGAP33	115703	broad.mit.edu	37	19	36271381	36271381	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36271381G>A	uc002obr.1	+	8	768	c.683G>A	c.(682-684)CGG>CAG	p.R228Q	ARHGAP33_uc002obs.1_Missense_Mutation_p.R228Q|ARHGAP33_uc002obt.1_Missense_Mutation_p.R92Q|ARHGAP33_uc010eel.2_5'Flank|ARHGAP33_uc002obv.1_5'Flank	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	228	SH3.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
ZFP14	57677	broad.mit.edu	37	19	36832163	36832163	+	Missense_Mutation	SNP	G	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36832163G>C	uc002odx.1	-	4	658	c.565C>G	c.(565-567)CAA>GAA	p.Q189E	ZFP14_uc010xtd.1_Missense_Mutation_p.Q190E|ZFP14_uc010eex.1_Missense_Mutation_p.Q189E	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	zinc finger protein 14-like	189	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.162)																	---	---	---	---
ZNF571	51276	broad.mit.edu	37	19	38056875	38056875	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38056875G>A	uc002ogt.2	-	4	556	c.455C>T	c.(454-456)TCA>TTA	p.S152L	uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Missense_Mutation_p.S152L	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	152	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---
CCDC155	147872	broad.mit.edu	37	19	49918217	49918217	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49918217A>C	uc002pnm.1	+	17	1512	c.1338A>C	c.(1336-1338)AGA>AGC	p.R446S	CCDC155_uc010emx.1_Missense_Mutation_p.R417S	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	446						integral to membrane	calcium ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
SIGLEC5	8778	broad.mit.edu	37	19	52130978	52130978	+	Missense_Mutation	SNP	G	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52130978G>C	uc002pxe.2	-	6	1158	c.1019C>G	c.(1018-1020)CCC>CGC	p.P340R		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor	340	Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			skin(2)|breast(1)|central_nervous_system(1)	4		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)														---	---	---	---
MIR519A1	574496	broad.mit.edu	37	19	54255679	54255679	+	RNA	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54255679G>A	hsa-mir-519a-1|MI0003178	+			c.29G>A			MIR527_hsa-mir-527|MI0003179_5'Flank																	0																		---	---	---	---
ZNF416	55659	broad.mit.edu	37	19	58084932	58084932	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58084932T>C	uc002qpf.2	-	4	511	c.340A>G	c.(340-342)ACC>GCC	p.T114A	ZNF547_uc002qpm.3_Intron	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)														---	---	---	---
ZSCAN4	201516	broad.mit.edu	37	19	58190208	58190208	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58190208C>T	uc002qpu.2	+	5	1934	c.1237C>T	c.(1237-1239)CGC>TGC	p.R413C		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	413	C2H2-type 4.				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)														---	---	---	---
FERMT1	55612	broad.mit.edu	37	20	6064684	6064684	+	Intron	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:6064684C>T	uc002wmr.2	-						FERMT1_uc002wmq.2_Intron|FERMT1_uc010gbt.2_Intron	NM_017671	NP_060141			kindlin-1						cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
PAX1	5075	broad.mit.edu	37	20	21687401	21687401	+	Silent	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:21687401C>T	uc002wsj.2	+	2	666	c.612C>T	c.(610-612)GGC>GGT	p.G204G	PAX1_uc010zsl.1_Silent_p.G204G|PAX1_uc010zsm.1_Silent_p.G180G	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	204	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2																		---	---	---	---
DEFB118	117285	broad.mit.edu	37	20	29960728	29960728	+	Missense_Mutation	SNP	G	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:29960728G>T	uc002wvr.2	+	2	153	c.127G>T	c.(127-129)GCA>TCA	p.A43S		NM_054112	NP_473453	Q96PH6	DB118_HUMAN	beta-defensin 118 precursor	43					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				ovary(3)|pancreas(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)															---	---	---	---
NCOA5	57727	broad.mit.edu	37	20	44695694	44695694	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44695694T>C	uc002xrd.2	-	4	1157	c.629A>G	c.(628-630)AAA>AGA	p.K210R	NCOA5_uc002xrc.2_Missense_Mutation_p.K98R|NCOA5_uc002xre.2_Missense_Mutation_p.K210R	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)																---	---	---	---
ZNF217	7764	broad.mit.edu	37	20	52198276	52198276	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:52198276C>T	uc002xwq.3	-	1	1361	c.1090G>A	c.(1090-1092)GAT>AAT	p.D364N	ZNF217_uc010gij.1_Missense_Mutation_p.D356N	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	364					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)															---	---	---	---
ZNF217	7764	broad.mit.edu	37	20	52198321	52198321	+	Nonsense_Mutation	SNP	C	A	A	rs141467941	byFrequency	TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:52198321C>A	uc002xwq.3	-	1	1316	c.1045G>T	c.(1045-1047)GAG>TAG	p.E349*	ZNF217_uc010gij.1_Nonsense_Mutation_p.E341*	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	349					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)															---	---	---	---
ZNF217	7764	broad.mit.edu	37	20	52198327	52198327	+	Missense_Mutation	SNP	C	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:52198327C>G	uc002xwq.3	-	1	1310	c.1039G>C	c.(1039-1041)GAG>CAG	p.E347Q	ZNF217_uc010gij.1_Missense_Mutation_p.E339Q	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	347					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)															---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10952958	10952958	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:10952958T>C	uc002yip.1	-	9	607	c.239A>G	c.(238-240)AAG>AGG	p.K80R	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.K62R|TPTE_uc002yir.1_Missense_Mutation_p.K42R|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	80					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)														---	---	---	---
SAMSN1	64092	broad.mit.edu	37	21	15858241	15858241	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:15858241T>G	uc002yju.1	-	8	1196	c.1114A>C	c.(1114-1116)AGT>CGT	p.S372R	SAMSN1_uc010gky.1_Missense_Mutation_p.S204R|SAMSN1_uc002yjv.1_Missense_Mutation_p.S440R	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization	372					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			ovary(3)|pancreas(1)	4				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)														---	---	---	---
MIR125B2	406912	broad.mit.edu	37	21	17962589	17962589	+	RNA	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:17962589T>G	hsa-mir-125b-2|MI0000470	+			c.33T>G			C21orf34_uc002ykb.2_Intron|C21orf34_uc010glc.2_Intron|C21orf34_uc002ykc.2_Intron|uc002ykf.2_RNA																	0																		---	---	---	---
APP	351	broad.mit.edu	37	21	27264118	27264118	+	Silent	SNP	A	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:27264118A>G	uc002ylz.2	-	17	2327	c.2127T>C	c.(2125-2127)GGT>GGC	p.G709G	APP_uc011acg.1_Silent_p.G217G|APP_uc010glk.2_Silent_p.G685G|APP_uc002yma.2_Silent_p.G690G|APP_uc011ach.1_Silent_p.G653G|APP_uc002ymb.2_Silent_p.G634G|APP_uc010glj.2_Silent_p.G578G|APP_uc011aci.1_Silent_p.G599G	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	709	Helical; (Potential).				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)																---	---	---	---
ADAMTS5	11096	broad.mit.edu	37	21	28304387	28304387	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:28304387G>A	uc002ymg.2	-	6	2714	c.1985C>T	c.(1984-1986)GCG>GTG	p.A662V		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	662	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
KRTAP21-2	337978	broad.mit.edu	37	21	32119344	32119344	+	Nonsense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:32119344A>C	uc011adh.1	-	1	177	c.177T>G	c.(175-177)TAT>TAG	p.Y59*		NM_181617	NP_853648	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	59						intermediate filament					0																		---	---	---	---
NAGA	4668	broad.mit.edu	37	22	42462769	42462769	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42462769C>T	uc003bbx.2	-	6	679	c.542G>A	c.(541-543)CGC>CAC	p.R181H	NAGA_uc003bby.2_Missense_Mutation_p.R181H|NAGA_uc003bbw.3_Missense_Mutation_p.R181H	NM_000262	NP_000253	P17050	NAGAB_HUMAN	alpha-N-acetylgalactosaminidase precursor	181					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)	1																		---	---	---	---
TUBGCP6	85378	broad.mit.edu	37	22	50659547	50659547	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50659547C>T	uc003bkb.1	-	16	3753	c.3241G>A	c.(3241-3243)GGA>AGA	p.G1081R	TUBGCP6_uc003bka.1_Missense_Mutation_p.G168R|TUBGCP6_uc010har.1_Missense_Mutation_p.G1073R|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1081	9 X 27 AA tandem repeats.|3.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)														---	---	---	---
ACE2	59272	broad.mit.edu	37	X	15593858	15593858	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:15593858T>G	uc004cxa.1	-	10	1541	c.1373A>C	c.(1372-1374)AAG>ACG	p.K458T	ACE2_uc004cxb.2_Missense_Mutation_p.K458T	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2 precursor	458	Extracellular (Potential).				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			ovary(3)	3	Hepatocellular(33;0.183)				Moexipril(DB00691)													---	---	---	---
NR0B1	190	broad.mit.edu	37	X	30326665	30326665	+	Silent	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:30326665C>T	uc004dcf.3	-	1	831	c.816G>A	c.(814-816)TTG>TTA	p.L272L		NM_000475	NP_000466	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	272	Ligand-binding (By similarity).				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			ovary(1)|lung(1)	2					Dexamethasone(DB01234)|Tretinoin(DB00755)											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
USP9X	8239	broad.mit.edu	37	X	41075642	41075642	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:41075642G>A	uc004dfb.2	+	35	6455	c.5822G>A	c.(5821-5823)CGC>CAC	p.R1941H	USP9X_uc004dfc.2_Missense_Mutation_p.R1941H	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	1941					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6																		---	---	---	---
AR	367	broad.mit.edu	37	X	66765865	66765865	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:66765865T>C	uc004dwu.1	+	1	1992	c.877T>C	c.(877-879)TCT>CCT	p.S293P	AR_uc011mpd.1_Missense_Mutation_p.S293P|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.S293P	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	291	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)									Androgen_Insensitivity_Syndrome				---	---	---	---
NLGN3	54413	broad.mit.edu	37	X	70375090	70375090	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70375090G>A	uc004dzd.1	+	4	804	c.604G>A	c.(604-606)GTC>ATC	p.V202I	NLGN3_uc010nlb.1_Missense_Mutation_p.V162I|NLGN3_uc004dzb.2_Missense_Mutation_p.V182I|NLGN3_uc004dzc.2_Missense_Mutation_p.V65I|NLGN3_uc011mps.1_Missense_Mutation_p.V162I|NLGN3_uc004dze.2_5'UTR|NLGN3_uc011mpr.1_Missense_Mutation_p.V162I	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	202	Extracellular (Potential).				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			ovary(1)	1	Renal(35;0.156)																	---	---	---	---
ZMYM3	9203	broad.mit.edu	37	X	70470284	70470284	+	Missense_Mutation	SNP	C	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70470284C>A	uc004dzh.1	-	5	1158	c.1071G>T	c.(1069-1071)AAG>AAT	p.K357N	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.K357N|ZMYM3_uc004dzj.1_Missense_Mutation_p.K357N|ZMYM3_uc011mpu.1_Missense_Mutation_p.K88N|ZMYM3_uc004dzk.3_Missense_Mutation_p.K357N|ZMYM3_uc004dzl.3_Missense_Mutation_p.K357N|ZMYM3_uc004dzm.3_Missense_Mutation_p.K357N	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	zinc finger protein 261	357	MYM-type 1.				multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Renal(35;0.156)																	---	---	---	---
KIAA2022	340533	broad.mit.edu	37	X	73961616	73961616	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73961616T>G	uc004eby.2	-	3	3393	c.2776A>C	c.(2776-2778)AAT>CAT	p.N926H		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	926					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15																		---	---	---	---
KLHL4	56062	broad.mit.edu	37	X	86919826	86919826	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:86919826T>G	uc004efb.2	+	10	2170	c.1988T>G	c.(1987-1989)GTT>GGT	p.V663G	KLHL4_uc004efa.2_Missense_Mutation_p.V663G	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	663	Kelch 5.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5																		---	---	---	---
DIAPH2	1730	broad.mit.edu	37	X	95993746	95993746	+	Silent	SNP	C	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:95993746C>A	uc004efu.3	+	3	723	c.327C>A	c.(325-327)CTC>CTA	p.L109L	DIAPH2_uc004eft.3_Silent_p.L109L|DIAPH2_uc004efs.2_Silent_p.L109L	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	109	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4																		---	---	---	---
ARL13A	392509	broad.mit.edu	37	X	100242442	100242442	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100242442C>T	uc004ego.2	+	6	666	c.550C>T	c.(550-552)CGC>TGC	p.R184C	ARL13A_uc011mrf.1_Missense_Mutation_p.R184C|ARL13A_uc010nng.2_Missense_Mutation_p.R184C	NM_001012990	NP_001013008	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13 isoform a	184							GTP binding			ovary(1)	1																		---	---	---	---
NXT2	55916	broad.mit.edu	37	X	108785790	108785790	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:108785790A>C	uc004eof.1	+	4	446	c.302A>C	c.(301-303)AAG>ACG	p.K101T	NXT2_uc004eoe.1_Missense_Mutation_p.K156T|NXT2_uc004eog.1_Missense_Mutation_p.K73T	NM_018698	NP_061168	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2	101	NTF2.				mRNA transport|protein transport	cytoplasm|nucleus				ovary(1)	1																		---	---	---	---
GRIA3	2892	broad.mit.edu	37	X	122319754	122319754	+	Silent	SNP	C	T	T			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:122319754C>T	uc004etq.3	+	3	473	c.180C>T	c.(178-180)ACC>ACT	p.T60T	GRIA3_uc004etr.3_Silent_p.T60T|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Silent_p.T44T|GRIA3_uc010nqs.1_Silent_p.T60T	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	60	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Glutamic Acid(DB00142)													---	---	---	---
F9	2158	broad.mit.edu	37	X	138630607	138630607	+	Missense_Mutation	SNP	G	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:138630607G>C	uc004fas.1	+	5	506	c.477G>C	c.(475-477)GAG>GAC	p.E159D	F9_uc004fat.1_Missense_Mutation_p.E121D	NM_000133	NP_000124	P00740	FA9_HUMAN	coagulation factor IX preproprotein	159	EGF-like 2.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)													---	---	---	---
SLITRK2	84631	broad.mit.edu	37	X	144904233	144904233	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:144904233G>A	uc004fcd.2	+	5	1280	c.290G>A	c.(289-291)GGG>GAG	p.G97E	SLITRK2_uc010nsp.2_Missense_Mutation_p.G97E|SLITRK2_uc010nso.2_Missense_Mutation_p.G97E|SLITRK2_uc011mwq.1_Missense_Mutation_p.G97E|SLITRK2_uc011mwr.1_Missense_Mutation_p.G97E|SLITRK2_uc011mws.1_Missense_Mutation_p.G97E|SLITRK2_uc004fcg.2_Missense_Mutation_p.G97E|SLITRK2_uc011mwt.1_Missense_Mutation_p.G97E	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	97	Extracellular (Potential).|LRR 2.					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
FMR1NB	158521	broad.mit.edu	37	X	147088344	147088344	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:147088344T>G	uc004fcm.2	+	3	594	c.520T>G	c.(520-522)TTT>GTT	p.F174V		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	174	P-type.|Extracellular (Potential).					integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MAGEA4	4103	broad.mit.edu	37	X	151092883	151092883	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:151092883A>C	uc004fez.2	+	3	903	c.747A>C	c.(745-747)CAA>CAC	p.Q249H	MAGEA4_uc004ffa.2_Missense_Mutation_p.Q249H|MAGEA4_uc004ffb.2_Missense_Mutation_p.Q249H|MAGEA4_uc004ffc.2_Missense_Mutation_p.Q249H|MAGEA4_uc004ffd.2_Missense_Mutation_p.Q249H	NM_002362	NP_002353	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	249	MAGE.						protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MIR224	407009	broad.mit.edu	37	X	151127121	151127121	+	RNA	SNP	T	C	C			TCGA-D7-6527-01	TCGA-D7-6527-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:151127121T>C	hsa-mir-224|MI0000301	-			c.10T>C			GABRE_uc004ffi.2_Intron|GABRE_uc011myd.1_Intron|GABRE_uc011mye.1_Intron																	0																		---	---	---	---
