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	dataset	MUTSIG_Significant_Genes	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
TCL1B	9623	broad.mit.edu	37	14	96152950	96152951	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:96152950_96152951CC>AA	uc001yez.2	+	1	188_189	c.146_147CC>AA	c.(145-147)GCC>GAA	p.A49E	TCL1B_uc001yew.2_Intron|TCL1B_uc001yex.2_Intron|TCL1B_uc010avj.2_Intron|TCL1B_uc001yfa.2_Missense_Mutation_p.A49E	NM_004918	NP_004909	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	49										ovary(1)	1		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)														---	---	---	---	capture		Missense_Mutation	DNP	96152950	96152951	16231	14	CC	AA	AA	26	26	TCL1B	AA	2	2
CEP152	22995	broad.mit.edu	37	15	49048099	49048100	+	Splice_Site	DNP	CC	AA	AA			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49048099_49048100CC>AA	uc001zwy.2	-	20	3379	c.3345_splice	c.e20+1	p.K1115_splice	CEP152_uc001zwz.2_Splice_Site_p.K1115_splice|CEP152_uc001zxa.1_Splice_Site_p.K1022_splice	NM_014985	NP_055800			centrosomal protein 152kDa						centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)														---	---	---	---	capture		Splice_Site	DNP	49048099	49048100	3381	15	CC	AA	AA	18	18	CEP152	AA	5	2
ACSM2A	123876	broad.mit.edu	37	16	20480859	20480860	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20480859_20480860CC>AA	uc010bwe.2	+	5	653_654	c.414_415CC>AA	c.(412-417)ATCCAG>ATAAAG	p.Q139K	ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Missense_Mutation_p.Q60K|ACSM2A_uc002dhf.3_Missense_Mutation_p.Q139K|ACSM2A_uc002dhg.3_Missense_Mutation_p.Q139K|ACSM2A_uc010vay.1_Missense_Mutation_p.Q60K	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	139		Coenzyme A.			fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3																		---	---	---	---	capture		Missense_Mutation	DNP	20480859	20480860	184	16	CC	AA	AA	30	30	ACSM2A	AA	2	2
SS18	6760	broad.mit.edu	37	18	23612395	23612396	+	Missense_Mutation	DNP	GC	AA	AA			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:23612395_23612396GC>AA	uc002kvm.2	-	10	1275_1276	c.1197_1198GC>TT	c.(1195-1200)CAGCCA>CATTCA	p.399_400QP>HS	SS18_uc002kvn.2_Missense_Mutation_p.368_369QP>HS|SS18_uc010xbf.1_Missense_Mutation_p.317_318QP>HS|SS18_uc010xbg.1_Missense_Mutation_p.316_317QP>HS|SS18_uc010xbh.1_Missense_Mutation_p.316_317QP>HS|SS18_uc010xbi.1_Missense_Mutation_p.376_377QP>HS	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	399_400	Gln-rich.|SH3-binding (Potential).				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)	soft_tissue(1883)|ovary(1)	1884	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)							T	SSX1| SSX2	synovial sarcoma								---	---	---	---	capture		Missense_Mutation	DNP	23612395	23612396	15690	18	GC	AA	AA	42	42	SS18	AA	2	2
HEATR7B2	133558	broad.mit.edu	37	5	41049530	41049531	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41049530_41049531CC>AT	uc003jmj.3	-	14	1842_1843	c.1352_1353GG>AT	c.(1351-1353)TGG>TAT	p.W451Y	HEATR7B2_uc003jmi.3_Missense_Mutation_p.W6Y	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	451							binding			ovary(6)|central_nervous_system(2)	8																		---	---	---	---	capture		Missense_Mutation	DNP	41049530	41049531	7318	5	CC	AT	AT	26	26	HEATR7B2	AT	2	2
OBSCN	84033	broad.mit.edu	37	1	228469780	228469781	+	Frame_Shift_Ins	INS	-	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228469780_228469781insT	uc009xez.1	+	31	8388_8389	c.8344_8345insT	c.(8344-8346)CGCfs	p.R2782fs	OBSCN_uc001hsn.2_Frame_Shift_Ins_p.R2782fs|OBSCN_uc001hsp.1_Frame_Shift_Ins_p.R481fs|OBSCN_uc001hsq.1_Frame_Shift_Ins_p.R38fs	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2782	Ig-like 27.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)																---	---	---	---	capture_indel		Frame_Shift_Ins	INS	228469780	228469781	11217	1	-	T	T	23	23	OBSCN	T	5	5
SRRM1	10250	broad.mit.edu	37	1	24976564	24976564	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24976564C>G	uc001bjm.2	+	5	732	c.508C>G	c.(508-510)CGT>GGT	p.R170G	SRRM1_uc010oel.1_Missense_Mutation_p.R170G|SRRM1_uc009vrh.1_Missense_Mutation_p.R131G|SRRM1_uc009vri.1_Missense_Mutation_p.R87G|SRRM1_uc010oem.1_RNA	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	170	Arg-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)														---	---	---	---	capture		Missense_Mutation	SNP	24976564	24976564	15682	1	C	G	G	31	31	SRRM1	G	3	3
SFPQ	6421	broad.mit.edu	37	1	35657072	35657072	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35657072C>A	uc001bys.2	-	2	980	c.887G>T	c.(886-888)CGA>CTA	p.R296L	SFPQ_uc001byr.2_5'Flank	NM_005066	NP_005057	P23246	SFPQ_HUMAN	splicing factor proline/glutamine rich	296					alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|protein binding|RNA binding		SFPQ/TFE3(6)	kidney(4)|soft_tissue(2)|ovary(1)|skin(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)						T	TFE3	papillary renal cell								---	---	---	---	capture		Missense_Mutation	SNP	35657072	35657072	14649	1	C	A	A	31	31	SFPQ	A	1	1
ZMYM4	9202	broad.mit.edu	37	1	35847261	35847261	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35847261G>T	uc001byt.2	+	9	1551	c.1471G>T	c.(1471-1473)GGT>TGT	p.G491C	ZMYM4_uc009vuu.2_Missense_Mutation_p.G459C|ZMYM4_uc001byu.2_Missense_Mutation_p.G167C|ZMYM4_uc009vuv.2_Missense_Mutation_p.G230C	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	491	MYM-type 3.				multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)																---	---	---	---	capture		Missense_Mutation	SNP	35847261	35847261	18293	1	G	T	T	43	43	ZMYM4	T	2	2
KIF2C	11004	broad.mit.edu	37	1	45226350	45226350	+	Missense_Mutation	SNP	T	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45226350T>G	uc001cmg.3	+	16	1774	c.1659T>G	c.(1657-1659)ATT>ATG	p.I553M	KIF2C_uc010olb.1_Missense_Mutation_p.I512M|KIF2C_uc010olc.1_Missense_Mutation_p.I440M|KIF2C_uc001cmh.3_Missense_Mutation_p.I499M	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	kinesin family member 2C	553					blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	45226350	45226350	8610	1	T	G	G	63	63	KIF2C	G	4	4
ORC1L	4998	broad.mit.edu	37	1	52849168	52849168	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52849168C>A	uc001ctt.2	-	13	2156	c.1937G>T	c.(1936-1938)CGG>CTG	p.R646L	ORC1L_uc010oni.1_Missense_Mutation_p.R641L|ORC1L_uc001ctu.2_Missense_Mutation_p.R646L|ORC1L_uc009vzd.2_Missense_Mutation_p.R400L	NM_004153	NP_004144	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	646	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	52849168	52849168	11672	1	C	A	A	23	23	ORC1L	A	1	1
COL24A1	255631	broad.mit.edu	37	1	86307765	86307765	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:86307765G>T	uc001dlj.2	-	41	3598	c.3556C>A	c.(3556-3558)CCT>ACT	p.P1186T	COL24A1_uc001dli.2_Missense_Mutation_p.P322T|COL24A1_uc010osd.1_Missense_Mutation_p.P486T|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	1186	Collagen-like 12.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)														---	---	---	---	capture		Missense_Mutation	SNP	86307765	86307765	3821	1	G	T	T	44	44	COL24A1	T	2	2
BRDT	676	broad.mit.edu	37	1	92442847	92442847	+	Missense_Mutation	SNP	T	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:92442847T>C	uc001dok.3	+	6	1215	c.866T>C	c.(865-867)TTT>TCT	p.F289S	BRDT_uc001dol.3_Missense_Mutation_p.F289S|BRDT_uc010osz.1_Missense_Mutation_p.F293S|BRDT_uc009wdf.2_Missense_Mutation_p.F216S|BRDT_uc010ota.1_Missense_Mutation_p.F243S|BRDT_uc010otb.1_Missense_Mutation_p.F243S|BRDT_uc001dom.3_Missense_Mutation_p.F289S	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	289	Bromo 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)														---	---	---	---	capture		Missense_Mutation	SNP	92442847	92442847	1539	1	T	C	C	64	64	BRDT	C	4	4
COL11A1	1301	broad.mit.edu	37	1	103385884	103385884	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:103385884C>G	uc001dul.2	-	49	4063	c.3745G>C	c.(3745-3747)GGT>CGT	p.G1249R	COL11A1_uc001duk.2_Missense_Mutation_p.G445R|COL11A1_uc001dum.2_Missense_Mutation_p.G1261R|COL11A1_uc001dun.2_Missense_Mutation_p.G1210R|COL11A1_uc009weh.2_Missense_Mutation_p.G1133R	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1249	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)														---	---	---	---	capture		Missense_Mutation	SNP	103385884	103385884	3805	1	C	G	G	21	21	COL11A1	G	3	3
COL11A1	1301	broad.mit.edu	37	1	103444627	103444627	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:103444627G>C	uc001dul.2	-	33	2962	c.2644C>G	c.(2644-2646)CGT>GGT	p.R882G	COL11A1_uc001duk.2_Missense_Mutation_p.R78G|COL11A1_uc001dum.2_Missense_Mutation_p.R894G|COL11A1_uc001dun.2_Missense_Mutation_p.R843G|COL11A1_uc009weh.2_Missense_Mutation_p.R766G	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	882	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)														---	---	---	---	capture		Missense_Mutation	SNP	103444627	103444627	3805	1	G	C	C	38	38	COL11A1	C	3	3
WDR47	22911	broad.mit.edu	37	1	109538232	109538232	+	Missense_Mutation	SNP	A	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109538232A>G	uc001dwj.2	-	8	2037	c.1661T>C	c.(1660-1662)TTT>TCT	p.F554S	WDR47_uc001dwl.2_Missense_Mutation_p.F562S|WDR47_uc001dwi.2_Missense_Mutation_p.F555S|WDR47_uc001dwk.2_Missense_Mutation_p.F526S|WDR47_uc010ovf.1_Missense_Mutation_p.F481S	NM_001142551	NP_001136023	O94967	WDR47_HUMAN	WD repeat domain 47 isoform 3	554								p.P554R(1)		ovary(1)	1		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)														---	---	---	---	capture		Missense_Mutation	SNP	109538232	109538232	17873	1	A	G	G	1	1	WDR47	G	4	4
KCNA10	3744	broad.mit.edu	37	1	111060809	111060809	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:111060809G>C	uc001dzt.1	-	1	989	c.601C>G	c.(601-603)CAG>GAG	p.Q201E		NM_005549	NP_005540	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related	201						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			ovary(3)|large_intestine(1)	4		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)														---	---	---	---	capture		Missense_Mutation	SNP	111060809	111060809	8307	1	G	C	C	45	45	KCNA10	C	3	3
SPAG17	200162	broad.mit.edu	37	1	118514563	118514563	+	Silent	SNP	G	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:118514563G>C	uc001ehk.2	-	45	6317	c.6249C>G	c.(6247-6249)GTC>GTG	p.V2083V		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2083						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)														---	---	---	---	capture		Silent	SNP	118514563	118514563	15482	1	G	C	C	45	45	SPAG17	C	3	3
ITGA10	8515	broad.mit.edu	37	1	145528606	145528606	+	Missense_Mutation	SNP	T	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145528606T>C	uc001eoa.2	+	5	479	c.403T>C	c.(403-405)TCT>CCT	p.S135P	NBPF10_uc001emp.3_Intron|ITGA10_uc001enz.1_3'UTR|ITGA10_uc010oyv.1_Intron|ITGA10_uc009wiw.2_Intron|ITGA10_uc010oyw.1_Missense_Mutation_p.S80P	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	135	FG-GAP 2.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)																	---	---	---	---	capture		Missense_Mutation	SNP	145528606	145528606	8177	1	T	C	C	54	54	ITGA10	C	4	4
MTMR11	10903	broad.mit.edu	37	1	149901065	149901065	+	Missense_Mutation	SNP	T	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149901065T>C	uc001etl.3	-	17	2337	c.2086A>G	c.(2086-2088)ATT>GTT	p.I696V	SF3B4_uc001etj.1_5'Flank|SF3B4_uc001etk.1_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.1_Missense_Mutation_p.I624V	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	myotubularin related protein 11 isoform a	696							phosphatase activity			central_nervous_system(1)	1	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)															---	---	---	---	capture		Missense_Mutation	SNP	149901065	149901065	10333	1	T	C	C	52	52	MTMR11	C	4	4
IQGAP3	128239	broad.mit.edu	37	1	156532988	156532988	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156532988C>G	uc001fpf.2	-	8	811	c.736G>C	c.(736-738)GCC>CCC	p.A246P	IQGAP3_uc009wsb.1_Missense_Mutation_p.A203P	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	246					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---	capture		Missense_Mutation	SNP	156532988	156532988	8119	1	C	G	G	28	28	IQGAP3	G	3	3
CD5L	922	broad.mit.edu	37	1	157805906	157805906	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:157805906C>G	uc001frk.3	-	3	238	c.95G>C	c.(94-96)CGC>CCC	p.R32P		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	32	SRCR 1.				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)															---	---	---	---	capture		Missense_Mutation	SNP	157805906	157805906	3155	1	C	G	G	27	27	CD5L	G	3	3
SPTA1	6708	broad.mit.edu	37	1	158651438	158651438	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158651438C>A	uc001fst.1	-	4	609	c.410G>T	c.(409-411)CGC>CTC	p.R137L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	137	Spectrin 2.				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)																	---	---	---	---	capture		Missense_Mutation	SNP	158651438	158651438	15630	1	C	A	A	27	27	SPTA1	A	1	1
PRG4	10216	broad.mit.edu	37	1	186277571	186277571	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186277571C>A	uc001gru.3	+	7	2771	c.2720C>A	c.(2719-2721)ACT>AAT	p.T907N	PRG4_uc001grt.3_Missense_Mutation_p.T866N|PRG4_uc009wyl.2_Missense_Mutation_p.T814N|PRG4_uc009wym.2_Missense_Mutation_p.T773N|PRG4_uc010poo.1_RNA	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	907					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	186277571	186277571	12924	1	C	A	A	20	20	PRG4	A	2	2
TPR	7175	broad.mit.edu	37	1	186303582	186303582	+	Missense_Mutation	SNP	A	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186303582A>G	uc001grv.2	-	36	5354	c.5057T>C	c.(5056-5058)ATG>ACG	p.M1686T		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1686					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---	capture		Missense_Mutation	SNP	186303582	186303582	16960	1	A	G	G	8	8	TPR	G	4	4
ASPM	259266	broad.mit.edu	37	1	197074167	197074167	+	Missense_Mutation	SNP	C	A	A	rs143092798		TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197074167C>A	uc001gtu.2	-	18	4471	c.4214G>T	c.(4213-4215)CGT>CTT	p.R1405L	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1405	IQ 2.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---	capture		Missense_Mutation	SNP	197074167	197074167	1075	1	C	A	A	19	19	ASPM	A	1	1
PLEKHA6	22874	broad.mit.edu	37	1	204226822	204226822	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204226822C>A	uc001hau.2	-	9	1500	c.1183G>T	c.(1183-1185)GCC>TCC	p.A395S	PLEKHA6_uc009xaw.1_Missense_Mutation_p.A19S|PLEKHA6_uc009xax.1_Missense_Mutation_p.A19S|PLEKHA6_uc009xay.1_Missense_Mutation_p.A19S|PLEKHA6_uc009xaz.1_Missense_Mutation_p.A19S|PLEKHA6_uc009xba.1_Missense_Mutation_p.A19S|PLEKHA6_uc009xbb.1_Missense_Mutation_p.A19S|PLEKHA6_uc009xbc.1_Missense_Mutation_p.A19S	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	395										ovary(3)|pancreas(1)	4	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)															---	---	---	---	capture		Missense_Mutation	SNP	204226822	204226822	12486	1	C	A	A	25	25	PLEKHA6	A	2	2
USH2A	7399	broad.mit.edu	37	1	216262426	216262426	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216262426C>A	uc001hku.1	-	23	5201	c.4814G>T	c.(4813-4815)GGA>GTA	p.G1605V		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1605	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)			---	---	---	---	capture		Missense_Mutation	SNP	216262426	216262426	17598	1	C	A	A	30	30	USH2A	A	2	2
WDR26	80232	broad.mit.edu	37	1	224577560	224577560	+	Nonsense_Mutation	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:224577560C>A	uc001hop.3	-	14	1888	c.1522G>T	c.(1522-1524)GAA>TAA	p.E508*	WDR26_uc001hoq.3_Nonsense_Mutation_p.E492*|WDR26_uc010pvh.1_Nonsense_Mutation_p.E215*	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN	WD repeat domain 26 isoform a	655						cytoplasm|nucleus					0				GBM - Glioblastoma multiforme(131;0.0104)														---	---	---	---	capture		Nonsense_Mutation	SNP	224577560	224577560	17856	1	C	A	A	30	30	WDR26	A	5	2
OR2G3	81469	broad.mit.edu	37	1	247769664	247769664	+	Nonsense_Mutation	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247769664C>A	uc010pyz.1	+	1	777	c.777C>A	c.(775-777)TAC>TAA	p.Y259*		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	259	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)															---	---	---	---	capture		Nonsense_Mutation	SNP	247769664	247769664	11405	1	C	A	A	18	18	OR2G3	A	5	2
OR2M3	127062	broad.mit.edu	37	1	248367022	248367022	+	Missense_Mutation	SNP	A	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248367022A>G	uc010pzg.1	+	1	653	c.653A>G	c.(652-654)TAT>TGT	p.Y218C		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	218	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	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)															---	---	---	---	capture		Missense_Mutation	SNP	248367022	248367022	11417	1	A	G	G	16	16	OR2M3	G	4	4
OR2T12	127064	broad.mit.edu	37	1	248457927	248457927	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248457927C>A	uc010pzj.1	-	1	954	c.954G>T	c.(952-954)AGG>AGT	p.R318S		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	318	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	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;0.0201)															---	---	---	---	capture		Missense_Mutation	SNP	248457927	248457927	11425	1	C	A	A	18	18	OR2T12	A	2	2
OR2T4	127074	broad.mit.edu	37	1	248525564	248525564	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248525564G>A	uc001ieh.1	+	1	682	c.682G>A	c.(682-684)GAG>AAG	p.E228K		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	228	Helical; Name=5; (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)															---	---	---	---	capture		Missense_Mutation	SNP	248525564	248525564	11433	1	G	A	A	45	45	OR2T4	A	2	2
MYO3A	53904	broad.mit.edu	37	10	26409611	26409611	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:26409611G>T	uc001isn.2	+	18	2143	c.1783G>T	c.(1783-1785)GGT>TGT	p.G595C	MYO3A_uc009xko.1_Missense_Mutation_p.G595C|MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	595	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18																		---	---	---	---	capture		Missense_Mutation	SNP	26409611	26409611	10471	10	G	T	T	47	47	MYO3A	T	2	2
SVIL	6840	broad.mit.edu	37	10	29815957	29815957	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:29815957C>A	uc001iut.1	-	13	3028	c.2275G>T	c.(2275-2277)GGC>TGC	p.G759C	SVIL_uc001iuu.1_Intron	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	759					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)																---	---	---	---	capture		Missense_Mutation	SNP	29815957	29815957	15941	10	C	A	A	22	22	SVIL	A	2	2
SEC31B	25956	broad.mit.edu	37	10	102257543	102257543	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102257543G>T	uc001krc.1	-	16	1973	c.1871C>A	c.(1870-1872)GCC>GAC	p.A624D	SEC31B_uc010qpo.1_Missense_Mutation_p.A623D|SEC31B_uc001krd.1_Missense_Mutation_p.A161D|SEC31B_uc001krf.1_Missense_Mutation_p.A161D|SEC31B_uc001kre.1_Missense_Mutation_p.A161D|SEC31B_uc001krg.1_Missense_Mutation_p.A193D	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	624					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)														---	---	---	---	capture		Missense_Mutation	SNP	102257543	102257543	14485	10	G	T	T	42	42	SEC31B	T	2	2
PDCD11	22984	broad.mit.edu	37	10	105185125	105185125	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105185125C>T	uc001kwy.1	+	20	3235	c.3148C>T	c.(3148-3150)CAT>TAT	p.H1050Y		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1050	S1 motif 9.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)														---	---	---	---	capture		Missense_Mutation	SNP	105185125	105185125	12038	10	C	T	T	21	21	PDCD11	T	2	2
INPP5A	3632	broad.mit.edu	37	10	134563340	134563340	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:134563340C>A	uc001llp.2	+	11	1142	c.894C>A	c.(892-894)AAC>AAA	p.N298K	INPP5A_uc001llo.1_Missense_Mutation_p.N298K|INPP5A_uc001llq.2_Intron	NM_005539	NP_005530	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase A	298					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			skin(1)	1		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)														---	---	---	---	capture		Missense_Mutation	SNP	134563340	134563340	8055	10	C	A	A	19	19	INPP5A	A	1	1
CTSD	1509	broad.mit.edu	37	11	1775093	1775093	+	Silent	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1775093C>A	uc001luc.1	-	8	1144	c.1011G>T	c.(1009-1011)GCG>GCT	p.A337A	CTSD_uc009yda.1_RNA	NM_001909	NP_001900	P07339	CATD_HUMAN	cathepsin D preproprotein	337					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity				0		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---	capture		Silent	SNP	1775093	1775093	4191	11	C	A	A	31	31	CTSD	A	1	1
OR56B4	196335	broad.mit.edu	37	11	6129835	6129835	+	Missense_Mutation	SNP	T	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6129835T>A	uc010qzx.1	+	1	827	c.827T>A	c.(826-828)ATT>AAT	p.I276N		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B,	276	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Missense_Mutation	SNP	6129835	6129835	11548	11	T	A	A	52	52	OR56B4	A	4	4
NLRP14	338323	broad.mit.edu	37	11	7064865	7064865	+	Silent	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7064865G>A	uc001mfb.1	+	4	1931	c.1608G>A	c.(1606-1608)TTG>TTA	p.L536L		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	536					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)														---	---	---	---	capture		Silent	SNP	7064865	7064865	10879	11	G	A	A	45	45	NLRP14	A	2	2
LRRC4C	57689	broad.mit.edu	37	11	40136672	40136672	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:40136672C>T	uc001mxa.1	-	2	3135	c.1171G>A	c.(1171-1173)GGA>AGA	p.G391R	LRRC4C_uc001mxc.1_Missense_Mutation_p.G387R|LRRC4C_uc001mxd.1_Missense_Mutation_p.G387R|LRRC4C_uc001mxb.1_Missense_Mutation_p.G387R	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	391	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|skin(3)|central_nervous_system(1)	8		all_lung(304;0.0575)|Lung NSC(402;0.138)																---	---	---	---	capture		Missense_Mutation	SNP	40136672	40136672	9383	11	C	T	T	21	21	LRRC4C	T	2	2
OR5I1	10798	broad.mit.edu	37	11	55703454	55703454	+	Silent	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55703454G>T	uc010ris.1	-	1	423	c.423C>A	c.(421-423)GGC>GGA	p.G141G		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	141	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	55703454	55703454	11574	11	G	T	T	46	46	OR5I1	T	2	2
OR5M8	219484	broad.mit.edu	37	11	56258068	56258068	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56258068C>T	uc001nix.1	-	1	779	c.779G>A	c.(778-780)AGA>AAA	p.R260K		NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M,	260	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	Esophageal squamous(21;0.00352)																	---	---	---	---	capture		Missense_Mutation	SNP	56258068	56258068	11586	11	C	T	T	32	32	OR5M8	T	2	2
LRRC55	219527	broad.mit.edu	37	11	56949949	56949949	+	Silent	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56949949G>A	uc001njl.1	+	1	729	c.582G>A	c.(580-582)CGG>CGA	p.R194R		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	164	LRR 4.					integral to membrane					0																		---	---	---	---	capture		Silent	SNP	56949949	56949949	9386	11	G	A	A	41	41	LRRC55	A	2	2
TNKS1BP1	85456	broad.mit.edu	37	11	57076303	57076303	+	Silent	SNP	T	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57076303T>A	uc001njr.2	-	5	4194	c.3882A>T	c.(3880-3882)GCA>GCT	p.A1294A	TNKS1BP1_uc001njs.2_Silent_p.A1294A|TNKS1BP1_uc009ymd.1_Silent_p.A745A	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1294	Gly-rich.|Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)																---	---	---	---	capture		Silent	SNP	57076303	57076303	16861	11	T	A	A	55	55	TNKS1BP1	A	4	4
DAGLA	747	broad.mit.edu	37	11	61498817	61498817	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61498817G>A	uc001nsa.2	+	9	989	c.878G>A	c.(877-879)TGC>TAC	p.C293Y		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	293	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)														---	---	---	---	capture		Missense_Mutation	SNP	61498817	61498817	4393	11	G	A	A	46	46	DAGLA	A	2	2
P2RY2	5029	broad.mit.edu	37	11	72945945	72945945	+	Silent	SNP	C	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:72945945C>T	uc001otj.2	+	3	1074	c.741C>T	c.(739-741)ATC>ATT	p.I247I	P2RY2_uc001otk.2_Silent_p.I247I|P2RY2_uc001otl.2_Silent_p.I247I	NM_002564	NP_002555	P41231	P2RY2_HUMAN	purinergic receptor P2Y2	247	Helical; Name=6; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(1)|skin(1)	4					Suramin(DB04786)													---	---	---	---	capture		Silent	SNP	72945945	72945945	11765	11	C	T	T	31	31	P2RY2	T	1	1
FAT3	120114	broad.mit.edu	37	11	92577249	92577249	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92577249G>C	uc001pdj.3	+	18	10733	c.10716G>C	c.(10714-10716)AAG>AAC	p.K3572N	FAT3_uc001pdi.3_Missense_Mutation_p.K12N	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3572	Cadherin 33.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)													TCGA Ovarian(4;0.039)			---	---	---	---	capture		Missense_Mutation	SNP	92577249	92577249	5927	11	G	C	C	33	33	FAT3	C	3	3
SLC36A4	120103	broad.mit.edu	37	11	92895910	92895910	+	Silent	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92895910G>A	uc001pdn.2	-	9	1096	c.999C>T	c.(997-999)ATC>ATT	p.I333I	SLC36A4_uc001pdm.2_Silent_p.I198I	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid	333					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity	p.I333M(1)		ovary(2)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)																---	---	---	---	capture		Silent	SNP	92895910	92895910	15093	11	G	A	A	45	45	SLC36A4	A	2	2
SLC36A4	120103	broad.mit.edu	37	11	92901139	92901139	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92901139G>A	uc001pdn.2	-	7	836	c.739C>T	c.(739-741)CTT>TTT	p.L247F	SLC36A4_uc001pdm.2_Missense_Mutation_p.L112F	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid	247	Helical; (Potential).				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)																---	---	---	---	capture		Missense_Mutation	SNP	92901139	92901139	15093	11	G	A	A	33	33	SLC36A4	A	2	2
C11orf54	28970	broad.mit.edu	37	11	93483519	93483519	+	Silent	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:93483519G>A	uc009ywi.2	+	4	394	c.63G>A	c.(61-63)CAG>CAA	p.Q21Q	C11orf54_uc001pee.1_Silent_p.Q21Q|C11orf54_uc001pef.2_Silent_p.Q21Q|C11orf54_uc001peg.2_Silent_p.Q21Q|C11orf54_uc001peh.2_Silent_p.Q21Q|C11orf54_uc001pei.2_Silent_p.Q2Q|C11orf54_uc001pej.2_Silent_p.Q2Q	NM_014039	NP_054758	Q9H0W9	CK054_HUMAN	hypothetical protein LOC28970	21						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding				0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)																---	---	---	---	capture		Silent	SNP	93483519	93483519	1688	11	G	A	A	33	33	C11orf54	A	2	2
C11orf54	28970	broad.mit.edu	37	11	93486866	93486866	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:93486866G>T	uc009ywi.2	+	5	504	c.173G>T	c.(172-174)AGA>ATA	p.R58I	C11orf54_uc001pee.1_Missense_Mutation_p.R58I|C11orf54_uc001pef.2_Missense_Mutation_p.R58I|C11orf54_uc001peg.2_Missense_Mutation_p.R58I|C11orf54_uc001peh.2_Missense_Mutation_p.R58I|C11orf54_uc001pei.2_Missense_Mutation_p.R39I|C11orf54_uc001pej.2_Missense_Mutation_p.R39I|C11orf54_uc001pek.2_5'UTR	NM_014039	NP_054758	Q9H0W9	CK054_HUMAN	hypothetical protein LOC28970	58						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding				0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)																---	---	---	---	capture		Missense_Mutation	SNP	93486866	93486866	1688	11	G	T	T	33	33	C11orf54	T	2	2
C11orf54	28970	broad.mit.edu	37	11	93487108	93487108	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:93487108G>A	uc009ywi.2	+	6	566	c.235G>A	c.(235-237)GAT>AAT	p.D79N	C11orf54_uc001pee.1_Missense_Mutation_p.D79N|C11orf54_uc001pef.2_Missense_Mutation_p.D79N|C11orf54_uc001peg.2_Missense_Mutation_p.D79N|C11orf54_uc001peh.2_Missense_Mutation_p.D79N|C11orf54_uc001pei.2_Missense_Mutation_p.D60N|C11orf54_uc001pej.2_Missense_Mutation_p.D60N|C11orf54_uc001pek.2_5'UTR	NM_014039	NP_054758	Q9H0W9	CK054_HUMAN	hypothetical protein LOC28970	79						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding				0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)																---	---	---	---	capture		Missense_Mutation	SNP	93487108	93487108	1688	11	G	A	A	45	45	C11orf54	A	2	2
PANX1	24145	broad.mit.edu	37	11	93862630	93862630	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:93862630C>G	uc001per.2	+	1	537	c.152C>G	c.(151-153)TCG>TGG	p.S51W	uc001pen.1_5'Flank|PANX1_uc001peq.2_Missense_Mutation_p.S51W	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	pannexin 1	51	Helical; (Potential).				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)																---	---	---	---	capture		Missense_Mutation	SNP	93862630	93862630	11837	11	C	G	G	31	31	PANX1	G	3	3
PANX1	24145	broad.mit.edu	37	11	93862640	93862640	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:93862640C>A	uc001per.2	+	1	547	c.162C>A	c.(160-162)TTC>TTA	p.F54L	uc001pen.1_5'Flank|PANX1_uc001peq.2_Missense_Mutation_p.F54L	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	pannexin 1	54	Helical; (Potential).				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)																---	---	---	---	capture		Missense_Mutation	SNP	93862640	93862640	11837	11	C	A	A	31	31	PANX1	A	1	1
CASP4	837	broad.mit.edu	37	11	104825679	104825679	+	Missense_Mutation	SNP	T	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:104825679T>A	uc001pid.1	-	2	130	c.57A>T	c.(55-57)AAA>AAT	p.K19N	CASP4_uc001pib.1_Translation_Start_Site|CASP4_uc009yxg.1_Translation_Start_Site|CASP4_uc010rux.1_Missense_Mutation_p.K19N|CASP4_uc010ruy.1_Missense_Mutation_p.K19N	NM_001225	NP_001216	P49662	CASP4_HUMAN	caspase 4 isoform alpha precursor	19	CARD.				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			lung(2)|ovary(1)|skin(1)	4		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)														---	---	---	---	capture		Missense_Mutation	SNP	104825679	104825679	2792	11	T	A	A	56	56	CASP4	A	4	4
DIXDC1	85458	broad.mit.edu	37	11	111866262	111866262	+	Nonsense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:111866262G>T	uc001pml.2	+	17	1960	c.1663G>T	c.(1663-1665)GAG>TAG	p.E555*	DIXDC1_uc001pmm.2_Nonsense_Mutation_p.E344*|DIXDC1_uc001pmn.2_Nonsense_Mutation_p.E261*|DIXDC1_uc010rwq.1_Nonsense_Mutation_p.E220*	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	DIX domain containing 1 isoform a	555					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			ovary(1)	1		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)														---	---	---	---	capture		Nonsense_Mutation	SNP	111866262	111866262	4720	11	G	T	T	41	41	DIXDC1	T	5	2
NCAM1	4684	broad.mit.edu	37	11	113103955	113103955	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113103955G>T	uc009yyq.1	+	14	2027	c.1333G>T	c.(1333-1335)GGG>TGG	p.G445W		NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	537	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)														---	---	---	---	capture		Missense_Mutation	SNP	113103955	113103955	10601	11	G	T	T	47	47	NCAM1	T	2	2
TMPRSS13	84000	broad.mit.edu	37	11	117787940	117787940	+	Silent	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117787940C>A	uc001prs.1	-	3	594	c.501G>T	c.(499-501)CCG>CCT	p.P167P	TMPRSS13_uc009yzr.1_Intron|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.1_Silent_p.P167P	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	162	Helical; Signal-anchor for type II membrane protein; (Potential).				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			pancreas(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)														---	---	---	---	capture		Silent	SNP	117787940	117787940	16786	11	C	A	A	27	27	TMPRSS13	A	1	1
KDM5A	5927	broad.mit.edu	37	12	401958	401958	+	Silent	SNP	T	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:401958T>G	uc001qif.1	-	27	5196	c.4833A>C	c.(4831-4833)GCA>GCC	p.A1611A	KDM5A_uc001qie.1_Silent_p.A1616A	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	1611	PHD-type 3.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3								T 	NUP98	AML								---	---	---	---	capture		Silent	SNP	401958	401958	8439	12	T	G	G	55	55	KDM5A	G	4	4
APOBEC1	339	broad.mit.edu	37	12	7805307	7805307	+	Missense_Mutation	SNP	T	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7805307T>C	uc001qtb.2	-	3	203	c.169A>G	c.(169-171)AAC>GAC	p.N57D	APOBEC1_uc001qtc.2_Missense_Mutation_p.N12D|APOBEC1_uc010sgf.1_Missense_Mutation_p.N57D	NM_001644	NP_001635	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme	57					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	7805307	7805307	798	12	T	C	C	64	64	APOBEC1	C	4	4
RIMKLB	57494	broad.mit.edu	37	12	8926044	8926044	+	Silent	SNP	C	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8926044C>G	uc001quu.2	+	6	1076	c.825C>G	c.(823-825)GTC>GTG	p.V275V	RIMKLB_uc009zgf.1_RNA|RIMKLB_uc001qux.2_Silent_p.V275V|RIMKLB_uc010sgl.1_Silent_p.V275V|RIMKLB_uc001quw.2_Silent_p.V275V	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family	275	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0																		---	---	---	---	capture		Silent	SNP	8926044	8926044	13843	12	C	G	G	32	32	RIMKLB	G	3	3
A2ML1	144568	broad.mit.edu	37	12	8998722	8998722	+	Silent	SNP	C	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8998722C>T	uc001quz.3	+	14	1685	c.1587C>T	c.(1585-1587)GCC>GCT	p.A529A	A2ML1_uc001qva.1_Silent_p.A109A|A2ML1_uc010sgm.1_Silent_p.A29A	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	373						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3																		---	---	---	---	capture		Silent	SNP	8998722	8998722	6	12	C	T	T	22	22	A2ML1	T	2	2
PZP	5858	broad.mit.edu	37	12	9349191	9349191	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9349191C>A	uc001qvl.2	-	9	987	c.958G>T	c.(958-960)GCC>TCC	p.A320S	PZP_uc009zgl.2_Missense_Mutation_p.A189S	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	9349191	9349191	13327	12	C	A	A	28	28	PZP	A	2	2
RERG	85004	broad.mit.edu	37	12	15262093	15262093	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:15262093G>T	uc001rcs.2	-	4	691	c.551C>A	c.(550-552)ACG>AAG	p.T184K	RERG_uc001rct.2_Missense_Mutation_p.T184K|RERG_uc010shu.1_Missense_Mutation_p.T165K	NM_032918	NP_116307	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	184					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			lung(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	15262093	15262093	13701	12	G	T	T	40	40	RERG	T	1	1
SSPN	8082	broad.mit.edu	37	12	26383680	26383680	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26383680G>T	uc001rhe.2	+	3	503	c.403G>T	c.(403-405)GTC>TTC	p.V135F	SSPN_uc001rhd.2_Missense_Mutation_p.V32F|SSPN_uc009zjf.2_Intron|SSPN_uc001rhf.3_Intron	NM_005086	NP_005077	Q14714	SSPN_HUMAN	sarcospan isoform 1	135	Helical; (Potential).				cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle					0	Colorectal(261;0.0847)																	---	---	---	---	capture		Missense_Mutation	SNP	26383680	26383680	15704	12	G	T	T	44	44	SSPN	T	2	2
SFRS2IP	9169	broad.mit.edu	37	12	46320209	46320209	+	Missense_Mutation	SNP	T	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46320209T>C	uc001rox.2	-	11	3562	c.3275A>G	c.(3274-3276)CAG>CGG	p.Q1092R	SFRS2IP_uc001row.2_Missense_Mutation_p.Q777R|SFRS2IP_uc001roy.1_Missense_Mutation_p.Q1166R	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	1092					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)														---	---	---	---	capture		Missense_Mutation	SNP	46320209	46320209	14667	12	T	C	C	55	55	SFRS2IP	C	4	4
NCKAP1L	3071	broad.mit.edu	37	12	54910050	54910050	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54910050G>T	uc001sgc.3	+	10	1048	c.969G>T	c.(967-969)AAG>AAT	p.K323N	NCKAP1L_uc010sox.1_Translation_Start_Site|NCKAP1L_uc010soy.1_Missense_Mutation_p.K273N	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	323					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	54910050	54910050	10621	12	G	T	T	35	35	NCKAP1L	T	2	2
OR6C68	403284	broad.mit.edu	37	12	55886651	55886651	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:55886651C>A	uc010spo.1	+	1	505	c.505C>A	c.(505-507)CTA>ATA	p.L169I		NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C,	164	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	55886651	55886651	11606	12	C	A	A	32	32	OR6C68	A	2	2
MIP	4284	broad.mit.edu	37	12	56845175	56845175	+	Silent	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56845175G>T	uc001slh.2	-	4	713	c.681C>A	c.(679-681)CTC>CTA	p.L227L	TIMELESS_uc001slf.2_5'Flank|TIMELESS_uc001slg.2_5'Flank	NM_012064	NP_036196	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	227	Cytoplasmic (By similarity).				response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			skin(1)	1																		---	---	---	---	capture		Silent	SNP	56845175	56845175	9981	12	G	T	T	45	45	MIP	T	2	2
HELB	92797	broad.mit.edu	37	12	66725399	66725399	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:66725399G>T	uc001sti.2	+	12	3164	c.3136G>T	c.(3136-3138)GAT>TAT	p.D1046Y	HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	1046					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)														---	---	---	---	capture		Missense_Mutation	SNP	66725399	66725399	7328	12	G	T	T	45	45	HELB	T	2	2
ZFC3H1	196441	broad.mit.edu	37	12	72030283	72030283	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:72030283C>T	uc001swo.2	-	9	2446	c.2087G>A	c.(2086-2088)CGA>CAA	p.R696Q		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	696					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	72030283	72030283	18221	12	C	T	T	31	31	ZFC3H1	T	1	1
ANKS1B	56899	broad.mit.edu	37	12	99837495	99837495	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:99837495G>C	uc001tge.1	-	11	1948	c.1531C>G	c.(1531-1533)CCT>GCT	p.P511A	ANKS1B_uc001tgf.1_Missense_Mutation_p.P91A|ANKS1B_uc009ztt.1_Missense_Mutation_p.P477A	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	511						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)														---	---	---	---	capture		Missense_Mutation	SNP	99837495	99837495	697	12	G	C	C	43	43	ANKS1B	C	3	3
SCYL2	55681	broad.mit.edu	37	12	100729439	100729439	+	Silent	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100729439G>A	uc001thn.2	+	15	1949	c.1899G>A	c.(1897-1899)GAG>GAA	p.E633E	SCYL2_uc001thm.1_Silent_p.E633E	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 protein	633					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			lung(3)|ovary(2)|skin(1)	6																		---	---	---	---	capture		Silent	SNP	100729439	100729439	14433	12	G	A	A	35	35	SCYL2	A	2	2
PWP1	11137	broad.mit.edu	37	12	108105954	108105954	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:108105954G>C	uc001tmo.1	+	15	1550	c.1463G>C	c.(1462-1464)GGC>GCC	p.G488A	PWP1_uc009zuu.1_3'UTR	NM_007062	NP_008993	Q13610	PWP1_HUMAN	periodic tryptophan protein 1	488					transcription, DNA-dependent	nucleus					0																		---	---	---	---	capture		Missense_Mutation	SNP	108105954	108105954	13301	12	G	C	C	42	42	PWP1	C	3	3
CCDC63	160762	broad.mit.edu	37	12	111311754	111311754	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:111311754C>T	uc001trv.1	+	5	673	c.478C>T	c.(478-480)CGT>TGT	p.R160C	CCDC63_uc009zvt.1_Missense_Mutation_p.R75C|CCDC63_uc010sye.1_Missense_Mutation_p.R120C|CCDC63_uc001trw.1_Missense_Mutation_p.R75C	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	160	Potential.									skin(6)|ovary(1)|pancreas(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	111311754	111311754	2957	12	C	T	T	23	23	CCDC63	T	1	1
RASAL1	8437	broad.mit.edu	37	12	113543637	113543637	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113543637C>A	uc001tum.1	-	17	2002	c.1709G>T	c.(1708-1710)GGC>GTC	p.G570V	RASAL1_uc010syp.1_Missense_Mutation_p.G571V|RASAL1_uc001tul.2_Missense_Mutation_p.G570V|RASAL1_uc001tun.1_Missense_Mutation_p.G572V|RASAL1_uc010syq.1_Missense_Mutation_p.G571V|RASAL1_uc001tuo.3_Missense_Mutation_p.G571V	NM_004658	NP_004649	O95294	RASL1_HUMAN	RAS protein activator like 1	570	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			ovary(2)|skin(2)	4																		---	---	---	---	capture		Missense_Mutation	SNP	113543637	113543637	13524	12	C	A	A	26	26	RASAL1	A	2	2
SACS	26278	broad.mit.edu	37	13	23908856	23908856	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:23908856C>A	uc001uon.2	-	10	9748	c.9159G>T	c.(9157-9159)GAG>GAT	p.E3053D	SACS_uc001uoo.2_Missense_Mutation_p.E2906D|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3053					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)														---	---	---	---	capture		Missense_Mutation	SNP	23908856	23908856	14284	13	C	A	A	32	32	SACS	A	2	2
PABPC3	5042	broad.mit.edu	37	13	25670679	25670679	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25670679C>G	uc001upy.2	+	1	404	c.343C>G	c.(343-345)CTG>GTG	p.L115V		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	115	RRM 2.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)														---	---	---	---	capture		Missense_Mutation	SNP	25670679	25670679	11780	13	C	G	G	20	20	PABPC3	G	3	3
MTUS2	23281	broad.mit.edu	37	13	29599636	29599636	+	Silent	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:29599636G>A	uc001usl.3	+	1	889	c.831G>A	c.(829-831)CTG>CTA	p.L277L		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	267						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0																		---	---	---	---	capture		Silent	SNP	29599636	29599636	10359	13	G	A	A	46	46	MTUS2	A	2	2
FAM155A	728215	broad.mit.edu	37	13	108518491	108518491	+	Silent	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:108518491G>T	uc001vql.2	-	1	970	c.454C>A	c.(454-456)CGG>AGG	p.R152R		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	152						integral to membrane	binding			skin(1)	1																		---	---	---	---	capture		Silent	SNP	108518491	108518491	5663	13	G	T	T	39	39	FAM155A	T	1	1
TFDP1	7027	broad.mit.edu	37	13	114290937	114290937	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:114290937G>C	uc001vtw.2	+	10	1140	c.928G>C	c.(928-930)GAG>CAG	p.E310Q	TFDP1_uc010tkd.1_Missense_Mutation_p.E215Q|TFDP1_uc010tke.1_Missense_Mutation_p.E215Q|TFDP1_uc001vty.3_Missense_Mutation_p.E310Q|TFDP1_uc001vtx.2_Missense_Mutation_p.E190Q	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	transcription factor Dp-1	310	DCB2.|Enhances binding of RB protein to E2F.				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			lung(4)|ovary(2)|skin(1)	7	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)												TSP Lung(29;0.18)			---	---	---	---	capture		Missense_Mutation	SNP	114290937	114290937	16325	13	G	C	C	41	41	TFDP1	C	3	3
PAX9	5083	broad.mit.edu	37	14	37132593	37132593	+	Missense_Mutation	SNP	A	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:37132593A>G	uc001wty.3	+	3	1213	c.496A>G	c.(496-498)ATC>GTC	p.I166V	PAX9_uc010amq.2_5'Flank	NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	166					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)														---	---	---	---	capture		Missense_Mutation	SNP	37132593	37132593	11906	14	A	G	G	16	16	PAX9	G	4	4
SYT16	83851	broad.mit.edu	37	14	62547935	62547935	+	Silent	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:62547935G>A	uc001xfu.1	+	4	1574	c.1377G>A	c.(1375-1377)CTG>CTA	p.L459L	SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_Silent_p.L17L	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	459										central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)														---	---	---	---	capture		Silent	SNP	62547935	62547935	15993	14	G	A	A	46	46	SYT16	A	2	2
ADAM20	8748	broad.mit.edu	37	14	70991290	70991290	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:70991290G>A	uc001xme.2	-	2	580	c.335C>T	c.(334-336)TCC>TTC	p.S112F		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	62					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)														---	---	---	---	capture		Missense_Mutation	SNP	70991290	70991290	243	14	G	A	A	41	41	ADAM20	A	2	2
PROX2	283571	broad.mit.edu	37	14	75321889	75321889	+	Silent	SNP	C	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75321889C>T	uc001xqr.1	-	4	1725	c.1725G>A	c.(1723-1725)TCG>TCA	p.S575S	uc001xqp.1_5'Flank|PROX2_uc001xqq.1_Silent_p.S274S	NM_001080408	NP_001073877	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	575	Prospero-like.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)														---	---	---	---	capture		Silent	SNP	75321889	75321889	13004	14	C	T	T	31	31	PROX2	T	1	1
SPTLC2	9517	broad.mit.edu	37	14	78021768	78021768	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:78021768C>A	uc001xub.2	-	8	1239	c.1051G>T	c.(1051-1053)GCC>TCC	p.A351S		NM_004863	NP_004854	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base	351						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			upper_aerodigestive_tract(1)|ovary(1)	2			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)													---	---	---	---	capture		Missense_Mutation	SNP	78021768	78021768	15638	14	C	A	A	27	27	SPTLC2	A	1	1
NDN	4692	broad.mit.edu	37	15	23931528	23931528	+	Silent	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23931528C>A	uc001ywk.2	-	1	923	c.837G>T	c.(835-837)CTG>CTT	p.L279L		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	279	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)										Prader-Willi_syndrome				---	---	---	---	capture		Silent	SNP	23931528	23931528	10646	15	C	A	A	21	21	NDN	A	2	2
SHC4	399694	broad.mit.edu	37	15	49254907	49254907	+	Silent	SNP	C	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49254907C>T	uc001zxb.1	-	1	735	c.306G>A	c.(304-306)CTG>CTA	p.L102L		NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	rai-like protein	102	CH2.				intracellular signal transduction	cell junction|postsynaptic membrane				ovary(3)|pancreas(2)	5		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)														---	---	---	---	capture		Silent	SNP	49254907	49254907	14765	15	C	T	T	29	29	SHC4	T	2	2
GALK2	2585	broad.mit.edu	37	15	49584700	49584700	+	Silent	SNP	C	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49584700C>G	uc001zxj.1	+	8	1031	c.933C>G	c.(931-933)CTC>CTG	p.L311L	GALK2_uc001zxi.1_Silent_p.L300L|GALK2_uc010ufb.1_Silent_p.L287L|GALK2_uc001zxk.2_RNA|GALK2_uc010ufc.1_Silent_p.L287L	NM_002044	NP_002035	Q01415	GALK2_HUMAN	galactokinase 2 isoform 1	311					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity			breast(1)	1		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)														---	---	---	---	capture		Silent	SNP	49584700	49584700	6468	15	C	G	G	30	30	GALK2	G	3	3
AP4E1	23431	broad.mit.edu	37	15	51217296	51217296	+	Missense_Mutation	SNP	A	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51217296A>G	uc001zyx.1	+	5	452	c.422A>G	c.(421-423)GAT>GGT	p.D141G	AP4E1_uc010ufi.1_Missense_Mutation_p.D141G|AP4E1_uc010ufj.1_RNA|AP4E1_uc010ufk.1_RNA	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1	141					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity				0				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)														---	---	---	---	capture		Missense_Mutation	SNP	51217296	51217296	762	15	A	G	G	12	12	AP4E1	G	4	4
MYO5A	4644	broad.mit.edu	37	15	52659307	52659307	+	Silent	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52659307C>A	uc002aby.2	-	23	3325	c.3081G>T	c.(3079-3081)CTG>CTT	p.L1027L	MYO5A_uc002abx.3_Silent_p.L1027L|MYO5A_uc010uge.1_Silent_p.L896L	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	1027	Potential.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)														---	---	---	---	capture		Silent	SNP	52659307	52659307	10473	15	C	A	A	29	29	MYO5A	A	2	2
GCOM1	145781	broad.mit.edu	37	15	57976616	57976616	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:57976616C>T	uc002aei.2	+	13	1440	c.1321C>T	c.(1321-1323)CGT>TGT	p.R441C	GCOM1_uc002aej.2_Missense_Mutation_p.R413C|GCOM1_uc002aek.2_Intron|GCOM1_uc002ael.2_RNA|GCOM1_uc002aem.2_Intron|GCOM1_uc002aeq.2_RNA|GCOM1_uc002aen.2_Intron|GCOM1_uc010bfy.2_Intron|GCOM1_uc002aeo.2_Intron|GCOM1_uc002aep.2_RNA|GCOM1_uc010bfx.2_Intron|GCOM1_uc002aer.1_RNA|GRINL1A_uc002aes.2_5'UTR	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	GRINL1A upstream protein isoform 7	441					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	57976616	57976616	6571	15	C	T	T	31	31	GCOM1	T	1	1
NEO1	4756	broad.mit.edu	37	15	73536809	73536809	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:73536809G>T	uc002avm.3	+	9	1718	c.1576G>T	c.(1576-1578)GCT>TCT	p.A526S	NEO1_uc010ukx.1_Missense_Mutation_p.A526S|NEO1_uc010uky.1_Missense_Mutation_p.A526S|NEO1_uc010ukz.1_5'UTR|NEO1_uc002avn.3_Missense_Mutation_p.A191S	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	526	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	73536809	73536809	10735	15	G	T	T	34	34	NEO1	T	2	2
MAN2A2	4122	broad.mit.edu	37	15	91448578	91448578	+	Missense_Mutation	SNP	A	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91448578A>T	uc010bnz.2	+	3	345	c.230A>T	c.(229-231)GAG>GTG	p.E77V	MAN2A2_uc010boa.2_Missense_Mutation_p.E119V|MAN2A2_uc002bqc.2_Missense_Mutation_p.E77V|MAN2A2_uc010uql.1_5'Flank|MAN2A2_uc010uqm.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	77	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)															---	---	---	---	capture		Missense_Mutation	SNP	91448578	91448578	9598	15	A	T	T	11	11	MAN2A2	T	4	4
MLST8	64223	broad.mit.edu	37	16	2256502	2256502	+	Silent	SNP	C	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2256502C>T	uc002coz.2	+	4	305	c.186C>T	c.(184-186)TAC>TAT	p.Y62Y	MLST8_uc002coy.2_Silent_p.Y62Y|MLST8_uc002cpa.2_5'UTR|MLST8_uc002cpb.2_Silent_p.Y61Y|MLST8_uc010uvx.1_5'UTR|MLST8_uc002cpc.2_Silent_p.Y62Y|MLST8_uc002cpd.2_5'UTR|MLST8_uc002cpe.2_Silent_p.Y62Y|MLST8_uc010uvy.1_Silent_p.Y62Y|MLST8_uc002cpg.2_Silent_p.Y81Y|MLST8_uc002cph.2_RNA|MLST8_uc002cpf.2_Silent_p.Y62Y	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN	G protein beta subunit-like	62	WD 2.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding				0																		---	---	---	---	capture		Silent	SNP	2256502	2256502	10024	16	C	T	T	18	18	MLST8	T	2	2
ACSM1	116285	broad.mit.edu	37	16	20673196	20673196	+	Splice_Site	SNP	C	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20673196C>G	uc002dhm.1	-	6	981	c.913_splice	c.e6-1	p.T305_splice	ACSM1_uc002dhn.1_Splice_Site|ACSM1_uc010bwg.1_Splice_Site_p.T305_splice	NM_052956	NP_443188			acyl-CoA synthetase medium-chain family member						benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---	capture		Splice_Site	SNP	20673196	20673196	183	16	C	G	G	32	32	ACSM1	G	5	3
ERN2	10595	broad.mit.edu	37	16	23722242	23722242	+	Missense_Mutation	SNP	A	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23722242A>T	uc002dma.3	-	2	504	c.335T>A	c.(334-336)CTG>CAG	p.L112Q	ERN2_uc010bxp.2_Missense_Mutation_p.L112Q|ERN2_uc010bxq.1_5'UTR	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signalling 2	64	Lumenal (Potential).				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)														---	---	---	---	capture		Missense_Mutation	SNP	23722242	23722242	5431	16	A	T	T	7	7	ERN2	T	4	4
RSPRY1	89970	broad.mit.edu	37	16	57265166	57265166	+	Silent	SNP	T	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57265166T>G	uc002elb.2	+	13	1742	c.1464T>G	c.(1462-1464)TCT>TCG	p.S488S	RSPRY1_uc002elc.2_Silent_p.S488S|RSPRY1_uc002eld.2_Silent_p.S488S	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	488						extracellular region	zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	57265166	57265166	14193	16	T	G	G	53	53	RSPRY1	G	4	4
CES8	283848	broad.mit.edu	37	16	67037456	67037456	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67037456G>T	uc002eqv.2	+	8	982	c.939G>T	c.(937-939)GAG>GAT	p.E313D	CES8_uc010vix.1_Missense_Mutation_p.E313D|CES8_uc002eqw.2_Missense_Mutation_p.E313D|CES8_uc002eqy.2_Missense_Mutation_p.E215D|CES8_uc002eqx.2_Missense_Mutation_p.E119D|CES8_uc010viy.1_Missense_Mutation_p.E219D|CES8_uc010viz.1_Missense_Mutation_p.E215D|CES8_uc002eqz.2_5'Flank	NM_173815	NP_776176	Q5XG92	EST4A_HUMAN	carboxylesterase 8 (putative)	313						extracellular region	carboxylesterase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	67037456	67037456	3406	16	G	T	T	35	35	CES8	T	2	2
PKD1L2	114780	broad.mit.edu	37	16	81183470	81183470	+	Silent	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81183470G>T	uc002fgh.1	-	28	4578	c.4578C>A	c.(4576-4578)TCC>TCA	p.S1526S	PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1526	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---	capture		Silent	SNP	81183470	81183470	12389	16	G	T	T	39	39	PKD1L2	T	1	1
TCF25	22980	broad.mit.edu	37	16	89964992	89964992	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89964992G>C	uc002fpb.2	+	10	1132	c.1050G>C	c.(1048-1050)CAG>CAC	p.Q350H	TCF25_uc002fpc.2_Missense_Mutation_p.Q115H	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	NULP1	350					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)														---	---	---	---	capture		Missense_Mutation	SNP	89964992	89964992	16219	16	G	C	C	33	33	TCF25	C	3	3
RPA1	6117	broad.mit.edu	37	17	1783860	1783860	+	Silent	SNP	A	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1783860A>G	uc002fto.2	+	12	1231	c.1116A>G	c.(1114-1116)AGA>AGG	p.R372R		NM_002945	NP_002936	P27694	RFA1_HUMAN	replication protein A1	372					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding				0													NER					---	---	---	---	capture		Silent	SNP	1783860	1783860	14015	17	A	G	G	10	10	RPA1	G	4	4
TP53	7157	broad.mit.edu	37	17	7578535	7578535	+	Missense_Mutation	SNP	T	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7578535T>C	uc002gim.2	-	5	589	c.395A>G	c.(394-396)AAG>AGG	p.K132R	TP53_uc002gig.1_Missense_Mutation_p.K132R|TP53_uc002gih.2_Missense_Mutation_p.K132R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.K132R|TP53_uc010cni.1_Missense_Mutation_p.K132R|TP53_uc002gij.2_Missense_Mutation_p.K132R|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.K39R|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.K93R	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	132	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		K -> T (in sporadic cancers; somatic mutation).|KM -> NL (in a sporadic cancer; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> R (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> Q (in sporadic cancers; somatic mutation).|K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.K132N(40)|p.K132R(32)|p.K132E(19)|p.K132Q(13)|p.K132M(9)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.K132T(4)|p.N131del(2)|p.N131fs*27(2)|p.K132*(2)|p.K132fs*38(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.K132W(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)			---	---	---	---	capture		Missense_Mutation	SNP	7578535	7578535	16923	17	T	C	C	56	56	TP53	C	4	4
MYH8	4626	broad.mit.edu	37	17	10297739	10297739	+	Silent	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10297739G>T	uc002gmm.2	-	35	5088	c.4993C>A	c.(4993-4995)CGG>AGG	p.R1665R	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1665	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11														Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				---	---	---	---	capture		Silent	SNP	10297739	10297739	10436	17	G	T	T	39	39	MYH8	T	1	1
TOP3A	7156	broad.mit.edu	37	17	18196039	18196039	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18196039C>A	uc002gsx.1	-	11	1430	c.1201G>T	c.(1201-1203)GGT>TGT	p.G401C	TOP3A_uc010cpz.1_5'Flank|TOP3A_uc010vxr.1_Intron|TOP3A_uc002gsw.1_Intron|TOP3A_uc010vxs.1_Missense_Mutation_p.G299C	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	401					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	18196039	18196039	16909	17	C	A	A	21	21	TOP3A	A	2	2
KRTAP4-5	85289	broad.mit.edu	37	17	39305619	39305619	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39305619G>T	uc002hwb.2	-	1	436	c.401C>A	c.(400-402)TCT>TAT	p.S134Y		NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	139	24.|27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)															---	---	---	---	capture		Missense_Mutation	SNP	39305619	39305619	8876	17	G	T	T	33	33	KRTAP4-5	T	2	2
ANKFN1	162282	broad.mit.edu	37	17	54450027	54450027	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:54450027G>A	uc002iun.1	+	6	666	c.631G>A	c.(631-633)GCA>ACA	p.A211T		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain	211	Potential.									large_intestine(1)|ovary(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	54450027	54450027	628	17	G	A	A	34	34	ANKFN1	A	2	2
CD300LD	100131439	broad.mit.edu	37	17	72584652	72584652	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72584652G>T	uc002jkz.2	-	2	406	c.377C>A	c.(376-378)CCA>CAA	p.P126Q	C17orf77_uc002jla.1_Intron	NM_001115152	NP_001108624	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d precursor	126	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	72584652	72584652	3128	17	G	T	T	47	47	CD300LD	T	2	2
HGS	9146	broad.mit.edu	37	17	79668078	79668078	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79668078C>T	uc002kbg.2	+	21	2217	c.2140C>T	c.(2140-2142)CTC>TTC	p.L714F	MRPL12_uc002kbh.1_5'Flank|SLC25A10_uc010wut.1_5'Flank	NM_004712	NP_004703	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine	714	Interaction with NF2.|Gln-rich.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)															---	---	---	---	capture		Missense_Mutation	SNP	79668078	79668078	7371	17	C	T	T	32	32	HGS	T	2	2
DLGAP1	9229	broad.mit.edu	37	18	3879542	3879542	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:3879542G>A	uc002kmf.2	-	1	594	c.527C>T	c.(526-528)GCG>GTG	p.A176V	DLGAP1_uc010wyz.1_Missense_Mutation_p.A176V|DLGAP1_uc002kmk.2_Missense_Mutation_p.A176V|uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	176					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)																---	---	---	---	capture		Missense_Mutation	SNP	3879542	3879542	4739	18	G	A	A	38	38	DLGAP1	A	1	1
DTNA	1837	broad.mit.edu	37	18	32418101	32418101	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:32418101G>C	uc010dmn.1	+	11	1139	c.1138G>C	c.(1138-1140)GCT>CCT	p.A380P	DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Intron|DTNA_uc002kxw.2_Intron|DTNA_uc010dmj.2_Intron|DTNA_uc002kxz.2_Intron|DTNA_uc002kxy.2_Intron|DTNA_uc010dml.2_Intron|DTNA_uc002kyb.3_Missense_Mutation_p.A377P|DTNA_uc010dmm.2_Missense_Mutation_p.A380P|DTNA_uc010xby.1_Intron|DTNA_uc010dmo.2_Intron|DTNA_uc002kyd.3_Intron|DTNA_uc010xbz.1_Missense_Mutation_p.A89P|DTNA_uc010xca.1_Intron|DTNA_uc002kye.2_Missense_Mutation_p.A59P	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	380					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	32418101	32418101	4973	18	G	C	C	42	42	DTNA	C	3	3
DTNA	1837	broad.mit.edu	37	18	32418763	32418763	+	Silent	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:32418763C>A	uc010dmn.1	+	12	1228	c.1227C>A	c.(1225-1227)ATC>ATA	p.I409I	DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Intron|DTNA_uc002kxw.2_Intron|DTNA_uc010dmj.2_Intron|DTNA_uc002kxz.2_Intron|DTNA_uc002kxy.2_Intron|DTNA_uc010dml.2_Intron|DTNA_uc002kyb.3_Silent_p.I406I|DTNA_uc010dmm.2_Silent_p.I409I|DTNA_uc010xby.1_Intron|DTNA_uc010dmo.2_Intron|DTNA_uc002kyd.3_Intron|DTNA_uc010xbz.1_Silent_p.I118I|DTNA_uc010xca.1_Intron|DTNA_uc002kye.2_Intron	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	409	Syntrophin-binding region.				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0																		---	---	---	---	capture		Silent	SNP	32418763	32418763	4973	18	C	A	A	31	31	DTNA	A	1	1
PIK3C3	5289	broad.mit.edu	37	18	39607454	39607454	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:39607454C>T	uc002lap.2	+	14	1590	c.1532C>T	c.(1531-1533)CCA>CTA	p.P511L	PIK3C3_uc010xcl.1_Missense_Mutation_p.P448L|PIK3C3_uc002laq.2_5'UTR	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	511					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			lung(8)|ovary(1)|breast(1)	10															TSP Lung(28;0.18)			---	---	---	---	capture		Missense_Mutation	SNP	39607454	39607454	12336	18	C	T	T	21	21	PIK3C3	T	2	2
RAX	30062	broad.mit.edu	37	18	56939713	56939713	+	Silent	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:56939713C>A	uc002lhx.2	-	2	610	c.423G>T	c.(421-423)ACG>ACT	p.T141T	RAX_uc010dpp.2_Intron	NM_013435	NP_038463	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	141	Homeobox.				visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)														---	---	---	---	capture		Silent	SNP	56939713	56939713	13557	18	C	A	A	31	31	RAX	A	1	1
DSEL	92126	broad.mit.edu	37	18	65178337	65178337	+	Missense_Mutation	SNP	T	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:65178337T>C	uc002lke.1	-	2	4763	c.3539A>G	c.(3538-3540)TAT>TGT	p.Y1180C		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1170						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)																---	---	---	---	capture		Missense_Mutation	SNP	65178337	65178337	4959	18	T	C	C	49	49	DSEL	C	4	4
UHRF1	29128	broad.mit.edu	37	19	4932887	4932887	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4932887G>A	uc002mbo.2	+	5	872	c.704G>A	c.(703-705)CGG>CAG	p.R235Q	UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.R248Q	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains	235					cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)														---	---	---	---	capture		Missense_Mutation	SNP	4932887	4932887	17525	19	G	A	A	39	39	UHRF1	A	1	1
TNFSF14	8740	broad.mit.edu	37	19	6669937	6669937	+	Silent	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6669937C>A	uc002mfk.1	-	2	526	c.144G>T	c.(142-144)GGG>GGT	p.G48G	TNFSF14_uc002mfj.1_Intron	NM_003807	NP_003798	O43557	TNF14_HUMAN	tumor necrosis factor ligand superfamily, member	48	Helical; Signal-anchor for type II membrane protein; (Potential).				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			skin(1)	1																		---	---	---	---	capture		Silent	SNP	6669937	6669937	16848	19	C	A	A	22	22	TNFSF14	A	2	2
MUC16	94025	broad.mit.edu	37	19	9056708	9056708	+	Silent	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9056708G>A	uc002mkp.2	-	3	30942	c.30738C>T	c.(30736-30738)TTC>TTT	p.F10246F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10248	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---	capture		Silent	SNP	9056708	9056708	10367	19	G	A	A	41	41	MUC16	A	2	2
MUC16	94025	broad.mit.edu	37	19	9060853	9060853	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9060853G>T	uc002mkp.2	-	3	26797	c.26593C>A	c.(26593-26595)CCT>ACT	p.P8865T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8867	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---	capture		Missense_Mutation	SNP	9060853	9060853	10367	19	G	T	T	44	44	MUC16	T	2	2
CCDC151	115948	broad.mit.edu	37	19	11537596	11537596	+	Silent	SNP	C	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11537596C>T	uc002mrs.2	-	5	764	c.621G>A	c.(619-621)CGG>CGA	p.R207R	CCDC151_uc002mrr.2_Silent_p.R142R|CCDC151_uc010dxz.2_Intron	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	207	Potential.									ovary(1)	1																		---	---	---	---	capture		Silent	SNP	11537596	11537596	2906	19	C	T	T	30	30	CCDC151	T	2	2
ZNF44	51710	broad.mit.edu	37	19	12383611	12383611	+	Missense_Mutation	SNP	A	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12383611A>T	uc010xmj.1	-	5	1808	c.1603T>A	c.(1603-1605)TCT>ACT	p.S535T	ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Missense_Mutation_p.S487T	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	zinc finger protein 44 isoform 1	535	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)														---	---	---	---	capture		Missense_Mutation	SNP	12383611	12383611	18505	19	A	T	T	9	9	ZNF44	T	4	4
C19orf57	79173	broad.mit.edu	37	19	14003963	14003963	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14003963G>C	uc002mxl.1	-	4	339	c.280C>G	c.(280-282)CCT>GCT	p.P94A	C19orf57_uc002mxk.1_5'Flank|C19orf57_uc002mxm.1_Missense_Mutation_p.P94A	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	hypothetical protein LOC79173	94					multicellular organismal development		protein binding			ovary(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(19;2e-21)															---	---	---	---	capture		Missense_Mutation	SNP	14003963	14003963	2003	19	G	C	C	41	41	C19orf57	C	3	3
NOTCH3	4854	broad.mit.edu	37	19	15271654	15271654	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15271654G>C	uc002nan.2	-	33	6861	c.6785C>G	c.(6784-6786)TCC>TGC	p.S2262C		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	2262	Cytoplasmic (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)															---	---	---	---	capture		Missense_Mutation	SNP	15271654	15271654	10953	19	G	C	C	41	41	NOTCH3	C	3	3
NWD1	284434	broad.mit.edu	37	19	16860592	16860592	+	Nonsense_Mutation	SNP	C	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16860592C>G	uc002neu.3	+	6	1561	c.1139C>G	c.(1138-1140)TCA>TGA	p.S380*	NWD1_uc002net.3_Nonsense_Mutation_p.S245*|NWD1_uc002nev.3_Nonsense_Mutation_p.S174*			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	380	NACHT.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7																		---	---	---	---	capture		Nonsense_Mutation	SNP	16860592	16860592	11186	19	C	G	G	29	29	NWD1	G	5	3
ZNF714	148206	broad.mit.edu	37	19	21299983	21299983	+	Silent	SNP	T	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21299983T>G	uc002npo.3	+	6	876	c.516T>G	c.(514-516)TCT>TCG	p.S172S	ZNF714_uc002npl.2_Silent_p.S17S|ZNF714_uc010ecp.1_Silent_p.S123S|ZNF714_uc002npn.2_RNA	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	capture		Silent	SNP	21299983	21299983	18714	19	T	G	G	56	56	ZNF714	G	4	4
ZNF507	22847	broad.mit.edu	37	19	32844259	32844259	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:32844259G>C	uc002nte.2	+	3	795	c.523G>C	c.(523-525)GTG>CTG	p.V175L	ZNF507_uc002ntc.2_Missense_Mutation_p.V175L|ZNF507_uc010xrn.1_Missense_Mutation_p.V175L|ZNF507_uc002ntd.2_Missense_Mutation_p.V175L	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	175	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(110;0.162)																	---	---	---	---	capture		Missense_Mutation	SNP	32844259	32844259	18547	19	G	C	C	44	44	ZNF507	C	3	3
RYR1	6261	broad.mit.edu	37	19	38949935	38949935	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38949935G>T	uc002oit.2	+	19	2447	c.2317G>T	c.(2317-2319)GAC>TAC	p.D773Y	RYR1_uc002oiu.2_Missense_Mutation_p.D773Y	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	773	Cytoplasmic.|B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)													---	---	---	---	capture		Missense_Mutation	SNP	38949935	38949935	14248	19	G	T	T	41	41	RYR1	T	2	2
ZNF780B	163131	broad.mit.edu	37	19	40541220	40541220	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40541220G>C	uc002omu.2	-	5	1611	c.1546C>G	c.(1546-1548)CTT>GTT	p.L516V	ZNF780B_uc002omv.2_Missense_Mutation_p.L368V	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	516	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)																	---	---	---	---	capture		Missense_Mutation	SNP	40541220	40541220	18751	19	G	C	C	35	35	ZNF780B	C	3	3
ZNF780A	284323	broad.mit.edu	37	19	40581599	40581599	+	Missense_Mutation	SNP	T	G	G	rs140183562	byFrequency	TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40581599T>G	uc002omy.2	-	6	975	c.750A>C	c.(748-750)GAA>GAC	p.E250D	ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.E250D|ZNF780A_uc010xvh.1_Missense_Mutation_p.E251D	NM_001010880	NP_001010880	O75290	Z780A_HUMAN	zinc finger protein 780A isoform b	250	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)																	---	---	---	---	capture		Missense_Mutation	SNP	40581599	40581599	18750	19	T	G	G	52	52	ZNF780A	G	4	4
PSG3	5671	broad.mit.edu	37	19	43234133	43234133	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43234133C>A	uc002oue.2	-	4	917	c.785G>T	c.(784-786)TGT>TTT	p.C262F	PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Missense_Mutation_p.C284F	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	262	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)																---	---	---	---	capture		Missense_Mutation	SNP	43234133	43234133	13109	19	C	A	A	17	17	PSG3	A	2	2
IRGC	56269	broad.mit.edu	37	19	44223251	44223251	+	Silent	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44223251C>A	uc002oxh.2	+	2	688	c.541C>A	c.(541-543)CGG>AGG	p.R181R		NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	181						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(69;0.0435)																---	---	---	---	capture		Silent	SNP	44223251	44223251	8141	19	C	A	A	27	27	IRGC	A	1	1
SYMPK	8189	broad.mit.edu	37	19	46338488	46338488	+	Splice_Site	SNP	T	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46338488T>G	uc002pdn.2	-	11	1488	c.1243_splice	c.e11-1	p.V415_splice	SYMPK_uc002pdo.1_Splice_Site_p.V415_splice|SYMPK_uc002pdp.1_Splice_Site_p.V415_splice|SYMPK_uc002pdq.1_Splice_Site_p.V415_splice	NM_004819	NP_004810			symplekin						cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)														---	---	---	---	capture		Splice_Site	SNP	46338488	46338488	15960	19	T	G	G	55	55	SYMPK	G	5	4
SLC17A7	57030	broad.mit.edu	37	19	49939821	49939821	+	Silent	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49939821G>A	uc002pnp.2	-	2	472	c.300C>T	c.(298-300)GGC>GGT	p.G100G	SLC17A7_uc002pnq.1_Silent_p.G33G	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	solute carrier family 17, member 7	100	Extracellular (Potential).				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			ovary(1)|pancreas(1)|skin(1)	3		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)														---	---	---	---	capture		Silent	SNP	49939821	49939821	14918	19	G	A	A	42	42	SLC17A7	A	2	2
SHANK1	50944	broad.mit.edu	37	19	51215370	51215370	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51215370G>A	uc002psx.1	-	6	813	c.794C>T	c.(793-795)GCG>GTG	p.A265V		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	265	ANK 2.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)														---	---	---	---	capture		Missense_Mutation	SNP	51215370	51215370	14756	19	G	A	A	38	38	SHANK1	A	1	1
SIGLEC6	946	broad.mit.edu	37	19	52023493	52023493	+	Missense_Mutation	SNP	A	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52023493A>T	uc002pwy.2	-	8	1367	c.1205T>A	c.(1204-1206)TTC>TAC	p.F402Y	SIGLEC6_uc002pwz.2_Missense_Mutation_p.F386Y|SIGLEC6_uc002pxa.2_Silent_p.V343V|SIGLEC6_uc010ydb.1_Missense_Mutation_p.F339Y|SIGLEC6_uc010ydc.1_Missense_Mutation_p.S375T|SIGLEC6_uc010eoz.1_Silent_p.V321V	NM_001245	NP_001236	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6 isoform 1	402	Cytoplasmic (Potential).				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				ovary(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)														---	---	---	---	capture		Missense_Mutation	SNP	52023493	52023493	14807	19	A	T	T	9	9	SIGLEC6	T	4	4
NLRP12	91662	broad.mit.edu	37	19	54313840	54313840	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54313840C>T	uc002qch.3	-	3	1293	c.1073G>A	c.(1072-1074)AGG>AAG	p.R358K	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.R358K|NLRP12_uc002qcj.3_Missense_Mutation_p.R358K|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.R358K	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	358	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)														---	---	---	---	capture		Missense_Mutation	SNP	54313840	54313840	10877	19	C	T	T	24	24	NLRP12	T	2	2
TNNI3	7137	broad.mit.edu	37	19	55665438	55665438	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55665438C>A	uc002qjg.3	-	7	509	c.509G>T	c.(508-510)CGG>CTG	p.R170L	TNNI3_uc010yft.1_Missense_Mutation_p.R162L	NM_000363	NP_000354	P19429	TNNI3_HUMAN	troponin I, cardiac	170					cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			lung(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)														---	---	---	---	capture		Missense_Mutation	SNP	55665438	55665438	16869	19	C	A	A	23	23	TNNI3	A	1	1
ZNF460	10794	broad.mit.edu	37	19	57802790	57802790	+	Missense_Mutation	SNP	A	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57802790A>T	uc002qog.2	+	3	1203	c.881A>T	c.(880-882)AAT>ATT	p.N294I	ZNF460_uc010ygv.1_Missense_Mutation_p.N253I	NM_006635	NP_006626	Q14592	ZN460_HUMAN	zinc finger protein 460	294	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)														---	---	---	---	capture		Missense_Mutation	SNP	57802790	57802790	18517	19	A	T	T	4	4	ZNF460	T	4	4
ZNF548	147694	broad.mit.edu	37	19	57909941	57909941	+	Missense_Mutation	SNP	A	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57909941A>G	uc002qom.2	+	3	536	c.286A>G	c.(286-288)ATT>GTT	p.I96V	ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.I99V	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)														---	---	---	---	capture		Missense_Mutation	SNP	57909941	57909941	18575	19	A	G	G	8	8	ZNF548	G	4	4
RNF144A	9781	broad.mit.edu	37	2	7137104	7137104	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:7137104C>T	uc002qys.2	+	3	489	c.47C>T	c.(46-48)CCG>CTG	p.P16L	RNF144A_uc002qyt.2_Intron	NM_014746	NP_055561	P50876	R144A_HUMAN	ring finger protein 144	16						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			ovary(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)														---	---	---	---	capture		Missense_Mutation	SNP	7137104	7137104	13922	2	C	T	T	23	23	RNF144A	T	1	1
ODC1	4953	broad.mit.edu	37	2	10580917	10580917	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:10580917G>T	uc010exg.1	-	12	1753	c.1319C>A	c.(1318-1320)TCT>TAT	p.S440Y	ODC1_uc002ran.1_Missense_Mutation_p.S126Y|ODC1_uc002rao.1_Missense_Mutation_p.S440Y|ODC1_uc010yjd.1_Missense_Mutation_p.S310Y	NM_002539	NP_002530	P11926	DCOR_HUMAN	ornithine decarboxylase 1	440					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)													---	---	---	---	capture		Missense_Mutation	SNP	10580917	10580917	11230	2	G	T	T	33	33	ODC1	T	2	2
APOB	338	broad.mit.edu	37	2	21235030	21235030	+	Missense_Mutation	SNP	T	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21235030T>G	uc002red.2	-	26	4838	c.4710A>C	c.(4708-4710)TTA>TTC	p.L1570F		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1570					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)													---	---	---	---	capture		Missense_Mutation	SNP	21235030	21235030	796	2	T	G	G	61	61	APOB	G	4	4
NCOA1	8648	broad.mit.edu	37	2	24951338	24951338	+	Missense_Mutation	SNP	T	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24951338T>C	uc002rfk.2	+	14	3137	c.2879T>C	c.(2878-2880)CTT>CCT	p.L960P	NCOA1_uc010eye.2_Missense_Mutation_p.L960P|NCOA1_uc002rfi.2_Missense_Mutation_p.L809P|NCOA1_uc002rfj.2_Missense_Mutation_p.L960P|NCOA1_uc002rfl.2_Missense_Mutation_p.L960P	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	960	Interaction with CREBBP.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							T	PAX3	alveolar rhadomyosarcoma								---	---	---	---	capture		Missense_Mutation	SNP	24951338	24951338	10627	2	T	C	C	56	56	NCOA1	C	4	4
LTBP1	4052	broad.mit.edu	37	2	33505114	33505114	+	Nonsense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:33505114G>T	uc002ros.2	+	19	3004	c.3004G>T	c.(3004-3006)GAA>TAA	p.E1002*	LTBP1_uc002rot.2_Nonsense_Mutation_p.E676*|LTBP1_uc002rou.2_Nonsense_Mutation_p.E675*|LTBP1_uc002rov.2_Nonsense_Mutation_p.E622*|LTBP1_uc010ymz.1_Nonsense_Mutation_p.E675*|LTBP1_uc010yna.1_Nonsense_Mutation_p.E622*	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1001	EGF-like 7; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)																---	---	---	---	capture		Nonsense_Mutation	SNP	33505114	33505114	9449	2	G	T	T	45	45	LTBP1	T	5	2
STRN	6801	broad.mit.edu	37	2	37096816	37096816	+	Missense_Mutation	SNP	T	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37096816T>G	uc002rpn.2	-	11	1389	c.1380A>C	c.(1378-1380)AGA>AGC	p.R460S	STRN_uc010ezx.2_Missense_Mutation_p.R423S	NM_003162	NP_003153	O43815	STRN_HUMAN	striatin, calmodulin binding protein	460					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			skin(1)	1		Ovarian(717;0.0129)|all_hematologic(82;0.21)																---	---	---	---	capture		Missense_Mutation	SNP	37096816	37096816	15849	2	T	G	G	62	62	STRN	G	4	4
NRXN1	9378	broad.mit.edu	37	2	50780062	50780062	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:50780062C>G	uc010fbq.2	-	9	3019	c.1542G>C	c.(1540-1542)GAG>GAC	p.E514D	NRXN1_uc002rxb.3_Missense_Mutation_p.E146D|NRXN1_uc002rxe.3_Missense_Mutation_p.E474D|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)															---	---	---	---	capture		Missense_Mutation	SNP	50780062	50780062	11070	2	C	G	G	32	32	NRXN1	G	3	3
NRXN1	9378	broad.mit.edu	37	2	50850672	50850672	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:50850672C>A	uc010fbq.2	-	6	2490	c.1013G>T	c.(1012-1014)AGT>ATT	p.S338I	NRXN1_uc002rxb.3_5'UTR|NRXN1_uc002rxe.3_Missense_Mutation_p.S305I|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)															---	---	---	---	capture		Missense_Mutation	SNP	50850672	50850672	11070	2	C	A	A	20	20	NRXN1	A	2	2
ZNF638	27332	broad.mit.edu	37	2	71590297	71590297	+	Missense_Mutation	SNP	A	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71590297A>G	uc002shx.2	+	4	1713	c.1394A>G	c.(1393-1395)AAT>AGT	p.N465S	ZNF638_uc010fec.2_Missense_Mutation_p.N571S|ZNF638_uc010yqw.1_Missense_Mutation_p.N44S|ZNF638_uc002shw.2_Missense_Mutation_p.N465S|ZNF638_uc002shy.2_Missense_Mutation_p.N465S|ZNF638_uc002shz.2_Missense_Mutation_p.N465S|ZNF638_uc002sia.2_Missense_Mutation_p.N465S|ZNF638_uc002sib.1_Missense_Mutation_p.N465S|ZNF638_uc010fed.2_5'Flank	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	465					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	71590297	71590297	18650	2	A	G	G	4	4	ZNF638	G	4	4
FBXO41	150726	broad.mit.edu	37	2	73498004	73498004	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73498004G>A	uc002sjb.1	-	1	40	c.40C>T	c.(40-42)CTT>TTT	p.L14F		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	F-box protein 41	Error:Variant_position_missing_in_Q8TF61_after_alignment						intracellular	protein binding|zinc ion binding			breast(2)|pancreas(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	73498004	73498004	5987	2	G	A	A	35	35	FBXO41	A	2	2
LRRTM4	80059	broad.mit.edu	37	2	77746093	77746093	+	Missense_Mutation	SNP	A	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:77746093A>G	uc002snr.2	-	3	1317	c.902T>C	c.(901-903)ATA>ACA	p.I301T	LRRTM4_uc002snq.2_Missense_Mutation_p.I301T|LRRTM4_uc002sns.2_Missense_Mutation_p.I301T|LRRTM4_uc002snt.2_Missense_Mutation_p.I302T	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	301	Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)														---	---	---	---	capture		Missense_Mutation	SNP	77746093	77746093	9418	2	A	G	G	16	16	LRRTM4	G	4	4
REG3A	5068	broad.mit.edu	37	2	79386511	79386511	+	Silent	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:79386511C>A	uc002sod.1	-	1	276	c.21G>T	c.(19-21)CTG>CTT	p.L7L	REG3A_uc002soe.1_Silent_p.L7L|REG3A_uc002sof.1_Silent_p.L7L	NM_138938	NP_620355	Q06141	REG3A_HUMAN	pancreatitis-associated protein precursor	7					acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			skin(1)	1																		---	---	---	---	capture		Silent	SNP	79386511	79386511	13681	2	C	A	A	25	25	REG3A	A	2	2
EPC2	26122	broad.mit.edu	37	2	149519363	149519363	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:149519363G>C	uc010zbt.1	+	5	706	c.679G>C	c.(679-681)GAT>CAT	p.D227H		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2	227					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)|breast(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0516)														---	---	---	---	capture		Missense_Mutation	SNP	149519363	149519363	5354	2	G	C	C	45	45	EPC2	C	3	3
GPD2	2820	broad.mit.edu	37	2	157425449	157425449	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:157425449G>C	uc002tzf.3	+	10	1638	c.1278G>C	c.(1276-1278)GAG>GAC	p.E426D	GPD2_uc010zch.1_Missense_Mutation_p.E199D|GPD2_uc002tzd.3_Missense_Mutation_p.E426D|GPD2_uc002tze.1_RNA	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2,	426					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	157425449	157425449	6880	2	G	C	C	33	33	GPD2	C	3	3
GALNT5	11227	broad.mit.edu	37	2	158157214	158157214	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:158157214G>C	uc002tzg.2	+	7	2397	c.2142G>C	c.(2140-2142)GAG>GAC	p.E714D	GALNT5_uc010zci.1_RNA	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	N-acetylgalactosaminyltransferase 5	714	Catalytic subdomain B.|Lumenal (Potential).				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(3)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	158157214	158157214	6480	2	G	C	C	33	33	GALNT5	C	3	3
ACVR1C	130399	broad.mit.edu	37	2	158406771	158406771	+	Silent	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:158406771G>A	uc002tzk.3	-	4	921	c.678C>T	c.(676-678)TCC>TCT	p.S226S	ACVR1C_uc002tzl.3_Silent_p.S146S|ACVR1C_uc010fof.2_Intron|ACVR1C_uc010foe.2_Silent_p.S176S	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC isoform 1	226	Protein kinase.|Cytoplasmic (Potential).				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			lung(3)|ovary(2)|skin(2)	7																		---	---	---	---	capture		Silent	SNP	158406771	158406771	223	2	G	A	A	47	47	ACVR1C	A	2	2
SCN3A	6328	broad.mit.edu	37	2	166032861	166032861	+	Missense_Mutation	SNP	C	T	T	rs139769668	byFrequency	TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166032861C>T	uc002ucx.2	-	3	536	c.44G>A	c.(43-45)CGC>CAC	p.R15H	SCN3A_uc002ucy.2_Missense_Mutation_p.R15H|SCN3A_uc002ucz.2_Missense_Mutation_p.R15H	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	15						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)													---	---	---	---	capture		Missense_Mutation	SNP	166032861	166032861	14400	2	C	T	T	27	27	SCN3A	T	1	1
RAPGEF4	11069	broad.mit.edu	37	2	173916488	173916488	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:173916488G>A	uc002uhv.3	+	31	3216	c.3029G>A	c.(3028-3030)CGA>CAA	p.R1010Q	RAPGEF4_uc002uhw.3_Missense_Mutation_p.R866Q	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	1010					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.194)															---	---	---	---	capture		Missense_Mutation	SNP	173916488	173916488	13506	2	G	A	A	37	37	RAPGEF4	A	1	1
NFE2L2	4780	broad.mit.edu	37	2	178098944	178098944	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:178098944C>G	uc002ulh.3	-	2	656	c.101G>C	c.(100-102)CGA>CCA	p.R34P	NFE2L2_uc002ulg.3_Missense_Mutation_p.R18P|NFE2L2_uc010zfa.1_Missense_Mutation_p.R18P|NFE2L2_uc002uli.3_Missense_Mutation_p.R18P|NFE2L2_uc010fra.2_Missense_Mutation_p.R18P|NFE2L2_uc010frb.2_Missense_Mutation_p.R18P	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	34					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)					Mis		NSCLC|HNSCC					HNSCC(56;0.16)			---	---	---	---	capture		Missense_Mutation	SNP	178098944	178098944	10768	2	C	G	G	31	31	NFE2L2	G	3	3
TTN	7273	broad.mit.edu	37	2	179442158	179442158	+	Silent	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179442158G>T	uc010zfg.1	-	273	61424	c.61200C>A	c.(61198-61200)GCC>GCA	p.A20400A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A14095A|TTN_uc010zfi.1_Silent_p.A14028A|TTN_uc010zfj.1_Silent_p.A13903A|uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21327							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)															---	---	---	---	capture		Silent	SNP	179442158	179442158	17290	2	G	T	T	47	47	TTN	T	2	2
TTN	7273	broad.mit.edu	37	2	179477625	179477625	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179477625G>T	uc010zfg.1	-	214	42343	c.42119C>A	c.(42118-42120)ACT>AAT	p.T14040N	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T7735N|TTN_uc010zfi.1_Missense_Mutation_p.T7668N|TTN_uc010zfj.1_Missense_Mutation_p.T7543N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14967							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)															---	---	---	---	capture		Missense_Mutation	SNP	179477625	179477625	17290	2	G	T	T	36	36	TTN	T	2	2
TTN	7273	broad.mit.edu	37	2	179595911	179595911	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179595911C>G	uc010zfg.1	-	57	13973	c.13749G>C	c.(13747-13749)GAG>GAC	p.E4583D	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1244D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5510							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)															---	---	---	---	capture		Missense_Mutation	SNP	179595911	179595911	17290	2	C	G	G	24	24	TTN	G	3	3
ZNF804A	91752	broad.mit.edu	37	2	185801788	185801788	+	Silent	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:185801788C>A	uc002uph.2	+	4	2259	c.1665C>A	c.(1663-1665)ATC>ATA	p.I555I		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	555						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11																		---	---	---	---	capture		Silent	SNP	185801788	185801788	18768	2	C	A	A	29	29	ZNF804A	A	2	2
ITGAV	3685	broad.mit.edu	37	2	187532403	187532403	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:187532403C>G	uc002upq.2	+	24	2609	c.2333C>G	c.(2332-2334)TCG>TGG	p.S778W	ITGAV_uc010frs.2_Missense_Mutation_p.S742W|ITGAV_uc010zfv.1_Missense_Mutation_p.S732W	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	778	Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)														---	---	---	---	capture		Missense_Mutation	SNP	187532403	187532403	8192	2	C	G	G	31	31	ITGAV	G	3	3
PMS1	5378	broad.mit.edu	37	2	190719454	190719454	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:190719454G>C	uc002urh.3	+	9	1985	c.1456G>C	c.(1456-1458)GGT>CGT	p.G486R	PMS1_uc010zga.1_Missense_Mutation_p.G447R|PMS1_uc010zgb.1_Missense_Mutation_p.G425R|PMS1_uc002urk.3_Missense_Mutation_p.G447R|PMS1_uc002uri.3_Missense_Mutation_p.G486R|PMS1_uc010zgc.1_Missense_Mutation_p.G310R|PMS1_uc010zgd.1_Missense_Mutation_p.G310R|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.G447R|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Missense_Mutation_p.G271R|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Missense_Mutation_p.G154R	NM_000534	NP_000525	P54277	PMS1_HUMAN	postmeiotic segregation 1 isoform a	486					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)					Mis|N			colorectal|endometrial|ovarian		Direct_reversal_of_damage|MMR					---	---	---	---	capture		Missense_Mutation	SNP	190719454	190719454	12568	2	G	C	C	35	35	PMS1	C	3	3
DYTN	391475	broad.mit.edu	37	2	207557925	207557925	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207557925C>A	uc002vbr.1	-	9	1071	c.954G>T	c.(952-954)AAG>AAT	p.K318N		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	dystrotelin	318						plasma membrane	zinc ion binding			ovary(1)|central_nervous_system(1)	2				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)														---	---	---	---	capture		Missense_Mutation	SNP	207557925	207557925	5047	2	C	A	A	24	24	DYTN	A	2	2
PIKFYVE	200576	broad.mit.edu	37	2	209215512	209215512	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209215512G>T	uc002vcz.2	+	37	5610	c.5452G>T	c.(5452-5454)GCC>TCC	p.A1818S		NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1818	PIPK.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10																		---	---	---	---	capture		Missense_Mutation	SNP	209215512	209215512	12348	2	G	T	T	46	46	PIKFYVE	T	2	2
CPS1	1373	broad.mit.edu	37	2	211469926	211469926	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:211469926C>T	uc002vee.3	+	17	2069	c.1937C>T	c.(1936-1938)ACT>ATT	p.T646I	CPS1_uc010fur.2_Missense_Mutation_p.T652I|CPS1_uc010fus.2_Missense_Mutation_p.T195I	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	646	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)														---	---	---	---	capture		Missense_Mutation	SNP	211469926	211469926	3961	2	C	T	T	20	20	CPS1	T	2	2
PLCB1	23236	broad.mit.edu	37	20	8713910	8713910	+	Silent	SNP	G	A	A	rs11484096		TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:8713910G>A	uc002wnb.2	+	19	1917	c.1914G>A	c.(1912-1914)GGG>GGA	p.G638G	PLCB1_uc010zrb.1_Silent_p.G537G|PLCB1_uc002wna.2_Silent_p.G638G|PLCB1_uc002wnc.1_Silent_p.G537G|PLCB1_uc002wnd.1_Silent_p.G215G	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	638	PI-PLC Y-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12																		---	---	---	---	capture		Silent	SNP	8713910	8713910	12453	20	G	A	A	41	41	PLCB1	A	2	2
RBL1	5933	broad.mit.edu	37	20	35696516	35696516	+	Missense_Mutation	SNP	T	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35696516T>C	uc002xgi.2	-	3	443	c.364A>G	c.(364-366)ATA>GTA	p.I122V	RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.I122V|RBL1_uc010gfv.1_RNA	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	122					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)																---	---	---	---	capture		Missense_Mutation	SNP	35696516	35696516	13570	20	T	C	C	49	49	RBL1	C	4	4
NCOA5	57727	broad.mit.edu	37	20	44691090	44691090	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44691090G>C	uc002xrd.2	-	7	2117	c.1589C>G	c.(1588-1590)TCC>TGC	p.S530C	NCOA5_uc002xrc.2_3'UTR|NCOA5_uc002xre.2_Missense_Mutation_p.S530C	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	530	Transcription activation.				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)																---	---	---	---	capture		Missense_Mutation	SNP	44691090	44691090	10631	20	G	C	C	41	41	NCOA5	C	3	3
RAE1	8480	broad.mit.edu	37	20	55948590	55948590	+	Silent	SNP	A	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:55948590A>T	uc002xyg.2	+	9	1043	c.702A>T	c.(700-702)GGA>GGT	p.G234G	RAE1_uc010gis.1_Silent_p.G187G|RAE1_uc010git.1_Silent_p.G234G|RAE1_uc002xyh.2_Silent_p.G234G|RAE1_uc002xyi.2_Silent_p.G234G	NM_003610	NP_003601	P78406	RAE1L_HUMAN	RAE1 (RNA export 1, S.pombe) homolog	234					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding				0	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)															---	---	---	---	capture		Silent	SNP	55948590	55948590	13458	20	A	T	T	9	9	RAE1	T	4	4
RBM11	54033	broad.mit.edu	37	21	15599537	15599537	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:15599537G>C	uc002yjo.3	+	5	811	c.769G>C	c.(769-771)GAT>CAT	p.D257H	RBM11_uc002yjn.3_Missense_Mutation_p.D143H|RBM11_uc002yjp.3_Missense_Mutation_p.D143H	NM_144770	NP_658983	P57052	RBM11_HUMAN	RNA binding motif protein 11	257							nucleotide binding|RNA binding				0				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)														---	---	---	---	capture		Missense_Mutation	SNP	15599537	15599537	13573	21	G	C	C	45	45	RBM11	C	3	3
NCAM2	4685	broad.mit.edu	37	21	22746206	22746206	+	Silent	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:22746206C>A	uc002yld.1	+	9	1317	c.1068C>A	c.(1066-1068)GTC>GTA	p.V356V	NCAM2_uc011acb.1_Silent_p.V214V|NCAM2_uc011acc.1_Silent_p.V381V	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	356	Ig-like C2-type 4.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)														---	---	---	---	capture		Silent	SNP	22746206	22746206	10602	21	C	A	A	29	29	NCAM2	A	2	2
DSCAM	1826	broad.mit.edu	37	21	41385159	41385159	+	Silent	SNP	C	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:41385159C>T	uc002yyq.1	-	33	6293	c.5841G>A	c.(5839-5841)CCG>CCA	p.P1947P	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1947	Cytoplasmic (Potential).			HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)																---	---	---	---	capture		Silent	SNP	41385159	41385159	4952	21	C	T	T	31	31	DSCAM	T	1	1
PITPNB	23760	broad.mit.edu	37	22	28293859	28293859	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:28293859C>G	uc003adk.2	-	4	295	c.219G>C	c.(217-219)AGG>AGC	p.R73S	PITPNB_uc011akh.1_Missense_Mutation_p.R75S|PITPNB_uc003adl.2_Missense_Mutation_p.R73S	NM_012399	NP_036531	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	73					lipid metabolic process|transport	Golgi apparatus	lipid binding			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	28293859	28293859	12372	22	C	G	G	30	30	PITPNB	G	3	3
C22orf30	253143	broad.mit.edu	37	22	32072807	32072807	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32072807G>A	uc003alo.1	-	6	5830	c.5774C>T	c.(5773-5775)CCG>CTG	p.P1925L		NM_173566	NP_775837	Q5THK1	PR14L_HUMAN	hypothetical protein LOC253143	Error:Variant_position_missing_in_Q5THK1_after_alignment											0																		---	---	---	---	capture		Missense_Mutation	SNP	32072807	32072807	2223	22	G	A	A	39	39	C22orf30	A	1	1
MYH9	4627	broad.mit.edu	37	22	36715597	36715597	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36715597G>A	uc003apg.2	-	10	1327	c.1096C>T	c.(1096-1098)CCC>TCC	p.P366S	MYH9_uc003aph.1_Missense_Mutation_p.P230S	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	366	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11								T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				---	---	---	---	capture		Missense_Mutation	SNP	36715597	36715597	10437	22	G	A	A	42	42	MYH9	A	2	2
MYH9	4627	broad.mit.edu	37	22	36723505	36723505	+	Splice_Site	SNP	C	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36723505C>T	uc003apg.2	-	4	749	c.518_splice	c.e4+1	p.T173_splice	MYH9_uc003aph.1_Splice_Site_p.T37_splice|MYH9_uc003api.1_Splice_Site_p.T173_splice	NM_002473	NP_002464			myosin, heavy polypeptide 9, non-muscle						actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11								T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				---	---	---	---	capture		Splice_Site	SNP	36723505	36723505	10437	22	C	T	T	19	19	MYH9	T	5	1
SSTR3	6753	broad.mit.edu	37	22	37603337	37603337	+	Missense_Mutation	SNP	A	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37603337A>T	uc003ara.2	-	2	568	c.506T>A	c.(505-507)GTG>GAG	p.V169E	SSTR3_uc003arb.2_Missense_Mutation_p.V169E	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	169	Helical; Name=4; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			lung(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	37603337	37603337	15715	22	A	T	T	6	6	SSTR3	T	4	4
MCAT	27349	broad.mit.edu	37	22	43533133	43533133	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43533133G>C	uc003bdl.1	-	3	732	c.683C>G	c.(682-684)TCC>TGC	p.S228C	MCAT_uc003bdm.1_Intron	NM_173467	NP_775738	Q8IVS2	FABD_HUMAN	mitochondrial malonyltransferase isoform a	228					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			ovary(1)	1		Ovarian(80;0.0694)														OREG0026613	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	43533133	43533133	9761	22	G	C	C	41	41	MCAT	C	3	3
HRH1	3269	broad.mit.edu	37	3	11301218	11301218	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:11301218G>T	uc010hdr.2	+	2	837	c.495G>T	c.(493-495)TGG>TGT	p.W165C	HRH1_uc010hds.2_Missense_Mutation_p.W165C|HRH1_uc010hdt.2_Missense_Mutation_p.W165C|HRH1_uc003bwb.3_Missense_Mutation_p.W165C	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	histamine receptor H1	165	Helical; Name=4; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			large_intestine(1)|ovary(1)	2					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)													---	---	---	---	capture		Missense_Mutation	SNP	11301218	11301218	7647	3	G	T	T	41	41	HRH1	T	2	2
ABHD5	51099	broad.mit.edu	37	3	43759279	43759279	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:43759279G>C	uc003cmx.2	+	6	1000	c.890G>C	c.(889-891)CGA>CCA	p.R297P		NM_016006	NP_057090	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	297					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			ovary(1)	1		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)														---	---	---	---	capture		Missense_Mutation	SNP	43759279	43759279	86	3	G	C	C	37	37	ABHD5	C	3	3
ADAMTS9	56999	broad.mit.edu	37	3	64644325	64644325	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:64644325G>T	uc003dmg.2	-	4	854	c.822C>A	c.(820-822)GAC>GAA	p.D274E	ADAMTS9_uc011bfo.1_Missense_Mutation_p.D274E|ADAMTS9_uc003dmh.1_Missense_Mutation_p.D103E|ADAMTS9_uc003dmk.1_Missense_Mutation_p.D274E	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	274					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)														---	---	---	---	capture		Missense_Mutation	SNP	64644325	64644325	274	3	G	T	T	48	48	ADAMTS9	T	2	2
HTR1F	3355	broad.mit.edu	37	3	88040159	88040159	+	Missense_Mutation	SNP	A	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:88040159A>G	uc003dqr.2	+	2	418	c.260A>G	c.(259-261)GAG>GGG	p.E87G		NM_000866	NP_000857	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F	87	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			ovary(3)	3	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)													---	---	---	---	capture		Missense_Mutation	SNP	88040159	88040159	7740	3	A	G	G	11	11	HTR1F	G	4	4
EPHA6	285220	broad.mit.edu	37	3	96533584	96533584	+	Silent	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:96533584G>T	uc010how.1	+	1	160	c.117G>T	c.(115-117)GGG>GGT	p.G39G	EPHA6_uc003drp.1_Silent_p.G39G	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	Error:Variant_position_missing_in_Q9UF33_after_alignment						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																		---	---	---	---	capture		Silent	SNP	96533584	96533584	5364	3	G	T	T	41	41	EPHA6	T	2	2
OR5AC2	81050	broad.mit.edu	37	3	97806662	97806662	+	Missense_Mutation	SNP	A	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97806662A>G	uc011bgs.1	+	1	646	c.646A>G	c.(646-648)ATC>GTC	p.I216V		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC,	216	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	97806662	97806662	11551	3	A	G	G	16	16	OR5AC2	G	4	4
GPR15	2838	broad.mit.edu	37	3	98251900	98251900	+	Silent	SNP	C	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98251900C>G	uc011bgy.1	+	1	1023	c.1023C>G	c.(1021-1023)CTC>CTG	p.L341L		NM_005290	NP_005281	P49685	GPR15_HUMAN	G protein-coupled receptor 15	341	Cytoplasmic (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)														---	---	---	---	capture		Silent	SNP	98251900	98251900	6930	3	C	G	G	32	32	GPR15	G	3	3
CEP97	79598	broad.mit.edu	37	3	101477150	101477150	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101477150C>G	uc003dvk.1	+	9	1727	c.1700C>G	c.(1699-1701)GCC>GGC	p.A567G	CEP97_uc010hpm.1_Missense_Mutation_p.A533G|CEP97_uc011bhf.1_Missense_Mutation_p.A508G|CEP97_uc003dvl.1_Missense_Mutation_p.A263G|CEP97_uc003dvm.1_Missense_Mutation_p.A405G	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	567	IQ.|CEP110 binding.					centrosome|nucleus	protein binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	101477150	101477150	3396	3	C	G	G	26	26	CEP97	G	3	3
BBX	56987	broad.mit.edu	37	3	107435501	107435501	+	Silent	SNP	T	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:107435501T>G	uc010hpr.2	+	5	537	c.210T>G	c.(208-210)ACT>ACG	p.T70T	BBX_uc003dwk.3_Silent_p.T70T|BBX_uc003dwl.3_Silent_p.T70T|BBX_uc010hps.1_Silent_p.T91T|BBX_uc003dwm.3_Silent_p.T70T	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)															---	---	---	---	capture		Silent	SNP	107435501	107435501	1364	3	T	G	G	55	55	BBX	G	4	4
HHLA2	11148	broad.mit.edu	37	3	108072395	108072395	+	Silent	SNP	C	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108072395C>T	uc003dwy.3	+	4	353	c.186C>T	c.(184-186)CAC>CAT	p.H62H	HHLA2_uc011bhl.1_Intron|HHLA2_uc010hpu.2_Silent_p.H62H|HHLA2_uc003dwz.2_Silent_p.H62H	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2 precursor	62	Ig-like V-type 1.					integral to membrane				ovary(1)	1																		---	---	---	---	capture		Silent	SNP	108072395	108072395	7380	3	C	T	T	20	20	HHLA2	T	2	2
POLQ	10721	broad.mit.edu	37	3	121208002	121208002	+	Missense_Mutation	SNP	A	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121208002A>G	uc003eee.3	-	16	3905	c.3776T>C	c.(3775-3777)ATA>ACA	p.I1259T	POLQ_uc003eed.2_Missense_Mutation_p.I431T	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1259					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)									DNA_polymerases_(catalytic_subunits)					---	---	---	---	capture		Missense_Mutation	SNP	121208002	121208002	12636	3	A	G	G	16	16	POLQ	G	4	4
NPHP3	27031	broad.mit.edu	37	3	132432080	132432080	+	Silent	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132432080G>A	uc003epe.1	-	6	1085	c.1008C>T	c.(1006-1008)TTC>TTT	p.F336F	NPHP3_uc003epf.1_Silent_p.F91F	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	336					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	132432080	132432080	10984	3	G	A	A	41	41	NPHP3	A	2	2
C3orf72	401089	broad.mit.edu	37	3	138668461	138668461	+	Missense_Mutation	SNP	A	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138668461A>T	uc003esx.1	+	2	331	c.200A>T	c.(199-201)CAT>CTT	p.H67L	FOXL2_uc003esw.2_5'Flank|C3orf72_uc011bmr.1_5'UTR	NM_001040061	NP_001035150	Q6ZUU3	CC072_HUMAN	chromosome 3 open reading frame 72	67											0																		---	---	---	---	capture		Missense_Mutation	SNP	138668461	138668461	2337	3	A	T	T	8	8	C3orf72	T	4	4
CLSTN2	64084	broad.mit.edu	37	3	140285003	140285003	+	Nonsense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:140285003G>T	uc003etn.2	+	17	2966	c.2776G>T	c.(2776-2778)GAG>TAG	p.E926*		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	926	Glu-rich (highly acidic).|Cytoplasmic (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7															HNSCC(16;0.037)			---	---	---	---	capture		Nonsense_Mutation	SNP	140285003	140285003	3700	3	G	T	T	41	41	CLSTN2	T	5	2
SI	6476	broad.mit.edu	37	3	164758839	164758839	+	Missense_Mutation	SNP	T	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164758839T>G	uc003fei.2	-	18	2110	c.2048A>C	c.(2047-2049)AAA>ACA	p.K683T		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	683	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)										HNSCC(35;0.089)			---	---	---	---	capture		Missense_Mutation	SNP	164758839	164758839	14792	3	T	G	G	64	64	SI	G	4	4
SLITRK3	22865	broad.mit.edu	37	3	164906740	164906740	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164906740G>T	uc003fej.3	-	2	2323	c.1879C>A	c.(1879-1881)CCT>ACT	p.P627T	SLITRK3_uc003fek.2_Missense_Mutation_p.P627T	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	627	Extracellular (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10															HNSCC(40;0.11)			---	---	---	---	capture		Missense_Mutation	SNP	164906740	164906740	15242	3	G	T	T	42	42	SLITRK3	T	2	2
ZBBX	79740	broad.mit.edu	37	3	167016134	167016134	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:167016134C>G	uc003fep.2	-	18	2161	c.1838G>C	c.(1837-1839)CGT>CCT	p.R613P	ZBBX_uc011bpc.1_Missense_Mutation_p.R613P|ZBBX_uc003feq.2_Missense_Mutation_p.R584P	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	613						intracellular	zinc ion binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	167016134	167016134	18100	3	C	G	G	19	19	ZBBX	G	3	3
NAALADL2	254827	broad.mit.edu	37	3	175165022	175165022	+	Missense_Mutation	SNP	A	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:175165022A>T	uc003fit.2	+	6	1183	c.1096A>T	c.(1096-1098)AGT>TGT	p.S366C	NAALADL2_uc003fiu.1_Missense_Mutation_p.S359C|NAALADL2_uc010hwy.1_Intron|NAALADL2_uc010hwz.1_Translation_Start_Site	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	366	Extracellular (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)														---	---	---	---	capture		Missense_Mutation	SNP	175165022	175165022	10525	3	A	T	T	3	3	NAALADL2	T	4	4
LSG1	55341	broad.mit.edu	37	3	194365336	194365336	+	Missense_Mutation	SNP	A	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:194365336A>G	uc003fui.2	-	13	2078	c.1763T>C	c.(1762-1764)ATT>ACT	p.I588T		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	large subunit GTPase 1	588					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity				0	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)														---	---	---	---	capture		Missense_Mutation	SNP	194365336	194365336	9425	3	A	G	G	4	4	LSG1	G	4	4
SENP5	205564	broad.mit.edu	37	3	196613059	196613059	+	Missense_Mutation	SNP	A	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196613059A>T	uc003fwz.3	+	2	1256	c.1007A>T	c.(1006-1008)AAG>ATG	p.K336M	SENP5_uc011bty.1_Missense_Mutation_p.K336M	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	336					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			breast(2)|lung(1)	3	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)														---	---	---	---	capture		Missense_Mutation	SNP	196613059	196613059	14535	3	A	T	T	3	3	SENP5	T	4	4
LRRC66	339977	broad.mit.edu	37	4	52863965	52863965	+	Missense_Mutation	SNP	T	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:52863965T>C	uc003gzi.2	-	3	818	c.805A>G	c.(805-807)ATT>GTT	p.I269V		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	269						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	52863965	52863965	9393	4	T	C	C	49	49	LRRC66	C	4	4
PKD2	5311	broad.mit.edu	37	4	88973215	88973215	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:88973215G>T	uc003hre.2	+	7	1687	c.1621G>T	c.(1621-1623)GAT>TAT	p.D541Y	PKD2_uc011cdf.1_5'UTR|PKD2_uc011cdg.1_5'UTR|PKD2_uc011cdh.1_5'UTR	NM_000297	NP_000288	Q13563	PKD2_HUMAN	polycystin 2	541	Extracellular (Potential).					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			skin(1)	1		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)														---	---	---	---	capture		Missense_Mutation	SNP	88973215	88973215	12391	4	G	T	T	33	33	PKD2	T	2	2
KIAA0947	23379	broad.mit.edu	37	5	5463179	5463179	+	Silent	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:5463179G>T	uc003jdm.3	+	13	3954	c.3732G>T	c.(3730-3732)TCG>TCT	p.S1244S		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1244										ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Silent	SNP	5463179	5463179	8509	5	G	T	T	40	40	KIAA0947	T	1	1
CDH12	1010	broad.mit.edu	37	5	21752268	21752268	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:21752268C>G	uc010iuc.2	-	12	2421	c.1963G>C	c.(1963-1965)GAC>CAC	p.D655H	CDH12_uc011cno.1_Missense_Mutation_p.D615H|CDH12_uc003jgk.2_Missense_Mutation_p.D655H|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	655	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2															HNSCC(59;0.17)			---	---	---	---	capture		Missense_Mutation	SNP	21752268	21752268	3227	5	C	G	G	32	32	CDH12	G	3	3
ADAMTS12	81792	broad.mit.edu	37	5	33616178	33616178	+	Splice_Site	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33616178C>A	uc003jia.1	-	15	2307	c.2144_splice	c.e15-1	p.G715_splice	ADAMTS12_uc010iuq.1_Splice_Site_p.G630_splice	NM_030955	NP_112217			ADAM metallopeptidase with thrombospondin type 1						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9															HNSCC(64;0.19)			---	---	---	---	capture		Splice_Site	SNP	33616178	33616178	258	5	C	A	A	24	24	ADAMTS12	A	5	2
RICTOR	253260	broad.mit.edu	37	5	38963107	38963107	+	Silent	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38963107G>A	uc003jlp.2	-	17	1461	c.1437C>T	c.(1435-1437)TTC>TTT	p.F479F	RICTOR_uc003jlo.2_Silent_p.F479F|RICTOR_uc010ivf.2_Silent_p.F194F	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	479					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)																	---	---	---	---	capture		Silent	SNP	38963107	38963107	13833	5	G	A	A	41	41	RICTOR	A	2	2
C7	730	broad.mit.edu	37	5	40936549	40936549	+	Silent	SNP	C	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:40936549C>T	uc003jmh.2	+	5	504	c.390C>T	c.(388-390)ATC>ATT	p.I130I	C7_uc011cpn.1_RNA	NM_000587	NP_000578	P10643	CO7_HUMAN	complement component 7 precursor	130	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					0		Ovarian(839;0.0112)																---	---	---	---	capture		Silent	SNP	40936549	40936549	2482	5	C	T	T	31	31	C7	T	1	1
PRR16	51334	broad.mit.edu	37	5	120021651	120021651	+	Silent	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:120021651G>A	uc003ksq.2	+	2	325	c.162G>A	c.(160-162)GTG>GTA	p.V54V	PRR16_uc003ksp.2_Silent_p.V31V|PRR16_uc003ksr.2_5'UTR	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	proline rich 16	54	Potential.									pancreas(2)|ovary(1)	3		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)														---	---	---	---	capture		Silent	SNP	120021651	120021651	13032	5	G	A	A	47	47	PRR16	A	2	2
HSPA4	3308	broad.mit.edu	37	5	132406080	132406080	+	Silent	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:132406080G>A	uc003kyj.2	+	4	602	c.321G>A	c.(319-321)GAG>GAA	p.E107E		NM_002154	NP_002145	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	107					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			lung(1)|breast(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---	capture		Silent	SNP	132406080	132406080	7711	5	G	A	A	35	35	HSPA4	A	2	2
RANBP17	64901	broad.mit.edu	37	5	170598227	170598227	+	Missense_Mutation	SNP	A	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:170598227A>T	uc003mba.2	+	16	1818	c.1802A>T	c.(1801-1803)TAC>TTC	p.Y601F	RANBP17_uc003max.1_RNA|RANBP17_uc003may.1_RNA|RANBP17_uc003maz.1_RNA|RANBP17_uc010jjr.1_RNA|RANBP17_uc003mbb.2_Intron	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	601					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)					T	TRD@	ALL								---	---	---	---	capture		Missense_Mutation	SNP	170598227	170598227	13487	5	A	T	T	14	14	RANBP17	T	4	4
DSP	1832	broad.mit.edu	37	6	7575021	7575021	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7575021G>A	uc003mxp.1	+	17	2708	c.2429G>A	c.(2428-2430)GGA>GAA	p.G810E	DSP_uc003mxq.1_Missense_Mutation_p.G810E	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	810	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)														---	---	---	---	capture		Missense_Mutation	SNP	7575021	7575021	4965	6	G	A	A	41	41	DSP	A	2	2
HIST1H2AG	8969	broad.mit.edu	37	6	27101012	27101012	+	Silent	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:27101012G>A	uc003niw.2	+	1	196	c.162G>A	c.(160-162)GCG>GCA	p.A54A	HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank	NM_021064	NP_066408	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	54					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding				0																		---	---	---	---	capture		Silent	SNP	27101012	27101012	7418	6	G	A	A	39	39	HIST1H2AG	A	1	1
ZNF323	64288	broad.mit.edu	37	6	28294228	28294228	+	Silent	SNP	T	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28294228T>A	uc003nla.2	-	4	1336	c.936A>T	c.(934-936)CGA>CGT	p.R312R	ZNF323_uc003nld.2_Silent_p.R312R|ZNF323_uc010jra.2_Silent_p.R312R|ZNF323_uc003nlb.2_Silent_p.R153R|ZNF323_uc010jrb.2_Silent_p.R153R|ZNF323_uc003nlc.2_Silent_p.R312R	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN	zinc finger protein 323	312	C2H2-type 3.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	28294228	28294228	18435	6	T	A	A	58	58	ZNF323	A	4	4
MSH5	4439	broad.mit.edu	37	6	31721345	31721345	+	Missense_Mutation	SNP	T	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31721345T>G	uc003nwv.1	+	12	1032	c.953T>G	c.(952-954)CTG>CGG	p.L318R	MSH5_uc003nwt.1_Missense_Mutation_p.L335R|MSH5_uc003nwu.1_Missense_Mutation_p.L318R|MSH5_uc003nww.1_Missense_Mutation_p.L318R|MSH5_uc003nwx.1_Missense_Mutation_p.L335R|MSH5_uc011dof.1_Missense_Mutation_p.L17R|MSH5_uc003nwy.1_5'Flank	NM_172166	NP_751898	O43196	MSH5_HUMAN	mutS homolog 5 isoform c	318					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(2)|breast(1)	3													Direct_reversal_of_damage|MMR					---	---	---	---	capture		Missense_Mutation	SNP	31721345	31721345	10266	6	T	G	G	55	55	MSH5	G	4	4
TNXB	7148	broad.mit.edu	37	6	32029424	32029424	+	Silent	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32029424C>A	uc003nzl.2	-	21	7444	c.7242G>T	c.(7240-7242)CTG>CTT	p.L2414L		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2474	Fibronectin type-III 17.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0																		---	---	---	---	capture		Silent	SNP	32029424	32029424	16887	6	C	A	A	21	21	TNXB	A	2	2
SYNGAP1	8831	broad.mit.edu	37	6	33405912	33405912	+	Silent	SNP	C	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33405912C>T	uc011dri.1	+	8	1425	c.1230C>T	c.(1228-1230)AGC>AGT	p.S410S	SYNGAP1_uc003oeo.1_Silent_p.S395S|SYNGAP1_uc010juy.2_Silent_p.S395S|SYNGAP1_uc010juz.2_Silent_p.S122S	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	410					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4																		---	---	---	---	capture		Silent	SNP	33405912	33405912	15968	6	C	T	T	25	25	SYNGAP1	T	2	2
DNAH8	1769	broad.mit.edu	37	6	38843455	38843455	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38843455G>T	uc003ooe.1	+	51	7658	c.7058G>T	c.(7057-7059)GGC>GTC	p.G2353V		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21																		---	---	---	---	capture		Missense_Mutation	SNP	38843455	38843455	4790	6	G	T	T	42	42	DNAH8	T	2	2
DAAM2	23500	broad.mit.edu	37	6	39835505	39835505	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:39835505G>T	uc003oow.2	+	6	804	c.648G>T	c.(646-648)AAG>AAT	p.K216N	DAAM2_uc010jxc.2_Missense_Mutation_p.K216N|DAAM2_uc003oox.2_Missense_Mutation_p.K216N	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	216	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)																	---	---	---	---	capture		Missense_Mutation	SNP	39835505	39835505	4382	6	G	T	T	35	35	DAAM2	T	2	2
FAM135A	57579	broad.mit.edu	37	6	71185225	71185225	+	Silent	SNP	A	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:71185225A>G	uc003pfj.2	+	4	403	c.270A>G	c.(268-270)AAA>AAG	p.K90K	FAM135A_uc003pfi.2_Silent_p.K90K|FAM135A_uc003pfh.2_Silent_p.K47K|FAM135A_uc003pfk.2_Silent_p.K90K|FAM135A_uc003pfl.2_5'UTR	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	90										central_nervous_system(1)	1																		---	---	---	---	capture		Silent	SNP	71185225	71185225	5645	6	A	G	G	3	3	FAM135A	G	4	4
MDN1	23195	broad.mit.edu	37	6	90460071	90460071	+	Splice_Site	SNP	A	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90460071A>G	uc003pnn.1	-	24	3522	c.3406_splice	c.e24+1	p.G1136_splice		NM_014611	NP_055426			MDN1, midasin homolog						protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)														---	---	---	---	capture		Splice_Site	SNP	90460071	90460071	9804	6	A	G	G	14	14	MDN1	G	5	4
FIG4	9896	broad.mit.edu	37	6	110059612	110059612	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:110059612G>A	uc003ptt.2	+	7	946	c.731G>A	c.(730-732)CGT>CAT	p.R244H	FIG4_uc011eau.1_Intron	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Sac domain-containing inositol phosphatase 3	244	SAC.				cell death	endosome membrane	protein binding			ovary(1)	1		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)														---	---	---	---	capture		Missense_Mutation	SNP	110059612	110059612	6126	6	G	A	A	40	40	FIG4	A	1	1
ROS1	6098	broad.mit.edu	37	6	117631403	117631403	+	Missense_Mutation	SNP	T	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117631403T>C	uc003pxp.1	-	40	6474	c.6275A>G	c.(6274-6276)TAT>TGT	p.Y2092C	ROS1_uc011ebi.1_RNA	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	2092	Protein kinase.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)				T	GOPC|ROS1	glioblastoma|NSCLC								---	---	---	---	capture		Missense_Mutation	SNP	117631403	117631403	14010	6	T	C	C	49	49	ROS1	C	4	4
TRDN	10345	broad.mit.edu	37	6	123539799	123539799	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:123539799C>T	uc003pzj.1	-	41	2159	c.2137G>A	c.(2137-2139)GGA>AGA	p.G713R	TRDN_uc010kem.1_Missense_Mutation_p.G214R	NM_006073	NP_006064	Q13061	TRDN_HUMAN	triadin	713	Lumenal.				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)														---	---	---	---	capture		Missense_Mutation	SNP	123539799	123539799	17012	6	C	T	T	21	21	TRDN	T	2	2
L3MBTL3	84456	broad.mit.edu	37	6	130381241	130381241	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:130381241G>T	uc003qbt.2	+	10	990	c.820G>T	c.(820-822)GAT>TAT	p.D274Y	L3MBTL3_uc003qbu.2_Missense_Mutation_p.D249Y	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 isoform a	274	MBT 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)														---	---	---	---	capture		Missense_Mutation	SNP	130381241	130381241	8916	6	G	T	T	41	41	L3MBTL3	T	2	2
C6orf97	80129	broad.mit.edu	37	6	151939235	151939235	+	Missense_Mutation	SNP	A	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151939235A>G	uc003qol.2	+	11	2190	c.2101A>G	c.(2101-2103)ACT>GCT	p.T701A		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	701											0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)														---	---	---	---	capture		Missense_Mutation	SNP	151939235	151939235	2481	6	A	G	G	14	14	C6orf97	G	4	4
SYNE1	23345	broad.mit.edu	37	6	152541993	152541993	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152541993C>A	uc010kiw.2	-	119	22447	c.21845G>T	c.(21844-21846)TGG>TTG	p.W7282L	SYNE1_uc010kiv.2_Missense_Mutation_p.W1806L|SYNE1_uc003qos.3_Missense_Mutation_p.W1806L|SYNE1_uc003qot.3_Missense_Mutation_p.W7211L|SYNE1_uc003qou.3_Missense_Mutation_p.W7282L|SYNE1_uc003qor.3_Missense_Mutation_p.W182L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7282	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---	capture		Missense_Mutation	SNP	152541993	152541993	15966	6	C	A	A	21	21	SYNE1	A	2	2
C6orf118	168090	broad.mit.edu	37	6	165715151	165715151	+	Silent	SNP	A	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:165715151A>G	uc003qum.3	-	2	696	c.660T>C	c.(658-660)CGT>CGC	p.R220R	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	220											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)														---	---	---	---	capture		Silent	SNP	165715151	165715151	2425	6	A	G	G	2	2	C6orf118	G	4	4
RABGEF1	27342	broad.mit.edu	37	7	66273905	66273905	+	Silent	SNP	C	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:66273905C>T	uc011kee.1	+	9	1316	c.1152C>T	c.(1150-1152)GAC>GAT	p.D384D	RABGEF1_uc003tvf.2_Silent_p.D243D|RABGEF1_uc003tvg.2_Silent_p.D178D|RABGEF1_uc010lag.2_Silent_p.D370D|RABGEF1_uc003tvh.2_Silent_p.D370D|RABGEF1_uc003tvi.2_Silent_p.D204D	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	587	VPS9.				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	66273905	66273905	13425	7	C	T	T	19	19	RABGEF1	T	1	1
WBSCR17	64409	broad.mit.edu	37	7	71175784	71175784	+	Silent	SNP	T	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:71175784T>G	uc003tvy.2	+	10	1539	c.1539T>G	c.(1537-1539)GGT>GGG	p.G513G	WBSCR17_uc003tvz.2_Silent_p.G212G	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	513	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)																---	---	---	---	capture		Silent	SNP	71175784	71175784	17836	7	T	G	G	59	59	WBSCR17	G	4	4
ZNF804B	219578	broad.mit.edu	37	7	88956697	88956697	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:88956697G>A	uc011khi.1	+	3	827	c.289G>A	c.(289-291)GTA>ATA	p.V97I		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	97						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)			---	---	---	---	capture		Missense_Mutation	SNP	88956697	88956697	18769	7	G	A	A	48	48	ZNF804B	A	2	2
ZNF804B	219578	broad.mit.edu	37	7	88966152	88966152	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:88966152C>A	uc011khi.1	+	4	4394	c.3856C>A	c.(3856-3858)CTG>ATG	p.L1286M		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1286						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)			---	---	---	---	capture		Missense_Mutation	SNP	88966152	88966152	18769	7	C	A	A	32	32	ZNF804B	A	2	2
ASNS	440	broad.mit.edu	37	7	97488644	97488644	+	Missense_Mutation	SNP	T	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:97488644T>C	uc003uot.3	-	5	1060	c.554A>G	c.(553-555)TAT>TGT	p.Y185C	ASNS_uc011kin.1_Missense_Mutation_p.Y102C|ASNS_uc003uou.3_Missense_Mutation_p.Y185C|ASNS_uc003uov.3_Missense_Mutation_p.Y185C|ASNS_uc011kio.1_Missense_Mutation_p.Y164C|ASNS_uc003uow.3_Missense_Mutation_p.Y164C|ASNS_uc003uox.3_Missense_Mutation_p.Y102C	NM_133436	NP_597680	P08243	ASNS_HUMAN	asparagine synthetase	185	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---	capture		Missense_Mutation	SNP	97488644	97488644	1067	7	T	C	C	49	49	ASNS	C	4	4
ACTL6B	51412	broad.mit.edu	37	7	100246221	100246221	+	Silent	SNP	C	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100246221C>T	uc003uvy.2	-	7	734	c.627G>A	c.(625-627)GAG>GAA	p.E209E	ACTL6B_uc003uvx.1_5'UTR|ACTL6B_uc003uvz.2_RNA	NM_016188	NP_057272	O94805	ACL6B_HUMAN	actin-like 6B	209					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			ovary(1)	1	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)																	---	---	---	---	capture		Silent	SNP	100246221	100246221	200	7	C	T	T	32	32	ACTL6B	T	2	2
PPP1R3A	5506	broad.mit.edu	37	7	113518037	113518037	+	Nonsense_Mutation	SNP	G	T	T	rs145569602		TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:113518037G>T	uc010ljy.1	-	4	3141	c.3110C>A	c.(3109-3111)TCA>TAA	p.S1037*		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	1037					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34																		---	---	---	---	capture		Nonsense_Mutation	SNP	113518037	113518037	12806	7	G	T	T	45	45	PPP1R3A	T	5	2
TNPO3	23534	broad.mit.edu	37	7	128640534	128640534	+	Silent	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128640534G>A	uc003vol.1	-	7	1334	c.960C>T	c.(958-960)GAC>GAT	p.D320D	TNPO3_uc003vom.1_Silent_p.D254D|TNPO3_uc010lly.1_Silent_p.D320D|TNPO3_uc010llz.1_Silent_p.D320D	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	transportin 3	320					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			ovary(2)|skin(2)|lung(1)	5																		---	---	---	---	capture		Silent	SNP	128640534	128640534	16878	7	G	A	A	44	44	TNPO3	A	2	2
CHCHD3	54927	broad.mit.edu	37	7	132570425	132570425	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:132570425C>A	uc003vre.2	-	5	586	c.450G>T	c.(448-450)GAG>GAT	p.E150D	CHCHD3_uc010lmi.2_RNA|CHCHD3_uc003vrf.2_Missense_Mutation_p.E155D|CHCHD3_uc010lmj.2_Missense_Mutation_p.R13I	NM_017812	NP_060282	Q9NX63	CHCH3_HUMAN	coiled-coil-helix-coiled-coil-helix domain	150					inner mitochondrial membrane organization|mitochondrial fusion	mitochondrial inner membrane	protein complex scaffold				0																		---	---	---	---	capture		Missense_Mutation	SNP	132570425	132570425	3451	7	C	A	A	32	32	CHCHD3	A	2	2
LRGUK	136332	broad.mit.edu	37	7	133812132	133812132	+	Silent	SNP	C	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:133812132C>G	uc003vrm.1	+	1	28	c.12C>G	c.(10-12)TCC>TCG	p.S4S		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain	4							ATP binding|kinase activity			lung(2)|skin(2)|kidney(1)	5																		---	---	---	---	capture		Silent	SNP	133812132	133812132	9316	7	C	G	G	23	23	LRGUK	G	3	3
ZNF746	155061	broad.mit.edu	37	7	149171603	149171603	+	Missense_Mutation	SNP	T	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149171603T>C	uc003wfw.2	-	7	2078	c.1807A>G	c.(1807-1809)ACG>GCG	p.T603A	ZNF746_uc010lpi.2_Missense_Mutation_p.T604A	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	zinc finger protein 746 isoform 2	603					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|breast(1)	3	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)															---	---	---	---	capture		Missense_Mutation	SNP	149171603	149171603	18727	7	T	C	C	58	58	ZNF746	C	4	4
CHRNB3	1142	broad.mit.edu	37	8	42591652	42591652	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42591652C>T	uc003xpi.1	+	6	1396	c.1268C>T	c.(1267-1269)GCT>GTT	p.A423V		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	423	Cytoplasmic (Potential).				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)															---	---	---	---	capture		Missense_Mutation	SNP	42591652	42591652	3526	8	C	T	T	28	28	CHRNB3	T	2	2
POTEA	340441	broad.mit.edu	37	8	43147635	43147635	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:43147635C>T	uc003xpz.1	+	1	51	c.8C>T	c.(7-9)GCT>GTT	p.A3V	POTEA_uc003xqa.1_Missense_Mutation_p.A3V	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A isoform 2	3										ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	43147635	43147635	12690	8	C	T	T	28	28	POTEA	T	2	2
RP1	6101	broad.mit.edu	37	8	55542671	55542671	+	Nonsense_Mutation	SNP	C	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:55542671C>T	uc003xsd.1	+	4	6377	c.6229C>T	c.(6229-6231)CAG>TAG	p.Q2077*	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	2077					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)															---	---	---	---	capture		Nonsense_Mutation	SNP	55542671	55542671	14011	8	C	T	T	21	21	RP1	T	5	2
ZFHX4	79776	broad.mit.edu	37	8	77618877	77618877	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:77618877G>T	uc003yav.2	+	2	2941	c.2554G>T	c.(2554-2556)GAT>TAT	p.D852Y	ZFHX4_uc003yat.1_Missense_Mutation_p.D852Y|ZFHX4_uc003yau.1_Missense_Mutation_p.D852Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.D852Y	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	852						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)			---	---	---	---	capture		Missense_Mutation	SNP	77618877	77618877	18223	8	G	T	T	41	41	ZFHX4	T	2	2
KIAA1429	25962	broad.mit.edu	37	8	95507087	95507087	+	Splice_Site	SNP	C	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:95507087C>G	uc003ygo.1	-	20	4654	c.4641_splice	c.e20+1	p.L1547_splice	KIAA1429_uc010maz.1_Splice_Site	NM_015496	NP_056311			hypothetical protein LOC25962 isoform 1						mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)															---	---	---	---	capture		Splice_Site	SNP	95507087	95507087	8540	8	C	G	G	18	18	KIAA1429	G	5	3
CSMD3	114788	broad.mit.edu	37	8	113317078	113317078	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113317078G>T	uc003ynu.2	-	52	8297	c.8138C>A	c.(8137-8139)TCC>TAC	p.S2713Y	CSMD3_uc003yns.2_Missense_Mutation_p.S1915Y|CSMD3_uc003ynt.2_Missense_Mutation_p.S2673Y|CSMD3_uc011lhx.1_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2713	Extracellular (Potential).|Sushi 16.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---	capture		Missense_Mutation	SNP	113317078	113317078	4087	8	G	T	T	41	41	CSMD3	T	2	2
DMRT3	58524	broad.mit.edu	37	9	990301	990301	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:990301G>T	uc003zgw.1	+	2	753	c.715G>T	c.(715-717)GTT>TTT	p.V239F		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	239					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)														---	---	---	---	capture		Missense_Mutation	SNP	990301	990301	4767	9	G	T	T	48	48	DMRT3	T	2	2
BNC2	54796	broad.mit.edu	37	9	16583008	16583008	+	Nonsense_Mutation	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:16583008G>A	uc003zml.2	-	4	546	c.406C>T	c.(406-408)CAG>TAG	p.Q136*	BNC2_uc011lmw.1_Nonsense_Mutation_p.Q41*|BNC2_uc003zmm.2_Nonsense_Mutation_p.Q94*|BNC2_uc003zmq.1_Nonsense_Mutation_p.Q150*|BNC2_uc003zmr.1_Nonsense_Mutation_p.Q173*|BNC2_uc003zmp.1_Nonsense_Mutation_p.Q164*|BNC2_uc010mij.1_Nonsense_Mutation_p.Q58*|BNC2_uc003zmu.1_RNA|BNC2_uc010mim.1_RNA|BNC2_uc010min.1_RNA|BNC2_uc003zmo.1_Nonsense_Mutation_p.Q58*|BNC2_uc003zms.1_RNA|BNC2_uc010mik.1_RNA|BNC2_uc010mil.1_RNA|BNC2_uc003zmt.1_RNA	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)														---	---	---	---	capture		Nonsense_Mutation	SNP	16583008	16583008	1500	9	G	A	A	45	45	BNC2	A	5	2
KLHL9	55958	broad.mit.edu	37	9	21333559	21333559	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:21333559C>T	uc003zoy.2	-	1	1871	c.1300G>A	c.(1300-1302)GAA>AAA	p.E434K	KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	kelch-like 9	434	Kelch 3.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				ovary(3)|skin(1)	4				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)														---	---	---	---	capture		Missense_Mutation	SNP	21333559	21333559	8710	9	C	T	T	29	29	KLHL9	T	2	2
VPS13A	23230	broad.mit.edu	37	9	79842344	79842344	+	Missense_Mutation	SNP	A	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79842344A>T	uc004akr.2	+	16	1655	c.1395A>T	c.(1393-1395)TTA>TTT	p.L465F	VPS13A_uc004akp.3_Missense_Mutation_p.L465F|VPS13A_uc004akq.3_Missense_Mutation_p.L465F|VPS13A_uc004aks.2_Missense_Mutation_p.L465F	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	465					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10																		---	---	---	---	capture		Missense_Mutation	SNP	79842344	79842344	17756	9	A	T	T	14	14	VPS13A	T	4	4
C9orf153	389766	broad.mit.edu	37	9	88842793	88842793	+	Missense_Mutation	SNP	T	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:88842793T>G	uc004aoo.2	-	3	300	c.219A>C	c.(217-219)AGA>AGC	p.R73S	GOLM1_uc010mqd.1_Intron|C9orf153_uc004aon.2_Missense_Mutation_p.R73S	NM_001010907	NP_001010907	Q5TBE3	CI153_HUMAN	hypothetical protein LOC389766	73											0																		---	---	---	---	capture		Missense_Mutation	SNP	88842793	88842793	2578	9	T	G	G	54	54	C9orf153	G	4	4
ABCA1	19	broad.mit.edu	37	9	107599762	107599762	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107599762C>A	uc004bcl.2	-	10	1454	c.1141G>T	c.(1141-1143)GGG>TGG	p.G381W		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	381	Extracellular.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)													---	---	---	---	capture		Missense_Mutation	SNP	107599762	107599762	29	9	C	A	A	21	21	ABCA1	A	2	2
OR1J1	347168	broad.mit.edu	37	9	125239760	125239760	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125239760C>G	uc011lyu.1	-	1	446	c.446G>C	c.(445-447)TGG>TCG	p.W149S	OR1J2_uc004bmj.1_Intron	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J,	149	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	125239760	125239760	11365	9	C	G	G	21	21	OR1J1	G	3	3
NOTCH1	4851	broad.mit.edu	37	9	139404285	139404285	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139404285C>A	uc004chz.2	-	18	2869	c.2869G>T	c.(2869-2871)GGG>TGG	p.G957W	NOTCH1_uc004cia.1_Missense_Mutation_p.G187W	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	957	Extracellular (Potential).|EGF-like 25; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)				T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			---	---	---	---	capture		Missense_Mutation	SNP	139404285	139404285	10950	9	C	A	A	23	23	NOTCH1	A	1	1
NRARP	441478	broad.mit.edu	37	9	140196057	140196057	+	Silent	SNP	C	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140196057C>T	uc004cmo.2	-	1	647	c.324G>A	c.(322-324)AAG>AAA	p.K108K	C9orf167_uc011mew.1_Intron	NM_001004354	NP_001004354	Q7Z6K4	NRARP_HUMAN	NOTCH-regulated ankyrin repeat protein	108	ANK 2.				negative regulation of Notch signaling pathway|positive regulation of canonical Wnt receptor signaling pathway						0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.185)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273)														---	---	---	---	capture		Silent	SNP	140196057	140196057	11044	9	C	T	T	20	20	NRARP	T	2	2
MID1	4281	broad.mit.edu	37	X	10535112	10535112	+	Missense_Mutation	SNP	T	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:10535112T>C	uc004cte.3	-	2	667	c.476A>G	c.(475-477)CAT>CGT	p.H159R	MID1_uc004ctd.3_5'Flank|MID1_uc004ctg.3_Missense_Mutation_p.H159R|MID1_uc004cth.3_Missense_Mutation_p.H159R|MID1_uc004ctk.3_Missense_Mutation_p.H159R|MID1_uc004cti.3_Missense_Mutation_p.H159R|MID1_uc004ctj.3_Missense_Mutation_p.H159R|MID1_uc011mie.1_RNA|MID1_uc004ctm.1_Missense_Mutation_p.H159R|MID1_uc004ctn.1_Missense_Mutation_p.H159R|MID1_uc004cto.1_Missense_Mutation_p.H159R|MID1_uc010ndw.1_5'Flank|MID1_uc004cts.1_5'Flank|MID1_uc004ctt.2_Missense_Mutation_p.H159R|MID1_uc004ctu.2_Missense_Mutation_p.H159R|MID1_uc004ctv.2_Missense_Mutation_p.H159R|MID1_uc004ctw.2_Missense_Mutation_p.H159R|MID1_uc010ndy.1_Missense_Mutation_p.H159R|uc010ndz.1_5'Flank|MID1_uc004cty.2_Missense_Mutation_p.H159R|MID1_uc004ctz.1_5'Flank|MID1_uc004cua.1_RNA|MID1_uc004cub.1_Missense_Mutation_p.H159R|MID1_uc010nea.1_Intron|MID1_uc004cuc.1_Missense_Mutation_p.H159R|MID1_uc004cud.1_Missense_Mutation_p.H159R|MID1_uc004cue.1_Missense_Mutation_p.H159R|MID1_uc004cuf.1_Missense_Mutation_p.H159R|MID1_uc004cug.1_Missense_Mutation_p.H159R	NM_033290	NP_150632	O15344	TRI18_HUMAN	midline 1	159	B box-type 1.	Zinc 2.			microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|pancreas(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	10535112	10535112	9966	23	T	C	C	51	51	MID1	C	4	4
DMD	1756	broad.mit.edu	37	X	31514965	31514965	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:31514965G>T	uc004dda.1	-	57	8731	c.8487C>A	c.(8485-8487)AGC>AGA	p.S2829R	DMD_uc004dcq.1_Missense_Mutation_p.S100R|DMD_uc004dcr.1_Missense_Mutation_p.S369R|DMD_uc004dcs.1_Missense_Mutation_p.S369R|DMD_uc004dct.1_Missense_Mutation_p.S369R|DMD_uc004dcu.1_Missense_Mutation_p.S369R|DMD_uc004dcv.1_Missense_Mutation_p.S369R|DMD_uc004dcw.2_Missense_Mutation_p.S1485R|DMD_uc004dcx.2_Missense_Mutation_p.S1488R|DMD_uc004dcz.2_Missense_Mutation_p.S2706R|DMD_uc004dcy.1_Missense_Mutation_p.S2825R|DMD_uc004ddb.1_Missense_Mutation_p.S2821R	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2829	Spectrin 20.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)																---	---	---	---	capture		Missense_Mutation	SNP	31514965	31514965	4760	23	G	T	T	42	42	DMD	T	2	2
SHROOM4	57477	broad.mit.edu	37	X	50377041	50377041	+	Missense_Mutation	SNP	T	C	C			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:50377041T>C	uc004dpe.2	-	4	2058	c.2032A>G	c.(2032-2034)AGG>GGG	p.R678G	SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.R562G	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	678					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)																	---	---	---	---	capture		Missense_Mutation	SNP	50377041	50377041	14791	23	T	C	C	53	53	SHROOM4	C	4	4
TBX22	50945	broad.mit.edu	37	X	79281249	79281249	+	Silent	SNP	C	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:79281249C>A	uc010nmg.1	+	5	740	c.606C>A	c.(604-606)ACC>ACA	p.T202T	TBX22_uc004edi.1_Silent_p.T82T|TBX22_uc004edj.1_Silent_p.T202T	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	202	T-box.				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15																		---	---	---	---	capture		Silent	SNP	79281249	79281249	16184	23	C	A	A	21	21	TBX22	A	2	2
XIAP	331	broad.mit.edu	37	X	123040952	123040952	+	Missense_Mutation	SNP	A	G	G			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:123040952A>G	uc010nqu.2	+	7	1541	c.1415A>G	c.(1414-1416)AAA>AGA	p.K472R	XIAP_uc004etx.2_Missense_Mutation_p.K472R|XIAP_uc010nqv.2_Missense_Mutation_p.K98R	NM_001167	NP_001158	P98170	XIAP_HUMAN	baculoviral IAP repeat-containing protein 4	472	RING-type.				anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			ovary(1)|lung(1)	2														X-linked_Lymphoproliferative_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	123040952	123040952	18009	23	A	G	G	1	1	XIAP	G	4	4
GAB3	139716	broad.mit.edu	37	X	153927772	153927772	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5236-01	TCGA-34-5236-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153927772G>A	uc004fmj.1	-	6	1187	c.1139C>T	c.(1138-1140)CCG>CTG	p.P380L	GAB3_uc004fmk.1_Missense_Mutation_p.P381L|GAB3_uc010nve.1_Missense_Mutation_p.P381L|GAB3_uc004fml.1_5'UTR	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN	Gab3 protein isoform 2	380										ovary(1)	1	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)																	---	---	---	---	capture		Missense_Mutation	SNP	153927772	153927772	6401	23	G	A	A	39	39	GAB3	A	1	1
