Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_by_all_platform	validation_method	validation_tumor_sample
ACAP3	116983	broad.mit.edu	37	1	1233212	1233212	+	Missense_Mutation	SNP	C	C	G	rs146361230		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:1233212C>G	uc001aeb.2	-	14	1192	c.1118G>C	c.(1117-1119)TGC>TCC	p.C373S	ACAP3_uc001ady.2_Missense_Mutation_p.C103S|ACAP3_uc001aea.2_Missense_Mutation_p.C331S	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH	373					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding				0						CTCGCTATAGCAACTGTCAGG	0.682		NaN											0	0	0	0.013726	0	34	18				
SSU72	29101	broad.mit.edu	37	1	1479272	1479272	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:1479272G>A	uc001agd.2	-	4	785	c.460C>T	c.(460-462)CTC>TTC	p.L154F	SSU72_uc009vkg.1_Missense_Mutation_p.L154F	NM_014188	NP_054907	Q9NP77	SSU72_HUMAN	Ssu72 RNA polymerase II CTD phosphatase homolog	154					mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity				0	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TCACAGATGAGAAACGCCCCC	0.517		NaN											0	0	0	0.003755	0	36	101				
MMEL1	79258	broad.mit.edu	37	1	2529730	2529730	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:2529730C>T	uc001ajy.2	-	13	1402	c.1188G>A	c.(1186-1188)CAG>CAA	p.Q396Q	MMEL1_uc009vlg.1_RNA	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	396	Lumenal (Potential).				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity				0	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CCAGGTAGTTCTGTATGGTCC	0.582		NaN											0	0	0	0.008871	0	20	56				
MMEL1	79258	broad.mit.edu	37	1	2530149	2530149	+	Silent	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:2530149G>C	uc001ajy.2	-	12	1336	c.1122C>G	c.(1120-1122)GTC>GTG	p.V374V	MMEL1_uc009vlg.1_RNA	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	374	Lumenal (Potential).				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity				0	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGATGCCATAGACCACCACTT	0.517		NaN											0	0	0	0.012319	0	21	72				
PINK1	65018	broad.mit.edu	37	1	20972086	20972086	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:20972086G>A	uc001bdm.2	+	5	1087	c.993G>A	c.(991-993)GTG>GTA	p.V331V	PINK1_uc001bdn.2_Silent_p.V24V	NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1 precursor	331	Protein kinase.|Cytoplasmic (Potential).				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			ovary(2)|central_nervous_system(1)	3		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACCTTTGTGTGAACACACCCA	0.577		NaN											0	0	0	0.003954	0	24	54				
ARID1A	8289	broad.mit.edu	37	1	27106421	27106421	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:27106421T>G	uc001bmv.1	+	20	6405	c.6032T>G	c.(6031-6033)CTG>CGG	p.L2011R	ARID1A_uc001bmu.1_Missense_Mutation_p.L1794R|ARID1A_uc001bmx.1_Missense_Mutation_p.L857R|ARID1A_uc009vsm.1_Missense_Mutation_p.L339R|ARID1A_uc009vsn.1_Missense_Mutation_p.L253R	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	2011					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTGCTCATCCTGGGCAAGCTG	0.547		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.003755	0	35	77		Valid		
MAP3K6	9064	broad.mit.edu	37	1	27683085	27683085	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:27683085C>G	uc001bny.1	-	25	3769	c.3520G>C	c.(3520-3522)GAT>CAT	p.D1174H	MAP3K6_uc009vsw.1_Missense_Mutation_p.D1166H	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	1174	Potential.				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTTTACCGATCAGTCTCTGCC	0.647		NaN											0	0	0	0.004482	0	9	53				
KIAA1522	57648	broad.mit.edu	37	1	33236326	33236326	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:33236326G>C	uc001bvv.2	+	6	1505	c.1369G>C	c.(1369-1371)GAT>CAT	p.D457H	KIAA1522_uc001bvu.1_Missense_Mutation_p.D516H|KIAA1522_uc010ohm.1_Missense_Mutation_p.D468H|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	457	Pro-rich.										0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGCAGTGCCTGATGGGCCATT	0.682		NaN											0	0	0	0.010729	0	12	27				
STIL	6491	broad.mit.edu	37	1	47753284	47753284	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:47753284C>T	uc001crc.1	-	10	1227	c.1072G>A	c.(1072-1074)GAA>AAA	p.E358K	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.E311K|STIL_uc010omo.1_Missense_Mutation_p.E358K|STIL_uc001crd.1_Missense_Mutation_p.E358K|STIL_uc001cre.1_Missense_Mutation_p.E358K|STIL_uc001crg.1_Missense_Mutation_p.E311K	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	358					cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TTTTGGCTTTCAGCGCTCAGT	0.333		NaN											0	0	0	0.00632	0	25	26				
MAGOH	4116	broad.mit.edu	37	1	53699227	53699227	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:53699227C>T	uc001cvf.1	-	3	333	c.245G>A	c.(244-246)CGA>CAA	p.R82Q	MAGOH_uc010ont.1_Intron	NM_002370	NP_002361	P61326	MGN_HUMAN	mago-nashi homolog	82					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding				0						CCGGCCCACTCGGTCAGGAGG	0.453		NaN											0	0	0	0.01441	0	88	85				
PTPN22	26191	broad.mit.edu	37	1	114380326	114380326	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:114380326G>A	uc001eds.2	-	13	1826	c.1696C>T	c.(1696-1698)CTG>TTG	p.L566L	PTPN22_uc009wgq.2_Silent_p.L511L|PTPN22_uc010owo.1_Silent_p.L322L|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Silent_p.L566L|PTPN22_uc009wgs.2_Silent_p.L439L|PTPN22_uc001edu.2_Silent_p.L566L	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type	566					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			kidney(2)|lung(1)|skin(1)	4	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGGCAACAGAGAAGAAGGA	0.383		NaN											0	0	0	0.01441	0	77	45				
HSD3B1	3283	broad.mit.edu	37	1	120056930	120056930	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:120056930C>T	uc001ehv.1	+	4	929	c.784C>T	c.(784-786)CAC>TAC	p.H262Y	HSD3B1_uc001ehw.2_Missense_Mutation_p.H264Y	NM_000862	NP_000853	P14060	3BHS1_HUMAN	3 beta-hydroxysteroid dehydrogenase 1	262					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TGACACGCCTCACCAAAGCTA	0.522		NaN											0	0	0	0.01441	0	136	64				
TARS2	80222	broad.mit.edu	37	1	150479406	150479406	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:150479406G>A	uc001euq.2	+	18	2030	c.2023G>A	c.(2023-2025)GAG>AAG	p.E675K	TARS2_uc001eur.2_Missense_Mutation_p.E593K|TARS2_uc009wlt.2_Missense_Mutation_p.E301K|TARS2_uc009wls.2_Missense_Mutation_p.E545K|ECM1_uc010pce.1_5'Flank|ECM1_uc010pcf.1_5'Flank|ECM1_uc001eus.2_5'Flank|ECM1_uc001eut.2_5'Flank|ECM1_uc001euu.2_5'Flank|ECM1_uc001euv.2_5'Flank|ECM1_uc009wlu.2_5'Flank	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	675					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TGGCCAGAAAGAGCAAAGTAA	0.507		NaN											0	0	0	0.010818	0	29	188				
TARS2	80222	broad.mit.edu	37	1	150479442	150479442	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:150479442G>A	uc001euq.2	+	18	2066	c.2059G>A	c.(2059-2061)GAT>AAT	p.D687N	TARS2_uc001eur.2_Missense_Mutation_p.D605N|TARS2_uc009wlt.2_Missense_Mutation_p.D313N|TARS2_uc009wls.2_Missense_Mutation_p.D557N|ECM1_uc010pce.1_5'Flank|ECM1_uc010pcf.1_5'Flank|ECM1_uc001eus.2_5'Flank|ECM1_uc001eut.2_5'Flank|ECM1_uc001euu.2_5'Flank|ECM1_uc001euv.2_5'Flank|ECM1_uc009wlu.2_5'Flank	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	687					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TCGGACTCGAGATAATCGTCG	0.522		NaN											0	0	0	0.012213	0	35	186				
CKS1B	1163	broad.mit.edu	37	1	154951211	154951211	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:154951211C>T	uc001fgb.2	+	3	302	c.198C>T	c.(196-198)ATC>ATT	p.I66I	CKS1B_uc001fga.2_RNA	NM_001826	NP_001817	P61024	CKS1_HUMAN	CDC28 protein kinase 1B	66					cell division|cell proliferation|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	nucleoplasm	cyclin-dependent protein kinase regulator activity|protein binding				0	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AACCTCACATCTTGCTGTTCC	0.458		NaN											0	0	0	0.01441	0	48	3				
DCST2	127579	broad.mit.edu	37	1	154995910	154995910	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:154995910G>A	uc001fgm.2	-	13	1974	c.1894C>T	c.(1894-1896)CGC>TGC	p.R632C	DCST2_uc009wpb.2_RNA	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	632	Cytoplasmic (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCCAGGAGGCGGAAGCAAGTG	0.612		NaN											0	0	0	0.006214	0	8	25				
DCST2	127579	broad.mit.edu	37	1	154998788	154998788	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:154998788G>A	uc001fgm.2	-	10	1681	c.1601C>T	c.(1600-1602)TCC>TTC	p.S534F	DCST2_uc009wpb.2_RNA	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	534	Cytoplasmic (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTGCTCCCGGGATGGGTAGTA	0.617		NaN											0	0	0	0.009535	0	26	120				
CD5L	922	broad.mit.edu	37	1	157803224	157803224	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:157803224C>G	uc001frk.3	-	5	940	c.797G>C	c.(796-798)GGC>GCC	p.G266A		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	266	SRCR 3.				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)			ACAGACAGAGCCCCATACGCC	0.567		NaN											0	0	0	0.01441	0	47	129				
ATP1A2	477	broad.mit.edu	37	1	160094202	160094202	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:160094202C>G	uc001fvc.2	+	6	744	c.612C>G	c.(610-612)ATC>ATG	p.I204M	ATP1A2_uc001fvb.2_Missense_Mutation_p.I204M|ATP1A2_uc010piz.1_Missense_Mutation_p.I49M	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	204	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCCGGATCATCTCTTCTCATG	0.567		NaN											0	0	0	0.004482	0	9	38				
XPR1	9213	broad.mit.edu	37	1	180804041	180804041	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:180804041T>G	uc001goi.2	+	10	1358	c.1166T>G	c.(1165-1167)GTA>GGA	p.V389G	XPR1_uc009wxm.2_Missense_Mutation_p.V389G|XPR1_uc009wxn.2_Missense_Mutation_p.V389G	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor	389	Helical; (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0						TTCCATAAGGTAGGCTTTGCT	0.403		NaN											0	0	0	0.00499	0	17	98				
PRG4	10216	broad.mit.edu	37	1	186270750	186270750	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:186270750G>A	uc001gru.3	+	4	277	c.226G>A	c.(226-228)GAG>AAG	p.E76K	PRG4_uc001grt.3_Missense_Mutation_p.E35K|PRG4_uc009wyl.2_Missense_Mutation_p.E76K|PRG4_uc009wym.2_Missense_Mutation_p.E35K|PRG4_uc010poo.1_RNA	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	76	SMB 2.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CCGCTGCTTTGAGTCCTTCGA	0.448		NaN											0	0	0	0.01441	0	114	0				
PRG4	10216	broad.mit.edu	37	1	186270756	186270756	+	Missense_Mutation	SNP	T	T	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:186270756T>A	uc001gru.3	+	4	283	c.232T>A	c.(232-234)TTC>ATC	p.F78I	PRG4_uc001grt.3_Missense_Mutation_p.F37I|PRG4_uc009wyl.2_Missense_Mutation_p.F78I|PRG4_uc009wym.2_Missense_Mutation_p.F37I|PRG4_uc010poo.1_RNA	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	78	SMB 2.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CTTTGAGTCCTTCGAGAGAGG	0.463		NaN											0	0	0	0.01441	0	115	0				
KCNT2	343450	broad.mit.edu	37	1	196250089	196250089	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:196250089G>A	uc001gtd.1	-	25	2871	c.2811C>T	c.(2809-2811)ATC>ATT	p.I937I	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.I863I|KCNT2_uc001gtf.1_Silent_p.I913I|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Silent_p.I913I|KCNT2_uc001gth.1_Silent_p.I434I	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	937	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						CATAAGTTCTGATCCATAAGT	0.343		NaN											0	0	0	0.01441	0	91	2				
ELF3	1999	broad.mit.edu	37	1	201984345	201984345	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:201984345A>G	uc001gxg.3	+	8	4202	c.1010A>G	c.(1009-1011)TAC>TGC	p.Y337C	ELF3_uc001gxi.3_Missense_Mutation_p.Y337C|ELF3_uc001gxh.3_Missense_Mutation_p.Y337C	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	337	ETS.			RYYY->AAAA: Partially abrogates repressive effect on the KRT4 promoter.	epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0						AGGTACTACTACAAACGGGAG	0.597		NaN											0	0	0	0.01441	0	100	2		Valid		
AVPR1B	553	broad.mit.edu	37	1	206225298	206225298	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:206225298C>T	uc001hds.2	+	1	1016	c.858C>T	c.(856-858)ATC>ATT	p.I286I		NM_000707	NP_000698	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	286	Helical; Name=6; (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			ovary(2)|large_intestine(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCTTTGTCATCGTGCTGGCCT	0.572		NaN											0	0	0	0.01441	0	72	54				
PCNXL2	80003	broad.mit.edu	37	1	233134081	233134081	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:233134081C>G	uc001hvl.2	-	32	5942	c.5707G>C	c.(5707-5709)GGC>CGC	p.G1903R	PCNXL2_uc001hvk.1_Missense_Mutation_p.G555R|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1903						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				TCCTGGCTGCCACCACTCGGG	0.637		NaN											0	0	0	0.00333	0	21	45				
OR2T4	127074	broad.mit.edu	37	1	248525926	248525926	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:248525926G>A	uc001ieh.1	+	1	1044	c.1044G>A	c.(1042-1044)GAG>GAA	p.E348E		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	348	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAGCTATGGAGTAGACCATTT	0.403		NaN											0	0	0	0.01441	0	158	6				
ITGA8	8516	broad.mit.edu	37	10	15701026	15701026	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:15701026G>A	uc001ioc.1	-	10	920	c.920C>T	c.(919-921)ACG>ATG	p.T307M	ITGA8_uc010qcb.1_Missense_Mutation_p.T292M	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	307	Extracellular (Potential).|FG-GAP 4.				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						CTGAATAAACGTCATATCCGT	0.318		NaN											0	0	0	0.001855	0	12	31				
WAC	51322	broad.mit.edu	37	10	28884845	28884845	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:28884845C>G	uc001iuf.2	+	7	879	c.794C>G	c.(793-795)TCT>TGT	p.S265C	WAC_uc001iud.2_Missense_Mutation_p.S220C|WAC_uc001iue.2_Intron|WAC_uc009xlb.2_Missense_Mutation_p.S220C|WAC_uc001iug.2_Intron|WAC_uc001iuh.2_Missense_Mutation_p.S220C	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	265					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2						ACTGTTCCTTCTAGTCCATTT	0.463		NaN											0	0	0	0.01441	0	49	127				
WAC	51322	broad.mit.edu	37	10	28906604	28906604	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:28906604G>C	uc001iuf.2	+	13	1850	c.1765G>C	c.(1765-1767)GAA>CAA	p.E589Q	WAC_uc001iud.2_Missense_Mutation_p.E544Q|WAC_uc001iue.2_Missense_Mutation_p.E279Q|WAC_uc001iug.2_Missense_Mutation_p.E486Q|WAC_uc001iuh.2_Missense_Mutation_p.E540Q	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	589					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2						ATTACGCGAAGAAGCGCATAA	0.289		NaN											0	0	0	0.001855	0	14	29				
WAC	51322	broad.mit.edu	37	10	28906611	28906611	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:28906611A>G	uc001iuf.2	+	13	1857	c.1772A>G	c.(1771-1773)CAT>CGT	p.H591R	WAC_uc001iud.2_Missense_Mutation_p.H546R|WAC_uc001iue.2_Missense_Mutation_p.H281R|WAC_uc001iug.2_Missense_Mutation_p.H488R|WAC_uc001iuh.2_Missense_Mutation_p.H542R	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	591					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2						GAAGAAGCGCATAACATGGGA	0.299		NaN											0	0	0	0.006122	0	17	29				
A1CF	29974	broad.mit.edu	37	10	52601629	52601629	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:52601629C>T	uc001jjj.2	-	5	546	c.358G>A	c.(358-360)GAA>AAA	p.E120K	A1CF_uc010qhn.1_Missense_Mutation_p.E128K|A1CF_uc001jji.2_Missense_Mutation_p.E120K|A1CF_uc001jjh.2_Missense_Mutation_p.E128K|A1CF_uc010qho.1_Missense_Mutation_p.E128K|A1CF_uc009xov.2_Missense_Mutation_p.E120K|A1CF_uc001jjk.1_Missense_Mutation_p.E120K	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	apobec-1 complementation factor isoform 2	120	RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			central_nervous_system(1)	1						TACCTAATTTCATAATTATTA	0.318		NaN											0	0	0	0.004007	0	13	36				
ANK3	288	broad.mit.edu	37	10	61830970	61830970	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:61830970C>T	uc001jky.2	-	37	9861	c.9669G>A	c.(9667-9669)GTG>GTA	p.V3223V	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	3223					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						CTGTTTCCTCCACTGTAGTCT	0.473		NaN											0	0	0	0.001168	0	6	202				
ANK3	288	broad.mit.edu	37	10	61836204	61836204	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:61836204C>T	uc001jky.2	-	37	4627	c.4435G>A	c.(4435-4437)GAA>AAA	p.E1479K	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron|ANK3_uc009xpc.1_RNA	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1479					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						GTACTCCGTTCAACTGTTTCT	0.378		NaN											0	0	0	0.007291	0	30	10				
JMJD1C	221037	broad.mit.edu	37	10	64960429	64960429	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:64960429G>A	uc001jmn.2	-	11	5383	c.5083C>T	c.(5083-5085)CCT>TCT	p.P1695S	JMJD1C_uc001jml.2_Missense_Mutation_p.P1476S|JMJD1C_uc001jmm.2_Missense_Mutation_p.P1407S|JMJD1C_uc010qiq.1_Missense_Mutation_p.P1513S|JMJD1C_uc009xpi.2_Missense_Mutation_p.P1513S|JMJD1C_uc009xpj.1_Intron|JMJD1C_uc009xpk.1_Intron	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1695					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					ACTGAACGAGGAATGCCAGCT	0.373		NaN											0	0	0	0.00308	0	8	29				
PPRC1	23082	broad.mit.edu	37	10	103906993	103906993	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:103906993C>T	uc001kum.2	+	9	4283	c.4244C>T	c.(4243-4245)TCA>TTA	p.S1415L	PPRC1_uc001kun.2_Missense_Mutation_p.S1295L|PPRC1_uc010qqj.1_Intron|PPRC1_uc009xxa.2_Intron	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	1415	Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCCAGCCCCTCAAGCCAGGGC	0.612		NaN											0	0	0	0.01441	0	68	35				
PDCD11	22984	broad.mit.edu	37	10	105202183	105202183	+	Missense_Mutation	SNP	G	G	A	rs140495953		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:105202183G>A	uc001kwy.1	+	32	5008	c.4921G>A	c.(4921-4923)GTG>ATG	p.V1641M		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1641					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)		GGCCCGTGCCGTGGCTGAGAG	0.587		NaN											0	0	0	0.01441	0	80	43				
ACADSB	36	broad.mit.edu	37	10	124813245	124813245	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:124813245G>A	uc001lhb.2	+	11	1380	c.1263G>A	c.(1261-1263)TTG>TTA	p.L421L	ACADSB_uc010qub.1_Silent_p.L319L	NM_001609	NP_001600	P45954	ACDSB_HUMAN	acyl-Coenzyme A dehydrogenase, short/branched	421					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	ACATCCAGTTGAACACCATTG	0.398		NaN											0	0	0	0.005443	0	23	93				
CHST15	51363	broad.mit.edu	37	10	125801927	125801927	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:125801927T>G	uc001lhl.2	-	3	1436	c.923A>C	c.(922-924)TAT>TCT	p.Y308S	CHST15_uc001lhm.2_Missense_Mutation_p.Y308S|CHST15_uc001lhn.2_Missense_Mutation_p.Y308S|CHST15_uc010que.1_Missense_Mutation_p.Y308S|CHST15_uc001lho.2_Missense_Mutation_p.Y308S	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	B cell RAG associated protein	308	Lumenal (Potential).				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			ovary(1)	1						TTCCACGGGATAGCGGTCTCG	0.537		NaN											0	0	0	0.005524	0	41	32				
FANK1	92565	broad.mit.edu	37	10	127697960	127697960	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:127697960G>C	uc001ljh.3	+	11	1095	c.991G>C	c.(991-993)GAA>CAA	p.E331Q	FANK1_uc009yan.2_Missense_Mutation_p.E357Q|FANK1_uc001lji.2_3'UTR	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains	331						cytoplasm|nucleus				ovary(1)	1		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				CTCCTTATTAGAAGAAAGGAA	0.413		NaN											0	0	0	0.006122	0	19	51				
IGF2	3481	broad.mit.edu	37	11	2154863	2154863	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:2154863G>A	uc009yde.2	-	3	293	c.190C>T	c.(190-192)CGT>TGT	p.R64C	IGF2_uc001lvf.2_RNA|IGF2_uc001lvg.2_Missense_Mutation_p.R64C|IGF2_uc009ydf.2_Missense_Mutation_p.R120C|IGF2_uc001lvh.2_Missense_Mutation_p.R64C|INS-IGF2_uc001lvi.2_RNA	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	insulin-like growth factor 2 isoform 1	64	C.				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)	1		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		ACGATGCCACGGCTGCGACGG	0.662		NaN											0	0	0	0.010729	0	11	35				
DNHD1	144132	broad.mit.edu	37	11	6590023	6590023	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:6590023C>G	uc001mdw.3	+	39	13354	c.12790C>G	c.(12790-12792)CTG>GTG	p.L4264V	DNHD1_uc001mea.3_Missense_Mutation_p.L533V|DNHD1_uc001meb.2_Missense_Mutation_p.L532V|DNHD1_uc001mec.2_Missense_Mutation_p.L532V|DNHD1_uc010rao.1_Missense_Mutation_p.L522V|DNHD1_uc009yfg.2_5'UTR	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	4264					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGCACTACCTCTGCTCCTCCT	0.602		NaN											0	0	0	0.00499	0	17	14				
RBMXL2	27288	broad.mit.edu	37	11	7111126	7111126	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:7111126G>A	uc001mfc.2	+	1	962	c.775G>A	c.(775-777)GAC>AAC	p.D259N		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	259	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGCTACAGCGACCGAGACGG	0.662		NaN											0	0	0	0.014323	0	19	46				
PIK3C2A	5286	broad.mit.edu	37	11	17113138	17113138	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:17113138G>A	uc001mmq.3	-	30	4774	c.4708C>T	c.(4708-4710)CGA>TGA	p.R1570*	PIK3C2A_uc009ygu.1_Nonsense_Mutation_p.R173*|PIK3C2A_uc010rcw.1_Nonsense_Mutation_p.R1190*|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	1570	C2.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	GTACCATTTCGGTAAGAGATG	0.388		NaN											0	0	0	0.009718	0	42	33				
TCP11L1	55346	broad.mit.edu	37	11	33078731	33078731	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:33078731G>T	uc001mud.2	+	4	767	c.367G>T	c.(367-369)GAT>TAT	p.D123Y	TCP11L1_uc009yju.2_5'UTR|TCP11L1_uc010rei.1_Missense_Mutation_p.D123Y|TCP11L1_uc001mue.2_Missense_Mutation_p.D123Y|TCP11L1_uc001muf.1_5'Flank	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN	t-complex 11 (mouse) like 1	123											0						GCTAAGTGAAGATCCCCCAGC	0.433		NaN											1	0	3.94896e-32	0.01441	4.44853e-32	70	181				
HIPK3	10114	broad.mit.edu	37	11	33369461	33369461	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:33369461G>A	uc001mul.1	+	11	2478	c.2208G>A	c.(2206-2208)CAG>CAA	p.Q736Q	HIPK3_uc001mum.1_Silent_p.Q736Q|HIPK3_uc009yjv.1_Silent_p.Q736Q	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	736					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						TGACCAATCAGATAACTTTAT	0.438		NaN											0	0	0	0.004878	0	39	90				
MTCH2	23788	broad.mit.edu	37	11	47653256	47653256	+	Missense_Mutation	SNP	C	C	G	rs144753500	byFrequency	TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:47653256C>G	uc010rho.1	-	6	566	c.377G>C	c.(376-378)CGA>CCA	p.R126P	MTCH2_uc001nge.2_5'UTR|MTCH2_uc010rhp.1_Intron	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	126	Solcar 2.				transport	integral to membrane|mitochondrial inner membrane					0						GATCATCTCTCGAGTTGTCTA	0.423		NaN											0	0	0	0.010504	0	22	71				
ARAP1	116985	broad.mit.edu	37	11	72423574	72423574	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:72423574C>A	uc001osu.2	-	6	976	c.787G>T	c.(787-789)GTG>TTG	p.V263L	ARAP1_uc001osv.2_Missense_Mutation_p.V263L|ARAP1_uc001osr.2_Missense_Mutation_p.V23L|ARAP1_uc001oss.2_Missense_Mutation_p.V18L|ARAP1_uc009yth.2_Missense_Mutation_p.V18L|ARAP1_uc010rre.1_Missense_Mutation_p.V18L	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	263					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						AGACTGGCCACGCGCACGGCC	0.657		NaN											1	0	3.73298e-82	0.01441	4.3766e-82	138	80				
XRRA1	143570	broad.mit.edu	37	11	74641373	74641373	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:74641373G>C	uc009yub.2	-	6	704	c.372C>G	c.(370-372)ATC>ATG	p.I124M	XRRA1_uc001ovm.2_RNA|XRRA1_uc001ovo.2_Translation_Start_Site|XRRA1_uc001ovq.3_Missense_Mutation_p.I124M|XRRA1_uc001ovp.3_Translation_Start_Site|XRRA1_uc001ovr.2_Translation_Start_Site	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	124	LRR 1.				response to X-ray	cytoplasm|nucleus				central_nervous_system(1)	1						CTGAGGCATTGATATAAATCA	0.393		NaN											0	0	0	0.004672	0	2	5				
MOGAT2	80168	broad.mit.edu	37	11	75439964	75439964	+	Silent	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:75439964C>G	uc010rru.1	+	5	780	c.780C>G	c.(778-780)CTC>CTG	p.L260L	MOGAT2_uc001oww.1_3'UTR|MOGAT2_uc010rrv.1_Silent_p.L178L	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	260					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			ovary(2)	2	Ovarian(111;0.103)					CCCTCCCACTCTTTCATGGCC	0.537		NaN											0	0	0	0.01441	0	82	46				
NOX4	50507	broad.mit.edu	37	11	89184974	89184974	+	Silent	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:89184974A>G	uc001pct.2	-	3	482	c.243T>C	c.(241-243)GCT>GCC	p.A81A	NOX4_uc009yvr.2_Silent_p.A56A|NOX4_uc001pcu.2_Silent_p.A7A|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Silent_p.A81A|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Intron|NOX4_uc009yvp.2_Silent_p.A81A|NOX4_uc010rtv.1_Silent_p.A57A|NOX4_uc009yvq.2_Silent_p.A57A|NOX4_uc009yvs.1_RNA	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4 isoform a	81	Ferric oxidoreductase.|Helical; (Potential).				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CTCGGAGGTAAGCCAAGAGTG	0.408		NaN											0	0	0	0.013537	0	13	90				
CASP1	834	broad.mit.edu	37	11	104897665	104897665	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:104897665C>T	uc010rve.1	-	8	1037	c.1020G>A	c.(1018-1020)TGG>TGA	p.W340*	CASP1_uc001pig.2_Nonsense_Mutation_p.W247*|CASP1_uc001pik.2_Nonsense_Mutation_p.W303*|CASP1_uc010rvf.1_Nonsense_Mutation_p.W247*|CASP1_uc010rvg.1_Nonsense_Mutation_p.W319*|CASP1_uc010rvh.1_Nonsense_Mutation_p.W199*|CASP1_uc010rvi.1_Nonsense_Mutation_p.W24*|CASP1_uc001pim.3_Nonsense_Mutation_p.W340*|CASP1_uc009yxi.2_Nonsense_Mutation_p.W319*|CASP1_uc010rvj.1_Nonsense_Mutation_p.W340*|CASP1_uc009yxj.2_Nonsense_Mutation_p.W185*|CASP1_uc010rvk.1_3'UTR	NM_033292	NP_150634	P29466	CASP1_HUMAN	caspase 1 isoform alpha precursor	340					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			ovary(2)	2		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TGGGATGTCTCCAAGAAACAT	0.403		NaN											0	0	0	0.013114	0	46	29				
BCO2	83875	broad.mit.edu	37	11	112050172	112050172	+	Missense_Mutation	SNP	T	T	C	rs112483486	byFrequency	TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:112050172T>C	uc001pnf.2	+	2	377	c.260T>C	c.(259-261)ATT>ACT	p.I87T	BCO2_uc001pne.1_Intron|BCO2_uc001png.2_Missense_Mutation_p.I87T|BCO2_uc001pnh.2_Missense_Mutation_p.I53T|BCO2_uc010rwt.1_Intron|BCO2_uc009yyn.2_Missense_Mutation_p.I53T|BCO2_uc001pni.2_Missense_Mutation_p.I53T	NM_031938	NP_114144	Q9BYV7	BCDO2_HUMAN	beta-carotene dioxygenase 2 isoform a	87					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						CTACTTCGAATTGGACCTGGG	0.493		NaN											0	0	0	0.009096	0	4	97				
SPA17	53340	broad.mit.edu	37	11	124561605	124561605	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:124561605C>A	uc001qap.2	+	4	375	c.239C>A	c.(238-240)CCT>CAT	p.P80H		NM_017425	NP_059121	Q15506	SP17_HUMAN	sperm autoantigenic protein 17	80					binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		CAAGAACCACCTGAGAAAAGT	0.378		NaN											1	0	9.52127e-25	0.01441	1.06297e-24	49	32				
SRPR	6734	broad.mit.edu	37	11	126135303	126135303	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:126135303C>G	uc001qdh.2	-	10	1222	c.1171G>C	c.(1171-1173)GAG>CAG	p.E391Q	SRPR_uc010sbm.1_Missense_Mutation_p.E363Q	NM_003139	NP_003130	P08240	SRPR_HUMAN	signal recognition particle receptor	391					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding				0	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		ACCAGGGACTCCTGTAGGGCT	0.557		NaN											0	0	0	0.01441	0	49	31				
PDE3A	5139	broad.mit.edu	37	12	20786637	20786637	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:20786637C>A	uc001reh.1	+	7	1793	c.1771C>A	c.(1771-1773)CCA>ACA	p.P591T		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	591					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTGTGGCAGACCATATTCCCA	0.418		NaN											1	0	2.48551e-13	0.00499	2.66355e-13	18	27				
C12orf11	55726	broad.mit.edu	37	12	27068949	27068949	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:27068949C>T	uc001rhk.3	-	11	1771	c.1234G>A	c.(1234-1236)GAC>AAC	p.D412N	C12orf11_uc001rhj.3_Missense_Mutation_p.D37N|C12orf11_uc010sjk.1_Missense_Mutation_p.D311N	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	hypothetical protein LOC55726	412					cell division|mitosis|regulation of mitotic cell cycle		protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Colorectal(261;0.0847)					ATCCGGTAGTCTGTAACTCTT	0.299		NaN											0	0	0	0.012213	0	32	29				
PTHLH	5744	broad.mit.edu	37	12	28116576	28116576	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:28116576C>G	uc001rik.2	-	3	532	c.229G>C	c.(229-231)GAG>CAG	p.E77Q	PTHLH_uc001ril.2_Missense_Mutation_p.E77Q|PTHLH_uc001rim.2_Missense_Mutation_p.E77Q|PTHLH_uc001rin.2_Missense_Mutation_p.E77Q	NM_198966	NP_945317	P12272	PTHR_HUMAN	parathyroid hormone-like hormone isoform 1	77					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)	1	Lung SC(9;0.184)					GGGGACACCTCCGAGGTAGCT	0.507		NaN											0	0	0	0.004289	0	34	299				
DENND5B	160518	broad.mit.edu	37	12	31568364	31568364	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:31568364C>T	uc001rki.1	-	12	2675	c.2489G>A	c.(2488-2490)AGA>AAA	p.R830K	DENND5B_uc001rkh.1_Missense_Mutation_p.R865K|DENND5B_uc009zjq.1_Intron	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	830	RUN 1.					integral to membrane				ovary(1)|central_nervous_system(1)	2						AGATTTTCTTCTTTCTGGTCC	0.333		NaN											0	0	0	0.000602	0	4	23				
C12orf35	55196	broad.mit.edu	37	12	32140179	32140179	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:32140179G>C	uc001rks.2	+	5	5423	c.5009G>C	c.(5008-5010)GGA>GCA	p.G1670A	C12orf35_uc001rkt.2_RNA	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	1670										ovary(1)|skin(1)	2	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			ATAGTTTCAGGAATAAAAAGT	0.289		NaN											0	0	0	0.006214	0	10	35				
PDZRN4	29951	broad.mit.edu	37	12	41966494	41966494	+	Missense_Mutation	SNP	G	G	A	rs138042494	byFrequency	TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:41966494G>A	uc010skn.1	+	10	1384	c.1316G>A	c.(1315-1317)CGA>CAA	p.R439Q	PDZRN4_uc001rmq.3_Missense_Mutation_p.R380Q|PDZRN4_uc009zjz.2_Missense_Mutation_p.R378Q|PDZRN4_uc001rmr.2_Missense_Mutation_p.R265Q	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	638							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TGCAAGATTCGAAATCATGGA	0.453		NaN											0	0	0	0.01441	0	64	32				
TUBA1C	84790	broad.mit.edu	37	12	49666750	49666750	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:49666750C>A	uc001rtt.1	+	4	1190	c.1090C>A	c.(1090-1092)CCT>ACT	p.P364T	TUBA1C_uc001rts.2_Missense_Mutation_p.P329T|TUBA1C_uc010smh.1_Missense_Mutation_p.P434T|uc010smi.1_5'UTR	NM_032704	NP_116093	Q9BQE3	TBA1C_HUMAN	tubulin alpha 6	364					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity				0						CACTGTGGTGCCTGGCGGAGA	0.562		NaN											1	0	1.15062e-32	0.01441	1.30009e-32	74	48				
PRPH	5630	broad.mit.edu	37	12	49691240	49691240	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:49691240G>C	uc001rtu.2	+	6	1172	c.1097G>C	c.(1096-1098)CGA>CCA	p.R366P		NM_006262	NP_006253	P41219	PERI_HUMAN	peripherin	366	Coil 2.|Rod.						structural molecule activity				0						GAGGAGCTGCGACAGCTAAAA	0.652		NaN									OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010729	0	10	16				
AQP2	359	broad.mit.edu	37	12	50344837	50344837	+	Missense_Mutation	SNP	G	G	T	rs144443773		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:50344837G>T	uc001rvn.2	+	1	314	c.224G>T	c.(223-225)TGC>TTC	p.C75F		NM_000486	NP_000477	P41181	AQP2_HUMAN	aquaporin 2	75	Cytoplasmic (Potential).				cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			ovary(2)	2						ACTGTGGCCTGCCTGGTGGGC	0.647		NaN											1	0	3.07112e-06	0.010729	3.18171e-06	11	40				
KRT83	3889	broad.mit.edu	37	12	52713085	52713085	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:52713085C>G	uc001saf.2	-	2	511	c.448G>C	c.(448-450)GAG>CAG	p.E150Q		NM_002282	NP_002273	P78385	KRT83_HUMAN	keratin 83	150	Rod.|Linker 1.				epidermis development	keratin filament	structural molecule activity			skin(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGCAGCACTCGCGGTTTTGG	0.607		NaN											0	0	0	0.01441	0	111	62				
KRT85	3891	broad.mit.edu	37	12	52758102	52758102	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:52758102G>A	uc001sag.2	-	3	798	c.678C>T	c.(676-678)GTC>GTT	p.V226V		NM_002283	NP_002274	P78386	KRT85_HUMAN	keratin 85	226	Rod.|Coil 1B.				epidermis development	keratin filament	protein binding|structural molecule activity			ovary(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTTTAGAACGACAAACTCAT	0.572		NaN											0	0	0	0.01441	0	55	42				
KRT82	3888	broad.mit.edu	37	12	52788848	52788848	+	Missense_Mutation	SNP	C	C	T	rs140708995		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:52788848C>T	uc001sai.1	-	9	1568	c.1453G>A	c.(1453-1455)GAG>AAG	p.E485K		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	keratin 82	485	Tail.					keratin filament	protein binding|structural constituent of epidermis			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.193)		CCCTGGGGCTCGCAGGGGACA	0.642		NaN											0	0	0	0.009535	0	29	73				
ERBB3	2065	broad.mit.edu	37	12	56478854	56478854	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:56478854G>T	uc001sjh.2	+	3	503	c.310G>T	c.(310-312)GTG>TTG	p.V104L	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.V45L|ERBB3_uc001sjg.2_Missense_Mutation_p.V104L	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	104	Extracellular (Potential).		V -> M (in an ovarian mucinous carcinoma sample; somatic mutation).		cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.V104M(1)		lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517		NaN											1	0	1.00155e-58	0.01441	1.16692e-58	94	70		Valid		
ZC3H10	84872	broad.mit.edu	37	12	56515127	56515127	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:56515127C>T	uc001sjp.1	+	3	970	c.781C>T	c.(781-783)CTG>TTG	p.L261L		NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	261	Potential.						nucleic acid binding|zinc ion binding				0			OV - Ovarian serous cystadenocarcinoma(18;0.12)			GGTCAGCAACCTGCTGGCCAC	0.552		NaN											0	0	0	0.004878	0	36	78				
TIMELESS	8914	broad.mit.edu	37	12	56818910	56818910	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:56818910C>T	uc001slf.2	-	14	1773	c.1605G>A	c.(1603-1605)AAG>AAA	p.K535K		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	535					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						Ccttcttcttcttcttccttc	0.418		NaN											0	0	0	0.01441	0	67	36				
GLI1	2735	broad.mit.edu	37	12	57864227	57864227	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:57864227C>T	uc001snx.2	+	12	1782	c.1704C>T	c.(1702-1704)GGC>GGT	p.G568G	GLI1_uc009zpq.2_Silent_p.G440G	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	568					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			TCCCCCCTGGCTCCCCACCAG	0.622		NaN											0	0	0	0.003954	0	23	100				
CDK4	1019	broad.mit.edu	37	12	58143281	58143281	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:58143281G>A	uc001spv.2	-	6	866	c.639C>T	c.(637-639)CTC>CTT	p.L213L	CDK4_uc010ssb.1_Silent_p.L93L|CDK4_uc001spw.2_RNA|uc010ssc.1_5'Flank	NM_000075	NP_000066	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	213	Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			lung(1)|breast(1)|central_nervous_system(1)	3	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TTCCACAGAAGAGAGGCCTAA	0.408		NaN	Mis			melanoma 			Hereditary_Melanoma				0	0	0	0.00245	0	13	39				
C12orf66	144577	broad.mit.edu	37	12	64588164	64588164	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:64588164G>A	uc001srw.3	-	3	855	c.796C>T	c.(796-798)CTT>TTT	p.L266F	C12orf66_uc009zql.2_Missense_Mutation_p.L213F	NM_152440	NP_689653	Q96MD2	CL066_HUMAN	hypothetical protein LOC144577	266										ovary(1)	1						AACTTGGCAAGAAGCATGTTT	0.463		NaN											0	0	0	0.01441	0	43	109				
C12orf56	115749	broad.mit.edu	37	12	64679744	64679744	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:64679744C>T	uc001ssa.3	-	5	730	c.730G>A	c.(730-732)GAT>AAT	p.D244N	uc001srx.2_Intron|C12orf56_uc001sry.2_5'UTR|C12orf56_uc001srz.2_5'UTR	NM_001099676	NP_001093146	Q8IXR9	CL056_HUMAN	hypothetical protein LOC115749	407											0			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		ACCAGCTCATCAACCCTTTGG	0.363		NaN											0	0	0	0.00308	0	8	13				
PRKAB1	5564	broad.mit.edu	37	12	120106160	120106160	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:120106160G>A	uc009zwu.2	+	2	214	c.111G>A	c.(109-111)CTG>CTA	p.L37L	PRKAB1_uc001txg.2_Silent_p.L37L	NM_006253	NP_006244	Q9Y478	AAKB1_HUMAN	AMP-activated protein kinase beta 1	37					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol					0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	CCAAGATCCTGATGGACAGCC	0.647		NaN											0	0	0	0.007291	0	27	15				
CIT	11113	broad.mit.edu	37	12	120214582	120214582	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:120214582G>A	uc001txi.1	-	14	1783	c.1730C>T	c.(1729-1731)TCA>TTA	p.S577L	CIT_uc001txh.1_Missense_Mutation_p.S111L|CIT_uc001txj.1_Missense_Mutation_p.S577L	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	577	Potential.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCTTCTTGCTGAGACAAGATC	0.448		NaN											0	0	0	0.01441	0	118	54				
TMEM132B	114795	broad.mit.edu	37	12	126138414	126138414	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:126138414G>A	uc001uhe.1	+	9	2403	c.2395G>A	c.(2395-2397)GGC>AGC	p.G799S	TMEM132B_uc001uhf.1_Missense_Mutation_p.G311S	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	799	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCACCAAGGAGGCAGCAATGA	0.458		NaN											0	0	0	0.010818	0	31	73				
RIMBP2	23504	broad.mit.edu	37	12	130923033	130923033	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:130923033G>A	uc001uil.2	-	9	1646	c.1482C>T	c.(1480-1482)ACC>ACT	p.T494T	RIMBP2_uc001uim.2_Silent_p.T402T|RIMBP2_uc001uin.1_Silent_p.T153T	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	494	Fibronectin type-III 3.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CAGCCTGGACGGTAACATCTT	0.672		NaN											0	0	0	0.00245	0	15	9				
SACS	26278	broad.mit.edu	37	13	23929191	23929191	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr13:23929191C>G	uc001uon.2	-	8	2149	c.1560G>C	c.(1558-1560)AAG>AAC	p.K520N	SACS_uc001uoo.2_Missense_Mutation_p.K373N|SACS_uc001uop.1_Missense_Mutation_p.K307N|SACS_uc001uoq.1_Missense_Mutation_p.K373N	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	520					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)		AATCAGAGCTCTTTTCCATCT	0.453		NaN											0	0	0	0.01441	0	63	112				
LAMP1	3916	broad.mit.edu	37	13	113975875	113975875	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr13:113975875C>T	uc001vtm.1	+	8	1228	c.947C>T	c.(946-948)CCT>CTT	p.P316L	LAMP1_uc010tka.1_Missense_Mutation_p.P263L	NM_005561	NP_005552	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	316	Lumenal (Potential).|Second lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				central_nervous_system(2)	2	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GTTGCAGACCCTGCCTTTAAA	0.522		NaN											0	0	0	0.01441	0	90	50				
OSGEP	55644	broad.mit.edu	37	14	20916071	20916071	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr14:20916071C>A	uc001vxf.2	-	8	1141	c.785G>T	c.(784-786)GGA>GTA	p.G262V		NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	O-sialoglycoprotein endopeptidase	262					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding				0	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		ACACCCCACTCCTCCCACAAT	0.473		NaN											1	0	5.07675e-46	0.01441	5.84216e-46	103	59				
ACIN1	22985	broad.mit.edu	37	14	23548812	23548812	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr14:23548812C>G	uc001wit.3	-	6	2234	c.1906G>C	c.(1906-1908)GAG>CAG	p.E636Q	ACIN1_uc001wis.3_Missense_Mutation_p.E318Q|ACIN1_uc010akg.2_Missense_Mutation_p.E636Q|ACIN1_uc010tnj.1_Missense_Mutation_p.E596Q	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	636	Ser-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GATCTGGACTCTGATGTTGAT	0.488		NaN											0	0	0	0.01441	0	95	106				
IRF9	10379	broad.mit.edu	37	14	24631433	24631433	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr14:24631433G>A	uc001wmq.2	+	2	207	c.80G>A	c.(79-81)GGA>GAA	p.G27E	RNF31_uc001wmp.2_RNA|IRF9_uc010alj.2_5'Flank	NM_006084	NP_006075	Q00978	IRF9_HUMAN	interferon-stimulated transcription factor 3,	27	IRF tryptophan pentad repeat.				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00853)		CAGTTTCCCGGAGTGTGCTGG	0.577		NaN											0	0	0	0.01441	0	63	76				
AKAP6	9472	broad.mit.edu	37	14	33291368	33291368	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr14:33291368C>T	uc001wrq.2	+	13	4519	c.4349C>T	c.(4348-4350)ACC>ATC	p.T1450I		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1450					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACCAAACATACCCCTGACTGT	0.373		NaN											0	0	0	0.007291	0	30	28				
MAP4K5	11183	broad.mit.edu	37	14	50910669	50910669	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr14:50910669T>G	uc001wya.2	-	19	1745	c.1425A>C	c.(1423-1425)AAA>AAC	p.K475N	MAP4K5_uc001wyb.2_Missense_Mutation_p.K475N|MAP4K5_uc010anv.1_Missense_Mutation_p.K475N|MAP4K5_uc001wyc.1_Missense_Mutation_p.K149N	NM_006575	NP_006566	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase	475					activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(1)	1	all_epithelial(31;0.000415)|Breast(41;0.0102)					GGAAGTCTCGTTTGTCCTTTT	0.353		NaN											0	0	0	0.001168	0	6	7				
TRIP11	9321	broad.mit.edu	37	14	92506013	92506013	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr14:92506013C>G	uc001xzy.2	-	1	805	c.17G>C	c.(16-18)GGG>GCG	p.G6A	TRIP11_uc001xzz.3_RNA	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	6					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		GCCGAGGCCCCCAAGCCAGGA	0.577		NaN	T	PDGFRB	AML								0	0	0	0.009096	0	4	9				
ATP10A	57194	broad.mit.edu	37	15	25958905	25958905	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:25958905G>A	uc010ayu.2	-	10	2366	c.2260C>T	c.(2260-2262)CGG>TGG	p.R754W		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	754	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGCGGGTGCCGGATCACCACT	0.607		NaN											0	0	0	0.007291	0	31	65				
HERC2	8924	broad.mit.edu	37	15	28375401	28375401	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:28375401A>G	uc001zbj.2	-	83	12816	c.12710T>C	c.(12709-12711)GTT>GCT	p.V4237A		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4237	RCC1 18.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGGCCTTCGAACATGGTCATC	0.552		NaN											0	0	0	0.01441	0	80	187				
CASC5	57082	broad.mit.edu	37	15	40939188	40939188	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:40939188G>A	uc010bbs.1	+	18	6249	c.6088G>A	c.(6088-6090)GAG>AAG	p.E2030K	CASC5_uc010bbt.1_Missense_Mutation_p.E2004K	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	2030	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.|Potential.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TATTTAGAATGAGAGGGAGAA	0.303		NaN											0	0	0	0.012319	0	22	27				
MAP1A	4130	broad.mit.edu	37	15	43815124	43815124	+	Missense_Mutation	SNP	A	A	C	rs2584715		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:43815124A>C	uc001zrt.2	+	4	1920	c.1453A>C	c.(1453-1455)AAA>CAA	p.K485Q		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	485	Lys-rich (basic).|9 X 3 AA repeats of K-K-[DE].					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGGAAGAGTCAAAATAGACAG	0.527		NaN											0	0	0	0.00308	0	8	33				
MAP1A	4130	broad.mit.edu	37	15	43815610	43815610	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:43815610G>A	uc001zrt.2	+	4	2406	c.1939G>A	c.(1939-1941)GAA>AAA	p.E647K		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	647						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AAGTGAACCTGAAGTAAAGGA	0.488		NaN											0	0	0	0.004007	0	15	27				
MAP1A	4130	broad.mit.edu	37	15	43815622	43815622	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:43815622G>A	uc001zrt.2	+	4	2418	c.1951G>A	c.(1951-1953)GAT>AAT	p.D651N		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	651						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGTAAAGGAGGATGTGATAGA	0.473		NaN											0	0	0	0.004007	0	15	26				
MAP1A	4130	broad.mit.edu	37	15	43816951	43816951	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:43816951C>T	uc001zrt.2	+	4	3747	c.3280C>T	c.(3280-3282)CAG>TAG	p.Q1094*		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1094						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GTTGCCAGCACAGGATAAAGC	0.542		NaN											0	0	0	0.001168	0	6	161				
DUOXA2	405753	broad.mit.edu	37	15	45408927	45408927	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:45408927G>A	uc001zuo.2	+	4	834	c.554G>A	c.(553-555)TGG>TAG	p.W185*	DUOX2_uc010bea.2_5'Flank|DUOX2_uc001zun.2_5'Flank|DUOXA2_uc010beb.2_RNA	NM_207581	NP_997464	Q1HG44	DOXA2_HUMAN	dual oxidase activator 2	185	Helical; (Potential).				protein transport	endoplasmic reticulum membrane|integral to membrane					0		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		GCCACGCTATGGTAAGTGCTG	0.642		NaN											0	0	0	0.010504	0	19	25				
LACTB	114294	broad.mit.edu	37	15	63433729	63433729	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:63433729G>A	uc002alw.2	+	6	1408	c.1369G>A	c.(1369-1371)GAG>AAG	p.E457K		NM_032857	NP_116246	P83111	LACTB_HUMAN	lactamase, beta isoform a	457						mitochondrion	hydrolase activity				0						TTGGGATAAAGAGGGTAAATA	0.433		NaN											0	0	0	0.007291	0	30	70				
SCAPER	49855	broad.mit.edu	37	15	76958034	76958034	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:76958034T>A	uc002bby.2	-	20	2664	c.2605A>T	c.(2605-2607)AAA>TAA	p.K869*	SCAPER_uc010bkr.2_Nonsense_Mutation_p.K177*|SCAPER_uc002bbx.2_Nonsense_Mutation_p.K623*|SCAPER_uc002bbz.1_Nonsense_Mutation_p.K740*|SCAPER_uc002bca.1_Nonsense_Mutation_p.K734*	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	868						endoplasmic reticulum|nucleus	zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3						GCTTTTTTTTTATTTTTTTGC	0.348		NaN											0	0	0	0.009096	0	3	2				
ZNF710	374655	broad.mit.edu	37	15	90617419	90617419	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:90617419C>T	uc002bov.1	+	4	1845	c.1722C>T	c.(1720-1722)CCC>CCT	p.P574P		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	574					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GCAGCAAGCCCTTCAAGTGCC	0.587		NaN											0	0	0	0.01441	0	49	29				
FES	2242	broad.mit.edu	37	15	91428341	91428341	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:91428341C>T	uc002bpv.2	+	2	162	c.66C>T	c.(64-66)GCC>GCT	p.A22A	FES_uc010uqj.1_Silent_p.A22A|FES_uc010uqk.1_Silent_p.A22A|FES_uc002bpw.2_RNA|FES_uc010bny.2_Silent_p.A22A|FES_uc002bpx.2_Silent_p.A22A|FES_uc002bpy.2_Silent_p.A22A	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	22	FCH.|Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGCAGGAGGCCGAGCTTCGTC	0.602		NaN											0	0	0	0.01441	0	78	125				
TTC23	64927	broad.mit.edu	37	15	99696485	99696485	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:99696485C>T	uc002bur.2	-	11	1542	c.1011G>A	c.(1009-1011)CTG>CTA	p.L337L	TTC23_uc002bus.2_Silent_p.L337L|TTC23_uc002but.2_Silent_p.L337L|TTC23_uc002buu.2_Silent_p.L337L|TTC23_uc002buv.2_Silent_p.L337L|TTC23_uc002bux.2_Silent_p.L337L|TTC23_uc002buw.2_Silent_p.L337L|TTC23_uc010boq.2_RNA|TTC23_uc002buy.2_Silent_p.L337L|TTC23_uc010bor.2_Silent_p.L337L|TTC23_uc002buz.2_Silent_p.L337L	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	337							binding				0	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			GGGACTCTCTCAGGATCGAGG	0.502		NaN											0	0	0	0.01441	0	58	36				
PCSK6	5046	broad.mit.edu	37	15	101938609	101938609	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:101938609C>T	uc002bwy.2	-	8	1310	c.996G>A	c.(994-996)AAG>AAA	p.K332K	PCSK6_uc010bpd.2_Silent_p.K202K|PCSK6_uc010bpe.2_Silent_p.K332K|PCSK6_uc002bxa.2_Silent_p.K332K|PCSK6_uc002bxb.2_Silent_p.K332K|PCSK6_uc002bxc.1_Silent_p.K332K|PCSK6_uc002bxd.1_Silent_p.K332K|PCSK6_uc002bxe.2_Silent_p.K332K|PCSK6_uc002bxg.1_Silent_p.K332K	NM_002570	NP_002561	P29122	PCSK6_HUMAN	paired basic amino acid cleaving system 4	332	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			pancreas(2)	2	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTACTCACACCTTTTTAATGC	0.557		NaN											0	0	0	0.01441	0	57	147				
SMG1	23049	broad.mit.edu	37	16	18856889	18856889	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr16:18856889G>A	uc002dfm.2	-	39	6444	c.6081C>T	c.(6079-6081)ATC>ATT	p.I2027I	SMG1_uc010bwb.2_Silent_p.I1887I|SMG1_uc010bwa.2_Silent_p.I758I|SMG1_uc002dfo.3_Silent_p.I325I	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2027					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						GAGCCGCTGTGATACTCCTCA	0.433		NaN											0	0	0	0.01441	0	85	54				
TNRC6A	27327	broad.mit.edu	37	16	24803020	24803020	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr16:24803020G>A	uc002dmm.2	+	6	3171	c.3057G>A	c.(3055-3057)GTG>GTA	p.V1019V	TNRC6A_uc010bxs.2_Silent_p.V766V|TNRC6A_uc010vcc.1_Silent_p.V766V|TNRC6A_uc002dmn.2_Silent_p.V766V|TNRC6A_uc002dmo.2_Silent_p.V766V	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1019	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		ACAAAAATGTGAACATGTGGA	0.468		NaN											0	0	0	0.010729	0	11	93				
TGFB1I1	7041	broad.mit.edu	37	16	31485480	31485480	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr16:31485480C>A	uc002ecd.1	+	5	359	c.333C>A	c.(331-333)ATC>ATA	p.I111I	TGFB1I1_uc002ece.1_Silent_p.I94I|TGFB1I1_uc010caq.1_Intron	NM_001042454	NP_001035919	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced	111	Transcription activation (By similarity).|Interaction with PTK2 (By similarity).|Interaction with PTK2B.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding				0						CAGATGAAATCATGTCTCAGT	0.512		NaN											1	0	4.74835e-14	0.010818	5.11782e-14	29	24				
AMFR	267	broad.mit.edu	37	16	56436917	56436917	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr16:56436917C>T	uc002eiy.2	-	7	1159	c.954G>A	c.(952-954)GTG>GTA	p.V318V	AMFR_uc002eix.2_Nonsense_Mutation_p.W16*	NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor	318					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)	2						TGTTTCCAACCACACGTAGAT	0.443		NaN											0	0	0	0.01441	0	69	99				
CDH8	1006	broad.mit.edu	37	16	61747750	61747750	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr16:61747750T>C	uc002eog.1	-	10	1901	c.1649A>G	c.(1648-1650)AAT>AGT	p.N550S		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	550	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTTACCTTCATTTTTCTTGAT	0.308		NaN											0	0	0	0.00308	0	8	18				
ZCCHC14	23174	broad.mit.edu	37	16	87493735	87493735	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr16:87493735G>A	uc002fjz.1	-	2	189	c.162C>T	c.(160-162)ATC>ATT	p.I54I	ZCCHC14_uc002fka.1_RNA	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	54					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TTCTTGGAGTGATCTGAGGGA	0.443		NaN											0	0	0	0.004482	0	8	153				
TP53	7157	broad.mit.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	rs112431538		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:7577085C>T	uc002gim.2	-	8	1047	c.853G>A	c.(853-855)GAG>AAG	p.E285K	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E285K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E153K|TP53_uc010cng.1_Missense_Mutation_p.E153K|TP53_uc002gii.1_Missense_Mutation_p.E153K|TP53_uc010cnh.1_Missense_Mutation_p.E285K|TP53_uc010cni.1_Missense_Mutation_p.E285K|TP53_uc002gij.2_Missense_Mutation_p.E285K	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	285	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> D (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.E285K(95)|p.E285*(16)|p.E285V(13)|p.0?(7)|p.E285Q(4)|p.E285E(3)|p.E285G(3)|p.E285A(2)|p.?(2)|p.R283fs*16(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.E285fs*20(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)		TTCTCTTCCTCTGTGCGCCGG	0.562		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)			0	0	0	0.01441	0	73	2		Valid		
KIAA0100	9703	broad.mit.edu	37	17	26958634	26958634	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:26958634G>A	uc002hbu.2	-	23	4261	c.4162C>T	c.(4162-4164)CAG>TAG	p.Q1388*		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1388						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					ACGGTCACCTGACTTAGGTCA	0.527		NaN											0	0	0	0.00333	0	25	83				
ATAD5	79915	broad.mit.edu	37	17	29161248	29161248	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:29161248G>C	uc002hfs.1	+	2	495	c.149G>C	c.(148-150)AGA>ACA	p.R50T	ATAD5_uc002hft.1_5'UTR	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	50					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GGGAAGACTAGAGACAGGGTT	0.368		NaN											0	0	0	0.009535	0	31	89				
MYO1D	4642	broad.mit.edu	37	17	31203816	31203816	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:31203816G>A	uc002hho.1	-	1	87	c.75C>T	c.(73-75)TTC>TTT	p.F25F	MYO1D_uc002hhp.1_Silent_p.F25F|MYO1D_uc010wcb.1_Silent_p.F25F	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	25	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			GGTTGGCCATGAACTCGGGCA	0.721		NaN											0	0	0	0.004672	0	3	3				
MPP2	4355	broad.mit.edu	37	17	41957217	41957217	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:41957217G>A	uc010wip.1	-	11	1478	c.1421C>T	c.(1420-1422)ACA>ATA	p.T474I	MPP2_uc002ien.1_Missense_Mutation_p.T446I|MPP2_uc010wim.1_Missense_Mutation_p.T418I|MPP2_uc002ieo.1_Missense_Mutation_p.T429I|MPP2_uc010win.1_Missense_Mutation_p.T290I|MPP2_uc010wio.1_Missense_Mutation_p.T418I	NM_005374	NP_005365	Q14168	MPP2_HUMAN	palmitoylated membrane protein 2	453	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity				0		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GTCAATACGTGTGCCATACAG	0.627		NaN									OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004289	0	37	78				
COIL	8161	broad.mit.edu	37	17	55027348	55027348	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:55027348G>A	uc002iuu.2	-	2	1286	c.1255C>T	c.(1255-1257)CGA>TGA	p.R419*		NM_004645	NP_004636	P38432	COIL_HUMAN	coilin	419	3-4.|4 X 2 AA tandem repeats of R-G.|2 X 4 AA repeats of S-L-P-A.					Cajal body|nucleolus	protein C-terminus binding			ovary(1)	1	Breast(9;6.15e-08)					GGATGCCCTCGTCCTCGACCT	0.478		NaN											0	0	0	0.01441	0	54	111				
ABCA6	23460	broad.mit.edu	37	17	67075206	67075206	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:67075206C>G	uc002jhw.1	-	39	4937	c.4762G>C	c.(4762-4764)GAG>CAG	p.E1588Q		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	1588					transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)					TTAGAAAGCTCTAAGAATACC	0.353		NaN											0	0	0	0.010504	0	22	26				
TBC1D16	125058	broad.mit.edu	37	17	77922709	77922709	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:77922709G>T	uc002jxj.2	-	8	1619	c.1503C>A	c.(1501-1503)TTC>TTA	p.F501L	TBC1D16_uc002jxh.2_Missense_Mutation_p.F139L|TBC1D16_uc002jxi.2_Missense_Mutation_p.F126L|TBC1D16_uc002jxk.1_Missense_Mutation_p.F139L	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	501	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CCCCCCGGAAGAACTGGTTGT	0.572		NaN											1	0	4.24508e-63	0.01441	4.96144e-63	102	148				
PPP4R1	9989	broad.mit.edu	37	18	9553378	9553378	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr18:9553378G>A	uc002koe.1	-	16	2351	c.2233C>T	c.(2233-2235)CAG>TAG	p.Q745*	PPP4R1_uc002kof.2_Nonsense_Mutation_p.Q162*|PPP4R1_uc010wzo.1_Nonsense_Mutation_p.Q591*|PPP4R1_uc002kod.1_Nonsense_Mutation_p.Q728*	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	745					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			skin(1)	1						AAAAACTCCTGAAGTTGATAA	0.328		NaN											0	0	0	0.012213	0	30	37				
PSMA8	143471	broad.mit.edu	37	18	23731808	23731808	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr18:23731808G>C	uc002kvq.2	+	3	348	c.234G>C	c.(232-234)TTG>TTC	p.L78F	PSMA8_uc002kvo.2_Intron|PSMA8_uc002kvp.2_Intron|PSMA8_uc002kvr.2_Intron	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	proteasome alpha 8 subunit isoform 1	78					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			skin(1)	1	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			GTGAAGTTTTGACAATTTTTA	0.358		NaN											0	0	0	0.01441	0	77	28				
ELP2	55250	broad.mit.edu	37	18	33744590	33744590	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr18:33744590G>A	uc002kzk.1	+	18	1924	c.1914G>A	c.(1912-1914)TGG>TGA	p.W638*	ELP2_uc010xcg.1_Nonsense_Mutation_p.W703*|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Nonsense_Mutation_p.W612*|ELP2_uc010xch.1_Nonsense_Mutation_p.W633*|ELP2_uc002kzn.1_Nonsense_Mutation_p.W568*|ELP2_uc002kzo.1_Nonsense_Mutation_p.W568*	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN	elongator protein 2	638	WD 11.				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				breast(2)|ovary(1)|skin(1)	4						ATCGAACCTGGTCATTGTGGA	0.398		NaN											0	0	0	0.008361	0	29	32				
POLI	11201	broad.mit.edu	37	18	51804150	51804150	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr18:51804150G>C	uc002lfj.3	+	4	552	c.484G>C	c.(484-486)GAG>CAG	p.E162Q	POLI_uc010xds.1_Missense_Mutation_p.E162Q|POLI_uc002lfk.3_Missense_Mutation_p.E59Q|POLI_uc002lfl.1_Missense_Mutation_p.E94Q	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	DNA polymerase iota	162	UmuC.				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			ovary(2)|kidney(1)	3				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AGAAATGGTTGAGAAGAGACT	0.373		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.00245	0	14	17				
ZNF532	55205	broad.mit.edu	37	18	56601746	56601746	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr18:56601746C>A	uc002lho.2	+	5	2975	c.2428C>A	c.(2428-2430)CCC>ACC	p.P810T	ZNF532_uc002lhp.2_Missense_Mutation_p.P808T|ZNF532_uc010xeg.1_Missense_Mutation_p.P808T|ZNF532_uc002lhr.2_Missense_Mutation_p.P808T|ZNF532_uc002lhs.2_Missense_Mutation_p.P808T	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	810					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						GCACAAATCTCCCTACACCTG	0.522		NaN											1	0	1.4709e-25	0.01441	1.64706e-25	59	91				
ZNF516	9658	broad.mit.edu	37	18	74154543	74154543	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr18:74154543G>T	uc010dqx.1	-	2	703	c.468C>A	c.(466-468)AGC>AGA	p.S156R	ZNF516_uc002lme.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCCCCTTCTTGCTGCTCCGCA	0.701		NaN											1	0	0.00024832	0.009096	0.000255142	4	4				
NFATC1	4772	broad.mit.edu	37	18	77171093	77171093	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr18:77171093G>T	uc010xfg.1	+	2	1271	c.818G>T	c.(817-819)CGG>CTG	p.R273L	NFATC1_uc002lnc.1_Missense_Mutation_p.R273L|NFATC1_uc010xff.1_Missense_Mutation_p.R273L|NFATC1_uc002lnd.2_Missense_Mutation_p.R273L|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.R273L|NFATC1_uc010xfi.1_Missense_Mutation_p.R260L|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.R260L|NFATC1_uc002lng.2_Missense_Mutation_p.R260L|NFATC1_uc010xfk.1_Missense_Mutation_p.R260L	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	273	3 X SP repeats.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CTCAACGGCCGGCAGCCGCCC	0.706		NaN											1	0	2.27111e-07	0.013537	2.37926e-07	13	40				
SEMA6B	10501	broad.mit.edu	37	19	4550226	4550226	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:4550226C>T	uc010duc.1	-	11	1218	c.1180G>A	c.(1180-1182)GAC>AAC	p.D394N	SEMA6B_uc010dud.2_Missense_Mutation_p.D394N|SEMA6B_uc010xih.1_Missense_Mutation_p.D394N	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	394	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGAGGATGTCATCCGGCAAG	0.642		NaN											0	0	0	0.007835	0	37	31				
ZNF560	147741	broad.mit.edu	37	19	9578205	9578205	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:9578205G>A	uc002mlp.1	-	10	1628	c.1418C>T	c.(1417-1419)TCA>TTA	p.S473L	ZNF560_uc010dwr.1_Missense_Mutation_p.S367L	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						AATAACACCTGAGGATGTACC	0.393		NaN											0	0	0	0.013114	0	45	181				
ICAM5	7087	broad.mit.edu	37	19	10405105	10405105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:10405105C>A	uc002mnu.3	+	9	2084	c.2019C>A	c.(2017-2019)TGC>TGA	p.C673*	ICAM5_uc002mnv.3_Nonsense_Mutation_p.C548*	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	673	Extracellular (Potential).|Ig-like C2-type 8.				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			AATCTACCTGCCCAAGTCACC	0.692		NaN											1	0	2.14255e-21	0.01441	2.37075e-21	61	34				
SMARCA4	6597	broad.mit.edu	37	19	11152120	11152120	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:11152120G>C	uc002mqf.3	+	30	4592	c.4308G>C	c.(4306-4308)GAG>GAC	p.E1436D	SMARCA4_uc010dxp.2_Missense_Mutation_p.E1436D|SMARCA4_uc010dxo.2_Missense_Mutation_p.E1468D|SMARCA4_uc010dxq.2_Missense_Mutation_p.E1403D|SMARCA4_uc010dxr.2_Missense_Mutation_p.E1403D|SMARCA4_uc002mqj.3_Missense_Mutation_p.E1406D|SMARCA4_uc010dxs.2_Missense_Mutation_p.E1406D|SMARCA4_uc002mqh.3_Missense_Mutation_p.E526D	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1436					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity			lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGGACGACGAGAGCAAGAAGC	0.617		NaN	F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				0	0	0	0.014323	0	22	11		Valid		
ZNF653	115950	broad.mit.edu	37	19	11597944	11597944	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:11597944C>T	uc002mrz.1	-	5	1254	c.1201G>A	c.(1201-1203)GAG>AAG	p.E401K		NM_138783	NP_620138	Q96CK0	ZN653_HUMAN	zinc finger protein 653	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCCTTCTCCTCCTTCTTTAGC	0.647		NaN											0	0	0	0.01441	0	51	84				
ZNF878	729747	broad.mit.edu	37	19	12154731	12154731	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:12154731G>A	uc002mta.1	-	5	1626	c.1626C>T	c.(1624-1626)CTC>CTT	p.L542L		NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	zinc finger protein 878	495	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						TTTCATGGTAGAGAAAAGAGT	0.393		NaN											0	0	0	0.010504	0	21	39				
JUNB	3726	broad.mit.edu	37	19	12902839	12902839	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:12902839C>T	uc002mvc.2	+	1	530	c.254C>T	c.(253-255)TCG>TTG	p.S85L	JUNB_uc002mvb.2_RNA	NM_002229	NP_002220	P17275	JUNB_HUMAN	jun B proto-oncogene	85						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			lung(2)|central_nervous_system(1)	3						CTCGCCTCTTCGGAGCTGGAA	0.687		NaN											0	0	0	0.000602	0	4	21				
SYCE2	256126	broad.mit.edu	37	19	13015434	13015434	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:13015434A>C	uc002mvr.2	-	3	193	c.178T>G	c.(178-180)TTC>GTC	p.F60V		NM_001105578	NP_001099048	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	60					cell division	central element					0						AGAGAGGAGAAGTAGAGTCCC	0.537		NaN											0	0	0	0.00308	0	8	196				
TMEM38A	79041	broad.mit.edu	37	19	16790904	16790904	+	Silent	SNP	C	C	T	rs144587502		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:16790904C>T	uc002nes.2	+	2	325	c.234C>T	c.(232-234)ATC>ATT	p.I78I		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	78	Cytoplasmic (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|ovary(1)	3						AGCCACTGATCGATTACTTCA	0.602		NaN											0	0	0	0.013114	0	45	74				
PLVAP	83483	broad.mit.edu	37	19	17487748	17487748	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:17487748C>T	uc002ngk.1	-	1	400	c.350G>A	c.(349-351)CGC>CAC	p.R117H		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	117	Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0						CTGGCACTGGCGGAAGCTGGC	0.428		NaN											0	0	0	0.010504	0	19	37				
SLC27A1	376497	broad.mit.edu	37	19	17611152	17611152	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:17611152C>A	uc002ngu.1	+	8	1322	c.1272C>A	c.(1270-1272)GTC>GTA	p.V424V	SLC27A1_uc010xpp.1_Silent_p.V245V|SLC27A1_uc002ngv.1_Silent_p.V26V	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	solute carrier family 27, member 1	424	Sufficient for oligomerization (By similarity).|Cytoplasmic (Potential).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding				0						TGGTGAAGGTCAATGAGGACA	0.662		NaN											1	0	4.22769e-11	0.00632	4.4792e-11	29	127				
SLC27A1	376497	broad.mit.edu	37	19	17611371	17611371	+	Silent	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:17611371C>G	uc002ngu.1	+	9	1451	c.1401C>G	c.(1399-1401)GTC>GTG	p.V467V	SLC27A1_uc010xpp.1_Silent_p.V288V|SLC27A1_uc002ngv.1_Silent_p.V69V	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	solute carrier family 27, member 1	467	Sufficient for oligomerization (By similarity).|Cytoplasmic (Potential).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding				0						ATGGCTATGTCAGCGAGAGCG	0.642		NaN											0	0	0	0.003163	0	16	37				
TSHZ3	57616	broad.mit.edu	37	19	31768032	31768032	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:31768032C>T	uc002nsy.3	-	2	2732	c.2667G>A	c.(2665-2667)CAG>CAA	p.Q889Q		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	889					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					CCTTCCTCTTCTGGGCGGGCG	0.612		NaN											0	0	0	0.01441	0	51	50				
GPI	2821	broad.mit.edu	37	19	34884660	34884660	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:34884660C>T	uc002nvg.1	+	11	996	c.893C>T	c.(892-894)TCG>TTG	p.S298L	GPI_uc002nvf.2_Missense_Mutation_p.S337L|GPI_uc010xrv.1_Missense_Mutation_p.S309L|GPI_uc010xrw.1_Missense_Mutation_p.S270L|GPI_uc010edl.1_Missense_Mutation_p.S298L|GPI_uc002nvi.1_5'UTR	NM_000175	NP_000166	P06744	G6PI_HUMAN	glucose phosphate isomerase	298					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			ovary(1)|kidney(1)	2	Esophageal squamous(110;0.162)					CAGCTGCTCTCGGGGGCTCAC	0.602		NaN											0	0	0	0.01441	0	74	92				
C19orf55	148137	broad.mit.edu	37	19	36256029	36256029	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:36256029G>A	uc002obq.1	+	7	794	c.721G>A	c.(721-723)GAG>AAG	p.E241K		NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	hypothetical protein LOC148137	241	Ser-rich.									ovary(1)	1	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCCTTCTCGGAGACCTTCAT	0.478		NaN											0	0	0	0.004007	0	16	222				
RYR1	6261	broad.mit.edu	37	19	38945908	38945908	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:38945908C>T	uc002oit.2	+	14	1604	c.1474C>T	c.(1474-1476)CGC>TGC	p.R492C	RYR1_uc002oiu.2_Missense_Mutation_p.R492C	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	492	Cytoplasmic.				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)	TTGCATAGACCGCCTAAATGT	0.507		NaN											0	0	0	0.01441	0	65	105				
PRX	57716	broad.mit.edu	37	19	40901226	40901226	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:40901226C>T	uc002onr.2	-	7	3302	c.3033G>A	c.(3031-3033)GGG>GGA	p.G1011G	PRX_uc002onq.2_Silent_p.G872G|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	1011					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGAGGTCGGCCCCTGCCACCT	0.647		NaN											0	0	0	0.01441	0	72	80				
RTN2	6253	broad.mit.edu	37	19	45996515	45996515	+	Silent	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:45996515G>T	uc002pcb.2	-	5	1164	c.936C>A	c.(934-936)CCC>CCA	p.P312P	RTN2_uc002pcc.2_Intron|RTN2_uc002pcd.2_Intron	NM_005619	NP_005610	O75298	RTN2_HUMAN	reticulon 2 isoform A	312						integral to endoplasmic reticulum membrane	signal transducer activity			ovary(3)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		CAGGAGTAGGGGGGGTGGGGC	0.562		NaN											1	0	5.61819e-17	0.005443	6.12595e-17	28	234				
GRIN2D	2906	broad.mit.edu	37	19	48919324	48919324	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:48919324C>T	uc002pjc.3	+	7	1735	c.1647C>T	c.(1645-1647)ATC>ATT	p.I549I		NM_000836	NP_000827	O15399	NMDE4_HUMAN	N-methyl-D-aspartate receptor subunit 2D	549	Extracellular (Potential).					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			ovary(3)|breast(3)	6		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GCTCCGAGATCGTGGACTTCT	0.662		NaN											0	0	0	0.004289	0	36	118				
PPP1R15A	23645	broad.mit.edu	37	19	49377076	49377076	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:49377076G>A	uc002pky.3	+	2	855	c.586G>A	c.(586-588)GAA>AAA	p.E196K		NM_014330	NP_055145	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	196	Glu-rich.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			lung(1)	1		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GGAGGACGATGAAGAAGCTGT	0.532		NaN											0	0	0	0.004482	0	7	129				
NTF4	4909	broad.mit.edu	37	19	49564969	49564969	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:49564969C>T	uc002pmf.3	-	2	427	c.286G>A	c.(286-288)GTG>ATG	p.V96M	CGB7_uc010yah.1_Intron	NM_006179	NP_006170	P34130	NTF4_HUMAN	neurotrophin 5 preproprotein	96					adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity				0		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GCATCGCACACAGCCAGCTCA	0.701		NaN											0	0	0	0.005524	0	38	34				
PPFIA3	8541	broad.mit.edu	37	19	49643309	49643309	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:49643309C>T	uc002pmr.2	+	18	2664	c.2332C>T	c.(2332-2334)CGA>TGA	p.R778*	PPFIA3_uc010yai.1_RNA|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Nonsense_Mutation_p.R646*|PPFIA3_uc002pmt.2_5'Flank	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	778						cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		AGAGAAGGGACGAATGGGACC	0.428		NaN											0	0	0	0.01441	0	47	78				
POLD1	5424	broad.mit.edu	37	19	50905324	50905324	+	Missense_Mutation	SNP	G	G	T	rs140707092		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:50905324G>T	uc002psb.3	+	5	588	c.532G>T	c.(532-534)GGG>TGG	p.G178W	POLD1_uc002psc.3_Missense_Mutation_p.G178W|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.G178W	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	178					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGACAGTCGCGGGGGGAGGGA	0.672		NaN						DNA_polymerases_(catalytic_subunits)					1	0	8.72198e-27	0.01441	9.79586e-27	49	53				
POLD1	5424	broad.mit.edu	37	19	50918133	50918133	+	Missense_Mutation	SNP	G	G	A	rs142017093		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:50918133G>A	uc002psb.3	+	20	2506	c.2450G>A	c.(2449-2451)CGG>CAG	p.R817Q	POLD1_uc002psc.3_Missense_Mutation_p.R817Q|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.R843Q	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	817					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TTCTCCTCCCGGCCCGACGCC	0.667		NaN						DNA_polymerases_(catalytic_subunits)			OREG0025635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.013114	0	46	49				
KLK15	55554	broad.mit.edu	37	19	51330209	51330209	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:51330209C>T	uc002ptl.2	-	3	437	c.406G>A	c.(406-408)GAG>AAG	p.E136K	KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Missense_Mutation_p.E136K|KLK15_uc002pto.2_Missense_Mutation_p.E135K|KLK15_uc010ych.1_Intron|KLK15_uc010yci.1_Missense_Mutation_p.E135K|KLK15_uc010eod.2_RNA	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15 isoform 4	136	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)|breast(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ACACAGGCCTCCCCCGGGTGG	0.692		NaN											0	0	0	0.003163	0	16	97				
KLK15	55554	broad.mit.edu	37	19	51330397	51330397	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:51330397C>T	uc002ptl.2	-	3	249	c.218G>A	c.(217-219)GGA>GAA	p.G73E	KLK15_uc002ptm.2_Missense_Mutation_p.G73E|KLK15_uc002ptn.2_Missense_Mutation_p.G73E|KLK15_uc002pto.2_Missense_Mutation_p.G72E|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_Missense_Mutation_p.G72E|KLK15_uc010eod.2_RNA	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15 isoform 4	73	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)|breast(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GTTGTGCTCTCCCAGGCGCAC	0.622		NaN											0	0	0	0.008871	0	20	120				
ZNF614	80110	broad.mit.edu	37	19	52519431	52519431	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:52519431C>T	uc002pyj.2	-	5	1822	c.1420G>A	c.(1420-1422)GAG>AAG	p.E474K	ZNF614_uc002pyi.3_Intron|ZNF614_uc010epj.2_Missense_Mutation_p.E177K	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	zinc finger protein 614	474	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGACATCTCTCATGTTGTATG	0.408		NaN											0	0	0	0.005443	0	27	291				
ZNF761	388561	broad.mit.edu	37	19	53958557	53958557	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:53958557G>A	uc010eqp.2	+	7	1254	c.796G>A	c.(796-798)GGT>AGT	p.G266S	ZNF761_uc010ydy.1_Missense_Mutation_p.G212S|ZNF761_uc002qbt.1_Missense_Mutation_p.G212S	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		ATGTCACACTGGTGAGAATCC	0.413		NaN											0	0	0	0.01441	0	146	234				
NLRP5	126206	broad.mit.edu	37	19	56538965	56538965	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:56538965C>T	uc002qmj.2	+	7	1366	c.1366C>T	c.(1366-1368)CGT>TGT	p.R456C	NLRP5_uc002qmi.2_Missense_Mutation_p.R437C	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	456	NACHT.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACAAGGGTTGCGTGCGATCAT	0.592		NaN											0	0	0	0.00333	0	25	36				
ROCK2	9475	broad.mit.edu	37	2	11338883	11338883	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:11338883C>T	uc002rbd.1	-	24	3377	c.2928G>A	c.(2926-2928)AGG>AGA	p.R976R		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	976	Potential.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TAGTTAGTGTCCTATTAGTTT	0.279		NaN											0	0	0	0.00245	0	11	33				
RHOB	388	broad.mit.edu	37	2	20647365	20647365	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:20647365G>A	uc002rdv.2	+	1	531	c.139G>A	c.(139-141)GAG>AAG	p.E47K		NM_004040	NP_004031	P62745	RHOB_HUMAN	ras homolog gene family, member B precursor	47					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			ovary(1)|lung(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		GGCCGACATTGAGGTGGACGG	0.647		NaN											0	0	0	0.005443	0	28	101		Valid		
ZNF512	84450	broad.mit.edu	37	2	27825413	27825413	+	Silent	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:27825413C>G	uc002rla.2	+	8	840	c.753C>G	c.(751-753)CTC>CTG	p.L251L	ZNF512_uc010ylv.1_Silent_p.L172L|ZNF512_uc010ylw.1_Silent_p.L222L|ZNF512_uc002rlb.2_Silent_p.L172L|ZNF512_uc010ylx.1_Silent_p.L172L|ZNF512_uc002rlc.2_Silent_p.L172L|ZNF512_uc010yly.1_RNA|ZNF512_uc010ylz.1_Silent_p.L144L	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	zinc finger protein 512	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					TGGGAAAGCTCAGGTGCATGC	0.463		NaN											0	0	0	0.004482	0	7	54				
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48874166	48874166	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:48874166A>G	uc010yol.1	+	5	2981	c.2934A>G	c.(2932-2934)ATA>ATG	p.I978M	STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.I1025M|GTF2A1L_uc002rws.1_Missense_Mutation_p.I321M|GTF2A1L_uc010yom.1_Missense_Mutation_p.I287M|GTF2A1L_uc002rwt.2_Missense_Mutation_p.I321M	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	978					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCAGCAACATACCTGTATCAG	0.393		NaN											0	0	0	0.00278	0	23	53				
NRXN1	9378	broad.mit.edu	37	2	50733754	50733754	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:50733754G>T	uc010fbq.2	-	13	3973	c.2496C>A	c.(2494-2496)AGC>AGA	p.S832R	NRXN1_uc002rxb.3_Missense_Mutation_p.S464R|NRXN1_uc002rxe.3_Missense_Mutation_p.S792R|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)			CGGGACCTTTGCCTGTAGAAT	0.358		NaN											1	0	2.0095e-06	0.001984	2.08764e-06	7	66				
EFEMP1	2202	broad.mit.edu	37	2	56144828	56144828	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:56144828G>C	uc002rzh.2	-	4	819	c.489C>G	c.(487-489)TAC>TAG	p.Y163*	EFEMP1_uc002rzi.2_Nonsense_Mutation_p.Y163*|EFEMP1_uc002rzj.2_Nonsense_Mutation_p.Y163*|EFEMP1_uc010ypc.1_Nonsense_Mutation_p.Y105*	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	EGF-containing fibulin-like extracellular matrix	163					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			ovary(4)|pancreas(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CACTTTGCTCGTAGCCTGCTG	0.507		NaN											0	0	0	0.01441	0	58	225				
FAM161A	84140	broad.mit.edu	37	2	62067209	62067209	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:62067209C>T	uc010ypo.1	-	3	1032	c.930G>A	c.(928-930)CTG>CTA	p.L310L	FAM161A_uc002sbm.3_Silent_p.L310L|FAM161A_uc002sbn.3_Silent_p.L120L|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_Silent_p.L201L	NM_032180	NP_115556	Q3B820	F161A_HUMAN	hypothetical protein LOC84140	310	Potential.				response to stimulus|visual perception	centrosome				large_intestine(2)|ovary(1)	3						TTTTCTCCTTCAGAGACCTTC	0.443		NaN											0	0	0	0.01441	0	62	268				
STAMBP	10617	broad.mit.edu	37	2	74074811	74074811	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:74074811G>T	uc002sjs.2	+	5	723	c.673G>T	c.(673-675)GTA>TTA	p.V225L	STAMBP_uc002sjt.2_Missense_Mutation_p.V225L|STAMBP_uc002sju.2_Missense_Mutation_p.V225L|STAMBP_uc002sjv.2_Missense_Mutation_p.V225L	NM_201647	NP_964010	O95630	STABP_HUMAN	STAM binding protein	225					JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			ovary(1)|lung(1)|breast(1)|pancreas(1)	4						TCACACAACTGTAAGGCCAGC	0.517		NaN											1	0	3.5997e-14	0.014323	3.891e-14	23	153				
LRRTM1	347730	broad.mit.edu	37	2	80529551	80529551	+	Missense_Mutation	SNP	A	A	C	rs148119501	byFrequency	TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:80529551A>C	uc002sok.1	-	2	1664	c.1394T>G	c.(1393-1395)GTC>GGC	p.V465G	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	465	Cytoplasmic (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						GCGCTGCGTGACAAAGCACTG	0.532		NaN								HNSCC(69;0.2)			0	0	0	0.014323	0	20	126				
C2orf29	55571	broad.mit.edu	37	2	101869621	101869621	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:101869621G>A	uc002taw.3	+	1	277	c.195G>A	c.(193-195)CCG>CCA	p.P65P		NM_017546	NP_060016	Q9UKZ1	CB029_HUMAN	hypothetical protein LOC55571	65					cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GCTTGACCCCGAAGGAGCTCT	0.527		NaN											0	0	0	0.00308	0	7	25				
IL18RAP	8807	broad.mit.edu	37	2	103063657	103063657	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:103063657G>C	uc002tbx.2	+	10	1684	c.1200G>C	c.(1198-1200)CAG>CAC	p.Q400H	IL18RAP_uc010fiz.2_Missense_Mutation_p.Q258H	NM_003853	NP_003844	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	400	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			skin(3)|ovary(2)	5						GCAAGGATCAGACGCTTGGGG	0.557		NaN											0	0	0	0.01441	0	225	180				
CNTNAP5	129684	broad.mit.edu	37	2	125192129	125192129	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:125192129A>T	uc002tno.2	+	5	962	c.598A>T	c.(598-600)ACT>TCT	p.T200S	CNTNAP5_uc010flu.2_Missense_Mutation_p.T200S	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	200	Laminin G-like 1.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		GTTGATGAGTACTCTCAAAGA	0.468		NaN											0	0	0	0.014323	0	22	77				
ACVR2A	92	broad.mit.edu	37	2	148676128	148676128	+	Missense_Mutation	SNP	T	T	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:148676128T>A	uc002twg.2	+	8	1198	c.929T>A	c.(928-930)CTA>CAA	p.L310Q	ACVR2A_uc010zbn.1_Missense_Mutation_p.L202Q|ACVR2A_uc002twh.2_Missense_Mutation_p.L310Q	NM_001616	NP_001607	P27037	AVR2A_HUMAN	activin A receptor, type IIA precursor	310	Cytoplasmic (Potential).|Protein kinase.				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0969)		ATACCTGGCCTAAAAGATGGC	0.378		NaN											0	0	0	0.001855	0	5	43				
NEB	4703	broad.mit.edu	37	2	152468823	152468823	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:152468823C>G	uc010fnx.2	-	74	11144	c.10953G>C	c.(10951-10953)AAG>AAC	p.K3651N		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3651	Nebulin 100.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCCAGCTCTCTTCACTTTCT	0.458		NaN											0	0	0	0.00623	0	37	21				
NR4A2	4929	broad.mit.edu	37	2	157182439	157182439	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:157182439G>A	uc002tyz.3	-	8	2036	c.1614C>T	c.(1612-1614)CAC>CAT	p.H538H	NR4A2_uc002tyx.3_Silent_p.H475H|NR4A2_uc010zcf.1_Silent_p.H538H	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	538					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						TGAAAGTCACGTGGTCTTTGA	0.463		NaN											0	0	0	0.00632	0	28	60				
ACVR1C	130399	broad.mit.edu	37	2	158406900	158406900	+	Silent	SNP	T	T	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:158406900T>C	uc002tzk.3	-	4	792	c.549A>G	c.(547-549)CTA>CTG	p.L183L	ACVR1C_uc002tzl.3_Silent_p.L103L|ACVR1C_uc010fof.2_Intron|ACVR1C_uc010foe.2_Silent_p.L133L	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC isoform 1	183	Cytoplasmic (Potential).|GS.				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						CCAACAGAGGTAGACCTAACC	0.368		NaN											0	0	0	0.01441	0	61	32				
TANK	10010	broad.mit.edu	37	2	162088031	162088031	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:162088031C>A	uc002ubr.1	+	7	1228	c.1070C>A	c.(1069-1071)TCC>TAC	p.S357Y	TANK_uc002ubs.2_Missense_Mutation_p.S357Y	NM_004180	NP_004171	Q92844	TANK_HUMAN	TRAF interacting protein TANK isoform a	357						cytosol	metal ion binding|protein binding			ovary(1)	1						TCACTCGATTCCCCGGGAAAA	0.428		NaN											1	0	7.22619e-39	0.01441	8.29016e-39	55	65				
KCNH7	90134	broad.mit.edu	37	2	163256815	163256815	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:163256815G>T	uc002uch.1	-	10	2503	c.2291C>A	c.(2290-2292)ACC>AAC	p.T764N		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	764	Cytoplasmic (Potential).|cNMP.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	AGGTGCATGGGTGGTTTTGAA	0.458		NaN											1	0	5.32379e-58	0.01441	6.18353e-58	136	110				
SCN1A	6323	broad.mit.edu	37	2	166850696	166850696	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:166850696C>T	uc010zcz.1	-	25	4797	c.4779G>A	c.(4777-4779)TGG>TGA	p.W1593*		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1604	IV.|Helical; Name=S3 of repeat IV; (By similarity).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CAAAAATATTCCATCCAATGG	0.323		NaN											0	0	0	0.001855	0	13	34				
LRP2	4036	broad.mit.edu	37	2	170063662	170063662	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:170063662C>G	uc002ues.2	-	39	6781	c.6568G>C	c.(6568-6570)GAC>CAC	p.D2190H		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2190	LDL-receptor class B 21.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTAGGCATGTCCACTGTGACT	0.428		NaN											0	0	0	0.01441	0	106	95				
MYO3B	140469	broad.mit.edu	37	2	171259362	171259362	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:171259362G>T	uc002ufy.2	+	19	2277	c.2134G>T	c.(2134-2136)GCA>TCA	p.A712S	MYO3B_uc002ufv.2_Missense_Mutation_p.A699S|MYO3B_uc010fqb.1_Missense_Mutation_p.A699S|MYO3B_uc002ufz.2_Missense_Mutation_p.A712S|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	712	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						ATGCAGTAGTGCAGGAGGTGG	0.428		NaN											1	0	4.54149e-19	0.014323	4.96642e-19	21	107				
FKBP7	51661	broad.mit.edu	37	2	179343041	179343041	+	Silent	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:179343041G>T	uc002umk.2	-	1	315	c.186C>A	c.(184-186)GGC>GGA	p.G62G	FKBP7_uc002umm.2_Silent_p.G62G|FKBP7_uc002uml.2_RNA|FKBP7_uc010zff.1_Silent_p.G58G|PLEKHA3_uc002umn.2_5'Flank	NM_181342	NP_851939	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7 isoform a precursor	62	PPIase FKBP-type.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TAGCCAGGTAGCCGTCATAAT	0.498		NaN											1	0	1.99505e-19	0.012213	2.18812e-19	33	108				
TTN	7273	broad.mit.edu	37	2	179617850	179617850	+	Splice_Site	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:179617850C>A	uc010zfg.1	-	45	10584	c.10360_splice	c.e45+1	p.A3454_splice	TTN_uc010zfh.1_Splice_Site_p.E3600_splice|TTN_uc010zfi.1_Splice_Site_p.E3533_splice|TTN_uc010zfj.1_Splice_Site_p.E3408_splice|TTN_uc002umz.1_Splice_Site_p.A115_splice|TTN_uc002unb.2_Splice_Site_p.E3454_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A								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)			TATAACAATACCTTTCATTTC	0.294		NaN											1	0	1.23904e-05	0.000602	1.28011e-05	5	12				
BMPR2	659	broad.mit.edu	37	2	203420682	203420682	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:203420682C>T	uc002uzf.3	+	12	3442	c.2294C>T	c.(2293-2295)TCA>TTA	p.S765L	BMPR2_uc010ftr.2_Intron	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	765	Cytoplasmic (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						ACCAAAAATTCAACAAAAGAG	0.428		NaN											0	0	0	0.00278	0	23	80				
ZDBF2	57683	broad.mit.edu	37	2	207172029	207172029	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:207172029C>T	uc002vbp.2	+	5	3027	c.2777C>T	c.(2776-2778)TCA>TTA	p.S926L		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	926							nucleic acid binding|zinc ion binding			ovary(3)	3						ATTTTTCATTCAGTGACTGGA	0.318		NaN											0	0	0	0.00499	0	18	40				
ERBB4	2066	broad.mit.edu	37	2	212285209	212285209	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:212285209G>A	uc002veg.1	-	25	3190	c.3092C>T	c.(3091-3093)CCA>CTA	p.P1031L	ERBB4_uc002veh.1_Missense_Mutation_p.P1031L|ERBB4_uc010zji.1_Missense_Mutation_p.P1021L|ERBB4_uc010zjj.1_Missense_Mutation_p.P1021L	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1031	Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GATGGGAGGTGGGATGTTGAA	0.373		NaN								TSP Lung(8;0.080)			0	0	0	0.009096	0	4	70				
ATG9A	79065	broad.mit.edu	37	2	220089301	220089301	+	Silent	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:220089301G>C	uc002vke.1	-	8	978	c.792C>G	c.(790-792)CTC>CTG	p.L264L	ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Silent_p.L264L	NM_001077198	NP_001070666	Q7Z3C6	ATG9A_HUMAN	APG9 autophagy 9-like 1	264	Cytoplasmic (By similarity).				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCATTCATTGAGAAACAGAG	0.582		NaN											0	0	0	0.00499	0	15	42				
DNPEP	23549	broad.mit.edu	37	2	220251131	220251131	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:220251131C>T	uc010zlg.1	-	5	442	c.360G>A	c.(358-360)GTG>GTA	p.V120V	DNPEP_uc010zlf.1_5'Flank|DNPEP_uc002vle.2_Silent_p.V112V|DNPEP_uc002vlf.1_Silent_p.V98V|DNPEP_uc002vlh.2_Silent_p.V59V|DNPEP_uc002vli.1_Silent_p.V59V|DNPEP_uc002vlj.2_Silent_p.V102V|uc002vlk.1_5'Flank	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	102					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding				0		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	ACCGACGTTTCACCTGAGTGT	0.517		NaN											0	0	0	0.00333	0	23	80				
DNER	92737	broad.mit.edu	37	2	230377518	230377518	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:230377518G>A	uc002vpv.2	-	6	1275	c.1128C>T	c.(1126-1128)TTC>TTT	p.F376F	DNER_uc010zly.1_Silent_p.F104F	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	376	Extracellular (Potential).|EGF-like 4.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			lung(5)|ovary(2)|skin(1)	8		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		AAACACAGGTGAAATTGCTCC	0.398		NaN											0	0	0	0.01441	0	89	72				
SNED1	25992	broad.mit.edu	37	2	242027796	242027796	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:242027796C>G	uc002wah.1	+	31	4222	c.4222C>G	c.(4222-4224)CAG>GAG	p.Q1408E	SNED1_uc002waj.1_Missense_Mutation_p.Q434E	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	6720455I24Rik homolog precursor	1408					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		AAGTAAGAGTCAGACACTGGA	0.512		NaN											0	0	0	0.001168	0	5	92				
ISM1	140862	broad.mit.edu	37	20	13251266	13251266	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr20:13251266G>T	uc010gce.1	+	2	260	c.254G>T	c.(253-255)CGA>CTA	p.R85L	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog precursor	85						extracellular region					0						CCCAGACCGCGATTCCGACAA	0.507		NaN											1	0	0.004672	0.004672	0.00474817	3	50				
KIF16B	55614	broad.mit.edu	37	20	16359942	16359942	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr20:16359942A>C	uc002wpg.1	-	19	2863	c.2705T>G	c.(2704-2706)CTG>CGG	p.L902R	KIF16B_uc002wpe.1_Missense_Mutation_p.L284R|KIF16B_uc002wpf.1_Missense_Mutation_p.L284R|KIF16B_uc010gch.1_Missense_Mutation_p.L902R|KIF16B_uc010gci.1_Missense_Mutation_p.L902R|KIF16B_uc010gcj.1_Missense_Mutation_p.L913R	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	902	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						TTTATATTGCAGCCTGTACTC	0.433		NaN											0	0	0	0.01441	0	83	70				
CSRP2BP	57325	broad.mit.edu	37	20	18142726	18142726	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr20:18142726G>C	uc002wqj.2	+	6	1567	c.945G>C	c.(943-945)TTG>TTC	p.L315F	CSRP2BP_uc002wqk.2_Missense_Mutation_p.L187F|CSRP2BP_uc010zru.1_Missense_Mutation_p.L186F	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	315					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			lung(3)|ovary(2)|skin(1)	6						TTTCCTCCTTGAGCTCCTCTG	0.527		NaN											0	0	0	0.01441	0	101	230				
ITCH	83737	broad.mit.edu	37	20	33067581	33067581	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr20:33067581G>A	uc010geu.1	+	19	2120	c.1928G>A	c.(1927-1929)AGA>AAA	p.R643K	ITCH_uc002xak.2_Missense_Mutation_p.R602K|ITCH_uc010zuj.1_Missense_Mutation_p.R492K	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	itchy homolog E3 ubiquitin protein ligase	643	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			breast(4)|lung(1)|central_nervous_system(1)	6						TTTATTGGCAGATTTATTGCC	0.368		NaN											0	0	0	0.005524	0	38	30				
CEBPB	1051	broad.mit.edu	37	20	48808576	48808576	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr20:48808576G>T	uc002xvi.1	+	1	1201	c.1006G>T	c.(1006-1008)GAG>TAG	p.E336*	CEBPB_uc002xvh.2_RNA	NM_005194	NP_005185	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein beta	336					acute-phase response|immune response		sequence-specific enhancer binding RNA polymerase II transcription factor activity				0			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			GCAGCTGCCCGAGCCCCTGCT	0.488		NaN											1	0	3.59834e-05	0.001168	3.70738e-05	6	8				
ZNF217	7764	broad.mit.edu	37	20	52199284	52199284	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr20:52199284G>C	uc002xwq.3	-	1	353	c.82C>G	c.(82-84)CTT>GTT	p.L28V	ZNF217_uc010gij.1_Missense_Mutation_p.L20V	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	28					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GGACTGCCAAGAGAGCTGCCA	0.458		NaN											0	0	0	0.00874	0	41	55				
C20orf106	200232	broad.mit.edu	37	20	55101119	55101119	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr20:55101119C>G	uc002xxx.2	+	2	589	c.509C>G	c.(508-510)TCT>TGT	p.S170C	GCNT7_uc010zzg.1_5'Flank|C20orf107_uc010zzh.1_Intron	NM_001012971	NP_001012989	Q5JX71	CT106_HUMAN	hypothetical protein LOC200232 precursor	170	Cytoplasmic (Potential).					integral to membrane					0			Colorectal(105;0.202)			GAAGAAAGCTCTAGCTGAATG	0.408		NaN											0	0	0	0.004656	0	25	50				
TPTE	7179	broad.mit.edu	37	21	10942758	10942758	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr21:10942758C>T	uc002yip.1	-	13	1051	c.683G>A	c.(682-684)AGG>AAG	p.R228K	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.R210K|TPTE_uc002yir.1_Missense_Mutation_p.R190K|TPTE_uc010gkv.1_Missense_Mutation_p.R90K	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	228	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.I228V(1)		ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTGTATCGCCTTTTGTTTTC	0.328		NaN											0	0	0	0.01441	0	90	510				
UBASH3A	53347	broad.mit.edu	37	21	43867194	43867194	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr21:43867194G>T	uc002zbe.2	+	15	1912	c.1876G>T	c.(1876-1878)GAA>TAA	p.E626*	UBASH3A_uc002zbf.2_Nonsense_Mutation_p.E588*|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Silent_p.V515V	NM_018961	NP_061834	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing,	626	Phosphatase-like.					cytosol|nucleus				ovary(3)	3						GTGCTTCTGTGAAGAAAATAA	0.463		NaN											1	0	1.02487e-32	0.01441	1.16152e-32	69	167				
PRAME	23532	broad.mit.edu	37	22	22892514	22892514	+	Missense_Mutation	SNP	A	A	G	rs140739353	byFrequency	TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr22:22892514A>G	uc002zwf.2	-	4	743	c.587T>C	c.(586-588)ATT>ACT	p.I196T	LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.I180T|PRAME_uc010gtr.2_Missense_Mutation_p.I196T|PRAME_uc002zwg.2_Missense_Mutation_p.I196T|PRAME_uc002zwh.2_Missense_Mutation_p.I196T|PRAME_uc002zwi.2_Missense_Mutation_p.I196T|PRAME_uc002zwj.2_Missense_Mutation_p.I196T|PRAME_uc002zwk.2_Missense_Mutation_p.I196T	NM_206956	NP_996839	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	196					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			central_nervous_system(2)	2	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CACTTTCTCAATGAGGTAGGA	0.458		NaN											0	0	0	0.01441	0	57	85				
EP300	2033	broad.mit.edu	37	22	41553350	41553350	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr22:41553350G>T	uc003azl.3	+	18	3834	c.3439G>T	c.(3439-3441)GAG>TAG	p.E1147*		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1147					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						CAAGCTCTCTGAGGTCTTTGA	0.403		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				1	0	1.23713e-20	0.01441	1.36486e-20	48	53		Valid		
TTLL3	26140	broad.mit.edu	37	3	9862298	9862298	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:9862298C>G	uc003btg.2	+	7	814	c.598C>G	c.(598-600)CTG>GTG	p.L200V	ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Missense_Mutation_p.L167V|TTLL3_uc003btf.3_5'UTR|TTLL3_uc010hco.1_Missense_Mutation_p.L136V|TTLL3_uc003bth.3_5'UTR|TTLL3_uc011atj.1_Missense_Mutation_p.L136V|TTLL3_uc003btj.3_5'UTR|TTLL3_uc003bti.3_5'UTR	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	200	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			large_intestine(2)	2	Medulloblastoma(99;0.227)					GGATGAAGCTCTGTGTGCGTG	0.582		NaN											0	0	0	0.01441	0	66	202				
PPARG	5468	broad.mit.edu	37	3	12447409	12447409	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:12447409C>A	uc003bwx.2	+	5	739	c.648C>A	c.(646-648)GCC>GCA	p.A216A	PPARG_uc003bwr.2_Silent_p.A188A|PPARG_uc003bws.2_Silent_p.A188A|PPARG_uc003bwu.2_Silent_p.A188A|PPARG_uc003bwv.2_Silent_p.A188A|PPARG_uc010hea.1_RNA|PPARG_uc003bwq.1_Silent_p.A188A|PPARG_uc003bwt.1_Silent_p.A188A|PPARG_uc003bww.1_Silent_p.A216A	NM_015869	NP_056953	P37231	PPARG_HUMAN	peroxisome proliferative activated receptor	216	Interaction with FAM120B (By similarity).				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|kidney(1)	2					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	TGCCACAGGCCGAGAAGGAGA	0.517		NaN	T	PAX8	follicular thyroid		Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension						1	0	2.98393e-07	0.00278	3.11729e-07	22	120				
FBLN2	2199	broad.mit.edu	37	3	13660497	13660497	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:13660497C>T	uc011avb.1	+	7	2158	c.2033C>T	c.(2032-2034)CCG>CTG	p.P678L	FBLN2_uc011auz.1_Missense_Mutation_p.P704L|FBLN2_uc011ava.1_Missense_Mutation_p.P678L|FBLN2_uc011avc.1_Missense_Mutation_p.P678L	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	678						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CTGCCACTGCCGCAGCCCAAT	0.622		NaN											0	0	0	0.001984	0	7	19				
ZNF385D	79750	broad.mit.edu	37	3	21552450	21552450	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:21552450C>T	uc003cce.2	-	4	750	c.342G>A	c.(340-342)ATG>ATA	p.M114I	ZNF385D_uc010hfb.1_RNA	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	114						nucleus	nucleic acid binding|zinc ion binding			large_intestine(2)|skin(2)|ovary(1)	5						GCTTATTTTTCATGGCTTCCA	0.463		NaN											0	0	0	0.01441	0	72	75				
XYLB	9942	broad.mit.edu	37	3	38401846	38401846	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:38401846C>G	uc003cic.2	+	3	266	c.157C>G	c.(157-159)CAT>GAT	p.H53D	XYLB_uc011ayp.1_Intron|XYLB_uc003cid.1_5'UTR	NM_005108	NP_005099	O75191	XYLB_HUMAN	xylulokinase	53					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GGGTGGTGTTCATGTGCACAA	0.532		NaN											0	0	0	0.01441	0	93	96				
ZNF662	389114	broad.mit.edu	37	3	42954704	42954704	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:42954704C>G	uc003cmi.2	+	4	515	c.163C>G	c.(163-165)CTA>GTA	p.L55V	ZNF662_uc003cmk.2_Intron|ZNF662_uc003cmj.2_Intron	NM_207404	NP_997287	Q6ZS27	ZN662_HUMAN	zinc finger protein 662 isoform 1	55					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.217)		ATATCCATTTCTAAAGCCTGC	0.498		NaN											0	0	0	0.004007	0	16	56				
CCR5	1234	broad.mit.edu	37	3	46415295	46415295	+	Missense_Mutation	SNP	G	G	A	rs1800943		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:46415295G>A	uc003cpo.3	+	3	1024	c.902G>A	c.(901-903)GGG>GAG	p.G301E	CCR5_uc010hjd.2_Missense_Mutation_p.G301E	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5	301	Helical; Name=7; (Potential).				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GCCTTTGTCGGGGAGAAGTTC	0.483		NaN											0	0	0	0.01441	0	293	290				
NBEAL2	23218	broad.mit.edu	37	3	47040469	47040469	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:47040469G>A	uc003cqp.2	+	24	3584	c.3405G>A	c.(3403-3405)CTG>CTA	p.L1135L	NBEAL2_uc010hjm.1_Intron|NBEAL2_uc010hjn.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1135	Leu-rich.						binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CGCTGGACCTGCTGCTGGCCC	0.667		NaN									OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.000602	0	5	16				
BSN	8927	broad.mit.edu	37	3	49692495	49692495	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:49692495G>T	uc003cxe.3	+	5	5620	c.5506G>T	c.(5506-5508)GAG>TAG	p.E1836*		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	1836					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCAGTGCCAGAGCCAGGTGC	0.622		NaN											1	0	7.11191e-15	0.013726	7.70972e-15	33	114				
DOCK3	1795	broad.mit.edu	37	3	51264853	51264853	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:51264853G>A	uc011bds.1	+	16	1540	c.1517G>A	c.(1516-1518)CGC>CAC	p.R506H		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	506	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCCCACCTGCGCTTTGAGTTC	0.468		NaN											0	0	0	0.01441	0	82	103				
RAD54L2	23132	broad.mit.edu	37	3	51673632	51673632	+	Silent	SNP	C	C	T	rs139263625	byFrequency	TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:51673632C>T	uc011bdt.1	+	12	2183	c.2058C>T	c.(2056-2058)GGC>GGT	p.G686G	RAD54L2_uc003dbh.2_Silent_p.G277G|RAD54L2_uc011bdu.1_Silent_p.G380G|RAD54L2_uc003dbj.2_Silent_p.G12G	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	686						nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TCCTACAGGGCGTTGGCTTCA	0.517		NaN											0	0	0	0.006214	0	8	41				
FLNB	2317	broad.mit.edu	37	3	58095302	58095302	+	Splice_Site	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:58095302G>A	uc003djj.2	+	15	2365	c.2200_splice	c.e15-1	p.V734_splice	FLNB_uc010hne.2_Splice_Site_p.V734_splice|FLNB_uc003djk.2_Splice_Site_p.V734_splice|FLNB_uc010hnf.2_Splice_Site_p.V734_splice|FLNB_uc003djl.2_Splice_Site_p.V565_splice|FLNB_uc003djm.2_Splice_Site_p.V565_splice	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2						actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GTCTTCTCTAGGTCAACATCG	0.458		NaN											0	0	0	0.01441	0	74	90				
ROBO2	6092	broad.mit.edu	37	3	77637928	77637928	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:77637928G>C	uc003dpy.3	+	17	3170	c.2527G>C	c.(2527-2529)GAA>CAA	p.E843Q	ROBO2_uc003dpz.2_Missense_Mutation_p.E847Q|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.E847Q|ROBO2_uc003dqa.2_5'UTR	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	843	Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGTCATTACTGAAAACAATAA	0.373		NaN											0	0	0	0.009718	0	45	57				
IMPG2	50939	broad.mit.edu	37	3	100962599	100962599	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:100962599T>C	uc003duq.1	-	13	2779	c.2576A>G	c.(2575-2577)AAT>AGT	p.N859S	IMPG2_uc011bhe.1_Missense_Mutation_p.N722S	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	859	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						AACCTTGCCATTTTGCTCTTG	0.448		NaN											0	0	0	0.01441	0	51	90				
BBX	56987	broad.mit.edu	37	3	107435578	107435578	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:107435578C>T	uc010hpr.2	+	5	614	c.287C>T	c.(286-288)TCT>TTT	p.S96F	BBX_uc003dwk.3_Missense_Mutation_p.S96F|BBX_uc003dwl.3_Missense_Mutation_p.S96F|BBX_uc010hps.1_Missense_Mutation_p.S117F|BBX_uc003dwm.3_Missense_Mutation_p.S96F	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	96	HMG box.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CGCCATCGCTCTCTTGTACGT	0.463		NaN											0	0	0	0.01441	0	111	68				
PHLDB2	90102	broad.mit.edu	37	3	111664202	111664202	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:111664202G>C	uc010hqa.2	+	9	2896	c.2485G>C	c.(2485-2487)GAG>CAG	p.E829Q	PHLDB2_uc003dyc.2_Missense_Mutation_p.E813Q|PHLDB2_uc003dyd.2_Missense_Mutation_p.E786Q|PHLDB2_uc003dyg.2_Missense_Mutation_p.E829Q|PHLDB2_uc003dyh.2_Missense_Mutation_p.E786Q|PHLDB2_uc003dyi.2_Missense_Mutation_p.E415Q	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	829						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						TACTTTAAAAGAGGTAAGCTA	0.348		NaN											0	0	0	0.007291	0	27	20				
GTPBP8	29083	broad.mit.edu	37	3	112710056	112710056	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:112710056C>T	uc003dzn.2	+	1	257	c.210C>T	c.(208-210)ATC>ATT	p.I70I	GTPBP8_uc011bhy.1_RNA|GTPBP8_uc003dzp.2_RNA|GTPBP8_uc003dzo.2_Silent_p.I70I	NM_014170	NP_054889	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 isoform 1	70					barrier septum formation		GTP binding				0						ACCTGCGTATCTTTGACCCAA	0.622		NaN											0	0	0	0.004656	0	25	48				
PLA1A	51365	broad.mit.edu	37	3	119344030	119344030	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:119344030G>A	uc003ecu.2	+	9	1111	c.1072G>A	c.(1072-1074)GAG>AAG	p.E358K	PLA1A_uc003ecv.2_Missense_Mutation_p.E342K|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Missense_Mutation_p.E185K	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN	phospholipase A1 member A precursor	358					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						CACCAACATCGAGGTTACCTT	0.448		NaN											0	0	0	0.01441	0	51	27				
C3orf15	89876	broad.mit.edu	37	3	119456222	119456222	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:119456222G>C	uc003ede.3	+	11	1431	c.1354G>C	c.(1354-1356)GAT>CAT	p.D452H	C3orf15_uc010hqy.1_Missense_Mutation_p.D452H|C3orf15_uc010hqz.2_Missense_Mutation_p.D390H|C3orf15_uc011bjd.1_Missense_Mutation_p.D326H|C3orf15_uc011bje.1_Missense_Mutation_p.D432H|C3orf15_uc010hra.1_Missense_Mutation_p.D213H	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	AAT1-alpha	Error:Variant_position_missing_in_Q7Z4T9_after_alignment						mitochondrion	protein binding			ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.186)		GGCACTGTTGGATAAGAAGAA	0.279		NaN											0	0	0	0.010504	0	21	68				
C3orf15	89876	broad.mit.edu	37	3	119456227	119456227	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:119456227G>A	uc003ede.3	+	11	1436	c.1359G>A	c.(1357-1359)AAG>AAA	p.K453K	C3orf15_uc010hqy.1_Silent_p.K453K|C3orf15_uc010hqz.2_Silent_p.K391K|C3orf15_uc011bjd.1_Silent_p.K327K|C3orf15_uc011bje.1_Silent_p.K433K|C3orf15_uc010hra.1_Silent_p.K214K	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	AAT1-alpha	Error:Variant_position_missing_in_Q7Z4T9_after_alignment						mitochondrion	protein binding			ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.186)		TGTTGGATAAGAAGAATAAAG	0.294		NaN											0	0	0	0.008871	0	20	69				
IQCJ	654502	broad.mit.edu	37	3	158983102	158983102	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:158983102C>T	uc003fcp.1	+	5	495	c.390C>T	c.(388-390)CTC>CTT	p.L130L	SCHIP1_uc003fcq.1_Intron|SCHIP1_uc003fcr.1_Intron|IQCJ_uc010hvy.1_Silent_p.L103L	NM_001042705	NP_001036170	Q1A5X6	IQCJ_HUMAN	IQ motif containing J isoform CaMBPv1	130											0			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			TGATTCTTCTCTACCTTGACC	0.512		NaN											0	0	0	0.01441	0	74	58				
IL1RAP	3556	broad.mit.edu	37	3	190366273	190366273	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:190366273G>C	uc003fsm.1	+	12	1698	c.1492G>C	c.(1492-1494)GTC>CTC	p.V498L	IL1RAP_uc010hzg.1_Missense_Mutation_p.V498L|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.V498L|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Intron	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein isoform	498	Cytoplasmic (Potential).|TIR.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		CAACATCAACGTCATTTTAGT	0.502		NaN											0	0	0	0.01441	0	59	139				
MFI2	4241	broad.mit.edu	37	3	196753550	196753550	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:196753550C>T	uc003fxk.3	-	3	398	c.285G>A	c.(283-285)GTG>GTA	p.V95V	MFI2_uc003fxl.3_Silent_p.V95V|MFI2_uc011bua.1_Silent_p.V95V	NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	95	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		ACACTTCGCCCACCACCGGCT	0.622		NaN											0	0	0	0.004007	0	16	77				
ZNF721	170960	broad.mit.edu	37	4	436965	436965	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:436965T>C	uc003gag.2	-	3	1982	c.1291A>G	c.(1291-1293)AAC>GAC	p.N431D	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.N463D|ZNF721_uc010ibe.2_Missense_Mutation_p.N419D	NM_133474	NP_597731	D9N162	D9N162_HUMAN	zinc finger protein 721	431						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						TCATTCAGGTTTGTGGACAAT	0.373		NaN											0	0	0	0.001984	0	6	44				
FGFR3	2261	broad.mit.edu	37	4	1803738	1803738	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:1803738G>A	uc003gdr.3	+	7	1172	c.916G>A	c.(916-918)GTT>ATT	p.V306I	FGFR3_uc003gdu.2_Missense_Mutation_p.V306I|FGFR3_uc003gds.3_Missense_Mutation_p.V306I|FGFR3_uc003gdq.3_Missense_Mutation_p.V306I|FGFR3_uc010icb.1_Intron|FGFR3_uc003gdt.1_Intron	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	306	Ig-like C2-type 3.|Extracellular (Potential).				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CACACCCTACGTTACCGTGCT	0.667		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.000602	0	5	10		Valid		
ATP10D	57205	broad.mit.edu	37	4	47538788	47538788	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:47538788A>G	uc003gxk.1	+	9	1393	c.1229A>G	c.(1228-1230)TAC>TGC	p.Y410C	ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.Y395C	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	410	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						GTGGATTTCTACAATGAAAAA	0.398		NaN											0	0	0	0.00245	0	14	16				
ATP10D	57205	broad.mit.edu	37	4	47574247	47574247	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:47574247G>A	uc003gxk.1	+	17	3404	c.3240G>A	c.(3238-3240)CAG>CAA	p.Q1080Q	ATP10D_uc003gxl.1_Silent_p.Q328Q	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1080	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						AAGGCATGCAGGTGAGTGGAT	0.498		NaN											0	0	0	0.008361	0	29	34				
GSX2	170825	broad.mit.edu	37	4	54968033	54968033	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:54968033G>A	uc010igp.1	+	2	1123	c.859G>A	c.(859-861)GAG>AAG	p.E287K	PDGFRA_uc003haa.2_Intron	NM_133267	NP_573574	Q9BZM3	GSX2_HUMAN	GS homeobox 2	287						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			CTCCGAGGATGAGGACTCCCT	0.647		NaN											0	0	0	0.00632	0	29	20				
REST	5978	broad.mit.edu	37	4	57777573	57777573	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:57777573A>G	uc003hch.2	+	2	1116	c.769A>G	c.(769-771)ACA>GCA	p.T257A	REST_uc003hci.2_Missense_Mutation_p.T257A|REST_uc003hcj.1_Missense_Mutation_p.T257A|REST_uc010ihf.2_5'UTR	NM_005612	NP_005603	Q13127	REST_HUMAN	RE1-silencing transcription factor	257	C2H2-type 3.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9	Glioma(25;0.08)|all_neural(26;0.181)					CACATACACAACAGTGAGCGA	0.383		NaN											0	0	0	0.010771	0	45	40				
LPHN3	23284	broad.mit.edu	37	4	62800707	62800707	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:62800707G>A	uc010ihh.2	+	11	2231	c.2058G>A	c.(2056-2058)AAG>AAA	p.K686K	LPHN3_uc003hcq.3_Silent_p.K686K|LPHN3_uc003hct.2_Silent_p.K79K|LPHN3_uc003hcs.1_Silent_p.K502K	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	673	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						ACCTTTTGAAGACTGACATTG	0.438		NaN											0	0	0	0.00499	0	15	24				
EPHA5	2044	broad.mit.edu	37	4	66356360	66356360	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:66356360C>A	uc003hcy.2	-	5	1330	c.1137G>T	c.(1135-1137)CCG>CCT	p.P379P	EPHA5_uc003hcx.2_Silent_p.P310P|EPHA5_uc003hcz.2_Silent_p.P379P|EPHA5_uc011cah.1_Silent_p.P379P|EPHA5_uc011cai.1_Silent_p.P379P|EPHA5_uc003hda.2_Silent_p.P379P	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	379	Fibronectin type-III 1.|Extracellular (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						TGTCAGCAGGCGGAATCCATT	0.458		NaN								TSP Lung(17;0.13)			1	0	0.000274275	0.004482	0.00028027	9	47				
USO1	8615	broad.mit.edu	37	4	76721825	76721825	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:76721825G>C	uc003hiu.2	+	15	1912	c.1737G>C	c.(1735-1737)GAG>GAC	p.E579D	USO1_uc003hiv.2_Missense_Mutation_p.E421D|USO1_uc003hiw.2_Missense_Mutation_p.E414D	NM_003715	NP_003706	O60763	USO1_HUMAN	USO1 homolog, vesicle docking protein	579	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATTTCATAGAGAAACTAGGAT	0.348		NaN											0	0	0	0.005524	0	38	25				
ANKRD56	345079	broad.mit.edu	37	4	77817830	77817830	+	Silent	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:77817830G>T	uc003hki.2	-	1	1173	c.1173C>A	c.(1171-1173)CTC>CTA	p.L391L		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	ankyrin repeat domain 56	391											0						CCAGATCTTGGAGGGACAGCT	0.577		NaN											1	0	9.78306e-22	0.009535	1.08572e-21	30	113				
DSPP	1834	broad.mit.edu	37	4	88533799	88533799	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:88533799C>G	uc003hqu.2	+	4	581	c.461C>G	c.(460-462)ACT>AGT	p.T154S		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein preproprotein	154					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			central_nervous_system(1)	1		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AGAAGCAACACTAATGGAAAT	0.438		NaN											0	0	0	0.010504	0	22	31				
CENPE	1062	broad.mit.edu	37	4	104044225	104044225	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:104044225C>G	uc003hxb.1	-	43	7036	c.6946G>C	c.(6946-6948)GAG>CAG	p.E2316Q	CENPE_uc003hxc.1_Missense_Mutation_p.E2195Q	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	2316	Kinetochore-binding domain.|Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCCTCAAACTCTGTTGATTCA	0.264		NaN											0	0	0	0.00623	0	38	36				
PDE5A	8654	broad.mit.edu	37	4	120517758	120517758	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:120517758A>C	uc003idh.2	-	3	906	c.751T>G	c.(751-753)TTC>GTC	p.F251V	PDE5A_uc003idf.2_Missense_Mutation_p.F209V|PDE5A_uc003idg.2_Missense_Mutation_p.F199V	NM_001083	NP_001074	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1	251	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding				0					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	TCTGCATTGAACCGAGGATCC	0.328		NaN											0	0	0	0.00245	0	14	29				
OTUD4	54726	broad.mit.edu	37	4	146058794	146058794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:146058794G>A	uc003ika.3	-	21	3076	c.2938C>T	c.(2938-2940)CAA>TAA	p.Q980*	OTUD4_uc003ijz.3_Nonsense_Mutation_p.Q979*	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	1044							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					CCATAAGTTTGATTATAGAAC	0.408		NaN											0	0	0	0.01441	0	73	131				
ETFDH	2110	broad.mit.edu	37	4	159627494	159627494	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:159627494G>A	uc003iqb.2	+	11	1771	c.1439G>A	c.(1438-1440)GGA>GAA	p.G480E	ETFDH_uc011cjg.1_Missense_Mutation_p.G433E|ETFDH_uc010iqr.2_Missense_Mutation_p.G77E|ETFDH_uc011cjh.1_Missense_Mutation_p.G419E|ETFDH_uc010iqs.2_Missense_Mutation_p.G402E	NM_004453	NP_004444	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	480					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			large_intestine(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		ATATTGAGAGGAATGGAGCCG	0.378		NaN											0	0	0	0.014323	0	22	30				
GLRA3	8001	broad.mit.edu	37	4	175749928	175749928	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:175749928G>A	uc003ity.1	-	1	538	c.35C>T	c.(34-36)TCG>TTG	p.S12L	GLRA3_uc003itz.1_Missense_Mutation_p.S12L|uc003iua.1_5'Flank|uc003iub.1_5'Flank	NM_006529	NP_006520	O75311	GLRA3_HUMAN	glycine receptor, alpha 3 isoform a	12					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(3)	3		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GTAAAATCCCGAAACTAATGT	0.458		NaN											0	0	0	0.010504	0	21	29				
C5orf42	65250	broad.mit.edu	37	5	37183592	37183592	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:37183592C>G	uc011cpa.1	-	26	4922	c.4691G>C	c.(4690-4692)AGA>ACA	p.R1564T	C5orf42_uc011coy.1_Missense_Mutation_p.R65T|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.R639T|C5orf42_uc011cpb.1_Missense_Mutation_p.R445T	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	1564										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AGGTAGGTCTCTTTCAAGAAT	0.323		NaN											0	0	0	0.008871	0	20	54				
SNX18	112574	broad.mit.edu	37	5	53815261	53815261	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:53815261C>T	uc003jpj.3	+	1	1669	c.1479C>T	c.(1477-1479)ATC>ATT	p.I493I	SNX18_uc011cqg.1_Silent_p.I493I|SNX18_uc003jpi.3_Silent_p.I493I	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	sorting nexin 18 isoform b	493	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding				0		Lung NSC(810;3.46e-05)|Breast(144;0.102)				ACCAGGCTATCGCCTTCACCG	0.607		NaN											0	0	0	0.013726	0	34	56				
ADAMTS6	11174	broad.mit.edu	37	5	64629868	64629868	+	Splice_Site	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:64629868C>A	uc003jtp.2	-	8	1931	c.1117_splice	c.e8+1	p.G373_splice	ADAMTS6_uc003jto.2_Splice_Site|ADAMTS6_uc003jtq.2_Splice_Site|ADAMTS6_uc003jtr.1_Splice_Site	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		aaaaaaCTTACCCAGTGTTCC	0.244		NaN											1	0	0.00198382	0.001984	0.00202166	6	12				
C5orf44	80006	broad.mit.edu	37	5	64954221	64954221	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:64954221G>C	uc003jtz.3	+	9	921	c.591G>C	c.(589-591)CAG>CAC	p.Q197H	C5orf44_uc003jua.3_Missense_Mutation_p.Q197H|C5orf44_uc003juc.3_Missense_Mutation_p.Q191H|C5orf44_uc010iwv.2_Missense_Mutation_p.Q191H	NM_024941	NP_079217	A5PLN9	CE044_HUMAN	hypothetical protein LOC80006 isoform 2	197										ovary(1)	1						TGGAAGCCCAGATTCAGAATA	0.353		NaN											0	0	0	0.001984	0	7	4				
TNPO1	3842	broad.mit.edu	37	5	72192882	72192882	+	Splice_Site	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:72192882G>C	uc003kck.3	+	20	2390	c.2243_splice	c.e20-1	p.G748_splice	TNPO1_uc011csj.1_Splice_Site_p.G698_splice|TNPO1_uc003kch.2_Splice_Site_p.G740_splice|TNPO1_uc003kci.3_Splice_Site_p.G740_splice|TNPO1_uc003kcg.3_Splice_Site_p.G740_splice	NM_002270	NP_002261	Q92973	TNPO1_HUMAN	transportin 1 isoform 1						interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		ATGATCTCTAGGTATAGAGAT	0.343		NaN											0	0	0	0.00333	0	25	23				
GPR98	84059	broad.mit.edu	37	5	90055402	90055402	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:90055402G>A	uc003kju.2	+	58	12213	c.12117G>A	c.(12115-12117)AAG>AAA	p.K4039K	GPR98_uc003kjt.2_Silent_p.K1745K|GPR98_uc003kjv.2_Silent_p.K1639K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	4039	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGAAGAAAAGACTGTAAGTT	0.373		NaN											0	0	0	0.009096	0	4	8				
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139889343	139889343	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:139889343T>C	uc003lfs.1	+	21	4011	c.3887T>C	c.(3886-3888)TTA>TCA	p.L1296S	ANKHD1_uc003lfq.1_Missense_Mutation_p.L1315S|ANKHD1_uc003lfr.2_Missense_Mutation_p.L1296S|ANKHD1_uc003lft.1_Missense_Mutation_p.L507S|ANKHD1_uc003lfu.1_Missense_Mutation_p.L776S|ANKHD1_uc003lfv.1_Missense_Mutation_p.L373S|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.L35S|ANKHD1_uc003lfw.2_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1296						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATACTGCTTTAACAATAGCA	0.408		NaN											0	0	0	0.005443	0	27	26				
PCDHB3	56132	broad.mit.edu	37	5	140481673	140481673	+	Silent	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:140481673A>G	uc003lio.2	+	1	1440	c.1440A>G	c.(1438-1440)TCA>TCG	p.S480S	uc003lin.2_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	480	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGAGACTCAGGCACCAACG	0.647		NaN											0	0	0	0.01441	0	69	105				
PCDHB5	26167	broad.mit.edu	37	5	140516673	140516673	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:140516673G>A	uc003liq.2	+	1	1874	c.1657G>A	c.(1657-1659)GCC>ACC	p.A553T		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	553	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCTGGACGCCAACGACAA	0.716		NaN											0	0	0	0.00278	0	23	56				
KIAA0141	9812	broad.mit.edu	37	5	141309811	141309811	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:141309811C>T	uc003lls.2	+	7	848	c.726C>T	c.(724-726)CTC>CTT	p.L242L	KIAA0141_uc003llt.2_Silent_p.L242L	NM_001142603	NP_001136075	Q14154	DELE_HUMAN	hypothetical protein LOC9812 precursor	242	TPR 1.				apoptosis|regulation of caspase activity	mitochondrion	protein binding			skin(1)	1		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCCAGCTCAGTGTTTCCA	0.473		NaN											0	0	0	0.001855	0	11	24				
ADRB2	154	broad.mit.edu	37	5	148207103	148207103	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:148207103G>C	uc003lpr.1	+	1	948	c.709G>C	c.(709-711)GAG>CAG	p.E237Q	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	adrenergic, beta-2-, receptor, surface	237	Cytoplasmic.				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	TGACAAATCTGAGGGCCGCTT	0.547		NaN											0	0	0	0.001168	0	6	100				
GABRG2	2566	broad.mit.edu	37	5	161580368	161580368	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:161580368C>A	uc003lyz.3	+	9	1756	c.1398C>A	c.(1396-1398)TAC>TAA	p.Y466*	GABRG2_uc010jjc.2_Nonsense_Mutation_p.Y514*|GABRG2_uc003lyy.3_Nonsense_Mutation_p.Y474*|GABRG2_uc011dej.1_Nonsense_Mutation_p.Y371*	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	466	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CCTACCTCTACCTGTGAGGAG	0.443		NaN											1	0	1.07363e-35	0.01441	1.2242e-35	74	114				
CLK4	57396	broad.mit.edu	37	5	178050303	178050303	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:178050303C>T	uc003mjf.1	-	2	223	c.115G>A	c.(115-117)GAG>AAG	p.E39K	CLK4_uc003mjg.1_5'UTR|CLK4_uc010jku.1_5'UTR|CLK4_uc003mjh.1_5'UTR|CLK4_uc010jkv.1_RNA|CLK4_uc011dgg.1_Missense_Mutation_p.E39K|CLK4_uc011dgh.1_5'UTR|CLK4_uc011dgi.1_Missense_Mutation_p.E39K|CLK4_uc011dgj.1_Missense_Mutation_p.E39K|CLK4_uc003mji.2_Missense_Mutation_p.E39K|CLK4_uc010jkw.1_Missense_Mutation_p.E39K	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	39						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(1)	1	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		TGCCTGTTCTCTTGTGTGCTA	0.388		NaN											0	0	0	0.01441	0	55	53				
GMDS	2762	broad.mit.edu	37	6	1624454	1624454	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:1624454C>T	uc003mtq.2	-	11	1259	c.1069G>A	c.(1069-1071)GAG>AAG	p.E357K		NM_001500	NP_001491	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	357					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity			central_nervous_system(1)	1	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TGCACCATCTCCCTCACCAGC	0.677		NaN											0	0	0	0.007413	0	17	15				
HIST1H2BI	8346	broad.mit.edu	37	6	26273579	26273579	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:26273579A>T	uc003nhk.2	+	1	376	c.376A>T	c.(376-378)AAG>TAG	p.K126*	HIST1H3G_uc003nhi.2_5'Flank	NM_003525	NP_003516	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	126					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding				0						CACCAGCTCCAAGTAAACTAG	0.537		NaN											0	0	0	0.004656	0	27	31				
LY6G6F	259215	broad.mit.edu	37	6	31675751	31675751	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:31675751G>A	uc003nwa.1	+	3	486	c.486G>A	c.(484-486)GGG>GGA	p.G162G	BAT5_uc011dnz.1_Intron|LY6G6F_uc003nwb.1_Silent_p.G162G	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN	G6f protein precursor	162	Extracellular (Potential).					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)	2						GGCAGGAAGGGAAGGGTCCCG	0.627		NaN											0	0	0	0.01441	0	51	79				
PSMB8	5696	broad.mit.edu	37	6	32809989	32809989	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:32809989C>A	uc003oce.2	-	4	502	c.459G>T	c.(457-459)AAG>AAT	p.K153N	PSMB8_uc003ocf.2_Missense_Mutation_p.K149N|PSMB8_uc011dqh.1_3'UTR	NM_148919	NP_683720	P28062	PSB8_HUMAN	proteasome beta 8 subunit isoform E2 proprotein	153					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			skin(1)	1						TGGACAGCAGCTTGGAGGCTG	0.522		NaN											1	0	2.56175e-15	0.01441	2.78515e-15	48	47				
ZBTB9	221504	broad.mit.edu	37	6	33424237	33424237	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:33424237C>G	uc003oeq.2	+	2	1628	c.1360C>G	c.(1360-1362)CTC>GTC	p.L454V		NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	454	C2H2-type 2; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGCCTGTTTTCTCCGCCACCG	0.572		NaN											0	0	0	0.01441	0	65	54				
DAAM2	23500	broad.mit.edu	37	6	39847178	39847178	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:39847178C>T	uc003oow.2	+	14	1926	c.1770C>T	c.(1768-1770)GAC>GAT	p.D590D	DAAM2_uc010jxc.2_Silent_p.D590D|DAAM2_uc003oox.2_Silent_p.D590D	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	590	FH1.|Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCAGCAGTGACGTCCCACTCA	0.597		NaN											0	0	0	0.010818	0	32	39				
GNMT	27232	broad.mit.edu	37	6	42930028	42930028	+	Silent	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:42930028A>G	uc003otd.2	+	2	291	c.285A>G	c.(283-285)GCA>GCG	p.A95A	uc003ote.1_5'Flank	NM_018960	NP_061833	Q14749	GNMT_HUMAN	glycine N-methyltransferase	95					protein homotetramerization|protein modification process|S-adenosylmethionine metabolic process		folic acid binding|glycine binding|glycine N-methyltransferase activity				0	Colorectal(47;0.196)		all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461)		Glycine(DB00145)|S-Adenosylmethionine(DB00118)	TGAAGTATGCACTTAAGGAGC	0.592		NaN											0	0	0	0.00632	0	29	50				
PKHD1	5314	broad.mit.edu	37	6	51887631	51887631	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:51887631G>A	uc003pah.1	-	33	5624	c.5348C>T	c.(5347-5349)TCT>TTT	p.S1783F	PKHD1_uc003pai.2_Missense_Mutation_p.S1783F	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1783	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					GCTGAAGGCAGACACTGTAGC	0.473		NaN											0	0	0	0.005524	0	38	40				
KHDC1	80759	broad.mit.edu	37	6	73951907	73951907	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:73951907G>A	uc003pgo.2	-	4	886	c.385C>T	c.(385-387)CAG>TAG	p.Q129*	KHDC1_uc011dyl.1_RNA|KHDC1_uc003pgn.3_Nonsense_Mutation_p.Q56*	NM_030568	NP_085045	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	129	KH; atypical.					integral to membrane	RNA binding			skin(1)	1						CTCTCCAGCTGAATAAGGGTG	0.547		NaN											0	0	0	0.010729	0	11	58				
BACH2	60468	broad.mit.edu	37	6	90642597	90642597	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:90642597C>G	uc011eab.1	-	9	2865	c.2056G>C	c.(2056-2058)GAG>CAG	p.E686Q	BACH2_uc003pnw.2_Missense_Mutation_p.E686Q	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	686	Leucine-zipper.					nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		AACAGTTTCTCTTTCTCACAC	0.473		NaN											0	0	0	0.00874	0	43	33				
RTN4IP1	84816	broad.mit.edu	37	6	107040127	107040127	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:107040127C>A	uc003prj.2	-	6	1195	c.718G>T	c.(718-720)GCC>TCC	p.A240S	RTN4IP1_uc010kdd.2_Intron|RTN4IP1_uc003prk.2_Missense_Mutation_p.A140S	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1 precursor	240						mitochondrion	oxidoreductase activity|zinc ion binding				0	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		AGTTCACTGGCATCTTGGGAG	0.398		NaN											1	0	1.86277e-20	0.01441	2.04905e-20	56	47				
ROS1	6098	broad.mit.edu	37	6	117683989	117683989	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:117683989G>C	uc003pxp.1	-	21	3357	c.3158C>G	c.(3157-3159)CCA>CGA	p.P1053R	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	1053	Fibronectin type-III 5.|Extracellular (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)		TTTTCCACTTGGTAATATAAA	0.348		NaN	T	GOPC|ROS1	glioblastoma|NSCLC								0	0	0	0.013537	0	13	55				
C6orf174	387104	broad.mit.edu	37	6	127796661	127796661	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:127796661C>G	uc003qbd.2	-	6	3375	c.2510G>C	c.(2509-2511)AGC>ACC	p.S837T	C6orf174_uc003qbc.2_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	837						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		GATGATGGTGCTCGTGTCGGC	0.662		NaN											0	0	0	0.01441	0	55	148				
SAMD3	154075	broad.mit.edu	37	6	130535635	130535635	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:130535635T>C	uc003qbv.2	-	5	442	c.116A>G	c.(115-117)AAT>AGT	p.N39S	SAMD3_uc003qbx.2_Missense_Mutation_p.N39S|SAMD3_uc003qbw.2_Missense_Mutation_p.N39S|SAMD3_uc010kfg.1_Missense_Mutation_p.N39S|SAMD3_uc003qby.2_Missense_Mutation_p.N39S|SAMD3_uc003qbz.1_5'UTR	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3 isoform	39	SAM.									ovary(1)	1				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CATCCGATCATTAAGTGCAAG	0.408		NaN											0	0	0	0.01441	0	60	58				
SMOC2	64094	broad.mit.edu	37	6	169064760	169064760	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:169064760G>A	uc003qws.1	+	12	1312	c.1292G>A	c.(1291-1293)AGA>AAA	p.R431K	SMOC2_uc003qwr.1_Missense_Mutation_p.R442K|SMOC2_uc011egu.1_Missense_Mutation_p.R108K	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	431					signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CTAGCCCCCAGAGGTCATGCT	0.299		NaN											0	0	0	0.010729	0	10	73				
INTS1	26173	broad.mit.edu	37	7	1524940	1524940	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:1524940G>C	uc003skn.2	-	23	3243	c.3142C>G	c.(3142-3144)CTG>GTG	p.L1048V	INTS1_uc003skp.1_Missense_Mutation_p.L395V	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	1048					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGCAGGGCCAGGGCTGTGGTG	0.687		NaN											0	0	0	0.00245	0	14	89				
NXPH1	30010	broad.mit.edu	37	7	8791209	8791209	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:8791209T>C	uc003srv.2	+	3	1537	c.626T>C	c.(625-627)CTC>CCC	p.L209P	NXPH1_uc011jxh.1_Missense_Mutation_p.L92P	NM_152745	NP_689958	P58417	NXPH1_HUMAN	neurexophilin 1 precursor	209	V (Cys-rich).					extracellular region				ovary(1)|central_nervous_system(1)	2		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		AAGAACACACTCTGCAACTAT	0.413		NaN											0	0	0	0.008291	0	10	72				
HECW1	23072	broad.mit.edu	37	7	43484767	43484767	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:43484767G>A	uc003tid.1	+	11	2601	c.1996G>A	c.(1996-1998)GGG>AGG	p.G666R	HECW1_uc011kbi.1_Missense_Mutation_p.G666R	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	666					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						CAGGCAAGGCGGGGACCACAG	0.692		NaN											0	0	0	0.001855	0	10	78				
POM121	9883	broad.mit.edu	37	7	72413896	72413896	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:72413896A>G	uc003twk.2	+	11	3364	c.3364A>G	c.(3364-3366)ACC>GCC	p.T1122A	POM121_uc003twj.2_Missense_Mutation_p.T857A|POM121_uc010lam.1_Missense_Mutation_p.T857A	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	nuclear pore membrane protein 121	1122	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore					0		Lung NSC(55;0.163)				AGGCTCCAGCACCACCACCGG	0.637		NaN											0	0	0	0.001168	0	5	72				
SEMA3E	9723	broad.mit.edu	37	7	83035312	83035312	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:83035312C>T	uc003uhy.1	-	8	1343	c.877G>A	c.(877-879)GTT>ATT	p.V293I		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	293	Sema.				axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)				ACTGAGCAAACGAGTCTCGCT	0.348		NaN											0	0	0	0.01441	0	63	78				
ZNF804B	219578	broad.mit.edu	37	7	88963539	88963539	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:88963539G>C	uc011khi.1	+	4	1781	c.1243G>C	c.(1243-1245)GAT>CAT	p.D415H		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	415						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)			AAAATCTTTAGATAAAACAGA	0.368		NaN								HNSCC(36;0.09)			0	0	0	0.004482	0	9	94				
SRRT	51593	broad.mit.edu	37	7	100485476	100485476	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:100485476C>T	uc003uwy.2	+	18	2590	c.2322C>T	c.(2320-2322)GCC>GCT	p.A774A	SRRT_uc010lhl.1_Silent_p.A773A|SRRT_uc003uxa.2_Silent_p.A773A|SRRT_uc003uwz.2_Silent_p.A774A	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	arsenate resistance protein 2 isoform a	774	Pro-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			ovary(2)	2						CTGGCCCCGCCCAGAGTAAGA	0.532		NaN											0	0	0	0.000602	0	5	150				
WNT2	7472	broad.mit.edu	37	7	116960744	116960744	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:116960744G>A	uc003viz.2	-	2	487	c.187C>T	c.(187-189)CGT>TGT	p.R63C	WNT2_uc003vja.2_5'UTR	NM_003391	NP_003382	P09544	WNT2_HUMAN	wingless-type MMTV integration site family	63					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CTAATGGCACGCATCACATCT	0.607		NaN											0	0	0	0.013726	0	35	6				
OPN1SW	611	broad.mit.edu	37	7	128415628	128415628	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:128415628G>C	uc003vnt.3	-	1	217	c.217C>G	c.(217-219)CTG>GTG	p.L73V		NM_001708	NP_001699	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	73	Helical; Name=2; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0						ACGTTGACCAGAATGTAGTTG	0.537		NaN											0	0	0	0.01441	0	174	41				
FLNC	2318	broad.mit.edu	37	7	128481267	128481267	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:128481267C>A	uc003vnz.3	+	12	2066	c.1857C>A	c.(1855-1857)GAC>GAA	p.D619E	FLNC_uc003voa.3_Missense_Mutation_p.D619E	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	619	Filamin 4.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						TCGAATGTGACGACAAGGGGG	0.627		NaN											1	0	2.48551e-13	0.00499	2.66355e-13	15	191				
C7orf33	202865	broad.mit.edu	37	7	148288208	148288208	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:148288208C>A	uc003wew.2	+	1	552	c.191C>A	c.(190-192)ACG>AAG	p.T64K		NM_145304	NP_660347	Q8WU49	CG033_HUMAN	hypothetical protein LOC202865	64										central_nervous_system(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TCATATGCCACGGGAAGACAT	0.473		NaN											1	0	5.77035e-48	0.01441	6.66083e-48	101	27				
MSR1	4481	broad.mit.edu	37	8	15978045	15978045	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:15978045G>T	uc003wwz.2	-	9	1302	c.1104C>A	c.(1102-1104)AGC>AGA	p.S368R	MSR1_uc010lsu.2_Missense_Mutation_p.S386R|MSR1_uc003wxa.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	368	SRCR.|Extracellular (Potential).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			ovary(1)	1				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCCACTGGCCGCTGTGGAGTA	0.517		NaN											1	0	1.61004e-24	0.01441	1.79213e-24	49	10				
KCNU1	157855	broad.mit.edu	37	8	36693884	36693884	+	Splice_Site	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:36693884G>A	uc010lvw.2	+	13	1452	c.1365_splice	c.e13+1	p.K455_splice	KCNU1_uc003xjw.2_Splice_Site	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1							voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCATAACAAGGTATAGTAACA	0.333		NaN											0	0	0	0.004672	0	3	21				
ZFHX4	79776	broad.mit.edu	37	8	77763532	77763532	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:77763532C>T	uc003yav.2	+	10	4627	c.4240C>T	c.(4240-4242)CTA>TTA	p.L1414L	ZFHX4_uc003yau.1_Silent_p.L1459L|ZFHX4_uc003yaw.1_Silent_p.L1414L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1414						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)			ACTTCAACAGCTATATGCCTC	0.493		NaN								HNSCC(33;0.089)			0	0	0	0.001855	0	13	38				
VPS13B	157680	broad.mit.edu	37	8	100443874	100443874	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:100443874G>A	uc003yiv.2	+	22	3303	c.3192G>A	c.(3190-3192)GTG>GTA	p.V1064V	VPS13B_uc003yiw.2_Silent_p.V1064V|VPS13B_uc003yiu.1_Silent_p.V1064V|VPS13B_uc003yix.1_Silent_p.V534V	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1064					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GGAATGCAGTGAAGCATCTCA	0.308		NaN											0	0	0	0.00499	0	18	54				
PKHD1L1	93035	broad.mit.edu	37	8	110457235	110457235	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:110457235G>A	uc003yne.2	+	38	5241	c.5137G>A	c.(5137-5139)GAA>AAA	p.E1713K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1713	IPT/TIG 9.|Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATTGAATGTGAAACATCCCC	0.443		NaN								HNSCC(38;0.096)			0	0	0	0.006214	0	9	283				
CSMD3	114788	broad.mit.edu	37	8	114327003	114327003	+	Silent	SNP	A	A	T	rs148820468		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:114327003A>T	uc003ynu.2	-	2	357	c.198T>A	c.(196-198)GGT>GGA	p.G66G	CSMD3_uc003ynt.2_Silent_p.G26G|CSMD3_uc011lhx.1_Silent_p.G66G|CSMD3_uc010mcx.1_Silent_p.G66G|CSMD3_uc003ynx.3_Silent_p.G66G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	66	Extracellular (Potential).|CUB 1.					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						TTAAAGTTCCACCACATGTAT	0.313		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			0	0	0	0.00632	0	29	63				
FAM84B	157638	broad.mit.edu	37	8	127569335	127569335	+	Silent	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:127569335G>C	uc003yrz.1	-	2	584	c.300C>G	c.(298-300)GGC>GGG	p.G100G		NM_174911	NP_777571	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	100						cytoplasm|plasma membrane	protein binding				0	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			GCGCCGCCGAGCCCGGCGCGA	0.657		NaN											0	0	0	0.01441	0	48	21				
PLEC	5339	broad.mit.edu	37	8	144992886	144992886	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:144992886C>G	uc003zaf.1	-	32	11684	c.11514G>C	c.(11512-11514)AGG>AGC	p.R3838S	PLEC_uc003zab.1_Missense_Mutation_p.R3701S|PLEC_uc003zac.1_Missense_Mutation_p.R3705S|PLEC_uc003zad.2_Missense_Mutation_p.R3701S|PLEC_uc003zae.1_Missense_Mutation_p.R3669S|PLEC_uc003zag.1_Missense_Mutation_p.R3679S|PLEC_uc003zah.2_Missense_Mutation_p.R3687S|PLEC_uc003zaj.2_Missense_Mutation_p.R3728S	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3838	Globular 2.|Plectin 17.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TCAGTGTCTGCCTGGAACCGG	0.662		NaN											0	0	0	0.014323	0	22	88				
GPT	2875	broad.mit.edu	37	8	145731256	145731256	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:145731256C>T	uc011lli.1	+	7	922	c.765C>T	c.(763-765)ATC>ATT	p.I255I	GPT_uc011llj.1_Silent_p.I255I|GPT_uc003zdh.3_Silent_p.I255I	NM_005309	NP_005300	P24298	ALAT1_HUMAN	glutamic pyruvate transaminase	255					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)|central_nervous_system(1)	2	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GCGAGTGCATCGAGGCCGTGA	0.736		NaN											0	0	0	0.001168	0	5	12				
DMRT2	10655	broad.mit.edu	37	9	1056399	1056399	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:1056399C>G	uc003zha.2	+	4	1012	c.812C>G	c.(811-813)CCC>CGC	p.P271R	DMRT2_uc003zgx.3_Missense_Mutation_p.P38R|DMRT2_uc010mgz.2_Missense_Mutation_p.P38R|DMRT2_uc003zgy.3_Missense_Mutation_p.P115R|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Missense_Mutation_p.P271R	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor	271					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CTGTTTCTGCCCAACCGCATG	0.473		NaN											0	0	0	0.010504	0	21	154				
SMARCA2	6595	broad.mit.edu	37	9	2104016	2104016	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:2104016C>T	uc003zhc.2	+	23	3238	c.3139C>T	c.(3139-3141)CGG>TGG	p.R1047W	SMARCA2_uc003zhd.2_Missense_Mutation_p.R1047W|SMARCA2_uc010mha.2_Missense_Mutation_p.R980W	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1047					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TGAACTGTATCGGGCCTCAGG	0.408		NaN											0	0	0	0.01441	0	120	93		Valid		
C9orf123	90871	broad.mit.edu	37	9	7798477	7798477	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:7798477C>T	uc003zki.2	-	2	393	c.349G>A	c.(349-351)GTA>ATA	p.V117I	C9orf123_uc003zkj.2_3'UTR			Q96GE9	CI123_HUMAN	Homo sapiens cDNA FLJ46908 fis, clone FEBRA2004867.	Error:Variant_position_missing_in_Q96GE9_after_alignment						integral to membrane					0		all_cancers(3;0.0539)|Lung NSC(3;3.36e-05)|all_lung(3;0.000156)|all_epithelial(3;0.0356)		GBM - Glioblastoma multiforme(50;0.0561)		TGTCCATGTACAAGTGTCTGT	0.443		NaN											0	0	0	0.00245	0	15	29				
TAF1L	138474	broad.mit.edu	37	9	32634258	32634258	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:32634258G>C	uc003zrg.1	-	1	1410	c.1320C>G	c.(1318-1320)ATC>ATG	p.I440M	uc003zrh.1_RNA	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	440					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTTTGTGTTTGATATCCTCCC	0.468		NaN											0	0	0	0.01441	0	213	143				
ANKS6	203286	broad.mit.edu	37	9	101536318	101536318	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:101536318C>T	uc004ayu.2	-	9	1683	c.1662G>A	c.(1660-1662)CTG>CTA	p.L554L	ANKS6_uc004ayt.2_Silent_p.L253L|ANKS6_uc004ayv.1_Silent_p.L16L|ANKS6_uc004ayw.1_Silent_p.L136L|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	554										ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)				TGACTGCTTTCAGCTTGTCAC	0.582		NaN											0	0	0	0.007413	0	15	45				
NEK6	10783	broad.mit.edu	37	9	127113225	127113225	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:127113225G>A	uc004bog.2	+	10	1090	c.941G>A	c.(940-942)TGA>TAA	p.*314*	NEK6_uc004bof.2_Silent_p.*332*|NEK6_uc004boh.2_Silent_p.*348*|NEK6_uc010mwj.2_Silent_p.*267*|NEK6_uc010mwk.2_Silent_p.*314*|NEK6_uc004boi.2_Silent_p.*314*|LOC100129034_uc010mwl.2_5'Flank	NM_014397	NP_055212	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6 isoform 2	314					apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			ovary(2)|kidney(1)	3						TCCAGCACCTGAGCGTGGATG	0.562		NaN											0	0	0	0.003954	0	25	41				
RXRA	6256	broad.mit.edu	37	9	137328351	137328351	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:137328351C>A	uc004cfb.2	+	10	1442	c.1280C>A	c.(1279-1281)TCC>TAC	p.S427Y	RXRA_uc004cfc.1_Missense_Mutation_p.S330Y	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GCTCTGCGCTCCATCGGGCTC	0.607		NaN											1	0	5.05997e-48	0.01441	5.85891e-48	73	47		Valid		
COL5A1	1289	broad.mit.edu	37	9	137704337	137704337	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:137704337G>A	uc004cfe.2	+	47	4115	c.3733G>A	c.(3733-3735)GTG>ATG	p.V1245M		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1245	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GACAGGAGACGTGGGCCAGAT	0.537		NaN											0	0	0	0.01441	0	45	35				
DHRSX	207063	broad.mit.edu	37	X	2209621	2209621	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:2209621C>T	uc004cqf.3	-	4	359	c.310G>A	c.(310-312)GCT>ACT	p.A104T		NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	104							binding|oxidoreductase activity				0		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GTCATGGAAGCCAAGTCACAG	0.398		NaN											0	0	0	0.01441	0	186	150				
STS	412	broad.mit.edu	37	X	7175544	7175544	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:7175544C>T	uc004cry.3	+	4	557	c.312C>T	c.(310-312)TTC>TTT	p.F104F		NM_000351	NP_000342	P08842	STS_HUMAN	steryl-sulfatase precursor	104	Lumenal.				female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			central_nervous_system(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	TTTTCCTCTTCACAGCCTCTT	0.498		NaN							Ichthyosis				0	0	0	0.009096	0	4	69				
MOSPD2	158747	broad.mit.edu	37	X	14932633	14932633	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:14932633A>C	uc004cwi.2	+	11	1089	c.1001A>C	c.(1000-1002)GAA>GCA	p.E334A	MOSPD2_uc004cwj.2_Missense_Mutation_p.E271A	NM_152581	NP_689794	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	334	MSP.					integral to membrane	structural molecule activity			lung(1)	1	Hepatocellular(33;0.183)					AGCCCAGCAGAAGAACTGTAC	0.299		NaN											0	0	0	0.013726	0	31	2				
RNF128	79589	broad.mit.edu	37	X	106038818	106038818	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:106038818C>G	uc004eml.2	+	7	1412	c.1162C>G	c.(1162-1164)CTA>GTA	p.L388V	RNF128_uc004emk.2_Missense_Mutation_p.L362V	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	ring finger protein 128 isoform 1	388						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			ovary(1)|central_nervous_system(1)	2						AGATGAAAGTCTACAGCTGGT	0.358		NaN											0	0	0	0.01441	0	48	54				
ARHGEF6	9459	broad.mit.edu	37	X	135761777	135761777	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:135761777G>A	uc004fab.2	-	16	2209	c.1747C>T	c.(1747-1749)CCT>TCT	p.P583S	ARHGEF6_uc011mwd.1_Missense_Mutation_p.P456S|ARHGEF6_uc011mwe.1_Missense_Mutation_p.P429S	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	583					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)					ATAATTTGAGGAGGCTCCAAG	0.473		NaN											0	0	0	0.004482	0	7	143				
SLC6A8	6535	broad.mit.edu	37	X	152959662	152959662	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:152959662G>T	uc004fib.3	+	9	1610	c.1332G>T	c.(1330-1332)GAG>GAT	p.E444D	SLC6A8_uc004fic.3_Missense_Mutation_p.E434D|SLC6A8_uc011myx.1_Missense_Mutation_p.E329D|SLC6A8_uc010nuj.2_RNA	NM_005629	NP_005620	P48029	SC6A8_HUMAN	solute carrier family 6 member 8 isoform 1	444	Cytoplasmic (Potential).				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	TCCAAAGGGAGATCTCTGTGG	0.607		NaN											1	0	2.9551e-36	0.01441	3.37984e-36	100	5				
HCFC1	3054	broad.mit.edu	37	X	153236183	153236183	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:153236183G>A	uc004fjp.2	-	1	637	c.109C>T	c.(109-111)CGC>TGC	p.R37C	TMEM187_uc004fjq.2_5'Flank	NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	37					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R37C(1)		ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCACGGCGCGGTGGCCGTGG	0.682		NaN											0	0	0	0.004007	0	13	4				
FLNA	2316	broad.mit.edu	37	X	153588566	153588566	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:153588566C>T	uc004fkk.2	-	22	3846	c.3597G>A	c.(3595-3597)TCG>TCA	p.S1199S	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Silent_p.S1199S	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	1199	Filamin 10.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCCGCCTCCGAGCAGATCT	0.677		NaN											0	0	0	0.004007	0	14	40				
GAB3	139716	broad.mit.edu	37	X	153944442	153944442	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:153944442C>G	uc004fmj.1	-	2	283	c.235G>C	c.(235-237)GAA>CAA	p.E79Q	GAB3_uc004fmk.1_Missense_Mutation_p.E79Q|GAB3_uc010nve.1_Missense_Mutation_p.E79Q|GAB3_uc004fml.1_5'UTR	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN	Gab3 protein isoform 2	79	PH.									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)					TTCTGAAATTCCTTCCGAACA	0.502		NaN											0	0	0	0.01441	0	89	62				
KDM5D	8284	broad.mit.edu	37	Y	21878276	21878276	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrY:21878276C>G	uc004fug.2	-	15	2208	c.1920G>C	c.(1918-1920)AAG>AAC	p.K640N	KDM5D_uc011naz.1_Missense_Mutation_p.K671N|KDM5D_uc010nwy.2_Missense_Mutation_p.K583N|KDM5D_uc011nba.1_Missense_Mutation_p.K640N|KDM5D_uc004fuf.2_5'Flank	NM_004653	NP_004644	Q9BY66	KDM5D_HUMAN	jumonji, AT rich interactive domain 1D isoform	640					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			skin(1)	1					Vitamin C(DB00126)	AGGCAGCCATCTTGCAGATGA	0.552		NaN											0	0	0	0.01441	0	48	4				
RPL22	6146	broad.mit.edu	37	1	6257784	6257785	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:6257784_6257785insT	uc001amd.2	-	2	90_91	c.44_45insA	c.(43-45)AAGfs	p.K15fs	RPL22_uc001ame.2_Frame_Shift_Ins_p.K15fs	NM_000983	NP_000974	P35268	RL22_HUMAN	ribosomal protein L22 proprotein	15					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome				0	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GAACTTGCTTCTTTTTTTTGCC	0.401		NaN	T	RUNX1	AML|CML								NaN	NaN	NaN	NaN	NaN	38	20	---		---	---
FREM2	341640	broad.mit.edu	37	13	39261881	39261881	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr13:39261881delG	uc001uwv.2	+	1	709	c.400delG	c.(400-402)GGCfs	p.G134fs		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	134	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTTTGGCCCTGGCGAGGTGCG	0.716		NaN											NaN	NaN	NaN	NaN	NaN	9	17	---		---	---
KRT10	3858	broad.mit.edu	37	17	38978766	38978768	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:38978766_38978768delTCC	uc002hvi.2	-	1	96_98	c.70_72delGGA	c.(70-72)GGAdel	p.G24del	KRT10_uc010cxd.2_5'Flank|TMEM99_uc002hvj.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	keratin 10	24	Head.|Gly-rich.			Missing (in Ref. 1; AAA60544).	epidermis development		protein binding|structural constituent of epidermis				0		Breast(137;0.000301)				ctcctccacatcctcctcctcct	0.409		NaN											NaN	NaN	NaN	NaN	NaN	7	91	---		---	---
LRFN2	57497	broad.mit.edu	37	6	40400554	40400557	+	Frame_Shift_Del	DEL	TCGA	TCGA	-			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:40400554_40400557delTCGA	uc003oph.1	-	2	761_764	c.296_299delTCGA	c.(295-300)CTCGAGfs	p.L99fs		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	99_100	Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCGGAGGCTCTCGAGGTCCAGAAA	0.603		NaN											NaN	NaN	NaN	NaN	NaN	14	37	---		---	---
PRIM2	5558	broad.mit.edu	37	6	57512916	57512917	+	Splice_Site	INS	-	-	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:57512916_57512917insT	uc003pdx.2	+	16	1839	c.1752_splice	c.e16+1			NM_000947	NP_000938	P49643	PRI2_HUMAN	DNA primase polypeptide 2						DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding				0				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		ttttttttcaattttttttgta	0		NaN											NaN	NaN	NaN	NaN	NaN	4	7	---		---	---
FAM126A	84668	broad.mit.edu	37	7	23004031	23004040	+	Splice_Site	DEL	TACAAGGCAA	TACAAGGCAA	-			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:23004031_23004040delTACAAGGCAA	uc003svm.3	-	8	998	c.743_splice	c.e8+1	p.F248_splice	FAM126A_uc003svn.3_Splice_Site_p.F104_splice	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A							cytoplasm|membrane	signal transducer activity			central_nervous_system(1)	1						ATGAGATACTTACAAGGCAAAATAAATCCC	0.3		NaN											NaN	NaN	NaN	NaN	NaN	32	34	---		---	---
GAL3ST4	79690	broad.mit.edu	37	7	99758558	99758560	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:99758558_99758560delTGT	uc003utt.2	-	3	1469_1471	c.452_454delACA	c.(451-456)GACAGC>GGC	p.151_152DS>G	C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_In_Frame_Del_p.151_152DS>G|GAL3ST4_uc010lgq.2_In_Frame_Del_p.89_90DS>G	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	151_152	Lumenal (Potential).				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(3)	3	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAAAAGAAGCTGTCAGAAGGCAT	0.512		NaN											NaN	NaN	NaN	NaN	NaN	37	64	---		---	---
