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
NOC2L	26155	broad.mit.edu	37	1	889451	889451	+	Missense_Mutation	SNP	G	G	A	rs150111944	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:889451G>A	uc001abz.3	-	7	769	c.710C>T	c.(709-711)CCG>CTG	p.P237L	NOC2L_uc001aby.3_Missense_Mutation_p.P34L|NOC2L_uc009vjq.2_Missense_Mutation_p.P237L	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog	237						nucleolus	protein binding			ovary(1)|skin(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GCTGCTGGACGGCTGCAGCAT	0.677												
CPSF3L	54973	broad.mit.edu	37	1	1250901	1250901	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:1250901G>A	uc001aee.1	-	5	585	c.527C>T	c.(526-528)ACG>ATG	p.T176M	CPSF3L_uc009vjy.1_RNA|CPSF3L_uc001aef.1_Missense_Mutation_p.T182M|CPSF3L_uc009vjz.1_Missense_Mutation_p.T154M|CPSF3L_uc010nyj.1_Missense_Mutation_p.T147M|CPSF3L_uc001aeg.1_Missense_Mutation_p.T52M|CPSF3L_uc001aeh.1_Missense_Mutation_p.T75M|CPSF3L_uc001aei.1_Missense_Mutation_p.T78M|CPSF3L_uc001aej.1_Intron|CPSF3L_uc001aek.1_Translation_Start_Site	NM_017871	NP_060341	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor	176						Golgi apparatus|nucleus	hydrolase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-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;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		TCCACTGACCGTGTAGACCAC	0.567												
TAS1R3	83756	broad.mit.edu	37	1	1269811	1269811	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:1269811C>T	uc010nyk.1	+	6	2526	c.2526C>T	c.(2524-2526)GAC>GAT	p.D842D		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3 precursor	842	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	GCCAGAATGACGGGAACACAG	0.612												
PLCH2	9651	broad.mit.edu	37	1	2411332	2411332	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:2411332G>A	uc001aji.1	+	3	705	c.431G>A	c.(430-432)CGC>CAC	p.R144H	PLCH2_uc010nyz.1_5'Flank|PLCH2_uc009vle.1_5'Flank|PLCH2_uc001ajj.1_5'Flank|PLCH2_uc001ajk.1_5'Flank	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	144	PH.|Necessary for plasma membrane localization (By similarity).				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GAGGTGGCGCGCACCTGGGTC	0.667												
PRDM16	63976	broad.mit.edu	37	1	3347517	3347517	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:3347517C>T	uc001akf.2	+	15	3446	c.3366C>T	c.(3364-3366)GAC>GAT	p.D1122D	PRDM16_uc001akc.2_Silent_p.D1121D|PRDM16_uc001akd.2_Silent_p.D1121D|PRDM16_uc001ake.2_Silent_p.D1122D|PRDM16_uc009vlh.2_Silent_p.D822D	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	1122	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		aggaggaggacgacgatgacc	0.468			T	EVI1	MDS|AML							
CHD5	26038	broad.mit.edu	37	1	6215763	6215763	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:6215763C>T	uc001amb.1	-	4	502	c.402G>A	c.(400-402)TCG>TCA	p.S134S		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	134					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGAGCTGCCCCGAGGACTTGG	0.612												
DNAJC11	55735	broad.mit.edu	37	1	6698426	6698426	+	Splice_Site	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:6698426T>C	uc001aof.2	-	12	1360	c.1254_splice	c.e12-1	p.K418_splice	DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Splice_Site_p.K366_splice|DNAJC11_uc010nzu.1_Splice_Site_p.K328_splice	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11						protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAATTCCCTTACGCGAGAG	0.632												
CAMTA1	23261	broad.mit.edu	37	1	7797375	7797375	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:7797375C>T	uc001aoi.2	+	15	3610	c.3403C>T	c.(3403-3405)CGG>TGG	p.R1135W	CAMTA1_uc010nzv.1_Missense_Mutation_p.R222W|CAMTA1_uc001aok.3_Missense_Mutation_p.R178W|CAMTA1_uc001aoj.2_Missense_Mutation_p.R91W	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GTGGGACCGTCGGGCCATCTC	0.567												
PIK3CD	5293	broad.mit.edu	37	1	9778917	9778917	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:9778917G>A	uc001aqb.3	+	9	1394	c.1186G>A	c.(1186-1188)GCC>ACC	p.A396T	PIK3CD_uc010oaf.1_Missense_Mutation_p.A396T|PIK3CD_uc001aqe.3_Missense_Mutation_p.A361T	NM_005026	NP_005017	O00329	PK3CD_HUMAN	catalytic phosphatidylinositol 3-kinase delta	396					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(4)|skin(2)|central_nervous_system(1)	7	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		TGCGCTGTACGCCGTGATCGA	0.647												
MTOR	2475	broad.mit.edu	37	1	11300580	11300580	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:11300580G>A	uc001asd.2	-	11	1687	c.1566C>T	c.(1564-1566)TAC>TAT	p.Y522Y		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	522					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						GGCTCAGGTCGTAGAGCACTG	0.522												
TNFRSF1B	7133	broad.mit.edu	37	1	12251952	12251952	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:12251952C>T	uc001att.2	+	4	518	c.429C>T	c.(427-429)TGC>TGT	p.C143C	TNFRSF1B_uc001atu.2_5'UTR|TNFRSF1B_uc009vnk.2_RNA	NM_001066	NP_001057	P20333	TNR1B_HUMAN	tumor necrosis factor receptor 2 precursor	143	TNFR-Cys 3.|Extracellular (Potential).				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			liver(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	TGCGCAAGTGCCGCCCGGGCT	0.687												
TNFRSF1B	7133	broad.mit.edu	37	1	12262065	12262065	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:12262065C>T	uc001att.2	+	9	1031	c.942C>T	c.(940-942)CCC>CCT	p.P314P	TNFRSF1B_uc001atu.2_Silent_p.P119P|TNFRSF1B_uc009vnk.2_RNA	NM_001066	NP_001057	P20333	TNR1B_HUMAN	tumor necrosis factor receptor 2 precursor	314	Cytoplasmic (Potential).				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			liver(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	CACAGGGCCCCGAGCAGCAGC	0.667												
VPS13D	55187	broad.mit.edu	37	1	12416561	12416561	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:12416561T>C	uc001atv.2	+	49	10119	c.9978T>C	c.(9976-9978)GCT>GCC	p.A3326A	VPS13D_uc001atw.2_Silent_p.A3301A|VPS13D_uc001atx.2_Silent_p.A2513A	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	3325					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCTGCTATGCTGACAAAGAGC	0.473												
LOC649330	649330	broad.mit.edu	37	1	12907413	12907413	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:12907413C>A	uc009vno.2	-	1	825	c.730G>T	c.(730-732)GCA>TCA	p.A244S	HNRNPCL1_uc010obf.1_Missense_Mutation_p.A244S	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	244							nucleic acid binding|nucleotide binding				0						GAGTCTTCTGCACCCCCCTCA	0.488												
LOC649330	649330	broad.mit.edu	37	1	12907705	12907705	+	Missense_Mutation	SNP	T	T	G	rs2359482	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:12907705T>G	uc009vno.2	-	1	533	c.438A>C	c.(436-438)CAA>CAC	p.Q146H	HNRNPCL1_uc010obf.1_Missense_Mutation_p.Q146H	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	146							nucleic acid binding|nucleotide binding				0						CTGATAGACGTTGACGTTTCG	0.488												
LOC649330	649330	broad.mit.edu	37	1	12907787	12907787	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:12907787T>C	uc009vno.2	-	1	451	c.356A>G	c.(355-357)TAT>TGT	p.Y119C	HNRNPCL1_uc010obf.1_Missense_Mutation_p.Y119C	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	119							nucleic acid binding|nucleotide binding				0						TCCATCATAATAATCCCGTTG	0.507												
PRAMEF22	653606	broad.mit.edu	37	1	13036638	13036638	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:13036638G>A	uc009vnq.1	+	2	710	c.710G>A	c.(709-711)CGC>CAC	p.R237H	PRAMEF5_uc001aur.2_Intron	NM_001100631	NP_001094101	A3QJZ6	PRA22_HUMAN	PRAME family member 22	237											0						AGGAATCTTCGCAAACTCTTC	0.478												
SPEN	23013	broad.mit.edu	37	1	16256980	16256980	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:16256980A>G	uc001axk.1	+	11	4449	c.4245A>G	c.(4243-4245)CTA>CTG	p.L1415L	SPEN_uc010obp.1_Silent_p.L1374L	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1415	Potential.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAGACAAGCTACGTGAGCGAG	0.403												
CLCNKB	1188	broad.mit.edu	37	1	16380237	16380237	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:16380237G>A	uc001axw.3	+	16	1806	c.1726G>A	c.(1726-1728)GTG>ATG	p.V576M	FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.V576M|CLCNKB_uc001axy.3_Missense_Mutation_p.V407M	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1	576	CBS 1.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			skin(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCACAGACGTGGCCAAGTA	0.597												
C1orf89	79363	broad.mit.edu	37	1	16560163	16560163	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:16560163G>A	uc001ayd.2	-	2	631	c.209C>T	c.(208-210)GCG>GTG	p.A70V		NM_030907	NP_112169	Q9BU20	RSG1_HUMAN	hypothetical protein LOC79363	70	Small GTPase-like.				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding				0		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.2e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCACCAGCGCCGTCTTGCC	0.632												
UBR4	23352	broad.mit.edu	37	1	19443800	19443800	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:19443800C>G	uc001bbi.2	-	73	10742	c.10738G>C	c.(10738-10740)GAT>CAT	p.D3580H	UBR4_uc001bbj.1_5'UTR	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3580					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CGTTTCAGATCCCCGATTTTC	0.498												
UBR4	23352	broad.mit.edu	37	1	19473420	19473420	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:19473420C>A	uc001bbi.2	-	52	7708	c.7704G>T	c.(7702-7704)GAG>GAT	p.E2568D	UBR4_uc001bbk.1_Missense_Mutation_p.E222D	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2568					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCTGGAACACCTCAGGGTCCA	0.527												
TMCO4	255104	broad.mit.edu	37	1	20097887	20097887	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:20097887C>T	uc001bcn.2	-	5	510	c.268G>A	c.(268-270)GGC>AGC	p.G90S	TMCO4_uc001bcm.2_Missense_Mutation_p.G90S|TMCO4_uc001bco.1_Missense_Mutation_p.G90S|TMCO4_uc001bcp.1_Missense_Mutation_p.G90S|TMCO4_uc009vpn.1_Missense_Mutation_p.G90S|TMCO4_uc001bcq.1_Missense_Mutation_p.G90S	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	90						integral to membrane					0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CCTCCCAGGCCGCTCGCAAAA	0.537												
PINK1	65018	broad.mit.edu	37	1	20971112	20971112	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:20971112C>T	uc001bdm.2	+	4	1000	c.906C>T	c.(904-906)CGC>CGT	p.R302R		NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1 precursor	302	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)		TGCCCTCACGCCTCCACCCTG	0.637												
CNKSR1	10256	broad.mit.edu	37	1	26515141	26515141	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:26515141C>T	uc001bln.3	+	19	1722	c.1664C>T	c.(1663-1665)GCC>GTC	p.A555V	CNKSR1_uc001blm.3_Missense_Mutation_p.A548V|CNKSR1_uc009vsd.2_Missense_Mutation_p.A290V|CNKSR1_uc009vse.2_Missense_Mutation_p.A290V|CNKSR1_uc001blo.2_Missense_Mutation_p.A290V|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.1_5'Flank|CATSPER4_uc009vsf.2_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras	555					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			lung(1)|kidney(1)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCTGCAGCCACCCCCACA	0.652												
ZNF683	257101	broad.mit.edu	37	1	26691467	26691467	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:26691467G>A	uc001bmg.1	-	4	688	c.570C>T	c.(568-570)CAC>CAT	p.H190H	ZNF683_uc001bmh.1_Silent_p.H190H|ZNF683_uc009vsj.1_Silent_p.H190H	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	zinc finger protein 683	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GGTAGAAGGCGTGGAGGAGAA	0.612												
ARID1A	8289	broad.mit.edu	37	1	27099053	27099053	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:27099053G>T	uc001bmv.1	+	13	3842	c.3469G>T	c.(3469-3471)GGA>TGA	p.G1157*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.G1157*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.G1157*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.G774*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.G4*|ARID1A_uc009vsm.1_5'Flank|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1157					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)		CATGGCAGAAGGAGGAGACTT	0.557			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
ARID1A	8289	broad.mit.edu	37	1	27105617	27105617	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:27105617C>T	uc001bmv.1	+	20	5601	c.5228C>T	c.(5227-5229)ACG>ATG	p.T1743M	ARID1A_uc001bmu.1_Missense_Mutation_p.T1526M|ARID1A_uc001bmx.1_Missense_Mutation_p.T589M|ARID1A_uc009vsm.1_Missense_Mutation_p.T71M|ARID1A_uc009vsn.1_Translation_Start_Site	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1743					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)		GGACAGAGAACGCTACTGGAT	0.493			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
TMEM222	84065	broad.mit.edu	37	1	27660540	27660540	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:27660540C>T	uc001bnr.3	+	4	456	c.403C>T	c.(403-405)CGC>TGC	p.R135C	TMEM222_uc001bns.3_RNA|TMEM222_uc001bnt.3_RNA|TMEM222_uc001bnu.3_RNA	NM_032125	NP_115501	Q9H0R3	TM222_HUMAN	transmembrane protein 222	135	Cytoplasmic (Potential).					integral to membrane	protein binding				0						GTACAAGCACCGCATGGTAGG	0.672												
PPP1R8	5511	broad.mit.edu	37	1	28176655	28176655	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:28176655A>G	uc001bov.1	+	7	808	c.754A>G	c.(754-756)AGG>GGG	p.R252G	PPP1R8_uc001bow.1_Missense_Mutation_p.R110G|PPP1R8_uc001box.1_Missense_Mutation_p.R28G|PPP1R8_uc009vtc.1_RNA|PPP1R8_uc009vtd.1_RNA	NM_014110	NP_054829	Q12972	PP1R8_HUMAN	protein phosphatase 1 regulatory inhibitor	252					mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding				0		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		ATCAGGGAGCAGGCGCATGCA	0.607												
EPB41	2035	broad.mit.edu	37	1	29359759	29359759	+	Splice_Site	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:29359759T>C	uc001brm.1	+	8	1372	c.1365_splice	c.e8+2	p.E455_splice	EPB41_uc001brg.1_Splice_Site_p.E246_splice|EPB41_uc001brh.1_Splice_Site_p.E246_splice|EPB41_uc001bri.1_Splice_Site_p.E420_splice|EPB41_uc001brj.1_Splice_Site_p.E246_splice|EPB41_uc009vtk.1_Splice_Site_p.E420_splice|EPB41_uc001brk.2_Splice_Site_p.E455_splice|EPB41_uc001brl.1_Splice_Site_p.E455_splice|EPB41_uc009vtl.1_Splice_Site_p.E246_splice|EPB41_uc009vtm.1_Splice_Site_p.E88_splice	NM_203342	NP_976217	P11171	41_HUMAN	erythrocyte membrane protein band 4.1						blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			ovary(1)	1		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		CCTGGAGAGGTACAGAATTTA	0.378												
SFRS4	6429	broad.mit.edu	37	1	29485950	29485950	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:29485950G>C	uc001bro.2	-	3	672	c.299C>G	c.(298-300)ACT>AGT	p.T100S	SFRS4_uc010ofy.1_Missense_Mutation_p.T100S|SFRS4_uc009vtp.2_RNA	NM_005626	NP_005617	Q08170	SRSF4_HUMAN	splicing factor, arginine/serine-rich 4	100					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding				0		Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151)		Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138)		CTCTGTGCGAGTAGGAGGGCC	0.423												
COL16A1	1307	broad.mit.edu	37	1	32157657	32157657	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:32157657G>A	uc001btk.1	-	17	1571	c.1206C>T	c.(1204-1206)GGC>GGT	p.G402G	COL16A1_uc001btj.1_Silent_p.G231G|COL16A1_uc001btl.3_Silent_p.G402G	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	402	Triple-helical region 9 (COL9) with 3 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CGCCCTTCTCGCCTTTCTGGC	0.647												
SPOCD1	90853	broad.mit.edu	37	1	32263883	32263883	+	Silent	SNP	G	G	A	rs144387561	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:32263883G>A	uc001bts.1	-	9	2128	c.2070C>T	c.(2068-2070)TAC>TAT	p.Y690Y	SPOCD1_uc001btt.2_Translation_Start_Site|SPOCD1_uc001btu.2_Silent_p.Y690Y|SPOCD1_uc001btv.2_Silent_p.Y183Y|SPOCD1_uc001btw.1_Silent_p.Y34Y	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	690	TFIIS central.				transcription, DNA-dependent					ovary(5)|breast(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GCACCAGGTCGTAGGGGGTGA	0.622												
MARCKSL1	65108	broad.mit.edu	37	1	32801580	32801580	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:32801580C>T	uc001bvd.2	-	1	255	c.55G>A	c.(55-57)GCA>ACA	p.A19T		NM_023009	NP_075385	P49006	MRP_HUMAN	MARCKS-like 1	19						plasma membrane	calmodulin binding			ovary(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GAAGCGCCTGCTGCCTCCTCG	0.711												
C1orf94	84970	broad.mit.edu	37	1	34663085	34663085	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:34663085A>G	uc001bxs.3	+	2	409	c.10A>G	c.(10-12)ATC>GTC	p.I4V	C1orf94_uc001bxt.2_Missense_Mutation_p.I194V	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform b	4							protein binding				0		Myeloproliferative disorder(586;0.0393)				CATGCCCGTTATCAGCAGCAG	0.577												
NCDN	23154	broad.mit.edu	37	1	36031043	36031043	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:36031043G>A	uc001bza.2	+	8	2096	c.1969G>A	c.(1969-1971)GCT>ACT	p.A657T	NCDN_uc001bzb.2_Missense_Mutation_p.A657T|NCDN_uc001bzc.2_Missense_Mutation_p.A640T	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN	neurochondrin isoform 1	657					neuron projection development	cytosol|dendrite|neuronal cell body				large_intestine(2)|pancreas(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCTGGCCCCCGCTGCCCTGCG	0.677												
THRAP3	9967	broad.mit.edu	37	1	36748267	36748267	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:36748267C>T	uc001cae.3	+	3	327	c.103C>T	c.(103-105)CGA>TGA	p.R35*	THRAP3_uc001caf.3_Nonsense_Mutation_p.R35*|THRAP3_uc001cag.1_Nonsense_Mutation_p.R35*	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	35	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTCCCGAAGCCGATCTCTCTC	0.458			T	USP6	aneurysmal bone cysts							
THRAP3	9967	broad.mit.edu	37	1	36769580	36769580	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:36769580C>T	uc001cae.3	+	12	3054	c.2830C>T	c.(2830-2832)CGA>TGA	p.R944*	THRAP3_uc001caf.3_Nonsense_Mutation_p.R944*|C1orf113_uc010oia.1_5'Flank	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	944					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GACAGAGAACCGAGAAGAGAA	0.572			T	USP6	aneurysmal bone cysts							
EPHA10	284656	broad.mit.edu	37	1	38227422	38227422	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:38227422G>A	uc009vvi.2	-	3	591	c.505C>T	c.(505-507)CGC>TGC	p.R169C	EPHA10_uc001cbw.3_Missense_Mutation_p.R169C	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	169	Extracellular (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTCATCTTGCGCTCACCCAGG	0.687												
MTF1	4520	broad.mit.edu	37	1	38304325	38304325	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:38304325G>A	uc001cce.1	-	4	892	c.751C>T	c.(751-753)CGA>TGA	p.R251*	MTF1_uc009vvj.1_5'UTR	NM_005955	NP_005946	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	251	C2H2-type 4.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			ovary(1)|pancreas(1)	2	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTATGAGTTCGAATGTGCTTC	0.438												
UTP11L	51118	broad.mit.edu	37	1	38478539	38478539	+	Splice_Site	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:38478539T>C	uc001ccn.3	+	1	154	c.63_splice	c.e1+2	p.Q21_splice	UTP11L_uc009vvm.2_Splice_Site|UTP11L_uc010oil.1_Splice_Site	NM_016037	NP_057121	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar						induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGAAGCCAGGTAGGACCATAC	0.587												
ZNF684	127396	broad.mit.edu	37	1	41007384	41007384	+	Splice_Site	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:41007384T>C	uc001cft.1	+	4	489	c.238_splice	c.e4+2	p.E80_splice		NM_152373	NP_689586	Q5T5D7	ZN684_HUMAN	zinc finger protein 684						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			GCTCTCCAGGTGAGTGAGAGA	0.483												
ERMAP	114625	broad.mit.edu	37	1	43308594	43308594	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:43308594T>C	uc001cic.1	+	12	1389	c.1119T>C	c.(1117-1119)AAT>AAC	p.N373N	ERMAP_uc001cid.1_RNA|ERMAP_uc001cie.1_Silent_p.N373N|ERMAP_uc001cif.1_Silent_p.N283N	NM_001017922	NP_001017922	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein	373	Cytoplasmic (Potential).|B30.2/SPRY.		Missing (in Sc-3 allele).			integral to membrane|plasma membrane				ovary(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTTTCTACAATGTGACCAACA	0.493												
ZNF691	51058	broad.mit.edu	37	1	43317175	43317175	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:43317175G>A	uc001cih.2	+	2	678	c.627G>A	c.(625-627)ACG>ACA	p.T209T	ZNF691_uc001cig.2_Silent_p.T182T|ZNF691_uc009vwm.2_Silent_p.T202T	NM_015911	NP_056995	Q5VV52	ZN691_HUMAN	zinc finger protein 691	213	C2H2-type 4.					nucleus	DNA binding|zinc ion binding			ovary(2)	2	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGAGTGCCACGCTAGCTGTGC	0.602												
TMEM125	128218	broad.mit.edu	37	1	43738845	43738845	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:43738845G>A	uc001cir.2	+	4	1022	c.452G>A	c.(451-453)GGC>GAC	p.G151D	EBNA1BP2_uc001cio.2_5'Flank|TMEM125_uc001cis.2_Missense_Mutation_p.G151D	NM_144626	NP_653227	Q96AQ2	TM125_HUMAN	transmembrane protein 125	151	Helical; (Potential).					integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGTCTGTGGGCATTGCTCTG	0.687												
DPH2	1802	broad.mit.edu	37	1	44438134	44438134	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:44438134G>T	uc001ckz.2	+	6	1588	c.1393G>T	c.(1393-1395)GGT>TGT	p.G465C	DPH2_uc001cla.2_Missense_Mutation_p.G237C|DPH2_uc010okk.1_Missense_Mutation_p.G330C|DPH2_uc001clb.2_Missense_Mutation_p.G389C|ATP6V0B_uc001clc.2_5'Flank|ATP6V0B_uc001cld.2_5'Flank|ATP6V0B_uc001cle.2_5'Flank|ATP6V0B_uc001clf.2_5'Flank	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN	diphthamide biosynthesis protein 2 isoform a	465					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GCCCCGCCTGGGTCAGACGCC	0.587												
TMEM53	79639	broad.mit.edu	37	1	45120336	45120336	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:45120336A>G	uc001cmc.2	-	3	765	c.729T>C	c.(727-729)CGT>CGC	p.R243R	TMEM53_uc001cmb.1_Intron|TMEM53_uc001cmd.2_Silent_p.R170R|TMEM53_uc009vxh.1_Silent_p.R126R|TMEM53_uc010ola.1_Silent_p.R126R	NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	243						integral to membrane				ovary(2)	2	Acute lymphoblastic leukemia(166;0.155)					AATCCACAGAACGCGCCAGGA	0.597												
TCTEX1D4	343521	broad.mit.edu	37	1	45271717	45271717	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:45271717C>T	uc001cmp.2	-	2	1133	c.624G>A	c.(622-624)TCG>TCA	p.S208S	BTBD19_uc010old.1_5'Flank|BTBD19_uc010ole.1_5'Flank	NM_001013632	NP_001013654	Q5JR98	TC1D4_HUMAN	Tctex1 domain containing 4	208										pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					CCGCGAAGAGCGAGGTGTTGG	0.662												
KIAA0494	9813	broad.mit.edu	37	1	47144226	47144226	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:47144226A>G	uc001cqk.3	-	11	2372	c.1395T>C	c.(1393-1395)TCT>TCC	p.S465S	KIAA0494_uc010omh.1_Intron|KIAA0494_uc010omj.1_Silent_p.S257S	NM_014774	NP_055589	O75071	K0494_HUMAN	hypothetical protein LOC9813	465	EF-hand 2.						calcium ion binding				0	Acute lymphoblastic leukemia(166;0.155)					CTGGCATAGCAGAACCTAGGG	0.468												
TXNDC12	51060	broad.mit.edu	37	1	52492989	52492989	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:52492989T>A	uc001cti.2	-	4	522	c.243A>T	c.(241-243)GAA>GAT	p.E81D		NM_015913	NP_056997	O95831	AIFM1_HUMAN	thioredoxin domain containing 12 precursor	329	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			ovary(1)	1						GTTCTGAAATTTCCGTAGATT	0.328												
ORC1L	4998	broad.mit.edu	37	1	52840492	52840492	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:52840492G>A	uc001ctt.2	-	16	2600	c.2381C>T	c.(2380-2382)ACG>ATG	p.T794M	ORC1L_uc010oni.1_Missense_Mutation_p.T789M|ORC1L_uc001ctu.2_Missense_Mutation_p.T794M|ORC1L_uc009vzd.2_Missense_Mutation_p.T548M	NM_004153	NP_004144	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	794	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding				0						CTGTTGAAACGTGGCTTCCTC	0.438												
FAM159A	348378	broad.mit.edu	37	1	53108573	53108573	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:53108573T>C	uc001cuf.2	+	2	321	c.221T>C	c.(220-222)GTT>GCT	p.V74A	FAM159A_uc001cug.1_RNA|FAM159A_uc001cuh.2_RNA	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN	hypothetical protein LOC348378	74	Helical; (Potential).					integral to membrane					0						GCAGCAGTGGTTCTTCTCGCC	0.532												
INADL	10207	broad.mit.edu	37	1	62516732	62516732	+	Splice_Site	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:62516732T>C	uc001dab.2	+	31	4239	c.4125_splice	c.e31+2	p.L1375_splice	INADL_uc009waf.1_Splice_Site_p.L1375_splice|INADL_uc001daa.2_Splice_Site_p.L1375_splice|INADL_uc001dad.3_Splice_Site_p.L1072_splice|INADL_uc001dac.2_Splice_Site|INADL_uc010oot.1_Splice_Site_p.L159_splice|INADL_uc009wag.2_Splice_Site_p.L159_splice|INADL_uc010oou.1_Splice_Site_p.L48_splice	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like						intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						TTCAAACTGGTGAGAATCTTG	0.408												
KANK4	163782	broad.mit.edu	37	1	62740559	62740559	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:62740559A>C	uc001dah.3	-	3	594	c.217T>G	c.(217-219)TTC>GTC	p.F73V	KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	73										ovary(3)|skin(2)|lung(1)	6						GGAAGGCTGAAGTTTCGGGGC	0.562												
LEPROT	54741	broad.mit.edu	37	1	65895571	65895571	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:65895571T>C	uc001dcf.2	+	3	208	c.119T>C	c.(118-120)ATT>ACT	p.I40T	LEPR_uc001dcg.2_Intron|LEPR_uc001dch.2_Intron|LEPR_uc001dci.2_Intron|LEPR_uc009waq.2_Intron|LEPROT_uc009wap.2_Missense_Mutation_p.I49T	NM_017526	NP_059996	O15243	OBRG_HUMAN	leptin receptor gene-related protein	40	Helical; (Potential).					endosome membrane|Golgi membrane|integral to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TTCGTCCTGATTTTCCACGCC	0.433												
IL23R	149233	broad.mit.edu	37	1	67666492	67666492	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:67666492T>C	uc001ddo.2	+	5	649	c.564T>C	c.(562-564)GGT>GGC	p.G188G	IL23R_uc009waz.2_5'UTR|IL23R_uc001ddp.2_RNA|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_Intron|IL23R_uc010opk.1_Silent_p.G145G|IL23R_uc010opl.1_Intron|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Intron|IL23R_uc010opn.1_Silent_p.G33G|IL23R_uc001ddr.2_RNA|IL23R_uc010opo.1_Silent_p.G47G|IL23R_uc010opp.1_RNA|IL23R_uc010opq.1_Silent_p.G47G|IL23R_uc010opr.1_RNA|IL23R_uc010ops.1_5'UTR|IL23R_uc010opt.1_5'UTR|IL23R_uc010opu.1_5'UTR|IL23R_uc010opv.1_Silent_p.G47G|IL23R_uc010opw.1_Intron|IL23R_uc010opx.1_Intron|IL23R_uc010opy.1_5'UTR|IL23R_uc010opz.1_Intron|IL23R_uc010oqa.1_5'UTR|IL23R_uc010oqb.1_Silent_p.G47G|IL23R_uc010oqc.1_Intron|IL23R_uc010oqd.1_Intron|IL23R_uc010oqe.1_5'UTR|IL23R_uc010oqf.1_5'UTR|IL23R_uc010oqg.1_5'UTR|IL23R_uc010oqh.1_Intron	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor precursor	188	Extracellular (Potential).|Fibronectin type-III 1.				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity				0						CATTACAAGGTGGCAAGAAGT	0.373												
NEGR1	257194	broad.mit.edu	37	1	72748049	72748049	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:72748049C>T	uc001dfw.2	-	1	229	c.129G>A	c.(127-129)GCG>GCA	p.A43A	NEGR1_uc010oqs.1_Silent_p.A43A	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1 precursor	43	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane				ovary(1)	1		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TGTCCACGGCCGCCCAGGGGA	0.592												
LHX8	431707	broad.mit.edu	37	1	75602834	75602834	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:75602834C>T	uc001dgo.2	+	4	819	c.155C>T	c.(154-156)CCG>CTG	p.P52L	LHX8_uc001dgq.2_5'UTR	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	LIM homeobox 8	52						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						TCCTCGGCCCCGCTGTCCCCG	0.697												
ACADM	34	broad.mit.edu	37	1	76194107	76194107	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:76194107T>C	uc001dgw.3	+	2	482	c.52T>C	c.(52-54)TTT>CTT	p.F18L	ACADM_uc010orc.1_Missense_Mutation_p.F18L|ACADM_uc010ord.1_5'UTR|ACADM_uc009wbp.2_Missense_Mutation_p.F22L|ACADM_uc009wbr.2_Missense_Mutation_p.F18L|ACADM_uc010ore.1_Intron|ACADM_uc010orf.1_Intron|ACADM_uc001dgx.3_5'UTR	NM_000016	NP_000007	P11310	ACADM_HUMAN	medium-chain acyl-CoA dehydrogenase isoform a	18					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(2)|ovary(1)|skin(1)	4						TATTTCTCGTTTTCATTGGAG	0.313												
ZZZ3	26009	broad.mit.edu	37	1	78097900	78097900	+	Silent	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:78097900G>T	uc001dhq.2	-	5	1616	c.1140C>A	c.(1138-1140)ACC>ACA	p.T380T	ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Silent_p.T380T|ZZZ3_uc001dhp.2_Silent_p.T380T	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5						TTCGTGGTGAGGTTCTCAGAG	0.443												
IFI44	10561	broad.mit.edu	37	1	79121150	79121150	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:79121150A>C	uc001dip.3	+	5	918	c.794A>C	c.(793-795)GAT>GCT	p.D265A	IFI44_uc010orr.1_Missense_Mutation_p.D265A|IFI44_uc010ors.1_5'UTR	NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN	interferon-induced, hepatitis C-associated	265					response to virus	cytoplasm				ovary(1)|central_nervous_system(1)	2						CTGTGCAGGGATGACATATTC	0.383												
SPATA1	64173	broad.mit.edu	37	1	85014616	85014616	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:85014616C>T	uc001djz.1	+	11	1359	c.1160C>T	c.(1159-1161)CCA>CTA	p.P387L	SPATA1_uc001djy.1_RNA	NM_001081472	NP_001074941			spermatogenesis associated 1											central_nervous_system(1)	1				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		AAGATGAGACCAAAGAATCTG	0.393												
CTBS	1486	broad.mit.edu	37	1	85036346	85036346	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:85036346T>C	uc001dka.2	-	2	300	c.235A>G	c.(235-237)ACA>GCA	p.T79A	CTBS_uc001dkc.2_5'UTR|CTBS_uc001dkd.2_5'UTR|CTBS_uc001dkb.2_5'UTR	NM_004388	NP_004379	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl- precursor	79						lysosome	cation binding				0				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		GCCACAGTTGTAATCTGTGAC	0.373												
MCOLN3	55283	broad.mit.edu	37	1	85506730	85506730	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:85506730C>T	uc001dkp.2	-	3	452	c.359G>A	c.(358-360)AGT>AAT	p.S120N	MCOLN3_uc001dkq.2_Intron|MCOLN3_uc001dkr.2_Missense_Mutation_p.S120N|MCOLN3_uc001dks.3_Translation_Start_Site	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	mucolipin 3	120						integral to membrane	ion channel activity			skin(1)	1				all cancers(265;0.00957)|Epithelial(280;0.0254)		ATACACGTCACTTTGTGTGTA	0.383												
SYDE2	84144	broad.mit.edu	37	1	85666191	85666191	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:85666191C>T	uc009wcm.2	-	1	538	c.489G>A	c.(487-489)GGG>GGA	p.G163G	SYDE2_uc001dku.3_Silent_p.G163G	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2	163					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|central_nervous_system(1)	2				all cancers(265;0.0126)|Epithelial(280;0.0336)		TCACAGAGGACCCCGCTGGAT	0.667												
CLCA1	1179	broad.mit.edu	37	1	86965639	86965639	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:86965639A>G	uc001dlt.2	+	14	2785	c.2656A>G	c.(2656-2658)AAT>GAT	p.N886D		NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	chloride channel accessory 1 precursor	886					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			ovary(1)	1		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TCCTTGTCCTAATATTCATAT	0.413												
CLCA4	22802	broad.mit.edu	37	1	87031502	87031502	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:87031502C>T	uc009wcs.2	+	6	797	c.753C>T	c.(751-753)AAC>AAT	p.N251N	CLCA4_uc009wct.2_Silent_p.N14N|CLCA4_uc009wcu.2_Silent_p.N71N	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	251						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.N251N(1)		ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AATTTTGTAACGAAAAAACCC	0.269												
GBP3	2635	broad.mit.edu	37	1	89479066	89479066	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:89479066T>C	uc001dmt.2	-	6	875	c.670A>G	c.(670-672)ATC>GTC	p.I224V	GBP3_uc010oss.1_Missense_Mutation_p.I145V|GBP3_uc001dmu.2_Missense_Mutation_p.I90V|GBP3_uc001dmv.2_RNA	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	224						integral to membrane	GTP binding|GTPase activity			ovary(1)|pancreas(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		AACTTCCGGATACAGAGTCGG	0.358												
GBP3	2635	broad.mit.edu	37	1	89480280	89480280	+	Silent	SNP	G	G	A	rs148546933	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:89480280G>A	uc001dmt.2	-	4	583	c.378C>T	c.(376-378)CTC>CTT	p.L126L	GBP3_uc010oss.1_Silent_p.L47L|GBP3_uc001dmu.2_5'UTR|GBP3_uc001dmv.2_RNA	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	126	Helical; (Potential).					integral to membrane	GTP binding|GTPase activity			ovary(1)|pancreas(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TATTGTACACGAGAGTGCTGC	0.522												
LRRC8D	55144	broad.mit.edu	37	1	90400499	90400499	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:90400499A>G	uc001dnm.2	+	3	2297	c.1872A>G	c.(1870-1872)AAA>AAG	p.K624K	LRRC8D_uc001dnn.2_Silent_p.K624K	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member	624	LRR 5.					integral to membrane	protein binding			ovary(2)	2		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		ACGGCACTAAACTCTTGGTAC	0.428												
DPYD	1806	broad.mit.edu	37	1	98165040	98165040	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:98165040A>G	uc001drv.2	-	6	684	c.547T>C	c.(547-549)TCT>CCT	p.S183P	DPYD_uc010oub.1_RNA	NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	183					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TAGGCTTCAGACATTTTTTCT	0.423												
AGL	178	broad.mit.edu	37	1	100357205	100357205	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:100357205T>C	uc001dsi.1	+	23	3393	c.2993T>C	c.(2992-2994)ATC>ACC	p.I998T	AGL_uc001dsj.1_Missense_Mutation_p.I998T|AGL_uc001dsk.1_Missense_Mutation_p.I998T|AGL_uc001dsl.1_Missense_Mutation_p.I998T|AGL_uc001dsm.1_Missense_Mutation_p.I982T|AGL_uc001dsn.1_Missense_Mutation_p.I981T	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	998	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CTGAAGCAGATCCCACGTTAC	0.368												
VCAM1	7412	broad.mit.edu	37	1	101186043	101186043	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:101186043A>G	uc001dti.2	+	2	196	c.76A>G	c.(76-78)AAA>GAA	p.K26E	VCAM1_uc001dtj.2_Missense_Mutation_p.K26E|VCAM1_uc010ouj.1_Missense_Mutation_p.K26E	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	26	Ig-like C2-type 1.|Extracellular (Potential).				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(1)	1		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TCAAGCTTTTAAAATCGAGAC	0.403												
SARS	6301	broad.mit.edu	37	1	109778671	109778671	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:109778671G>A	uc001dwu.1	+	8	1117	c.1042G>A	c.(1042-1044)GCA>ACA	p.A348T	SARS_uc001dwt.1_Missense_Mutation_p.A348T|SARS_uc001dwv.1_Missense_Mutation_p.A348T|SARS_uc001dww.1_Missense_Mutation_p.A281T|SARS_uc001dwx.1_Missense_Mutation_p.A300T|SARS_uc009wfa.1_Missense_Mutation_p.A348T|SARS_uc001dwy.1_Missense_Mutation_p.A173T|SARS_uc001dwz.1_Missense_Mutation_p.A173T	NM_006513	NP_006504	P49591	SYSC_HUMAN	seryl-tRNA synthetase	348					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)	1		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	GATTACCACCGCAGAGGAGTT	0.493												
SORT1	6272	broad.mit.edu	37	1	109910092	109910092	+	Silent	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:109910092G>T	uc001dxm.1	-	3	427	c.378C>A	c.(376-378)GTC>GTA	p.V126V	SORT1_uc010ovi.1_5'UTR|SORT1_uc009wfb.2_5'UTR	NM_002959	NP_002950	Q99523	SORT_HUMAN	sortilin 1 preproprotein	126	Extracellular (Potential).				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			ovary(1)	1		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		AGGTAGTCAAGACTAGAATGA	0.383												
GSTM3	2947	broad.mit.edu	37	1	110280341	110280341	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:110280341T>C	uc001dyo.2	-	7	715	c.405A>G	c.(403-405)CTA>CTG	p.L135L	GSTM3_uc001dyp.2_Silent_p.L132L|GSTM3_uc010ovv.1_Silent_p.L135L	NM_000849	NP_000840	P21266	GSTM3_HUMAN	glutathione S-transferase mu 3	135	GST C-terminal.				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding				0		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	GTTGTCCAGGTAGCTCTTCCA	0.433												
KCNC4	3749	broad.mit.edu	37	1	110765914	110765914	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:110765914C>T	uc001dzh.2	+	2	1064	c.1007C>T	c.(1006-1008)TCC>TTC	p.S336F	KCNC4_uc001dzf.2_Missense_Mutation_p.S336F|KCNC4_uc009wfr.2_Missense_Mutation_p.S336F|KCNC4_uc001dzg.2_Missense_Mutation_p.S336F|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	336					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGCCTGTCATCCAAGGCGGCC	0.632												
KCNC4	3749	broad.mit.edu	37	1	110766270	110766270	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:110766270C>T	uc001dzh.2	+	2	1420	c.1363C>T	c.(1363-1365)CTG>TTG	p.L455L	KCNC4_uc001dzf.2_Silent_p.L455L|KCNC4_uc009wfr.2_Silent_p.L455L|KCNC4_uc001dzg.2_Silent_p.L455L|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	455	Helical; Name=Segment S6; (Potential).				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGTAGGGGCACTGTGTGCACT	0.592												
KCNA2	3737	broad.mit.edu	37	1	111147188	111147188	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:111147188G>A	uc001dzu.2	-	2	713	c.217C>T	c.(217-219)CGA>TGA	p.R73*	KCNA2_uc009wfv.1_Nonsense_Mutation_p.R73*|KCNA2_uc009wfw.2_Nonsense_Mutation_p.R73*	NM_004974	NP_004965	P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related	73						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(1)	1		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		TACTCATTTCGGAGGGGGTCA	0.522												
CHIA	27159	broad.mit.edu	37	1	111858017	111858017	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:111858017G>A	uc001eas.2	+	6	543	c.440G>A	c.(439-441)AGC>AAC	p.S147N	CHIA_uc001ear.2_Missense_Mutation_p.S39N|CHIA_uc001eaq.2_Missense_Mutation_p.S39N|CHIA_uc009wgc.2_Missense_Mutation_p.S39N|CHIA_uc001eat.2_Intron|CHIA_uc001eav.2_5'UTR|CHIA_uc001eau.2_Intron|CHIA_uc009wgd.2_Intron	NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN	acidic chitinase isoform c	147					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			ovary(1)	1		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		TCTCGTGGGAGCCCTCCTCAG	0.527												
WNT2B	7482	broad.mit.edu	37	1	113051996	113051996	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:113051996C>T	uc001ecb.2	+	1	627	c.112C>T	c.(112-114)CGC>TGC	p.R38C	WNT2B_uc001eca.2_Intron|WNT2B_uc009wgg.2_Intron	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family,	38					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			ovary(2)|breast(2)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCTTCGGCCCGCCTAGGTCT	0.736												
LRIG2	9860	broad.mit.edu	37	1	113653186	113653186	+	Splice_Site	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:113653186T>C	uc001edf.1	+	13	1996	c.1798_splice	c.e13+2	p.E600_splice	LRIG2_uc009wgn.1_Splice_Site_p.E497_splice	NM_014813	NP_055628	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like							cytoplasm|integral to membrane|plasma membrane				ovary(3)	3	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CTGTAAATGGTAAGGAATTAT	0.299												
PTPN22	26191	broad.mit.edu	37	1	114380688	114380688	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:114380688G>C	uc001eds.2	-	13	1464	c.1334C>G	c.(1333-1335)ACA>AGA	p.T445R	PTPN22_uc009wgq.2_Missense_Mutation_p.T390R|PTPN22_uc010owo.1_Missense_Mutation_p.T201R|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.T445R|PTPN22_uc009wgs.2_Missense_Mutation_p.T318R|PTPN22_uc001edu.2_Missense_Mutation_p.T445R	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type	445					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)		TTTGGTCCGTGTTATTGGCAC	0.378												
TRIM33	51592	broad.mit.edu	37	1	114952816	114952816	+	Silent	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:114952816C>A	uc001eew.2	-	12	2268	c.2184G>T	c.(2182-2184)CCG>CCT	p.P728P	TRIM33_uc010owr.1_Silent_p.P342P|TRIM33_uc010ows.1_Silent_p.P360P|TRIM33_uc001eex.2_Silent_p.P728P	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	728					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGATGATCCCGGAGAAAGGG	0.363			T	RET	papillary thyroid							
ATP1A1	476	broad.mit.edu	37	1	116946596	116946596	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:116946596C>T	uc001ege.2	+	22	3381	c.3042C>T	c.(3040-3042)GGC>GGT	p.G1014G	ATP1A1_uc010owv.1_Silent_p.G983G|ATP1A1_uc010oww.1_Silent_p.G1014G|ATP1A1_uc010owx.1_Silent_p.G983G|C1orf203_uc009whb.2_Intron|C1orf203_uc001egg.3_Intron|ATP1A1_uc001egh.2_Silent_p.G156G	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	1014	Cytoplasmic (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	GACGCCCTGGCGGTAATTATG	0.493												
PTGFRN	5738	broad.mit.edu	37	1	117484558	117484558	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:117484558G>A	uc001egv.1	+	2	408	c.271G>A	c.(271-273)GAG>AAG	p.E91K		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor negative regulator	91	Extracellular (Potential).|Ig-like C2-type 1.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			liver(1)	1	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GCAGAGGGGCGAGATCCTGTT	0.592												
GDAP2	54834	broad.mit.edu	37	1	118455209	118455209	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:118455209C>T	uc001ehf.2	-	4	712	c.413G>A	c.(412-414)CGC>CAC	p.R138H	GDAP2_uc001ehg.2_Missense_Mutation_p.R138H	NM_017686	NP_060156	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated	138	Macro.									ovary(2)	2		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		AGCTGCTGTGCGATAGCGGCT	0.428												
WARS2	10352	broad.mit.edu	37	1	119575812	119575812	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:119575812G>A	uc001ehn.2	-	6	833	c.805C>T	c.(805-807)CGC>TGC	p.R269C	WARS2_uc010oxf.1_Missense_Mutation_p.R175C|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Missense_Mutation_p.R212C|WARS2_uc010oxh.1_3'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	269					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	p.R269C(1)			0	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	ACGCCAGCGCGGCCAGCCGGG	0.632												
PDE4DIP	9659	broad.mit.edu	37	1	144918931	144918931	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:144918931G>A	uc001elw.3	-	10	1546	c.1255C>T	c.(1255-1257)CGT>TGT	p.R419C	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R485C|PDE4DIP_uc001emc.1_Missense_Mutation_p.R419C|PDE4DIP_uc001emd.1_Missense_Mutation_p.R419C|PDE4DIP_uc001emb.1_Missense_Mutation_p.R582C|PDE4DIP_uc001eme.1_5'UTR|PDE4DIP_uc001emf.1_Missense_Mutation_p.R206C	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	419	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCCAGGCACGAAGCTGTTGG	0.408			T	PDGFRB	MPD							
BCL9	607	broad.mit.edu	37	1	147084979	147084979	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:147084979C>T	uc001epq.2	+	5	1091	c.351C>T	c.(349-351)AAC>AAT	p.N117N	BCL9_uc010ozr.1_Intron	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	117					Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					GGACTCCAAACGATGACTCTG	0.507			T	IGH@|IGL@	B-ALL							
BCL9	607	broad.mit.edu	37	1	147086415	147086415	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:147086415A>G	uc001epq.2	+	6	1300	c.560A>G	c.(559-561)AAA>AGA	p.K187R	BCL9_uc010ozr.1_Missense_Mutation_p.K113R	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	187					Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					ATGGCCAATAAGTAAGTTGAT	0.468			T	IGH@|IGL@	B-ALL							
ZNF687	57592	broad.mit.edu	37	1	151263312	151263312	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:151263312A>G	uc001exq.2	+	9	3439	c.3341A>G	c.(3340-3342)TAC>TGC	p.Y1114C	ZNF687_uc009wmo.2_Missense_Mutation_p.Y1114C|ZNF687_uc009wmp.2_3'UTR	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	1114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCTCTGCGCTACCGGAGCAGC	0.632												
HRNR	388697	broad.mit.edu	37	1	152192330	152192330	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:152192330C>T	uc001ezt.1	-	3	1851	c.1775G>A	c.(1774-1776)GGA>GAA	p.G592E		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	592					keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGGACTGTCCTGAGCGAGA	0.567												
FLG	2312	broad.mit.edu	37	1	152283080	152283080	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:152283080G>A	uc001ezu.1	-	3	4318	c.4282C>T	c.(4282-4284)CGT>TGT	p.R1428C	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1428	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGGCCACGTGCGGACTCT	0.562									Ichthyosis			
FLG2	388698	broad.mit.edu	37	1	152328128	152328128	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:152328128T>C	uc001ezw.3	-	3	2207	c.2134A>G	c.(2134-2136)AGT>GGT	p.S712G	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	712	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGAACTTGACCCATGT	0.478												
FLG2	388698	broad.mit.edu	37	1	152329376	152329376	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:152329376T>G	uc001ezw.3	-	3	959	c.886A>C	c.(886-888)AGT>CGT	p.S296R	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	296	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACAAGAACTTGAAGCATTT	0.473												
LCE1E	353135	broad.mit.edu	37	1	152759779	152759779	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:152759779T>G	uc001fan.2	+	2	57	c.4T>G	c.(4-6)TCC>GCC	p.S2A		NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	2					keratinization						0	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCGAGATGTCCTGCCAGCA	0.488												
C1orf77	26097	broad.mit.edu	37	1	153617558	153617558	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:153617558G>A	uc001fcm.1	+	6	872	c.560G>A	c.(559-561)CGG>CAG	p.R187Q	C1orf77_uc001fcn.1_Missense_Mutation_p.R188Q|C1orf77_uc001fco.1_Missense_Mutation_p.R162Q|C1orf77_uc001fcp.2_RNA	NM_015607	NP_056422	Q9Y3Y2	CHTOP_HUMAN	small protein rich in arginine and glycine	187	Arg/Gly-rich.|Interaction with PRMT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	protein binding|RNA binding				0	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATGATAGGTCGGGGAAGAGGG	0.527												
DENND4B	9909	broad.mit.edu	37	1	153914361	153914361	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:153914361G>A	uc001fdd.1	-	6	1440	c.1039C>T	c.(1039-1041)CGC>TGC	p.R347C		NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	347	DENN.									ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAGGGTAGGCGGTGGGGGCCT	0.632												
CRTC2	200186	broad.mit.edu	37	1	153920984	153920984	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:153920984T>G	uc010ped.1	-	13	1881	c.1811A>C	c.(1810-1812)AAC>ACC	p.N604T	DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_Missense_Mutation_p.N140T	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	604					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)	2	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTGGGTCAAGTTCTGGTGGTT	0.577												
ADAR	103	broad.mit.edu	37	1	154562368	154562368	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:154562368C>T	uc001ffh.2	-	8	2733	c.2533G>A	c.(2533-2535)GCC>ACC	p.A845T	ADAR_uc001ffj.2_Missense_Mutation_p.A800T|ADAR_uc001ffi.2_Missense_Mutation_p.A819T|ADAR_uc001ffk.2_Missense_Mutation_p.A550T	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	845					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CTCAGCATGGCTATCTGGTCA	0.547												
ZBTB7B	51043	broad.mit.edu	37	1	154987252	154987252	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:154987252G>A	uc001fgk.3	+	3	274	c.116G>A	c.(115-117)CGG>CAG	p.R39Q	ZBTB7B_uc009wpa.2_Missense_Mutation_p.R39Q|ZBTB7B_uc001fgj.3_Missense_Mutation_p.R73Q|ZBTB7B_uc010peq.1_Missense_Mutation_p.R73Q|ZBTB7B_uc001fgl.3_Missense_Mutation_p.R39Q	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	39	BTB.				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding				0	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)			CTCACCATCCGGACGCAGGGC	0.592												
DCST2	127579	broad.mit.edu	37	1	154998843	154998843	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:154998843A>T	uc001fgm.2	-	10	1626	c.1546T>A	c.(1546-1548)TTT>ATT	p.F516I	DCST2_uc009wpb.2_RNA	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	516	Helical; (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)			TAGCTGCCAAACAGGGTGATG	0.647												
TRIM46	80128	broad.mit.edu	37	1	155152138	155152138	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:155152138G>A	uc001fhs.1	+	8	1399	c.1316G>A	c.(1315-1317)CGC>CAC	p.R439H	RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.R439H|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.R313H|TRIM46_uc001fhu.1_Missense_Mutation_p.R416H|TRIM46_uc009wpg.1_Missense_Mutation_p.R426H|TRIM46_uc001fhv.3_Missense_Mutation_p.R426H|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	439	Fibronectin type-III.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GACACCCAGCGCACCTTTGCC	0.637												
RUSC1	23623	broad.mit.edu	37	1	155300265	155300265	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:155300265T>C	uc001fkj.2	+	10	2841	c.2612T>C	c.(2611-2613)CTG>CCG	p.L871P	RAG1AP1_uc010pey.1_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.L765P|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_Missense_Mutation_p.L402P|RUSC1_uc001fkl.2_Missense_Mutation_p.L461P|RUSC1_uc001fkp.2_Missense_Mutation_p.L402P|RUSC1_uc001fkq.2_Missense_Mutation_p.L296P|RUSC1_uc010pgb.1_Missense_Mutation_p.L369P|RUSC1_uc009wqp.1_Missense_Mutation_p.L396P|RUSC1_uc001fkn.2_Missense_Mutation_p.L180P|RUSC1_uc001fko.2_RNA|RUSC1_uc001fkr.2_Missense_Mutation_p.L402P|RUSC1_uc001fks.2_Missense_Mutation_p.L138P	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	871	SH3.					cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GGGGAAGTGCTGCGTGTCATC	0.612												
DAP3	7818	broad.mit.edu	37	1	155707980	155707980	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:155707980T>C	uc001flq.2	+	13	1313	c.1144T>C	c.(1144-1146)TTC>CTC	p.F382L	DAP3_uc001flr.2_Missense_Mutation_p.F382L|DAP3_uc001fls.2_Missense_Mutation_p.F382L|DAP3_uc010pgl.1_Missense_Mutation_p.F341L|DAP3_uc001flt.2_Missense_Mutation_p.F348L|DAP3_uc001flu.2_Missense_Mutation_p.F355L|DAP3_uc010pgm.1_Missense_Mutation_p.F348L	NM_033657	NP_387506	P51398	RT29_HUMAN	death-associated protein 3	382					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			ovary(1)	1	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AGAGCTGCTGTTCCTAAGTAA	0.502												
KIAA0907	22889	broad.mit.edu	37	1	155896943	155896943	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:155896943G>A	uc001fmi.1	-	5	493	c.469C>T	c.(469-471)CGT>TGT	p.R157C	KIAA0907_uc001fmj.1_Missense_Mutation_p.R157C|KIAA0907_uc009wrk.1_Intron|KIAA0907_uc009wrl.1_RNA|KIAA0907_uc001fml.1_Missense_Mutation_p.R157C|KIAA0907_uc001fmm.2_Missense_Mutation_p.R157C|SCARNA4_uc001fmn.1_5'Flank|KIAA0907_uc001fmo.2_Missense_Mutation_p.R157C	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	hypothetical protein LOC22889	157											0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TATAATGGACGATCCCTATAA	0.378												
MEX3A	92312	broad.mit.edu	37	1	156046519	156046519	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:156046519A>G	uc001fnd.3	-	2	1409	c.1409T>C	c.(1408-1410)ATG>ACG	p.M470T		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	MEX3A protein	470	RING-type.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)					AAAGCAGACCATGCAATCCCG	0.677												
SMG5	23381	broad.mit.edu	37	1	156220714	156220714	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:156220714C>A	uc001foc.3	-	21	3051	c.2902G>T	c.(2902-2904)GGC>TGC	p.G968C	PAQR6_uc010phf.1_5'Flank|PAQR6_uc001fny.1_5'Flank|PAQR6_uc001fnv.1_5'Flank|PAQR6_uc010phg.1_5'Flank|PAQR6_uc001fnx.1_5'Flank|PAQR6_uc001fnw.1_5'Flank|PAQR6_uc001fnz.1_5'Flank|PAQR6_uc010phh.1_5'Flank|PAQR6_uc001foa.1_5'Flank|PAQR6_uc001fob.1_5'Flank|PAQR6_uc001fnu.1_5'Flank|SMG5_uc009wrv.2_Intron	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	968	PINc.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					GTCACCATGCCACTCGGATCC	0.602												
APOA1BP	128240	broad.mit.edu	37	1	156562003	156562003	+	Splice_Site	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:156562003T>G	uc001fph.2	+	2	330	c.291_splice	c.e2+2	p.K97_splice	APOA1BP_uc001fpg.2_Splice_Site_p.K97_splice|APOA1BP_uc001fpi.2_Splice_Site_p.K97_splice|APOA1BP_uc001fpj.2_Splice_Site_p.K14_splice|APOA1BP_uc001fpk.2_5'UTR|APOA1BP_uc010php.1_5'UTR	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein precursor							extracellular region	protein binding			central_nervous_system(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATCGCCAAGGTCAGTGGCACA	0.602												
FCER1A	2205	broad.mit.edu	37	1	159277558	159277558	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:159277558C>T	uc001ftq.2	+	6	709	c.610C>T	c.(610-612)CTA>TTA	p.L204L		NM_002001	NP_001992	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor	204	Extracellular (Potential).					integral to plasma membrane				lung(2)|skin(2)|prostate(1)	5	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GAAGTACTGGCTACAATTTTT	0.408												
PIGM	93183	broad.mit.edu	37	1	160000905	160000905	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:160000905A>G	uc001fuv.1	-	1	879	c.625T>C	c.(625-627)TAC>CAC	p.Y209H		NM_145167	NP_660150	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	209	Cytoplasmic (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGAAAGTGTACCGGAATTGA	0.498												
KCNJ10	3766	broad.mit.edu	37	1	160012141	160012141	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:160012141T>C	uc001fuw.1	-	2	332	c.182A>G	c.(181-183)GAC>GGC	p.D61G		NM_002241	NP_002232	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily	61	Cytoplasmic (By similarity).					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCACTGCATGTCAATGAAGGT	0.542												
ATP1A2	477	broad.mit.edu	37	1	160098475	160098475	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:160098475C>T	uc001fvc.2	+	9	1183	c.1051C>T	c.(1051-1053)CGG>TGG	p.R351W	ATP1A2_uc001fvb.2_Missense_Mutation_p.R351W|ATP1A2_uc010piz.1_Missense_Mutation_p.R196W|ATP1A2_uc001fvd.2_Missense_Mutation_p.R87W|ATP1A2_uc009wtg.1_Missense_Mutation_p.R39W	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	351	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)			GCGCATGGCACGGAAGAACTG	0.572												
NCSTN	23385	broad.mit.edu	37	1	160326990	160326990	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:160326990C>T	uc001fvx.2	+	16	2078	c.1954C>T	c.(1954-1956)CGC>TGC	p.R652C	NCSTN_uc001fvy.2_Missense_Mutation_p.R632C|NCSTN_uc010pjf.1_Missense_Mutation_p.R514C|NCSTN_uc001fvz.2_Missense_Mutation_p.R432C|NCSTN_uc010pjg.1_Missense_Mutation_p.R394C	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	652	Extracellular (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GACTGAGAGCCGCTGGAAAGA	0.532												
FAM78B	149297	broad.mit.edu	37	1	166039840	166039840	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:166039840A>C	uc001gdr.2	-	3	1014	c.424T>G	c.(424-426)TTC>GTC	p.F142V	FAM78B_uc010plc.1_RNA|FAM78B_uc001gdq.2_5'Flank	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN	hypothetical protein LOC149297	142										central_nervous_system(1)|skin(1)	2	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					CTGGGGTAGAAGTTGTCATTC	0.542												
DUSP27	92235	broad.mit.edu	37	1	167095702	167095702	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:167095702G>A	uc001geb.1	+	5	1334	c.1334G>A	c.(1333-1335)AGC>AAC	p.S445N		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	445					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						AGCGTGAGCAGCCACGACATC	0.612												
CD247	919	broad.mit.edu	37	1	167408619	167408619	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:167408619C>T	uc001gei.3	-	3	326	c.181G>A	c.(181-183)GCC>ACC	p.A61T	CD247_uc001gej.3_Missense_Mutation_p.A61T|CD247_uc001gek.2_Missense_Mutation_p.A61T	NM_198053	NP_932170	P20963	CD3Z_HUMAN	T-cell receptor zeta chain isoform 1 precursor	61	Cytoplasmic (Potential).|ITAM 1.			DA -> EP (in Ref. 1; AAA60394).	interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity				0			LUSC - Lung squamous cell carcinoma(543;0.236)			TACGCGGGGGCGTCTGCGCTC	0.672												
FMO3	2328	broad.mit.edu	37	1	171086310	171086310	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:171086310G>A	uc001ghi.2	+	9	1438	c.1327G>A	c.(1327-1329)GCA>ACA	p.A443T	FMO3_uc001ghh.2_Missense_Mutation_p.A443T|FMO3_uc010pmb.1_Missense_Mutation_p.A423T|FMO3_uc010pmc.1_Missense_Mutation_p.A380T	NM_001002294	NP_001002294	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	443					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTCATTGGGGCAAAGCCCAA	0.483												
QSOX1	5768	broad.mit.edu	37	1	180153144	180153144	+	Silent	SNP	T	T	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:180153144T>A	uc001gnz.2	+	7	921	c.846T>A	c.(844-846)ACT>ACA	p.T282T	QSOX1_uc001gny.2_Silent_p.T282T|QSOX1_uc001goa.2_Silent_p.T282T	NM_002826	NP_002817	O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1 isoform a	282					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			ovary(1)|central_nervous_system(1)	2						CACCAACCACTGCTAACAAGA	0.537												
NCF2	4688	broad.mit.edu	37	1	183534900	183534900	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:183534900C>T	uc001gqj.3	-	10	1214	c.939G>A	c.(937-939)CCG>CCA	p.P313P	NCF2_uc010pod.1_Silent_p.P268P|NCF2_uc010poe.1_Silent_p.P232P|NCF2_uc001gqk.3_Silent_p.P313P	NM_000433	NP_000424	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	313					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			ovary(3)	3						TGTCGGACTGCGGAGAGCTTT	0.597												
APOBEC4	403314	broad.mit.edu	37	1	183616870	183616870	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:183616870T>C	uc001gqn.2	-	2	1319	c.1047A>G	c.(1045-1047)GAA>GAG	p.E349E	RGL1_uc010pof.1_Intron|RGL1_uc001gqm.2_Intron|RGL1_uc010pog.1_Intron|RGL1_uc010poh.1_Intron	NM_203454	NP_982279	Q8WW27	ABEC4_HUMAN	apolipoprotein B	349					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding				0						TTGCAAACTGTTCTGTGATTT	0.418												
HMCN1	83872	broad.mit.edu	37	1	185931759	185931759	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:185931759C>T	uc001grq.1	+	12	2167	c.1938C>T	c.(1936-1938)ACC>ACT	p.T646T	HMCN1_uc001grr.1_5'UTR	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	646	Ig-like C2-type 3.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TTGCCTGGACCGTTAACGATA	0.423												
HMCN1	83872	broad.mit.edu	37	1	186147727	186147727	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:186147727T>C	uc001grq.1	+	104	16352	c.16123T>C	c.(16123-16125)TTC>CTC	p.F5375L	HMCN1_uc001grs.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5375					response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CCTTGCACGGTTCTCCCCTGT	0.453												
HMCN1	83872	broad.mit.edu	37	1	186158785	186158785	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:186158785A>G	uc001grq.1	+	107	16912	c.16683A>G	c.(16681-16683)GGA>GGG	p.G5561G	HMCN1_uc001grs.1_Silent_p.G1013G	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5561					response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CACAGGATGGAGTGATGCATC	0.468												
CDC73	79577	broad.mit.edu	37	1	193181570	193181570	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:193181570A>G	uc001gtb.2	+	13	1360	c.1117A>G	c.(1117-1119)ACC>GCC	p.T373A		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	parafibromin	373					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49						CTCTTTAATAACCATGCTTAA	0.313									Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome			
ZBTB41	360023	broad.mit.edu	37	1	197128613	197128613	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:197128613A>G	uc001gtx.1	-	10	2675	c.2606T>C	c.(2605-2607)ATA>ACA	p.I869T	ZBTB41_uc009wyz.1_RNA	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	869					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						TGGGTGAACTATATTTGCAGG	0.408												
CRB1	23418	broad.mit.edu	37	1	197390150	197390150	+	Missense_Mutation	SNP	G	G	A	rs144011428		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:197390150G>A	uc001gtz.2	+	6	1327	c.1192G>A	c.(1192-1194)GTC>ATC	p.V398I	CRB1_uc010poz.1_Missense_Mutation_p.V329I|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.V286I|CRB1_uc010ppb.1_Missense_Mutation_p.V398I|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.V47I	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	398	Extracellular (Potential).|EGF-like 10; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						CGAAGAAGACGTCAATGAATG	0.338												
KIF21B	23046	broad.mit.edu	37	1	200946499	200946499	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:200946499G>A	uc001gvs.1	-	31	4483	c.4166C>T	c.(4165-4167)TCG>TTG	p.S1389L	KIF21B_uc001gvr.1_Missense_Mutation_p.S1376L|KIF21B_uc009wzl.1_Missense_Mutation_p.S1389L|KIF21B_uc010ppn.1_Missense_Mutation_p.S1376L	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	1389					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						CACCTGGCCCGAGGACCTGCC	0.527												
PKP1	5317	broad.mit.edu	37	1	201282591	201282591	+	Missense_Mutation	SNP	C	C	T	rs144063217		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:201282591C>T	uc001gwd.2	+	3	855	c.604C>T	c.(604-606)CGC>TGC	p.R202C	PKP1_uc001gwe.2_Missense_Mutation_p.R202C|PKP1_uc009wzm.2_Intron	NM_000299	NP_000290	Q13835	PKP1_HUMAN	plakophilin 1 isoform 1b	202					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			ovary(2)	2						GTGCCCTGTGCGCCCGCCCTC	0.597												
NAV1	89796	broad.mit.edu	37	1	201781716	201781716	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:201781716C>T	uc001gwu.2	+	26	5486	c.5139C>T	c.(5137-5139)CTC>CTT	p.L1713L	NAV1_uc001gwx.2_Silent_p.L1322L	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1716					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						TTCGGGTGCTCGACTGGGTAC	0.572												
RNPEP	6051	broad.mit.edu	37	1	201958135	201958135	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:201958135C>T	uc001gxd.2	+	2	580	c.551C>T	c.(550-552)ACG>ATG	p.T184M	RNPEP_uc001gxe.2_Translation_Start_Site|RNPEP_uc001gxf.2_Missense_Mutation_p.T53M	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase	184					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			upper_aerodigestive_tract(1)	1				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TGCTTCGACACGCCTGCTGTT	0.502												
MYOG	4656	broad.mit.edu	37	1	203054894	203054894	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:203054894G>A	uc001gzd.2	-	1	484	c.196C>T	c.(196-198)CTG>TTG	p.L66L		NM_002479	NP_002470	P15173	MYOG_HUMAN	myogenin	66					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			skin(2)	2						GCCCACGGCAGGCACTGGCCT	0.677												
SNRPE	6635	broad.mit.edu	37	1	203830822	203830822	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:203830822A>C	uc001hai.2	+	1	83	c.35A>C	c.(34-36)AAG>ACG	p.K12T	SNRPE_uc010pqn.1_RNA	NM_003094	NP_003085	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	12					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding				0	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AAAGTGCAGAAGGTTATGGTG	0.582												
DSTYK	25778	broad.mit.edu	37	1	205119814	205119814	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:205119814A>G	uc001hbw.2	-	11	2525	c.2461T>C	c.(2461-2463)TTC>CTC	p.F821L	DSTYK_uc001hbx.2_Missense_Mutation_p.F821L	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1	821	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1						TTACCTGTGAAAAGTTCAGGG	0.542												
CTSE	1510	broad.mit.edu	37	1	206328829	206328829	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:206328829A>G	uc001hdu.2	+	7	1014	c.896A>G	c.(895-897)AAC>AGC	p.N299S	CTSE_uc001hdv.2_Intron|CTSE_uc010prs.1_Intron	NM_001910	NP_001901	P14091	CATE_HUMAN	cathepsin E isoform a preproprotein	304					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CAGCTGCAAAACGCCATTGGG	0.607												
PLXNA2	5362	broad.mit.edu	37	1	208205091	208205091	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:208205091T>G	uc001hgz.2	-	29	5827	c.5069A>C	c.(5068-5070)AAG>ACG	p.K1690T	PLXNA2_uc001hgy.2_5'Flank	NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	1690	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GTCCACAAACTTCTGCAGGGT	0.577												
PLXNA2	5362	broad.mit.edu	37	1	208269412	208269412	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:208269412G>A	uc001hgz.2	-	8	2702	c.1944C>T	c.(1942-1944)AGC>AGT	p.S648S		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	648	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGAACTCGGTGCTGACAAATA	0.438												
HHAT	55733	broad.mit.edu	37	1	210686512	210686512	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:210686512A>G	uc009xcx.2	+	9	1189	c.1023A>G	c.(1021-1023)GGA>GGG	p.G341G	HHAT_uc010psq.1_Silent_p.G204G|HHAT_uc001hhz.3_Silent_p.G341G|HHAT_uc010psr.1_Silent_p.G342G|HHAT_uc010pss.1_Silent_p.G296G|HHAT_uc009xcy.2_Silent_p.G276G|HHAT_uc010pst.1_Silent_p.G278G|HHAT_uc010psu.1_Silent_p.G276G|HHAT_uc001hia.3_Silent_p.G31G	NM_001122834	NP_001116306	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	341					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TTGATGTTGGACTGCATAATT	0.244												
RCOR3	55758	broad.mit.edu	37	1	211486764	211486764	+	Splice_Site	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:211486764A>G	uc001hig.2	+	11	1313	c.1144_splice	c.e11-2	p.A382_splice	RCOR3_uc010psw.1_Splice_Site_p.A440_splice|RCOR3_uc001hif.2_Splice_Site_p.G359_splice|RCOR3_uc009xcz.2_Splice_Site	NM_018254	NP_060724	Q9P2K3	RCOR3_HUMAN	REST corepressor 3 isoform d						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		CCTCACCTCTAGGCACAGACC	0.448												
PTPN14	5784	broad.mit.edu	37	1	214557016	214557016	+	Missense_Mutation	SNP	G	G	A	rs143375730	by1000genomes	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:214557016G>A	uc001hkk.1	-	13	2453	c.2182C>T	c.(2182-2184)CGG>TGG	p.R728W	PTPN14_uc010pty.1_Missense_Mutation_p.R629W	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	728					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ATCTTCTCCCGGAGCATGGGG	0.612												
PTPN14	5784	broad.mit.edu	37	1	214575076	214575076	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:214575076A>G	uc001hkk.1	-	7	892	c.621T>C	c.(619-621)AAT>AAC	p.N207N	PTPN14_uc010pty.1_Silent_p.N108N	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	207	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GTTCAACTTCATTGATGTACA	0.448												
USH2A	7399	broad.mit.edu	37	1	215990473	215990473	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:215990473G>T	uc001hku.1	-	48	9823	c.9436C>A	c.(9436-9438)CTA>ATA	p.L3146I		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3146	Extracellular (Potential).|Fibronectin type-III 18.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTTTCCATAGGAGATCATAT	0.408										HNSCC(13;0.011)		
LYPLAL1	127018	broad.mit.edu	37	1	219366532	219366532	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:219366532G>A	uc001hlq.3	+	3	341	c.300G>A	c.(298-300)GTG>GTA	p.V100V	LYPLAL1_uc001hlr.3_Silent_p.V84V|LYPLAL1_uc001hls.3_Intron|LYPLAL1_uc001hlt.3_Intron|LYPLAL1_uc009xds.2_Intron	NM_138794	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	100						cytoplasm	lysophospholipase activity				0				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		TGTGTCAAGTGCTTACTGATT	0.348												
IARS2	55699	broad.mit.edu	37	1	220279373	220279373	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:220279373G>A	uc001hmc.2	+	9	1311	c.1207G>A	c.(1207-1209)GGT>AGT	p.G403S		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	mitochondrial isoleucine tRNA synthetase	403					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			ovary(2)|skin(2)	4				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GGAAGACTACGGTGTAGCGTC	0.413												
RAB3GAP2	25782	broad.mit.edu	37	1	220364615	220364615	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:220364615C>T	uc010puk.1	-	14	1446	c.1282G>A	c.(1282-1284)GCA>ACA	p.A428T	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.A8T	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	428					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)		CCAATTTGTGCGTCGCGGTAC	0.413												
HLX	3142	broad.mit.edu	37	1	221057685	221057685	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:221057685G>A	uc001hmv.3	+	4	1563	c.1106G>A	c.(1105-1107)CGT>CAT	p.R369H		NM_021958	NP_068777	Q14774	HLX_HUMAN	H2.0-like homeobox	369	Ser-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				GBM - Glioblastoma multiforme(131;0.00914)		AGCCCCAGCCGTTCTGAAGGC	0.667												
C1orf65	164127	broad.mit.edu	37	1	223567946	223567946	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:223567946C>T	uc001hoa.2	+	1	1232	c.1129C>T	c.(1129-1131)CGG>TGG	p.R377W		NM_152610	NP_689823	Q8N715	CA065_HUMAN	hypothetical protein LOC164127	377	Potential.									central_nervous_system(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0704)		GTGCCAGGTGCGGCGCCTGCG	0.662												
TMEM63A	9725	broad.mit.edu	37	1	226037670	226037670	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:226037670A>G	uc001hpm.1	-	21	2264	c.2014T>C	c.(2014-2016)TTG>CTG	p.L672L		NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	672	Helical; (Potential).					integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					GGGGCTGCCAAGGCCTGGTTC	0.612												
TMEM63A	9725	broad.mit.edu	37	1	226053597	226053597	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:226053597C>T	uc001hpm.1	-	10	996	c.746G>A	c.(745-747)CGG>CAG	p.R249Q		NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	249						integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					ACCTGCTTACCGGAAGTGGCT	0.622												
OBSCN	84033	broad.mit.edu	37	1	228401921	228401921	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:228401921C>T	uc009xez.1	+	4	1349	c.1305C>T	c.(1303-1305)GGC>GGT	p.G435G	OBSCN_uc001hsn.2_Silent_p.G435G|uc001hsm.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	435	Ig-like 5.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				TGCGCGTGGGCGACACGGCTA	0.711												
TAF5L	27097	broad.mit.edu	37	1	229737984	229737984	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:229737984G>A	uc001htq.2	-	4	1096	c.930C>T	c.(928-930)GAC>GAT	p.D310D	TAF5L_uc001htr.2_Silent_p.D310D	NM_014409	NP_055224	O75529	TAF5L_HUMAN	PCAF associated factor 65 beta isoform a	310					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)	1	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TGCGGGACACGTCTACTTGGT	0.463												
AGT	183	broad.mit.edu	37	1	230846080	230846080	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:230846080A>G	uc001hty.3	-	2	1025	c.517T>C	c.(517-519)TCC>CCC	p.S173P	AGT_uc009xfe.2_Missense_Mutation_p.S173P|AGT_uc009xff.2_Missense_Mutation_p.S145P	NM_000029	NP_000020	P01019	ANGT_HUMAN	angiotensinogen preproprotein	173					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding				0	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	TCCAGCCGGGAGGTGCAGTTC	0.622												
HEATR1	55127	broad.mit.edu	37	1	236730088	236730088	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:236730088T>C	uc001hyd.1	-	30	4291	c.4166A>G	c.(4165-4167)CAC>CGC	p.H1389R	HEATR1_uc009xgh.1_Missense_Mutation_p.H551R	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1389					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTCCGGGACGTGTGGCAGCGC	0.448												
ACTN2	88	broad.mit.edu	37	1	236906269	236906269	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:236906269G>A	uc001hyf.2	+	11	1385	c.1181G>A	c.(1180-1182)CGG>CAG	p.R394Q	ACTN2_uc001hyg.2_Missense_Mutation_p.R186Q|ACTN2_uc009xgi.1_Missense_Mutation_p.R394Q|ACTN2_uc010pxu.1_Missense_Mutation_p.R83Q|ACTN2_uc001hyh.2_Missense_Mutation_p.R82Q	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	394					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AATGAGATTCGGAGACTGGAG	0.547												
RYR2	6262	broad.mit.edu	37	1	237947929	237947929	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:237947929T>C	uc001hyl.1	+	90	13037	c.12917T>C	c.(12916-12918)TTC>TCC	p.F4306S	RYR2_uc010pya.1_Missense_Mutation_p.F721S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4306	Helical; Name=M4; (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGAGGCTTTTTCCGCATCATT	0.502												
GREM2	64388	broad.mit.edu	37	1	240656299	240656299	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:240656299G>A	uc001hys.2	-	2	757	c.477C>T	c.(475-477)TCC>TCT	p.S159S		NM_022469	NP_071914	Q9H772	GREM2_HUMAN	gremlin 2 precursor	159	CTCK.				BMP signaling pathway	extracellular space	cytokine activity				0		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TCAGGTTCACGGACATGCACC	0.512												
FH	2271	broad.mit.edu	37	1	241680541	241680541	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:241680541C>T	uc001hyx.2	-	2	240	c.208G>A	c.(208-210)GCC>ACC	p.A70T		NM_000143	NP_000134	P07954	FUMH_HUMAN	fumarate hydratase precursor	70					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			lung(3)|ovary(1)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		ACGGTCTGGGCGCCATAATAC	0.408			Mis|N|F			lieomyomatosis|renal			Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer			
CNST	163882	broad.mit.edu	37	1	246797842	246797842	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:246797842T>C	uc001ibp.2	+	6	1149	c.771T>C	c.(769-771)AAT>AAC	p.N257N	CNST_uc001ibo.3_Silent_p.N257N	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	257					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						AGGGATTTAATGGTGAAGATT	0.343												
OR2T6	254879	broad.mit.edu	37	1	248550915	248550915	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:248550915T>C	uc001iei.1	+	1	6	c.6T>C	c.(4-6)AAT>AAC	p.N2N		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	2	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTACCATGAATGAAAACAATG	0.383												
OR2T1	26696	broad.mit.edu	37	1	248569514	248569514	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:248569514C>T	uc010pzm.1	+	1	219	c.219C>T	c.(217-219)ACC>ACT	p.T73T		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	73	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(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)			GAAAGGAAACCTCAGGTCTTA	0.423												
IL2RA	3559	broad.mit.edu	37	10	6061429	6061429	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:6061429A>G	uc001iiz.1	-	6	848	c.689T>C	c.(688-690)ATG>ACG	p.M230T	IL2RA_uc009xih.1_Missense_Mutation_p.M158T|IL2RA_uc001ija.1_Missense_Mutation_p.M96T	NM_000417	NP_000408	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha chain precursor	230	Extracellular (Potential).				cell proliferation	integral to membrane	interleukin-2 receptor activity			ovary(1)|skin(1)	2					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGACGTCTCCATGGTTGCAGC	0.443												
ITIH5	80760	broad.mit.edu	37	10	7618459	7618459	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:7618459G>A	uc001ijq.2	-	10	2014	c.1935C>T	c.(1933-1935)CCC>CCT	p.P645P	ITIH5_uc001ijp.2_Silent_p.P431P|ITIH5_uc001ijr.1_Silent_p.P645P	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	645					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						CCACCGGTTCGGGTCCCATGG	0.677												
ITIH5	80760	broad.mit.edu	37	10	7618934	7618934	+	Missense_Mutation	SNP	C	C	T	rs112992012	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:7618934C>T	uc001ijq.2	-	10	1539	c.1460G>A	c.(1459-1461)CGC>CAC	p.R487H	ITIH5_uc001ijp.2_Missense_Mutation_p.R273H|ITIH5_uc001ijr.1_Missense_Mutation_p.R487H	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	487					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						ATAATCGATGCGGATGTCAGA	0.592												
TAF3	83860	broad.mit.edu	37	10	8055793	8055793	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:8055793T>C	uc010qbd.1	+	6	2668	c.2668T>C	c.(2668-2670)TAC>CAC	p.Y890H		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	890	PHD-type.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1						CGATGACTGGTACCACTGGTG	0.577												
MCM10	55388	broad.mit.edu	37	10	13231078	13231078	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:13231078A>G	uc001ima.2	+	10	1517	c.1416A>G	c.(1414-1416)TCA>TCG	p.S472S	MCM10_uc001imb.2_Silent_p.S471S|MCM10_uc001imc.2_Silent_p.S471S	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	472					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						ATGCAGCTTCAATGTAAGACG	0.473												
RPP38	10557	broad.mit.edu	37	10	15145991	15145991	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:15145991C>A	uc001iny.3	+	3	1391	c.678C>A	c.(676-678)AGC>AGA	p.S226R	RPP38_uc009xjm.2_Missense_Mutation_p.S226R|RPP38_uc001inx.3_Missense_Mutation_p.S226R	NM_183005	NP_892117	P78345	RPP38_HUMAN	ribonuclease P/MRP 38 subunit	226					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			ovary(1)	1						CTCTGGAAAGCCAAGACAGAG	0.443												
FAM171A1	221061	broad.mit.edu	37	10	15255974	15255974	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:15255974T>C	uc001iob.2	-	8	1620	c.1613A>G	c.(1612-1614)GAA>GGA	p.E538G		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	538	Cytoplasmic (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						CATCATACATTCAGTGGGTCT	0.557												
CUBN	8029	broad.mit.edu	37	10	17113457	17113457	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:17113457T>G	uc001ioo.2	-	19	2645	c.2593A>C	c.(2593-2595)AGT>CGT	p.S865R		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	865	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGGCAGAACTTCCAATTTCA	0.383												
STAM	8027	broad.mit.edu	37	10	17756586	17756586	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:17756586C>T	uc001ipj.1	+	14	1646	c.1430C>T	c.(1429-1431)GCG>GTG	p.A477V	STAM_uc009xjw.1_Missense_Mutation_p.A135V	NM_003473	NP_003464	Q92783	STAM1_HUMAN	signal transducing adaptor molecule 1	477					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			large_intestine(1)|ovary(1)	2						CCCAGCCAGGCGCCAGTATAT	0.478												
SLC39A12	221074	broad.mit.edu	37	10	18292281	18292281	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:18292281T>C	uc001ipo.2	+	12	2214	c.1941T>C	c.(1939-1941)GTT>GTC	p.V647V	SLC39A12_uc001ipn.2_Silent_p.V610V|SLC39A12_uc001ipp.2_Silent_p.V646V|SLC39A12_uc010qck.1_Silent_p.V513V|uc001ipq.1_RNA	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	647	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						TATCCTTGGTTGAAATGGTAA	0.363												
MLLT10	8028	broad.mit.edu	37	10	22021968	22021968	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:22021968G>A	uc001iqs.2	+	19	2755	c.2407G>A	c.(2407-2409)GCA>ACA	p.A803T	MLLT10_uc001iqt.2_Missense_Mutation_p.A787T|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.A787T|MLLT10_uc001ira.2_Missense_Mutation_p.A244T|MLLT10_uc001irb.2_RNA	NM_004641	NP_004632	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	803					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(1)|skin(1)	2						AACAATAACAGCAAATCCTAG	0.353			T	MLL|PICALM|CDK6	AL							
ARHGAP21	57584	broad.mit.edu	37	10	24880871	24880871	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:24880871T>C	uc001isb.2	-	22	4434	c.3947A>G	c.(3946-3948)CAC>CGC	p.H1316R	ARHGAP21_uc010qdb.1_RNA	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1315	Rho-GAP.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8						GGTGACCATGTGGGTCATGTT	0.448												
ABI1	10006	broad.mit.edu	37	10	27066140	27066140	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:27066140G>A	uc001isx.2	-	3	483	c.316C>T	c.(316-318)CGA>TGA	p.R106*	ABI1_uc001ite.2_Nonsense_Mutation_p.R106*|ABI1_uc010qdh.1_Nonsense_Mutation_p.R106*|ABI1_uc010qdi.1_Intron|ABI1_uc001isy.2_Nonsense_Mutation_p.R106*|ABI1_uc001ita.2_Nonsense_Mutation_p.R106*|ABI1_uc001isz.2_Nonsense_Mutation_p.R106*|ABI1_uc001itb.2_Nonsense_Mutation_p.R123*|ABI1_uc001itc.2_Nonsense_Mutation_p.R106*|ABI1_uc010qdj.1_Nonsense_Mutation_p.R106*|ABI1_uc001itd.2_Nonsense_Mutation_p.R106*|ABI1_uc010qdk.1_Nonsense_Mutation_p.R106*|ABI1_uc010qdg.1_Translation_Start_Site	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN	abl-interactor 1 isoform a	106	t-SNARE coiled-coil homology.				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)	1						ATCTCTCTTCGTGCCACTTTC	0.328												
ACBD5	91452	broad.mit.edu	37	10	27512341	27512341	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:27512341A>G	uc010qdp.1	-	5	607	c.416T>C	c.(415-417)TTG>TCG	p.L139S	ACBD5_uc010qdm.1_Missense_Mutation_p.L137S|ACBD5_uc010qdn.1_Missense_Mutation_p.L30S|ACBD5_uc010qdo.1_Missense_Mutation_p.L30S|ACBD5_uc001ito.2_Missense_Mutation_p.L104S|ACBD5_uc001itp.2_Missense_Mutation_p.L30S|ACBD5_uc001itq.2_Missense_Mutation_p.L30S|ACBD5_uc001itr.1_5'UTR	NM_145698	NP_663736	Q5T8D3	ACBD5_HUMAN	acyl-Coenzyme A binding domain containing 5	137					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding				0						GACACGCAGCAATTCTTCAAC	0.328												
KIAA1462	57608	broad.mit.edu	37	10	30316940	30316940	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:30316940G>A	uc001iux.2	-	2	2196	c.2137C>T	c.(2137-2139)CCG>TCG	p.P713S	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.P575S|KIAA1462_uc009xle.1_Missense_Mutation_p.P713S	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	713										ovary(4)	4						GCACGACTCGGCCCTCCCAGC	0.572												
NRP1	8829	broad.mit.edu	37	10	33491868	33491868	+	Silent	SNP	G	G	A	rs148913335		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:33491868G>A	uc001iwx.3	-	11	2338	c.1815C>T	c.(1813-1815)GAC>GAT	p.D605D	NRP1_uc001iwv.3_Silent_p.D605D|NRP1_uc009xlz.2_Silent_p.D605D|NRP1_uc001iww.3_Silent_p.D424D|NRP1_uc001iwy.3_Silent_p.D605D|NRP1_uc001iwz.2_Silent_p.D605D|NRP1_uc001ixa.2_Intron|NRP1_uc001ixb.1_Silent_p.D605D	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	605	Extracellular (Potential).				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)	TGGCCTGGTCGTCATCACATT	0.483												
ZNF33B	7582	broad.mit.edu	37	10	43089408	43089408	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:43089408T>C	uc001jaf.1	-	5	1105	c.990A>G	c.(988-990)GAA>GAG	p.E330E	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Silent_p.E218E|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	330	C2H2-type 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						ATTCATTACATTCAAAGTGTT	0.408												
C10orf71	118461	broad.mit.edu	37	10	50530925	50530925	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:50530925A>G	uc010qgp.1	+	3	674	c.335A>G	c.(334-336)TAC>TGC	p.Y112C		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	112											0						GAGGAAAAGTACCCCAAAACC	0.567												
ERCC6	2074	broad.mit.edu	37	10	50678712	50678712	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:50678712A>G	uc001jhs.3	-	18	3448	c.3294T>C	c.(3292-3294)AGT>AGC	p.S1098S	ERCC6_uc009xod.2_Silent_p.S258S|ERCC6_uc010qgr.1_Silent_p.S468S|ERCC6_uc001jhr.3_Silent_p.S466S	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	1098					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						TTACATTACTACTCATGTGAG	0.398								Direct_reversal_of_damage|NER				
CSTF2T	23283	broad.mit.edu	37	10	53458101	53458101	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:53458101C>A	uc001jjp.2	-	1	1255	c.1209G>T	c.(1207-1209)AGG>AGT	p.R403S	PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit	403	Gly-rich.				mRNA processing	nucleus	nucleotide binding|RNA binding			ovary(1)	1				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		TAGGTAGACCCCTTTGATCTA	0.527												
PCDH15	65217	broad.mit.edu	37	10	55782925	55782925	+	Missense_Mutation	SNP	T	T	G	rs74905541		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:55782925T>G	uc001jju.1	-	19	2648	c.2253A>C	c.(2251-2253)CAA>CAC	p.Q751H	PCDH15_uc010qhq.1_Missense_Mutation_p.Q756H|PCDH15_uc010qhr.1_Missense_Mutation_p.Q751H|PCDH15_uc010qhs.1_Missense_Mutation_p.Q763H|PCDH15_uc010qht.1_Missense_Mutation_p.Q758H|PCDH15_uc010qhu.1_Missense_Mutation_p.Q751H|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.Q751H|PCDH15_uc010qhw.1_Missense_Mutation_p.Q714H|PCDH15_uc010qhx.1_Missense_Mutation_p.Q680H|PCDH15_uc010qhy.1_Missense_Mutation_p.Q756H|PCDH15_uc010qhz.1_Missense_Mutation_p.Q751H|PCDH15_uc010qia.1_Missense_Mutation_p.Q729H|PCDH15_uc010qib.1_Missense_Mutation_p.Q729H|PCDH15_uc001jjw.2_Missense_Mutation_p.Q751H	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	751	Extracellular (Potential).|Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TGTAGTGCACTTGACCATTTA	0.363										HNSCC(58;0.16)		
ANK3	288	broad.mit.edu	37	10	61831056	61831056	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:61831056C>A	uc001jky.2	-	37	9775	c.9583G>T	c.(9583-9585)GGC>TGC	p.G3195C	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	3195					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						CTGGGTTTGCCTGGTATATAA	0.488												
ARID5B	84159	broad.mit.edu	37	10	63759903	63759903	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:63759903C>T	uc001jlt.1	+	4	582	c.556C>T	c.(556-558)CGG>TGG	p.R186W	ARID5B_uc010qil.1_Missense_Mutation_p.R186W	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	186					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)					CCAGTACTGCCGGTACCGCTC	0.522												
JMJD1C	221037	broad.mit.edu	37	10	64967949	64967949	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:64967949T>C	uc001jmn.2	-	10	3780	c.3480A>G	c.(3478-3480)GTA>GTG	p.V1160V	JMJD1C_uc001jml.2_Silent_p.V941V|JMJD1C_uc001jmm.2_Silent_p.V872V|JMJD1C_uc010qiq.1_Silent_p.V978V|JMJD1C_uc009xpi.2_Silent_p.V978V|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Silent_p.V197V	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1160					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)					GTATCTTGCCTACTAAACCTT	0.408												
JMJD1C	221037	broad.mit.edu	37	10	64979741	64979741	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:64979741G>A	uc001jmn.2	-	4	750	c.450C>T	c.(448-450)GAC>GAT	p.D150D	JMJD1C_uc001jml.2_Intron|JMJD1C_uc001jmm.2_Translation_Start_Site|JMJD1C_uc010qiq.1_Translation_Start_Site|JMJD1C_uc009xpi.2_Translation_Start_Site|JMJD1C_uc009xpj.1_Intron|JMJD1C_uc001jmp.1_Intron	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	150					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)					TGTCTATGTCGTCCTAGAATT	0.413												
DNA2	1763	broad.mit.edu	37	10	70225564	70225564	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:70225564A>G	uc001jof.2	-	4	705	c.705T>C	c.(703-705)TCT>TCC	p.S235S	DNA2_uc001jog.1_Silent_p.S149S|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	149					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0						TGGCTGGATCAGAGCTCTACA	0.338												
HK1	3098	broad.mit.edu	37	10	71158430	71158430	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:71158430G>A	uc001jpl.3	+	17	2556	c.2455G>A	c.(2455-2457)GTC>ATC	p.V819I	HK1_uc001jpg.3_Missense_Mutation_p.V807I|HK1_uc001jph.3_Missense_Mutation_p.V823I|HK1_uc001jpi.3_Missense_Mutation_p.V823I|HK1_uc001jpj.3_Missense_Mutation_p.V854I|HK1_uc001jpk.3_Missense_Mutation_p.V818I	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	819	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						CAGTATCCTCGTCAAGACAGT	0.597												
UNC5B	219699	broad.mit.edu	37	10	73059019	73059019	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:73059019C>T	uc001jro.2	+	17	3268	c.2823C>T	c.(2821-2823)ACC>ACT	p.T941T	UNC5B_uc001jrp.2_Silent_p.T930T|UNC5B_uc001jrq.1_5'Flank	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	941	Cytoplasmic (Potential).|Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						CTGTGGCCACCGACGGGGACT	0.662												
NUDT13	25961	broad.mit.edu	37	10	74890516	74890516	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:74890516T>A	uc001jtj.2	+	9	1039	c.914T>A	c.(913-915)GTA>GAA	p.V305E	NUDT13_uc010qkc.1_Missense_Mutation_p.V179E|NUDT13_uc010qkd.1_Missense_Mutation_p.V108E|NUDT13_uc009xqw.2_RNA|NUDT13_uc001jtk.2_3'UTR|NUDT13_uc010qke.1_Missense_Mutation_p.V108E|NUDT13_uc001jtl.2_Missense_Mutation_p.V216E	NM_015901	NP_056985	Q86X67	NUD13_HUMAN	nudix-type motif 13	305	Nudix hydrolase.						hydrolase activity|metal ion binding				0	Prostate(51;0.0119)					CATGATGAGGTAGCCACAGCC	0.483												
PLAU	5328	broad.mit.edu	37	10	75676249	75676249	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:75676249G>A	uc001jwa.2	+	11	1368	c.1222G>A	c.(1222-1224)GTC>ATC	p.V408I	C10orf55_uc001jvz.1_Intron|PLAU_uc010qkw.1_Missense_Mutation_p.V391I|PLAU_uc010qkx.1_Missense_Mutation_p.V322I|PLAU_uc001jwb.2_RNA|PLAU_uc001jwc.2_Missense_Mutation_p.V408I|PLAU_uc009xrq.1_Missense_Mutation_p.V372I	NM_002658	NP_002649	P00749	UROK_HUMAN	plasminogen activator, urokinase isoform 1	408	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(2)|kidney(1)	3	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	CAAGCCAGGCGTCTACACGAG	0.602												
VCL	7414	broad.mit.edu	37	10	75871668	75871668	+	Missense_Mutation	SNP	C	C	T	rs143321584		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:75871668C>T	uc001jwd.2	+	19	2841	c.2747C>T	c.(2746-2748)CCG>CTG	p.P916L	VCL_uc009xrr.2_Intron|VCL_uc010qky.1_Missense_Mutation_p.P823L|VCL_uc001jwe.2_Intron|VCL_uc010qkz.1_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	vinculin isoform meta-VCL	916	C-terminal tail.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	kidney(4)|ovary(1)|central_nervous_system(1)	6	Prostate(51;0.0112)					TCGACAAAGCCGGGCATCCCA	0.542												
MYST4	23522	broad.mit.edu	37	10	76781836	76781836	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:76781836G>A	uc001jwn.1	+	16	3712	c.3219G>A	c.(3217-3219)GAG>GAA	p.E1073E	MYST4_uc001jwm.1_Silent_p.E781E|MYST4_uc001jwo.1_Silent_p.E781E|MYST4_uc001jwp.1_Silent_p.E890E	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1073	Poly-Glu.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					aagaagaagaggaggaggagg	0.239			T	CREBBP	AML						OREG0020273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MYST4	23522	broad.mit.edu	37	10	76789488	76789488	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:76789488A>G	uc001jwn.1	+	18	5399	c.4906A>G	c.(4906-4908)ATC>GTC	p.I1636V	MYST4_uc001jwo.1_Missense_Mutation_p.I1344V|MYST4_uc001jwp.1_Missense_Mutation_p.I1453V	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1636	Ser-rich.|Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					TCAAAGTGCCATCTCAGTGCC	0.512			T	CREBBP	AML							
MYST4	23522	broad.mit.edu	37	10	76789800	76789800	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:76789800A>C	uc001jwn.1	+	18	5711	c.5218A>C	c.(5218-5220)ATC>CTC	p.I1740L	MYST4_uc001jwo.1_Missense_Mutation_p.I1448L|MYST4_uc001jwp.1_Missense_Mutation_p.I1557L	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1740	Ser-rich.|Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					GCAAACCAGCATCAGCTCCCC	0.612			T	CREBBP	AML							
SAMD8	142891	broad.mit.edu	37	10	76910314	76910314	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:76910314C>T	uc001jwx.1	+	2	131	c.28C>T	c.(28-30)CGC>TGC	p.R10C	SAMD8_uc001jwy.1_Missense_Mutation_p.R10C	NM_144660	NP_653261	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	10					sphingomyelin biosynthetic process	integral to membrane					0	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					ACTCTGCATTCGCCGCTGGAC	0.433												
SH2D4B	387694	broad.mit.edu	37	10	82331288	82331288	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:82331288G>A	uc001kck.1	+	3	879	c.449G>A	c.(448-450)CGC>CAC	p.R150H	SH2D4B_uc001kcl.1_Missense_Mutation_p.R101H	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B isoform 1	149	Glu-rich.										0			Colorectal(32;0.229)			ATGGAAGACCGCAAGGCTGCC	0.587												
ACTA2	59	broad.mit.edu	37	10	90697858	90697858	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:90697858T>G	uc001kfp.2	-	8	1066	c.950A>C	c.(949-951)AAG>ACG	p.K317T	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Missense_Mutation_p.K272T|ACTA2_uc001kfq.2_Missense_Mutation_p.K317T|uc001kfo.1_Intron	NM_001613	NP_001604	P62736	ACTA_HUMAN	alpha 2 actin	317					response to virus	cytosol	ATP binding				0		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		CGTGATCTCCTTCTGCATTCG	0.517												
IFIT2	3433	broad.mit.edu	37	10	91066183	91066183	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:91066183C>T	uc009xts.2	+	2	645	c.470C>T	c.(469-471)GCG>GTG	p.A157V	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	interferon-induced protein with	157	TPR 2.				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			ovary(1)|skin(1)	2		Colorectal(252;0.0161)				AATGAAAGAGCGAAGGTGTGC	0.483												
HTR7	3363	broad.mit.edu	37	10	92617193	92617193	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:92617193A>G	uc001kha.2	-	1	479	c.236T>C	c.(235-237)GTC>GCC	p.V79A	HTR7_uc001kgz.2_Missense_Mutation_p.V79A|HTR7_uc001khb.2_Missense_Mutation_p.V79A	NM_019859	NP_062873	P34969	5HT7R_HUMAN	5-hydroxytryptamine receptor 7 isoform d	79	Extracellular (By similarity).				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			ovary(1)	1					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	AACTTTCTCGACTCTGCCGTA	0.637												
HHEX	3087	broad.mit.edu	37	10	94452214	94452214	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:94452214G>A	uc001kid.2	+	2	514	c.451G>A	c.(451-453)GAG>AAG	p.E151K		NM_002729	NP_002720	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	151	Homeobox.				anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding			ovary(1)	1						CCAGACCATCGAGCTGGAGAA	0.577												
MYOF	26509	broad.mit.edu	37	10	95111577	95111577	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:95111577G>T	uc001kin.2	-	33	3631	c.3508C>A	c.(3508-3510)CAT>AAT	p.H1170N	MYOF_uc001kio.2_Missense_Mutation_p.H1157N|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1170	Cytoplasmic (Potential).|C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						TTGCTCCGATGGAGGAAACAG	0.438												
MYOF	26509	broad.mit.edu	37	10	95211875	95211875	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:95211875A>G	uc001kin.2	-	3	291	c.168T>C	c.(166-168)GGT>GGC	p.G56G	MYOF_uc001kio.2_Silent_p.G56G|MYOF_uc001kip.3_Silent_p.G56G|MYOF_uc009xuf.2_Silent_p.G38G	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	56	C2 1.|Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						CCAGTGGTATACCCCTCAAGT	0.348												
NOC3L	64318	broad.mit.edu	37	10	96098412	96098412	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:96098412A>G	uc001kjq.1	-	18	2132	c.2044T>C	c.(2044-2046)TAC>CAC	p.Y682H		NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog	682						nuclear speck|nucleolus	binding			ovary(1)	1		Colorectal(252;0.0897)				GCATTGCAGTACTCAGGCTCA	0.443												
PDLIM1	9124	broad.mit.edu	37	10	97050611	97050611	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:97050611C>T	uc001kkh.2	-	1	171	c.62G>A	c.(61-63)GGC>GAC	p.G21D	PDLIM1_uc001kki.2_Missense_Mutation_p.G21D|PDLIM1_uc009xuv.2_Missense_Mutation_p.G21D|PDLIM1_uc001kkj.1_Missense_Mutation_p.G21D	NM_020992	NP_066272	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	21	PDZ.			G -> R (in Ref. 1; AAC05580).	response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding				0		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GAAGTCCTTGCCGCCCACGAG	0.701												
ZDHHC16	84287	broad.mit.edu	37	10	99212022	99212022	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:99212022C>T	uc001knj.2	+	4	768	c.419C>T	c.(418-420)CCG>CTG	p.P140L	ZDHHC16_uc001knp.2_Missense_Mutation_p.P140L|ZDHHC16_uc001knk.2_Missense_Mutation_p.P140L|ZDHHC16_uc001knl.2_Missense_Mutation_p.P140L|ZDHHC16_uc001knm.2_Intron|ZDHHC16_uc001knn.2_Missense_Mutation_p.P140L|ZDHHC16_uc010qow.1_Missense_Mutation_p.P140L|ZDHHC16_uc009xvq.2_RNA|ZDHHC16_uc001kno.2_Missense_Mutation_p.P140L|ZDHHC16_uc009xvr.2_Missense_Mutation_p.P140L	NM_198046	NP_932163	Q969W1	ZDH16_HUMAN	Abl-philin 2 isoform 1	140	Cytoplasmic (Potential).				apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		ATCACCACTCCGCCTGGGTAC	0.562												
PI4K2A	55361	broad.mit.edu	37	10	99416585	99416585	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:99416585C>T	uc001kog.1	+	4	833	c.776C>T	c.(775-777)TCA>TTA	p.S259L	PI4K2A_uc010qoy.1_Missense_Mutation_p.S229L|PI4K2A_uc009xvw.1_5'UTR	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	259	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			lung(1)|skin(1)	2		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		CAGGTTGGTTCATTCCAGCTC	0.473												
CRTAC1	55118	broad.mit.edu	37	10	99664470	99664470	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:99664470G>T	uc001kou.1	-	7	1308	c.952C>A	c.(952-954)CGC>AGC	p.R318S	CRTAC1_uc001kov.2_Missense_Mutation_p.R307S|CRTAC1_uc001kot.1_Missense_Mutation_p.R108S	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1 precursor	318	FG-GAP 3; atypical.					proteinaceous extracellular matrix	calcium ion binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		AGATAGAGGCGGTGGGGGCCA	0.498												
NKX2-3	159296	broad.mit.edu	37	10	101294811	101294811	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:101294811C>T	uc009xwj.2	+	2	627	c.428C>T	c.(427-429)CCG>CTG	p.P143L		NM_145285	NP_660328	Q8TAU0	NKX23_HUMAN	NK2 transcription factor related, locus 3	143						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.45e-08)		AGCGAGAGGCCGAAGCCACGC	0.632												
CWF19L1	55280	broad.mit.edu	37	10	102013291	102013291	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:102013291T>C	uc001kqq.1	-	6	597	c.510A>G	c.(508-510)GAA>GAG	p.E170E	CWF19L1_uc001kqs.1_5'UTR|CWF19L1_uc001kqr.1_Silent_p.E170E|CWF19L1_uc001kqt.1_5'UTR|CWF19L1_uc010qpn.1_Silent_p.E33E	NM_018294	NP_060764	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control	170							catalytic activity				0		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		TGGTATCCACTTCTCCCTAGT	0.338												
LDB1	8861	broad.mit.edu	37	10	103867901	103867901	+	Silent	SNP	C	C	T	rs146408312		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:103867901C>T	uc009xwz.2	-	11	1528	c.1185G>A	c.(1183-1185)CCG>CCA	p.P395P	LDB1_uc001kuk.3_Silent_p.P359P	NM_001113407	NP_001106878	Q86U70	LDB1_HUMAN	LIM domain binding 1 isoform 1	395					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			large_intestine(1)	1		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		CTTGGCTGGACGGAGGCTTGC	0.607												
PSD	5662	broad.mit.edu	37	10	104176760	104176760	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:104176760G>A	uc001kvg.1	-	2	563	c.36C>T	c.(34-36)GGC>GGT	p.G12G	PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Silent_p.G12G|PSD_uc001kvi.1_Silent_p.G12G|FBXL15_uc001kvj.1_5'Flank|FBXL15_uc001kvk.2_5'Flank	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	12					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TGGCACAGTCGCCTTCCGAGC	0.721												
C10orf78	119392	broad.mit.edu	37	10	105885351	105885351	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:105885351T>C	uc001kxu.2	+	4	640	c.627T>C	c.(625-627)GCT>GCC	p.A209A	C10orf78_uc001kxs.2_Silent_p.A196A|C10orf78_uc001kxt.2_Silent_p.A163A|C10orf78_uc001kxv.2_Silent_p.A271A	NM_001002759	NP_001002759	Q86XK3	SFR1_HUMAN	hypothetical protein LOC119392 isoform a	209					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding				0		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;1.31e-09)|all cancers(201;3.84e-08)|BRCA - Breast invasive adenocarcinoma(275;0.014)		TGCAGTCAGCTGTGTCTGAAG	0.353												
GSTO2	119391	broad.mit.edu	37	10	106039129	106039129	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:106039129T>C	uc001kyb.2	+	5	996	c.368T>C	c.(367-369)GTC>GCC	p.V123A	GSTO2_uc010qqw.1_Missense_Mutation_p.V123A|GSTO2_uc010qqx.1_Intron|GSTO2_uc001kyc.2_Missense_Mutation_p.V95A|GSTO2_uc010qqy.1_Intron	NM_183239	NP_899062	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	123	GST C-terminal.				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	TCTGATTAGGTCCCACATTTG	0.502												
SORCS1	114815	broad.mit.edu	37	10	108489836	108489836	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:108489836C>T	uc001kym.2	-	6	1004	c.996G>A	c.(994-996)GTG>GTA	p.V332V	SORCS1_uc001kyl.2_Silent_p.V332V|SORCS1_uc009xxs.2_Silent_p.V332V|SORCS1_uc001kyn.1_Silent_p.V332V|SORCS1_uc001kyo.2_Silent_p.V332V	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	332	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCTCAAGATGCACAAGGTCTG	0.388												
HABP2	3026	broad.mit.edu	37	10	115340373	115340373	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:115340373A>C	uc001lai.3	+	8	863	c.760A>C	c.(760-762)AAG>CAG	p.K254Q	HABP2_uc010qrz.1_RNA	NM_004132	NP_004123	Q14520	HABP2_HUMAN	hyaluronan binding protein 2 preproprotein	254	Kringle.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		TGCGGACGAAAAGCCCTGGTG	0.428												
HABP2	3026	broad.mit.edu	37	10	115341710	115341710	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:115341710A>G	uc001lai.3	+	9	1017	c.914A>G	c.(913-915)GAG>GGG	p.E305G	HABP2_uc010qrz.1_Intron	NM_004132	NP_004123	Q14520	HABP2_HUMAN	hyaluronan binding protein 2 preproprotein	305					cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		GGAAAGACTGAGATAGCAGAG	0.542												
C10orf118	55088	broad.mit.edu	37	10	115910861	115910861	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:115910861C>T	uc001lbb.1	-	4	1530	c.878G>A	c.(877-879)CGG>CAG	p.R293Q	C10orf118_uc001lbc.1_Missense_Mutation_p.R293Q|C10orf118_uc009xye.1_RNA	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN	CTCL tumor antigen L14-2	293	Potential.									ovary(2)	2		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		CTGTTCCATCCGTTGGGCCAT	0.363												
VWA2	340706	broad.mit.edu	37	10	116038514	116038514	+	Missense_Mutation	SNP	C	C	T	rs149756313		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:116038514C>T	uc001lbl.1	+	8	1058	c.737C>T	c.(736-738)ACG>ATG	p.T246M	VWA2_uc001lbk.1_Missense_Mutation_p.T246M|VWA2_uc009xyf.1_Translation_Start_Site	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	246						extracellular region				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5				Epithelial(162;0.036)|all cancers(201;0.0793)		GAGCACAGGACGCTGGAGATG	0.627												
KIAA1598	57698	broad.mit.edu	37	10	118738812	118738812	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:118738812G>A	uc009xyw.2	-	2	564	c.66C>T	c.(64-66)GGC>GGT	p.G22G	KIAA1598_uc001lcz.3_Silent_p.G22G|KIAA1598_uc010qso.1_Intron|KIAA1598_uc010qsp.1_Silent_p.G22G|KIAA1598_uc010qsq.1_5'UTR	NM_001127211	NP_001120683	A0MZ66	SHOT1_HUMAN	shootin1 isoform a	22	Potential.				axon guidance	axon					0				all cancers(201;0.00494)		CTTCATATTCGCCTATTGCTA	0.408												
FAM45A	404636	broad.mit.edu	37	10	120889037	120889037	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:120889037T>C	uc001ldw.2	+	7	749	c.705T>C	c.(703-705)GCT>GCC	p.A235A	FAM45A_uc010qsv.1_Silent_p.A227A|FAM45A_uc010qsw.1_Silent_p.A84A|FAM45A_uc010qsx.1_RNA|FAM45A_uc010qsy.1_Silent_p.A162A|FAM45A_uc010qsz.1_Silent_p.A124A	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN	hypothetical protein LOC404636	235										ovary(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		GTTACGTCGCTGGATTTGTAG	0.448												
PRDX3	10935	broad.mit.edu	37	10	120928817	120928817	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:120928817G>A	uc001lec.2	-	6	632	c.589C>T	c.(589-591)CAT>TAT	p.H197Y		NM_006793	NP_006784	P30048	PRDX3_HUMAN	peroxiredoxin 3 isoform a precursor	197	Thioredoxin.				cell redox homeostasis|hydrogen peroxide catabolic process|mitochondrion organization|myeloid cell differentiation|negative regulation of kinase activity|positive regulation of cell proliferation|positive regulation of NF-kappaB transcription factor activity|regulation of mitochondrial membrane potential|response to lipopolysaccharide	early endosome|mitochondrion	alkyl hydroperoxide reductase activity|caspase inhibitor activity|peroxidase activity|peroxiredoxin activity|protein C-terminus binding|protein kinase binding				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0245)		ACGCTCAAATGCTTGATGACT	0.483												
PLEKHA1	59338	broad.mit.edu	37	10	124189429	124189429	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:124189429C>T	uc001lge.1	+	12	1313	c.1190C>T	c.(1189-1191)GCG>GTG	p.A397V	PLEKHA1_uc001lgf.1_3'UTR|PLEKHA1_uc001lgg.1_Missense_Mutation_p.A397V	NM_001001974	NP_001001974	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A	397					B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			kidney(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTGGACGATGCGAGCCTTCCG	0.502												
HMX2	3167	broad.mit.edu	37	10	124909354	124909354	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:124909354C>T	uc001lhc.1	+	2	794	c.537C>T	c.(535-537)CGC>CGT	p.R179R		NM_005519	NP_005510	A2RU54	HMX2_HUMAN	H6 family homeobox 2	179	Homeobox.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		GCTCGGAGCGCGCCTGCCTCG	0.637												
C10orf137	26098	broad.mit.edu	37	10	127451935	127451935	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:127451935C>T	uc001liq.1	+	25	3904	c.3611C>T	c.(3610-3612)GCA>GTA	p.A1204V	C10orf137_uc001lio.1_Missense_Mutation_p.A1170V|C10orf137_uc001lip.1_Missense_Mutation_p.A908V|C10orf137_uc001lis.1_Missense_Mutation_p.A530V|C10orf137_uc001lit.1_Missense_Mutation_p.A114V	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	1204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTTTTGAGAGCAACTGCAAAT	0.468												
FAM196A	642938	broad.mit.edu	37	10	128973736	128973736	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:128973736T>C	uc001lju.1	-	1	965	c.924A>G	c.(922-924)TCA>TCG	p.S308S	DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Silent_p.S308S|FAM196A_uc001ljv.1_Silent_p.S308S|FAM196A_uc009yap.1_Silent_p.S308S	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	hypothetical protein LOC642938	308										ovary(2)	2						GCATCGGGGGTGAGCAGGCCA	0.677												
TCERG1L	256536	broad.mit.edu	37	10	132944832	132944832	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:132944832G>A	uc001lkp.2	-	7	1212	c.1126C>T	c.(1126-1128)CGC>TGC	p.R376C	TCERG1L_uc009yax.1_RNA	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	376										large_intestine(2)|ovary(2)	4		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		AGGTCTCCGCGGTCCTTCAGG	0.547												
NLRP6	171389	broad.mit.edu	37	11	281721	281721	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:281721G>A	uc010qvs.1	+	4	1987	c.1987G>A	c.(1987-1989)GTG>ATG	p.V663M	NLRP6_uc010qvt.1_Missense_Mutation_p.V663M	NM_138329	NP_612202	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	663						cytoplasm	ATP binding			upper_aerodigestive_tract(1)|skin(1)	2		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGCTACTGCGTGAGGTGCTG	0.647												
PTDSS2	81490	broad.mit.edu	37	11	490481	490481	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:490481G>C	uc001lpj.2	+	12	1539	c.1363G>C	c.(1363-1365)GGC>CGC	p.G455R		NM_030783	NP_110410	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	455	Cytoplasmic (Potential).					integral to membrane					0		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GGATGACCAGGGCAGCACCGT	0.657												
DEAF1	10522	broad.mit.edu	37	11	686886	686886	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:686886G>A	uc001lqq.1	-	5	1469	c.776C>T	c.(775-777)GCG>GTG	p.A259V	DEAF1_uc009ycf.1_RNA	NM_021008	NP_066288	O75398	DEAF1_HUMAN	deformed epidermal autoregulatory factor 1	259	SAND.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding				0		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GGGTCGGCCCGCGTAGCGAAT	0.607												
MUC6	4588	broad.mit.edu	37	11	1018712	1018712	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:1018712A>G	uc001lsw.2	-	31	4140	c.4089T>C	c.(4087-4089)CGT>CGC	p.R1363R		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1363	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGGGGTTGGACGTGGGCCTG	0.537												
MUC6	4588	broad.mit.edu	37	11	1025193	1025193	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:1025193G>T	uc001lsw.2	-	23	3025	c.2974C>A	c.(2974-2976)CGT>AGT	p.R992S		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	992	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGGAGGCACGGGCGATCCTG	0.667												
MUC6	4588	broad.mit.edu	37	11	1027354	1027354	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:1027354A>G	uc001lsw.2	-	17	2196	c.2145T>C	c.(2143-2145)TGT>TGC	p.C715C		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	715					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTTGCGCACACACTCGCCCT	0.637												
MUC2	4583	broad.mit.edu	37	11	1088727	1088727	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:1088727G>T	uc001lsx.1	+	26	3539	c.3512G>T	c.(3511-3513)AGG>ATG	p.R1171M		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	1171						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCCAAGGACAGGCCCATCTAT	0.622												
MUC5B	727897	broad.mit.edu	37	11	1263838	1263838	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:1263838C>A	uc009ycr.1	+	47	7933	c.7807C>A	c.(7807-7809)CCG>ACG	p.P2603T	MUC5B_uc001ltb.2_Missense_Mutation_p.P1913T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	1910	7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTCACAAAGCCGACCACAAC	0.647												
CHRNA10	57053	broad.mit.edu	37	11	3687702	3687702	+	Missense_Mutation	SNP	G	G	A	rs147793274	by1000genomes	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:3687702G>A	uc001lyf.2	-	5	1060	c.988C>T	c.(988-990)CGC>TGC	p.R330C	CHRNA10_uc010qxt.1_Missense_Mutation_p.R124C|CHRNA10_uc010qxu.1_Missense_Mutation_p.R124C	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10	330	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			ovary(1)	1		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	GGCACTGGGCGGACACTGGGA	0.607												
NUP98	4928	broad.mit.edu	37	11	3744527	3744527	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:3744527T>C	uc001lyh.2	-	16	2297	c.2006A>G	c.(2005-2007)GAT>GGT	p.D669G	NUP98_uc001lyi.2_Missense_Mutation_p.D669G|NUP98_uc001lyj.1_Missense_Mutation_p.D669G|NUP98_uc001lyk.1_Missense_Mutation_p.D686G	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	686					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AACAATGGTATCATCCACACT	0.428			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML							
PGAP2	27315	broad.mit.edu	37	11	3845180	3845180	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:3845180G>A	uc001lys.2	+	4	542	c.416G>A	c.(415-417)CGT>CAT	p.R139H	PGAP2_uc001lyl.2_Missense_Mutation_p.R96H|PGAP2_uc010qxw.1_Missense_Mutation_p.R196H|PGAP2_uc010qxx.1_Silent_p.A119A|PGAP2_uc001lyp.3_Intron|PGAP2_uc010qxy.1_Missense_Mutation_p.R135H|PGAP2_uc010qxz.1_Missense_Mutation_p.R135H|PGAP2_uc001lyn.3_Silent_p.A31A|PGAP2_uc010qya.1_RNA|PGAP2_uc001lyr.2_Missense_Mutation_p.R78H|PGAP2_uc010qyb.1_Silent_p.A81A|PGAP2_uc001lyt.2_5'UTR	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	FGF receptor activating protein 1 isoform 1	139					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity				0						TACGTGTGGCGTTTCTGCATC	0.637												
OR52K2	119774	broad.mit.edu	37	11	4470698	4470698	+	Silent	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:4470698A>C	uc001lyz.1	+	1	129	c.129A>C	c.(127-129)GGA>GGC	p.G43G		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K,	43	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G43E(1)		skin(2)	2		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCTGCTTGGAAACTGCACTC	0.532												
OR52E8	390079	broad.mit.edu	37	11	5878374	5878374	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:5878374G>A	uc010qzr.1	-	1	559	c.559C>T	c.(559-561)CAC>TAC	p.H187Y	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E,	187	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCCCATGTGCTCACAATAA	0.483												
OR52L1	338751	broad.mit.edu	37	11	6007283	6007283	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:6007283A>T	uc001mcd.2	-	1	933	c.878T>A	c.(877-879)CTT>CAT	p.L293H		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L,	293	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGGCCAGAAGAACATGGAC	0.498												
OR52L1	338751	broad.mit.edu	37	11	6007474	6007474	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:6007474A>G	uc001mcd.2	-	1	742	c.687T>C	c.(685-687)GTT>GTC	p.V229V		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L,	229	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAATGGCCAGAACATCCAGCC	0.507												
CNGA4	1262	broad.mit.edu	37	11	6265475	6265475	+	Missense_Mutation	SNP	G	G	A	rs149747380		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:6265475G>A	uc001mco.2	+	6	1671	c.1564G>A	c.(1564-1566)GCA>ACA	p.A522T	CNGA4_uc010raa.1_3'UTR|CNGA4_uc001mcn.2_3'UTR	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	522	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGTCCAGCGCACTTAAGAT	0.602												
DCHS1	8642	broad.mit.edu	37	11	6645998	6645998	+	Silent	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:6645998A>C	uc001mem.1	-	20	7658	c.7248T>G	c.(7246-7248)GCT>GCG	p.A2416A		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	2416	Cadherin 23.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGCAGGGGAAGCCAGGTGGT	0.557												
DCHS1	8642	broad.mit.edu	37	11	6655431	6655431	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:6655431C>A	uc001mem.1	-	3	2314	c.1904G>T	c.(1903-1905)AGC>ATC	p.S635I		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	635	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACATCACCGCTGTGGGCATC	0.592												
SYT9	143425	broad.mit.edu	37	11	7324420	7324420	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:7324420T>G	uc001mfe.2	+	2	533	c.296T>G	c.(295-297)CTT>CGT	p.L99R	SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	synaptotagmin IX	99	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|large_intestine(1)	3				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CAGGAGCCCCTTAACTACATG	0.552												
SBF2	81846	broad.mit.edu	37	11	9983568	9983568	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:9983568T>G	uc001mib.2	-	16	1934	c.1796A>C	c.(1795-1797)AAC>ACC	p.N599T	SBF2_uc001mif.3_Missense_Mutation_p.N355T|SBF2_uc001mih.3_Missense_Mutation_p.N128T	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	599					myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TATTGCCCGGTTTTGCTGGAC	0.413												
SBF2	81846	broad.mit.edu	37	11	10022471	10022471	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:10022471A>T	uc001mib.2	-	8	989	c.851T>A	c.(850-852)GTC>GAC	p.V284D	SBF2_uc001mif.3_Missense_Mutation_p.V40D	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	284	DENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AAGTTCATGGACATCAGTTTT	0.358												
GALNTL4	374378	broad.mit.edu	37	11	11354360	11354360	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:11354360C>A	uc001mjo.2	-	8	1718	c.1297G>T	c.(1297-1299)GGG>TGG	p.G433W		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	433	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		GTGATGTCCCCAATGTCAATT	0.542												
USP47	55031	broad.mit.edu	37	11	11926990	11926990	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:11926990C>T	uc001mjq.1	+	9	1687	c.924C>T	c.(922-924)TAC>TAT	p.Y308Y	USP47_uc001mjr.2_Silent_p.Y220Y|USP47_uc001mjs.2_Silent_p.Y288Y	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	ubiquitin specific protease 47	308					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			ovary(1)|skin(1)	2				Epithelial(150;0.000339)		TGAAGGACTACGTGAGATGTC	0.368												
USP47	55031	broad.mit.edu	37	11	11977643	11977643	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:11977643T>C	uc001mjs.2	+	28	4752	c.3989T>C	c.(3988-3990)GTA>GCA	p.V1330A	USP47_uc001mjr.2_Missense_Mutation_p.V1262A|USP47_uc009ygi.2_Missense_Mutation_p.V132A	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	ubiquitin specific protease 47	1350					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			ovary(1)|skin(1)	2				Epithelial(150;0.000339)		GGACATCGTGTAACATACTCA	0.373												
INSC	387755	broad.mit.edu	37	11	15222403	15222403	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:15222403C>T	uc001mly.2	+	7	914	c.868C>T	c.(868-870)CGG>TGG	p.R290W	INSC_uc001mlz.2_Missense_Mutation_p.R243W|INSC_uc001mma.2_Missense_Mutation_p.R243W|INSC_uc010rcs.1_Missense_Mutation_p.R278W|INSC_uc001mmb.2_Missense_Mutation_p.R243W|INSC_uc001mmc.2_Intron	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN	inscuteable isoform a	290					cell differentiation|nervous system development	cytoplasm	binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						CAAGGTTTGCCGGCAGGACAG	0.557												
C11orf58	10944	broad.mit.edu	37	11	16769659	16769659	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:16769659C>T	uc001mmk.2	+	3	341	c.163C>T	c.(163-165)CGT>TGT	p.R55C	C11orf58_uc010rct.1_Missense_Mutation_p.R11C	NM_014267	NP_055082	O00193	SMAP_HUMAN	small acidic protein isoform a	55											0						ACATACTGGTCGTCTTGTTAT	0.249												
GTF2H1	2965	broad.mit.edu	37	11	18369452	18369452	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:18369452C>T	uc001moi.2	+	10	1733	c.1039C>T	c.(1039-1041)CCA>TCA	p.P347S	GTF2H1_uc001moh.2_Missense_Mutation_p.P347S|GTF2H1_uc009yhm.2_Missense_Mutation_p.P231S|GTF2H1_uc001moj.2_Missense_Mutation_p.P35S	NM_001142307	NP_001135779	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1,	347					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding				0						CTGCTTTCAGCCAGCAGTCAA	0.393								NER				
SPTY2D1	144108	broad.mit.edu	37	11	18637193	18637193	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:18637193G>A	uc001moy.2	-	3	844	c.628C>T	c.(628-630)CGA>TGA	p.R210*	SPTY2D1_uc010rdi.1_Nonsense_Mutation_p.R210*	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1	210										breast(1)	1						CTATGCTTTCGTTCAAGGAAT	0.428												
NAV2	89797	broad.mit.edu	37	11	19955098	19955098	+	Silent	SNP	C	C	T	rs113762718		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:19955098C>T	uc010rdm.1	+	8	1738	c.1377C>T	c.(1375-1377)TTC>TTT	p.F459F	NAV2_uc001mpp.2_Silent_p.F372F|NAV2_uc001mpr.3_Silent_p.F436F	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	459						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						TGCCCAGCTTCGAAGAGAGCG	0.612												
PRMT3	10196	broad.mit.edu	37	11	20424486	20424486	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:20424486T>C	uc001mqb.2	+	8	944	c.727T>C	c.(727-729)TAC>CAC	p.Y243H	PRMT3_uc001mqc.2_Missense_Mutation_p.Y166H|PRMT3_uc010rdn.1_Missense_Mutation_p.Y181H	NM_005788	NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3 isoform 1	243							zinc ion binding				0						AACAGAAAGCTACCGAGATTT	0.338												
ANO5	203859	broad.mit.edu	37	11	22296189	22296189	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:22296189A>G	uc001mqi.2	+	20	2627	c.2310A>G	c.(2308-2310)ACA>ACG	p.T770T	ANO5_uc001mqj.2_Silent_p.T769T	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	770	Extracellular (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4						CAAATGCCACACAGCCTATGA	0.388												
CCDC73	493860	broad.mit.edu	37	11	32635417	32635417	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:32635417T>A	uc001mtv.2	-	16	2491	c.2447A>T	c.(2446-2448)AAT>ATT	p.N816I		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	816										ovary(1)|central_nervous_system(1)	2	Breast(20;0.112)					AGTTACCTGATTCTCATCAAT	0.333												
QSER1	79832	broad.mit.edu	37	11	32953933	32953933	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:32953933G>T	uc001mty.2	+	4	1009	c.742G>T	c.(742-744)GGA>TGA	p.G248*	QSER1_uc001mtz.1_Intron|QSER1_uc001mua.2_5'Flank	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	248	Ser-rich.									ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					GAGCAACGGAGGATTACAACA	0.418												
DEPDC7	91614	broad.mit.edu	37	11	33050184	33050184	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:33050184C>T	uc001mub.2	+	4	720	c.628C>T	c.(628-630)CGT>TGT	p.R210C	DEPDC7_uc001muc.2_Missense_Mutation_p.R201C	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN	novel 58.3 KDA protein isoform 1	210					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|skin(1)	2						AACAATTGGGCGTCTACTACA	0.383												
NAT10	55226	broad.mit.edu	37	11	34145925	34145925	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:34145925G>A	uc001mvk.2	+	11	1329	c.1085G>A	c.(1084-1086)CGA>CAA	p.R362Q	NAT10_uc010ren.1_Missense_Mutation_p.R290Q	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 isoform a	362						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				AATGTATTTCGAGAACACAGG	0.433												
ABTB2	25841	broad.mit.edu	37	11	34181842	34181842	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:34181842G>T	uc001mvl.1	-	12	2128	c.1898C>A	c.(1897-1899)CCC>CAC	p.P633H		NM_145804	NP_665803	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing	633							DNA binding			central_nervous_system(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GCTGGGGATGGGACTGCTGCC	0.652												
SLC1A2	6506	broad.mit.edu	37	11	35333945	35333945	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:35333945T>C	uc001mwd.2	-	4	953	c.361A>G	c.(361-363)ATG>GTG	p.M121V	SLC1A2_uc001mwe.2_Missense_Mutation_p.M112V|SLC1A2_uc010rev.1_Missense_Mutation_p.M121V	NM_004171	NP_004162	P43004	EAA2_HUMAN	excitatory amino acid transporter 2	121	Helical; (Potential).				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			ovary(2)|central_nervous_system(1)	3	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	TAATACACCATGGCTCTCGTG	0.498												
ACCSL	390110	broad.mit.edu	37	11	44074571	44074571	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:44074571C>T	uc001mxw.1	+	7	957	c.901C>T	c.(901-903)CTC>TTC	p.L301F	ACCSL_uc009ykr.2_Missense_Mutation_p.L120F	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	301							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5						TCCTTTCCAGCTCACTGTGGA	0.458												
CD82	3732	broad.mit.edu	37	11	44626950	44626950	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:44626950G>A	uc001myc.2	+	6	555	c.307G>A	c.(307-309)GGG>AGG	p.G103R	CD82_uc001myd.2_Intron	NM_002231	NP_002222	P27701	CD82_HUMAN	CD82 antigen isoform 1	103	Helical; (Potential).					integral to plasma membrane	protein binding			ovary(1)	1						GGTGACGGCCGGGGCCCTCTT	0.602												
CHST1	8534	broad.mit.edu	37	11	45671304	45671304	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:45671304C>T	uc001mys.1	-	4	1841	c.1170G>A	c.(1168-1170)TCG>TCA	p.S390S		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	390	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCTCCTCCTCCGAGGCGGCGA	0.692												
CREB3L1	90993	broad.mit.edu	37	11	46334005	46334005	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:46334005C>T	uc001ncf.2	+	6	1318	c.883C>T	c.(883-885)CGG>TGG	p.R295W		NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like	295	Cytoplasmic (Potential).|Basic motif.				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	soft_tissue(6)|ovary(2)	8				GBM - Glioblastoma multiforme(35;0.0285)		GAAGAGAGTCCGGAGGAAAAT	0.587			T	FUS	myxofibrosarcoma							
CHRM4	1132	broad.mit.edu	37	11	46407256	46407256	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:46407256C>T	uc001nct.1	-	1	852	c.852G>A	c.(850-852)CCG>CCA	p.P284P		NM_000741	NP_000732	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	284	Cytoplasmic (By similarity).				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity				0				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	CCACGGGGCGCGGTGGCGGTG	0.687												
AMBRA1	55626	broad.mit.edu	37	11	46419427	46419427	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:46419427T>C	uc010rgu.1	-	18	3830	c.3470A>G	c.(3469-3471)GAG>GGG	p.E1157G	AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Missense_Mutation_p.E1128G|AMBRA1_uc001ncu.1_Missense_Mutation_p.E1067G|AMBRA1_uc001ncv.2_Missense_Mutation_p.E1160G|AMBRA1_uc001ncw.2_Missense_Mutation_p.E1038G|AMBRA1_uc001ncx.2_Missense_Mutation_p.E1097G	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	1157					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CATGCCGCCCTCCGCCATCAG	0.602												
ARHGAP1	392	broad.mit.edu	37	11	46702288	46702288	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:46702288G>A	uc001ndd.2	-	8	714	c.645C>T	c.(643-645)GAC>GAT	p.D215D		NM_004308	NP_004299	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	215	CRAL-TRIO.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			skin(1)	1		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		ATTTCAGGAAGTCGTCATATC	0.607												
MADD	8567	broad.mit.edu	37	11	47336824	47336824	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:47336824G>T	uc001ner.1	+	30	4514	c.4323G>T	c.(4321-4323)CAG>CAT	p.Q1441H	MADD_uc001neq.2_Missense_Mutation_p.Q1382H|MADD_uc001nev.1_Missense_Mutation_p.Q1339H|MADD_uc001nes.1_Missense_Mutation_p.Q1359H|MADD_uc001net.1_Missense_Mutation_p.Q1402H|MADD_uc009yln.1_Missense_Mutation_p.Q1335H|MADD_uc001neu.1_Missense_Mutation_p.Q1339H|MADD_uc001nex.2_Missense_Mutation_p.Q1441H|MADD_uc001nez.2_Missense_Mutation_p.Q1338H|MADD_uc001new.2_Missense_Mutation_p.Q1381H|MADD_uc009ylo.2_Missense_Mutation_p.Q355H	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	1441					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		TGAAGAAGCAGACATTTGTGG	0.483												
PSMC3	5702	broad.mit.edu	37	11	47441881	47441881	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:47441881A>G	uc001nfh.2	-	10	1255	c.1061T>C	c.(1060-1062)TTC>TCC	p.F354S	PSMC3_uc009ylr.1_Missense_Mutation_p.F312S	NM_002804	NP_002795	P17980	PRS6A_HUMAN	proteasome 26S ATPase subunit 3	354					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|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			ovary(4)	4				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGGCATCGGGAACTCTATCTT	0.602												
AGBL2	79841	broad.mit.edu	37	11	47711972	47711972	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:47711972T>C	uc001ngg.2	-	9	1387	c.1287A>G	c.(1285-1287)CTA>CTG	p.L429L	AGBL2_uc001ngf.2_RNA|AGBL2_uc010rhq.1_Silent_p.L391L|AGBL2_uc001ngh.1_Silent_p.L373L	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	429					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2						TATTTCCTGCTAGGCTCCTGC	0.493												
OR4A5	81318	broad.mit.edu	37	11	51412117	51412117	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:51412117T>C	uc001nhi.1	-	1	279	c.279A>G	c.(277-279)CAA>CAG	p.Q93Q		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	93	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)				CCATGCAACCTTGGAAGGAAA	0.448												
OR5L1	219437	broad.mit.edu	37	11	55579099	55579099	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:55579099T>C	uc001nhw.1	+	1	157	c.157T>C	c.(157-159)TCT>CCT	p.S53P		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	53	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)				TCAGGTCAGCTCTCGGCTCCA	0.473												
DTX4	23220	broad.mit.edu	37	11	58956242	58956242	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:58956242T>G	uc001nns.2	+	3	1227	c.970T>G	c.(970-972)TCC>GCC	p.S324A	DTX4_uc001nnr.2_Missense_Mutation_p.S218A	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	deltex 4 homolog	324					Notch signaling pathway	cytoplasm	zinc ion binding			lung(2)|central_nervous_system(1)	3		all_epithelial(135;0.125)				CCTAAATGGGTCCAGTCCTGT	0.453												
TMEM132A	54972	broad.mit.edu	37	11	60696229	60696229	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:60696229C>T	uc001nqj.2	+	4	856	c.663C>T	c.(661-663)TCC>TCT	p.S221S	TMEM132A_uc001nqi.2_Silent_p.S221S|TMEM132A_uc001nqk.2_Silent_p.S234S|TMEM132A_uc001nql.1_Silent_p.S234S	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	221	Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						GCTGTGGCTCCGGCGAGGAGA	0.697												
CD5	921	broad.mit.edu	37	11	60889125	60889125	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:60889125G>A	uc009ynk.2	+	6	951	c.848G>A	c.(847-849)AGC>AAC	p.S283N		NM_014207	NP_055022	P06127	CD5_HUMAN	CD5 molecule precursor	283	Extracellular (Potential).|SRCR 3.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			ovary(1)	1		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		GGGGGCAGCAGCATCTGTGAA	0.642												
DAGLA	747	broad.mit.edu	37	11	61511463	61511463	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:61511463C>T	uc001nsa.2	+	20	2742	c.2631C>T	c.(2629-2631)GAC>GAT	p.D877D		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	877	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		CGGCCAATGACGAGGAGGAAG	0.726												
RAB3IL1	5866	broad.mit.edu	37	11	61675603	61675603	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:61675603G>A	uc001nso.2	-	2	345	c.187C>T	c.(187-189)CGC>TGC	p.R63C	RAB3IL1_uc001nsp.2_Missense_Mutation_p.R110C	NM_013401	NP_037533	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	63							protein binding			skin(2)|central_nervous_system(1)	3						CTGCGCAGGCGCAACACGTCC	0.677												
EML3	256364	broad.mit.edu	37	11	62375291	62375291	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:62375291A>G	uc001ntu.1	-	11	1517	c.1209T>C	c.(1207-1209)AGT>AGC	p.S403S	EML3_uc001ntr.1_Silent_p.S375S|EML3_uc001nts.1_Silent_p.S375S|EML3_uc001ntt.1_Silent_p.S287S|EML3_uc010rly.1_Silent_p.S403S|EML3_uc009yny.1_Silent_p.S186S	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like	403	WD 3.					cytoplasm|microtubule	protein binding			ovary(1)	1						AGTCATTTGTACTCTGAAGGG	0.527												
PRDX5	25824	broad.mit.edu	37	11	64088156	64088156	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:64088156G>A	uc001nzu.2	+	3	449	c.330G>A	c.(328-330)GAG>GAA	p.E110E	PRDX5_uc001nzv.2_Intron|PRDX5_uc001nzw.2_Intron|PRDX5_uc001nzx.2_RNA	NM_012094	NP_036226	P30044	PRDX5_HUMAN	peroxiredoxin 5 isoform a precursor	110	Thioredoxin.				cell redox homeostasis|cellular response to reactive oxygen species|inflammatory response|negative regulation of apoptosis	cytosolic part|mitochondrion|peroxisome	caspase inhibitor activity|peroxidase activity|peroxiredoxin activity			breast(1)	1					Auranofin(DB00995)	GGTTTGTGGAGCAGGCTGAGG	0.592												
CCDC88B	283234	broad.mit.edu	37	11	64108903	64108903	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:64108903G>A	uc001nzy.2	+	6	502	c.458G>A	c.(457-459)CGG>CAG	p.R153Q	CCDC88B_uc009ypo.1_Missense_Mutation_p.R150Q|CCDC88B_uc001nzz.1_5'Flank	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88	153					microtubule cytoskeleton organization	cytoplasm	microtubule binding			ovary(3)|skin(1)	4						TGTGAGCACCGGGAACTCTTC	0.637												
ATG2A	23130	broad.mit.edu	37	11	64678326	64678326	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:64678326G>A	uc001obx.2	-	11	1682	c.1567C>T	c.(1567-1569)CTG>TTG	p.L523L		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	523							protein binding			ovary(1)|central_nervous_system(1)	2						AGACACTCCAGCACCTCCAGC	0.667												
SLC22A20	440044	broad.mit.edu	37	11	65000689	65000689	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:65000689T>C	uc010roc.1	+	8	1115	c.1112T>C	c.(1111-1113)CTG>CCG	p.L371P		NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN	solute carrier family 22, member 20	371	Extracellular (Potential).				ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)	1						AGCCTATACCTGGTGCAGGCC	0.597												
KDM2A	22992	broad.mit.edu	37	11	67010480	67010480	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:67010480A>G	uc001ojw.2	+	13	2344	c.1480A>G	c.(1480-1482)ATT>GTT	p.I494V	KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Missense_Mutation_p.I188V|KDM2A_uc010rpn.1_Missense_Mutation_p.I55V|KDM2A_uc001ojz.1_5'Flank	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	494					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(4)|lung(3)|breast(1)|skin(1)	9						CTACCCTTAGATTTTGCTGGA	0.483												
ANKRD13D	338692	broad.mit.edu	37	11	67068551	67068551	+	Silent	SNP	C	C	T	rs148986056	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:67068551C>T	uc001okc.1	+	12	1414	c.903C>T	c.(901-903)AAC>AAT	p.N301N	ANKRD13D_uc001okd.1_Silent_p.N388N|ANKRD13D_uc001oke.1_Silent_p.N301N|ANKRD13D_uc001okg.1_Silent_p.N84N|ANKRD13D_uc001okh.1_Silent_p.N84N|ANKRD13D_uc001oki.1_Silent_p.N38N|SSH3_uc001okj.2_5'Flank|SSH3_uc001okk.2_5'Flank|SSH3_uc001okl.2_5'Flank	NM_207354	NP_997237	Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	301										ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCATCAGCAACGCTCACTTTG	0.607												
CARNS1	57571	broad.mit.edu	37	11	67190978	67190978	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:67190978G>A	uc009yrp.2	+	9	1842	c.1390G>A	c.(1390-1392)GGC>AGC	p.G464S	PPP1CA_uc001okx.1_5'Flank|CARNS1_uc001olc.3_Missense_Mutation_p.G603S	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	ATP-grasp domain containing 1	464					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding				0						GCGGGCTCGCGGCCTCAAGCT	0.612												
TBX10	347853	broad.mit.edu	37	11	67399140	67399140	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:67399140G>A	uc001omp.2	-	8	1182	c.1094C>T	c.(1093-1095)CCA>CTA	p.P365L	NUDT8_uc001omn.2_5'Flank|NUDT8_uc001omo.1_5'Flank	NM_005995	NP_005986	O75333	TBX10_HUMAN	T-box 10	365					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						CAGCCCAGCTGGGAGAGGCAG	0.677												
SAPS3	55291	broad.mit.edu	37	11	68370949	68370949	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:68370949G>A	uc001onw.2	+	22	2706	c.2439G>A	c.(2437-2439)GCG>GCA	p.A813A	SAPS3_uc001onv.2_Silent_p.A813A|SAPS3_uc001ony.3_Silent_p.A784A|SAPS3_uc001onx.2_Silent_p.A807A|SAPS3_uc009ysh.2_Silent_p.A733A|SAPS3_uc001onu.2_Silent_p.A733A|SAPS3_uc010rqc.1_Silent_p.A581A|SAPS3_uc010rqd.1_Silent_p.A496A|SAPS3_uc001onz.2_Silent_p.A141A|SAPS3_uc001ooa.2_Silent_p.A263A	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	SAPS domain family, member 3 isoform 6	813					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding				0			LUAD - Lung adenocarcinoma(13;0.102)			CAGAGACTGCGGTCTTCAAAA	0.463												
DNAJB13	374407	broad.mit.edu	37	11	73677268	73677268	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:73677268G>A	uc001ouo.2	+	5	1329	c.578G>A	c.(577-579)CGC>CAC	p.R193H		NM_153614	NP_705842	P59910	DJB13_HUMAN	testis spermatogenesis apoptosis-related protein	193					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding				0	Breast(11;7.42e-05)					CAGGGCACACGCATCACCTTT	0.552												
SERPINH1	871	broad.mit.edu	37	11	75282937	75282937	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:75282937G>A	uc001owr.2	+	5	1295	c.1066G>A	c.(1066-1068)GCC>ACC	p.A356T	SERPINH1_uc009yug.2_Missense_Mutation_p.A356T|SERPINH1_uc001ows.2_Missense_Mutation_p.A356T|SERPINH1_uc001owt.2_Missense_Mutation_p.A139T	NM_001235	NP_001226	P50454	SERPH_HUMAN	serine (or cysteine) proteinase inhibitor, clade	356					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			ovary(2)	2	Ovarian(111;0.11)					CCACGCCACCGCCTTTGAGTT	0.602												
RSF1	51773	broad.mit.edu	37	11	77378348	77378348	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:77378348C>T	uc001oyn.2	-	16	4060	c.3940G>A	c.(3940-3942)GCT>ACT	p.A1314T	RSF1_uc001oym.2_Missense_Mutation_p.A1062T	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1314					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TCTCCATGAGCATTGTCACAA	0.537												
RSF1	51773	broad.mit.edu	37	11	77394826	77394826	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:77394826T>C	uc001oyn.2	-	11	3114	c.2994A>G	c.(2992-2994)AAA>AAG	p.K998K	RSF1_uc001oym.2_Silent_p.K746K	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	998	Potential.				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TTTTTGAATCTTTTTTCTTTT	0.338												
FAM181B	220382	broad.mit.edu	37	11	82444597	82444597	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:82444597C>T	uc001ozp.2	-	1	310	c.175G>A	c.(175-177)GTG>ATG	p.V59M		NM_175885	NP_787081	A6NEQ2	F181B_HUMAN	hypothetical protein LOC220382	59										large_intestine(1)	1						GCCTCGCGCACGTCCCCTCCT	0.662												
DLG2	1740	broad.mit.edu	37	11	83770417	83770417	+	Missense_Mutation	SNP	C	C	T	rs150156552		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:83770417C>T	uc001paj.2	-	6	848	c.545G>A	c.(544-546)CGT>CAT	p.R182H	DLG2_uc001pai.2_Missense_Mutation_p.R131H|DLG2_uc010rsy.1_Missense_Mutation_p.R149H|DLG2_uc010rsz.1_Missense_Mutation_p.R182H|DLG2_uc010rta.1_Missense_Mutation_p.R182H|DLG2_uc001pak.2_Missense_Mutation_p.R287H|DLG2_uc010rtb.1_Missense_Mutation_p.R149H|DLG2_uc001pal.1_Missense_Mutation_p.R182H|DLG2_uc001pam.1_Missense_Mutation_p.R221H	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	182	PDZ 1.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCGTCTTCTACGCACATACAG	0.453												
TMEM126A	84233	broad.mit.edu	37	11	85367435	85367435	+	Silent	SNP	T	T	C	rs11556796		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:85367435T>C	uc001par.2	+	5	574	c.478T>C	c.(478-480)TTA>CTA	p.L160L		NM_032273	NP_115649	Q9H061	T126A_HUMAN	transmembrane protein 126A	160						integral to membrane|mitochondrion				ovary(2)	2		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TAGAAAGATGTTATTTCCTAT	0.368												
CCDC89	220388	broad.mit.edu	37	11	85396776	85396776	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:85396776T>G	uc001pau.1	-	1	545	c.398A>C	c.(397-399)CAC>CCC	p.H133P		NM_152723	NP_689936	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	133	Potential.					cytoplasm|nucleus					0		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CATCAACTCGTGGTTGGCTGC	0.522												
PICALM	8301	broad.mit.edu	37	11	85694973	85694973	+	Silent	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:85694973G>T	uc001pbm.2	-	14	1738	c.1452C>A	c.(1450-1452)GGC>GGA	p.G484G	PICALM_uc001pbl.2_Silent_p.G434G|PICALM_uc001pbn.2_Silent_p.G477G|PICALM_uc010rtl.1_Silent_p.G383G|PICALM_uc001pbk.2_5'Flank|PICALM_uc010rtk.1_Silent_p.G66G|PICALM_uc001pbo.1_Silent_p.G116G	NM_007166	NP_009097	Q13492	PICAL_HUMAN	phosphatidylinositol-binding clathrin assembly	484					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			urinary_tract(1)|ovary(1)	2		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				CAACATTAAGGCCAGCTGAAG	0.323			T	MLLT10|MLL	TALL|AML|							
FZD4	8322	broad.mit.edu	37	11	86663069	86663069	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:86663069G>A	uc001pce.2	-	2	1035	c.729C>T	c.(727-729)ATC>ATT	p.I243I	PRSS23_uc001pcc.1_RNA	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	frizzled 4 precursor	243	Helical; Name=1; (Potential).				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			large_intestine(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TAGAAGAATCGATCAGGAAGG	0.468												
CTSC	1075	broad.mit.edu	37	11	88068203	88068203	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:88068203C>T	uc001pck.3	-	2	321	c.220G>A	c.(220-222)GCA>ACA	p.A74T	CTSC_uc001pcl.3_5'UTR|CTSC_uc001pcm.3_Missense_Mutation_p.A74T|CTSC_uc001pcn.3_Missense_Mutation_p.A74T	NM_001814	NP_001805	P53634	CATC_HUMAN	cathepsin C isoform a preproprotein	74			Missing (in PLS).		immune response	lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCATCATATGCTGTATCCAGC	0.348												
GRM5	2915	broad.mit.edu	37	11	88258487	88258487	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:88258487T>G	uc001pcq.2	-	8	2916	c.2716A>C	c.(2716-2718)ACA>CCA	p.T906P	GRM5_uc009yvm.2_Intron	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	906	Cytoplasmic (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTGCTCATTGTTGCTCTCCCA	0.507												
NOX4	50507	broad.mit.edu	37	11	89173856	89173856	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:89173856C>A	uc001pct.2	-	6	714	c.475G>T	c.(475-477)GTT>TTT	p.V159F	NOX4_uc009yvr.2_Missense_Mutation_p.V134F|NOX4_uc001pcu.2_Missense_Mutation_p.V85F|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Missense_Mutation_p.V159F|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Intron|NOX4_uc009yvp.2_Missense_Mutation_p.V159F|NOX4_uc010rtv.1_Missense_Mutation_p.V135F|NOX4_uc009yvq.2_Missense_Mutation_p.V135F|NOX4_uc009yvs.1_RNA	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4 isoform a	159	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)				AACAACTTACCAGTTGTGAAG	0.234												
FAT3	120114	broad.mit.edu	37	11	92577541	92577541	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:92577541C>T	uc001pdj.3	+	18	11025	c.11008C>T	c.(11008-11010)CGG>TGG	p.R3670W	FAT3_uc001pdi.3_Missense_Mutation_p.R110W	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3670	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCATGGGTTCCGGCGCACCCT	0.582										TCGA Ovarian(4;0.039)		
GPR83	10888	broad.mit.edu	37	11	94113477	94113477	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:94113477C>T	uc001pet.2	-	4	1282	c.1110G>A	c.(1108-1110)CAG>CAA	p.Q370Q		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83 precursor	370	Cytoplasmic (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			central_nervous_system(2)|ovary(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCCTGTCCTCCTGAGGCTTGG	0.547												
JRKL	8690	broad.mit.edu	37	11	96124882	96124882	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:96124882T>C	uc009ywu.2	+	2	1321	c.1069T>C	c.(1069-1071)TGG>CGG	p.W357R	CCDC82_uc001pfx.3_5'Flank|CCDC82_uc009ywr.2_5'Flank|CCDC82_uc009ywt.1_5'Flank|JRKL_uc001pfy.2_Missense_Mutation_p.W357R	NM_003772	NP_003763	Q9Y4A0	JERKL_HUMAN	jerky homolog-like	357	DDE.				central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		GAAATCATTCTGGAAGAAGCT	0.358												
PGR	5241	broad.mit.edu	37	11	100996890	100996890	+	Splice_Site	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:100996890C>T	uc001pgh.2	-	2	2381	c.1638_splice	c.e2-1	p.R546_splice	PGR_uc001pgi.2_Splice_Site_p.R546_splice|PGR_uc009yww.1_Splice_Site|PGR_uc001pgj.2_Splice_Site|PGR_uc009ywx.1_Splice_Site|uc010rum.1_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor						cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TGAATCCGGCCTTGAAATGCA	0.388												
TRPC6	7225	broad.mit.edu	37	11	101362460	101362460	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:101362460T>G	uc001pgk.3	-	3	1380	c.955A>C	c.(955-957)AAA>CAA	p.K319Q	TRPC6_uc009ywy.2_Intron|TRPC6_uc009ywz.1_Missense_Mutation_p.K319Q	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	319	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GACAGTTTTTTGTAGTCATTC	0.373												
BIRC3	330	broad.mit.edu	37	11	102196012	102196012	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:102196012C>T	uc001pgx.2	+	3	994	c.772C>T	c.(772-774)CGC>TGC	p.R258C		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	baculoviral IAP repeat-containing protein 3	258	BIR 3.				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|skin(1)	4	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		ACATGCAGCCCGCTTTAAAAC	0.408			T	MALT1	MALT							
DYNC2H1	79659	broad.mit.edu	37	11	103070064	103070064	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:103070064T>C	uc001pho.2	+	49	8091	c.7947T>C	c.(7945-7947)GGT>GGC	p.G2649G	DYNC2H1_uc001phn.1_Silent_p.G2649G|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2649	AAA 4 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCCCTGGAGGTTCACTTCTAT	0.433												
DDI1	414301	broad.mit.edu	37	11	103908639	103908639	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:103908639G>T	uc001phr.2	+	1	1332	c.1089G>T	c.(1087-1089)GAG>GAT	p.E363D	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	363					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TTCTTCCTGAGGGAGAGTTGC	0.458												
ALKBH8	91801	broad.mit.edu	37	11	107427686	107427686	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:107427686C>T	uc010rvr.1	-	3	248	c.173G>A	c.(172-174)CGG>CAG	p.R58Q	ALKBH8_uc010rvq.1_5'UTR|ALKBH8_uc009yxp.2_Missense_Mutation_p.R58Q|ALKBH8_uc001pjl.2_RNA	NM_138775	NP_620130	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8	58	RRM.				response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity				0		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		CAGCTGGTTCCGACTCACACC	0.433												
EXPH5	23086	broad.mit.edu	37	11	108383615	108383615	+	Silent	SNP	C	C	T	rs114840330	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:108383615C>T	uc001pkk.2	-	6	2730	c.2619G>A	c.(2617-2619)TCG>TCA	p.S873S	EXPH5_uc010rvy.1_Silent_p.S685S|EXPH5_uc010rvz.1_Silent_p.S717S|EXPH5_uc010rwa.1_Silent_p.S797S	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	873					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AAGAATCACACGAGGTCTTGT	0.413												
FDXACB1	91893	broad.mit.edu	37	11	111747699	111747699	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:111747699G>A	uc001pmc.3	-	3	663	c.366C>T	c.(364-366)CAC>CAT	p.H122H	ALG9_uc010rwo.1_Translation_Start_Site|FDXACB1_uc009yyi.2_Translation_Start_Site|C11orf1_uc001pmd.2_5'Flank	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain	122					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0						ATAATGCCACGTGGACTTCTC	0.493												
ZBTB16	7704	broad.mit.edu	37	11	114112978	114112978	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:114112978G>A	uc001pop.2	+	5	1807	c.1543G>A	c.(1543-1545)GTG>ATG	p.V515M	ZBTB16_uc001poq.2_Missense_Mutation_p.V515M	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	515					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CCACGCGGGCGTGCGCAGCTA	0.622												
APOC3	345	broad.mit.edu	37	11	116701502	116701502	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:116701502C>T	uc001ppt.1	+	3	115	c.69C>T	c.(67-69)GCC>GCT	p.A23A		NM_000040	NP_000031	P02656	APOC3_HUMAN	apolipoprotein C-III precursor	23					Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly	chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding				0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CTTCAGAGGCCGAGGATGCCT	0.627												
PAFAH1B2	5049	broad.mit.edu	37	11	117030719	117030719	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:117030719C>T	uc001pqe.1	+	3	253	c.151C>T	c.(151-153)CAG>TAG	p.Q51*	PAFAH1B2_uc009yzk.1_Nonsense_Mutation_p.Q51*|PAFAH1B2_uc009yzl.1_Nonsense_Mutation_p.Q51*|PAFAH1B2_uc009yzm.2_RNA|PAFAH1B2_uc009yzn.2_RNA|PAFAH1B2_uc009yzj.1_Intron	NM_002572	NP_002563	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase,	51					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity			kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		CTCCATGGTGCAGTTAATGCA	0.393			T	IGH@	MLCLS							
CEP164	22897	broad.mit.edu	37	11	117241945	117241945	+	Silent	SNP	A	A	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:117241945A>T	uc001prc.2	+	9	1062	c.915A>T	c.(913-915)GGA>GGT	p.G305G	CEP164_uc001prb.2_Silent_p.G305G|CEP164_uc010rxk.1_Silent_p.G279G|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	305					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGGGAAGTGGAGCAAGACCTG	0.557												
DSCAML1	57453	broad.mit.edu	37	11	117391893	117391893	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:117391893T>C	uc001prh.1	-	6	1347	c.1345A>G	c.(1345-1347)ACC>GCC	p.T449A	DSCAML1_uc001pri.1_Missense_Mutation_p.T253A	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	389	Extracellular (Potential).|Ig-like C2-type 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCCTTGCGGGTAGCGAAGCAC	0.657												
AMICA1	120425	broad.mit.edu	37	11	118081424	118081424	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:118081424C>T	uc001psk.2	-	4	376	c.202G>A	c.(202-204)GAA>AAA	p.E68K	AMICA1_uc001psh.2_Missense_Mutation_p.E29K|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Missense_Mutation_p.E58K|AMICA1_uc001psj.2_Missense_Mutation_p.E68K|AMICA1_uc010rxw.1_Missense_Mutation_p.E29K|AMICA1_uc010rxx.1_Missense_Mutation_p.E68K|AMICA1_uc001psl.1_Missense_Mutation_p.E24K	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen	68	Ig-like V-type 1.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				ovary(1)	1	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGCACATATTCGTCCTGAAGG	0.498												
MPZL3	196264	broad.mit.edu	37	11	118110974	118110974	+	Silent	SNP	A	A	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:118110974A>T	uc001psm.2	-	2	194	c.192T>A	c.(190-192)CTT>CTA	p.L64L	MPZL3_uc010rxy.1_Silent_p.L52L|MPZL3_uc010rxz.1_RNA|MPZL3_uc009yzy.2_Intron	NM_198275	NP_938016	Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3 precursor	64	Ig-like V-type.				cell adhesion	integral to membrane					0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AGTCTATAGTAAGTTTGTCAG	0.433												
MLL	4297	broad.mit.edu	37	11	118374596	118374596	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:118374596A>G	uc001pta.2	+	27	8003	c.7980A>G	c.(7978-7980)TCA>TCG	p.S2660S	MLL_uc001ptb.2_Silent_p.S2663S	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2660					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GCAAGAGATCAGCTGAAGGAC	0.453			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL							
TTC36	143941	broad.mit.edu	37	11	118399486	118399486	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:118399486G>A	uc001ptg.1	+	2	287	c.287G>A	c.(286-288)CGA>CAA	p.R96Q	TTC36_uc010ryb.1_RNA|TTC36_uc010ryc.1_Missense_Mutation_p.R37Q|TMEM25_uc010ryd.1_5'Flank|TMEM25_uc001ptk.3_5'Flank|TMEM25_uc010rye.1_5'Flank|TMEM25_uc001pth.2_5'Flank|TMEM25_uc009zad.2_5'Flank|TMEM25_uc001pti.2_5'Flank|TMEM25_uc010ryf.1_5'Flank|TMEM25_uc001ptl.2_5'Flank|TMEM25_uc001ptm.2_5'Flank	NM_001080441	NP_001073910	A6NLP5	TTC36_HUMAN	tetratricopeptide repeat domain 36	96	TPR 2.						binding				0						CAGGCCCGGCGACTCCAGGGA	0.587												
CBL	867	broad.mit.edu	37	11	119156153	119156153	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:119156153T>C	uc001pwe.2	+	11	1956	c.1818T>C	c.(1816-1818)AGT>AGC	p.S606S		NM_005188	NP_005179	P22681	CBL_HUMAN	Cas-Br-M (murine) ecotropic retroviral	606	Pro-rich.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CAAGTTCCAGTGATCCCTGGA	0.562									CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome			
TECTA	7007	broad.mit.edu	37	11	121037433	121037433	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:121037433G>T	uc010rzo.1	+	17	5530	c.5530G>T	c.(5530-5532)GAT>TAT	p.D1844Y		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1844	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CGAGGGGGAAGATTTTATCTC	0.498												
TECTA	7007	broad.mit.edu	37	11	121038774	121038774	+	Silent	SNP	G	G	A	rs146930070		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:121038774G>A	uc010rzo.1	+	18	5598	c.5598G>A	c.(5596-5598)ACG>ACA	p.T1866T		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1866	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCAATGGCACGCATATCATGT	0.443												
OR10G7	390265	broad.mit.edu	37	11	123909354	123909354	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:123909354A>G	uc001pzq.1	-	1	355	c.355T>C	c.(355-357)TAT>CAT	p.Y119H		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G,	119	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TAGCGATCATAGGACATGACT	0.577												
VWA5A	4013	broad.mit.edu	37	11	124007961	124007961	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:124007961T>C	uc001pzu.2	+	15	2074	c.1865T>C	c.(1864-1866)ATA>ACA	p.I622T	VWA5A_uc001pzt.2_Missense_Mutation_p.I622T	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN	BCSC-1 isoform 1	622										upper_aerodigestive_tract(1)|ovary(1)	2						CCATTGAAGATAAAATGCCAA	0.418												
NFRKB	4798	broad.mit.edu	37	11	129745274	129745274	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:129745274G>A	uc001qfi.2	-	18	2033	c.1832C>T	c.(1831-1833)GCA>GTA	p.A611V	NFRKB_uc001qfg.2_Missense_Mutation_p.A636V|NFRKB_uc001qfh.2_Missense_Mutation_p.A634V|NFRKB_uc010sbw.1_Missense_Mutation_p.A621V|NFRKB_uc009zcr.2_5'Flank	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	611					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			ovary(3)	3	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GACATCTGGTGCAAGAAACTG	0.378												
KDM5A	5927	broad.mit.edu	37	12	420145	420145	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:420145G>A	uc001qif.1	-	21	3485	c.3122C>T	c.(3121-3123)CCG>CTG	p.P1041L	KDM5A_uc001qie.1_Missense_Mutation_p.P1041L|KDM5A_uc010sdn.1_Missense_Mutation_p.P1000L	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	1041					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3						TTCCACTTGCGGCAGTGCTTC	0.493			T 	NUP98	AML							
CCDC77	84318	broad.mit.edu	37	12	521059	521059	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:521059A>G	uc001qig.2	+	4	365	c.185A>G	c.(184-186)TAT>TGT	p.Y62C	CCDC77_uc009zdk.2_Missense_Mutation_p.Y30C|CCDC77_uc010sdp.1_Missense_Mutation_p.Y30C|CCDC77_uc010sdq.1_Missense_Mutation_p.Y30C	NM_032358	NP_115734	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77 isoform a	62	Potential.					centrosome				ovary(1)	1	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			CTGGAATATTATCAAAAGAAG	0.478												
B4GALNT3	283358	broad.mit.edu	37	12	662881	662881	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:662881G>T	uc001qii.1	+	14	1792	c.1792G>T	c.(1792-1794)GGC>TGC	p.G598C	B4GALNT3_uc001qij.1_Missense_Mutation_p.G501C|B4GALNT3_uc001qik.1_Missense_Mutation_p.G147C	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	beta	598	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			ovary(1)|skin(1)	2	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GGCGGCCGCAGGCCAGGAAGG	0.493												
RAD52	5893	broad.mit.edu	37	12	1025529	1025529	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:1025529C>T	uc001qis.1	-	9	960	c.846G>A	c.(844-846)CCG>CCA	p.P282P	RAD52_uc001qit.1_RNA|RAD52_uc010sdt.1_Silent_p.P205P|RAD52_uc001qiu.1_Silent_p.P282P|RAD52_uc001qiv.1_RNA|RAD52_uc001qiw.1_RNA|RAD52_uc010sdu.1_Missense_Mutation_p.V300I	NM_134424	NP_602296	P43351	RAD52_HUMAN	RAD52 homolog	282					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			TCTCAGCTGACGGCGTGGAGA	0.428								Homologous_recombination				
USP5	8078	broad.mit.edu	37	12	6972488	6972488	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:6972488A>G	uc001qri.3	+	15	1960	c.1901A>G	c.(1900-1902)TAT>TGT	p.Y634C	USP5_uc001qrh.3_Intron	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 isoform 1	634					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			lung(2)|breast(1)|skin(1)	4						CTTGGTTTCTATGGCAACGAA	0.592												
PTPN6	5777	broad.mit.edu	37	12	7064594	7064594	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:7064594C>A	uc001qsb.2	+	6	935	c.693C>A	c.(691-693)AAC>AAA	p.N231K	PTPN6_uc001qsa.1_Missense_Mutation_p.N233K|PTPN6_uc010sfr.1_Missense_Mutation_p.N192K|PTPN6_uc009zfl.1_Missense_Mutation_p.N231K|PTPN6_uc010sfs.1_Missense_Mutation_p.N219K	NM_002831	NP_002822	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type	231					apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)	1						TGGAACTGAACAAGAAGCAGG	0.592												
C1RL	51279	broad.mit.edu	37	12	7249730	7249730	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:7249730G>A	uc001qsn.2	-	6	738	c.721C>T	c.(721-723)CAG>TAG	p.Q241*	C1RL_uc009zft.2_Silent_p.P256P	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	241					complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			pancreas(1)	1						GTCTGATTCTGGGCAATGGGG	0.622												
GDF3	9573	broad.mit.edu	37	12	7848094	7848094	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:7848094G>A	uc001qte.2	-	1	267	c.231C>T	c.(229-231)GGC>GGT	p.G77G		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	growth differentiation factor 3 precursor	77					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			skin(3)|ovary(1)|lung(1)|central_nervous_system(1)	6						TCCCGCGGACGCCCAGCTCCT	0.498												
CLEC4A	50856	broad.mit.edu	37	12	8290779	8290779	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:8290779G>A	uc001qtz.1	+	6	857	c.610G>A	c.(610-612)GTT>ATT	p.V204I	CLEC4A_uc009zga.1_Missense_Mutation_p.V165I|CLEC4A_uc001qub.1_Missense_Mutation_p.V171I|CLEC4A_uc001quc.1_Missense_Mutation_p.V132I|CLEC4A_uc009zgb.1_3'UTR	NM_016184	NP_057268	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A isoform	204	Extracellular (Potential).|C-type lectin.				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity				0				Kidney(36;0.0915)		TGAGCGCTGCGTTGTGCTAAA	0.438												
LOH12CR1	118426	broad.mit.edu	37	12	12514227	12514227	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:12514227A>G	uc001ral.2	+	2	512	c.146A>G	c.(145-147)AAC>AGC	p.N49S	LOH12CR1_uc009zhu.2_Intron	NM_058169	NP_477517	Q969J3	L12R1_HUMAN	LOH1CR12	49										ovary(1)	1		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		AACGTCAGCAACGATCCCGAT	0.468												
H2AFJ	55766	broad.mit.edu	37	12	14927470	14927470	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:14927470G>A	uc009zia.2	+	1	201	c.66G>A	c.(64-66)GCG>GCA	p.A22A	H2AFJ_uc001rch.3_RNA	NM_177925	NP_808760	Q9BTM1	H2AJ_HUMAN	H2A histone family, member J	22					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)	1						CCTCCCGCGCGGGCCTGCAGT	0.677												
ITPR2	3709	broad.mit.edu	37	12	26568326	26568326	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:26568326C>T	uc001rhg.2	-	51	7633	c.7216G>A	c.(7216-7218)GTC>ATC	p.V2406I	ITPR2_uc009zjg.1_Missense_Mutation_p.V557I	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2406	Helical; (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					AACAGGTAGACGAGGATGAGA	0.413												
FGD4	121512	broad.mit.edu	37	12	32760948	32760948	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:32760948C>T	uc001rkz.2	+	8	1528	c.1051C>T	c.(1051-1053)CGG>TGG	p.R351W	FGD4_uc001rlc.2_Missense_Mutation_p.R436W|FGD4_uc001rky.2_Missense_Mutation_p.R103W|FGD4_uc001rla.2_Missense_Mutation_p.R7W|FGD4_uc010ske.1_Missense_Mutation_p.R463W|FGD4_uc001rlb.1_RNA	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	351	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					ACCTGTTCAGCGGATTCCCCG	0.383												
PKP2	5318	broad.mit.edu	37	12	33031126	33031126	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:33031126C>T	uc001rlj.3	-	3	803	c.688G>A	c.(688-690)GTT>ATT	p.V230I	PKP2_uc001rlk.3_Missense_Mutation_p.V230I|PKP2_uc010skj.1_Missense_Mutation_p.V230I	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	230					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTGTCAAAAACGGTGTCGCTA	0.602												
C12orf40	283461	broad.mit.edu	37	12	40041751	40041751	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:40041751T>G	uc001rmc.2	+	6	709	c.542T>G	c.(541-543)CTT>CGT	p.L181R	C12orf40_uc009zjv.1_RNA	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	hypothetical protein LOC283461	181										ovary(6)	6						CCTCAGAAACTTGCATATGAA	0.303												
RAPGEF3	10411	broad.mit.edu	37	12	48134094	48134094	+	Silent	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:48134094G>T	uc009zkp.2	-	21	2630	c.2190C>A	c.(2188-2190)ACC>ACA	p.T730T	uc001rpv.2_RNA|RAPGEF3_uc001rpw.2_Silent_p.T65T|RAPGEF3_uc001rpx.2_Silent_p.T187T|RAPGEF3_uc010sln.1_Silent_p.T227T|RAPGEF3_uc001rpy.2_RNA|RAPGEF3_uc009zkq.2_Silent_p.T730T|RAPGEF3_uc001rpz.3_Silent_p.T772T	NM_001098532	NP_001092002	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor 3 isoform	730					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			lung(2)|skin(1)|pancreas(1)	4	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		TTACCTCCCAGGTGTGGGCTA	0.627												
COL2A1	1280	broad.mit.edu	37	12	48391986	48391986	+	Splice_Site	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:48391986T>C	uc001rqu.2	-	4	491	c.310_splice	c.e4-1	p.G104_splice	COL2A1_uc001rqv.2_Splice_Site_p.G35_splice	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor						axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TTTCTGTCCCTGAAACATGAA	0.483												
ANP32D	23519	broad.mit.edu	37	12	48866788	48866788	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:48866788A>G	uc010slt.1	+	1	341	c.341A>G	c.(340-342)AAC>AGC	p.N114S		NM_012404	NP_036536	O95626	AN32D_HUMAN	acidic nuclear phosphoprotein 32D	114	LRR 5.									ovary(1)|central_nervous_system(1)	2						AAGTTAGAAAACCTCGAGAGC	0.413												
OR8S1	341568	broad.mit.edu	37	12	48921860	48921860	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:48921860C>T	uc010slu.1	+	2	1054	c.1054C>T	c.(1054-1056)CGC>TGC	p.R352C		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S,	352	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						CTCCGCGCTGCGCGCGGCGCC	0.662												
DNAJC22	79962	broad.mit.edu	37	12	49742913	49742913	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:49742913A>G	uc001rua.2	+	2	659	c.258A>G	c.(256-258)ATA>ATG	p.I86M	DNAJC22_uc001rub.2_Missense_Mutation_p.I86M	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	86	Helical; (Potential).				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			ovary(1)	1						CCCAGGTGATAGTTGGCATCT	0.552												
NCKAP5L	57701	broad.mit.edu	37	12	50188924	50188924	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:50188924C>T	uc009zlk.2	-	8	2921	c.2719G>A	c.(2719-2721)GCC>ACC	p.A907T	NCKAP5L_uc001rvc.3_Missense_Mutation_p.A111T|NCKAP5L_uc001rvb.2_Missense_Mutation_p.A500T	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	903										central_nervous_system(1)	1						TTGACCTCGGCGCCAGGGGCT	0.647												
NCKAP5L	57701	broad.mit.edu	37	12	50190190	50190190	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:50190190G>A	uc009zlk.2	-	8	1655	c.1453C>T	c.(1453-1455)CGA>TGA	p.R485*	NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_Nonsense_Mutation_p.R78*	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	481	Pro-rich.									central_nervous_system(1)	1						CAGGGGATTCGCGAGTTCCGG	0.662												
TFCP2	7024	broad.mit.edu	37	12	51492670	51492670	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:51492670T>C	uc001rxw.2	-	13	1767	c.1308A>G	c.(1306-1308)ACA>ACG	p.T436T	TFCP2_uc001rxv.1_Silent_p.T436T|TFCP2_uc009zlx.1_Silent_p.T385T|TFCP2_uc001rxx.2_Silent_p.T358T|TFCP2_uc009zly.1_Silent_p.T338T	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	transcription factor CP2	436					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						ATTCAACAGCTGTTAGTTCTT	0.423												
SLC4A8	9498	broad.mit.edu	37	12	51865289	51865289	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:51865289G>A	uc001rys.1	+	14	2055	c.1877G>A	c.(1876-1878)AGC>AAC	p.S626N	SLC4A8_uc010sni.1_Missense_Mutation_p.S573N|SLC4A8_uc001rym.2_Missense_Mutation_p.S573N|SLC4A8_uc001ryn.2_Missense_Mutation_p.S573N|SLC4A8_uc001ryo.2_Missense_Mutation_p.S573N|SLC4A8_uc010snj.1_Missense_Mutation_p.S653N|SLC4A8_uc001ryq.3_Missense_Mutation_p.S626N|SLC4A8_uc001ryr.2_Missense_Mutation_p.S626N|SLC4A8_uc010snk.1_Missense_Mutation_p.S573N	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate	626	Extracellular (Potential).				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			ovary(3)|pancreas(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.15)		CACATGCACAGCCAGCTGGAC	0.413												
KRT85	3891	broad.mit.edu	37	12	52758133	52758133	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:52758133G>A	uc001sag.2	-	3	767	c.647C>T	c.(646-648)GCC>GTC	p.A216V		NM_002283	NP_002274	P78386	KRT85_HUMAN	keratin 85	216	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)		GGCTCTCAGGGCCACCTCCTC	0.562												
KRT72	140807	broad.mit.edu	37	12	52981585	52981585	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:52981585G>A	uc001sar.2	-	7	1226	c.1140C>T	c.(1138-1140)TGC>TGT	p.C380C	KRT72_uc001saq.2_Silent_p.C380C|KRT72_uc010sns.1_Silent_p.C338C|KRT72_uc010snt.1_Silent_p.C192C	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN	keratin 72 isoform 1	380	Coil 2.|Rod.					keratin filament	structural molecule activity			ovary(5)|pancreas(1)	6				BRCA - Breast invasive adenocarcinoma(357;0.195)		CTTTCAGGGCGCAGTCCCCCC	0.637												
KRT2	3849	broad.mit.edu	37	12	53045454	53045454	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:53045454C>T	uc001sat.2	-	1	506	c.473G>A	c.(472-474)AGC>AAC	p.S158N		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	158	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)		CTGCAGGAGGCTCTGGTTGAC	0.458												
CSAD	51380	broad.mit.edu	37	12	53554090	53554090	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:53554090C>T	uc001sby.2	-	13	1106	c.980G>A	c.(979-981)CGC>CAC	p.R327H	CSAD_uc001sbw.2_Missense_Mutation_p.R180H|CSAD_uc009zmt.2_Missense_Mutation_p.R109H|CSAD_uc010snx.1_Missense_Mutation_p.R354H|CSAD_uc001sbz.2_Missense_Mutation_p.R327H|CSAD_uc009zmu.2_Missense_Mutation_p.R180H|CSAD_uc001sca.3_RNA	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	327					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			ovary(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CCCATGGCAGCGCTTGAGCAG	0.607									Hereditary_Prostate_Cancer			
PFDN5	5204	broad.mit.edu	37	12	53691936	53691936	+	Splice_Site	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:53691936T>C	uc001scl.2	+	5	505	c.388_splice	c.e5+2	p.A130_splice	PFDN5_uc001scm.2_Splice_Site_p.A85_splice|PFDN5_uc001scn.2_Splice_Site|PFDN5_uc001sco.2_Splice_Site|C12orf10_uc010sof.1_5'Flank|C12orf10_uc001scp.3_5'Flank|C12orf10_uc009zmx.2_5'Flank|C12orf10_uc001scq.3_5'Flank	NM_002624	NP_002615	Q99471	PFD5_HUMAN	prefoldin subunit 5 isoform alpha						'de novo' posttranslational protein folding|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent	nucleus|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)	1						TGAAACAGGGTAAGTTTTTCC	0.468												
AMHR2	269	broad.mit.edu	37	12	53825046	53825046	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:53825046G>A	uc001scx.1	+	11	1589	c.1511G>A	c.(1510-1512)CGC>CAC	p.R504H	AMHR2_uc009zmy.1_3'UTR	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II isoform	504	Cytoplasmic (Potential).|Protein kinase.		R -> C (in PMDS2).		Mullerian duct regression		ATP binding|hormone binding|metal ion binding			ovary(1)|skin(1)	2					Adenosine triphosphate(DB00171)	GTACAGCAGCGCCTGGCTGCC	0.592									Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)			
KIAA0748	9840	broad.mit.edu	37	12	55356217	55356217	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:55356217C>T	uc001sgn.3	-	9	1575	c.1465G>A	c.(1465-1467)GAG>AAG	p.E489K	KIAA0748_uc001sgl.3_Missense_Mutation_p.E351K|KIAA0748_uc001sgm.3_Missense_Mutation_p.E236K|KIAA0748_uc010spb.1_Missense_Mutation_p.E236K|KIAA0748_uc010spc.1_Missense_Mutation_p.E351K|KIAA0748_uc010spd.1_Missense_Mutation_p.E489K|KIAA0748_uc001sgo.3_RNA	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	489										ovary(1)|central_nervous_system(1)	2						CCACTTACCTCCTCCAAGTCA	0.507												
DNAJC14	85406	broad.mit.edu	37	12	56221493	56221493	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:56221493A>G	uc001shx.1	-	2	1154	c.950T>C	c.(949-951)GTA>GCA	p.V317A	DNAJC14_uc001shu.1_Missense_Mutation_p.V317A|DNAJC14_uc009zob.1_Missense_Mutation_p.V317A|DNAJC14_uc001shy.1_Missense_Mutation_p.V317A	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	317	Helical; (Potential).				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						AAACAGTCCTACTCCACAGTA	0.527												
WIBG	84305	broad.mit.edu	37	12	56295983	56295983	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:56295983C>G	uc001sif.1	-	3	440	c.288G>C	c.(286-288)AAG>AAC	p.K96N	WIBG_uc001sie.1_Missense_Mutation_p.K95N	NM_032345	NP_115721	Q9BRP8	WIBG_HUMAN	within bgcn homolog isoform 1	96	Potential.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm	protein binding|ribosome binding|RNA binding				0						GCTGCCGCCTCTTCTCCTTTC	0.582												
ERBB3	2065	broad.mit.edu	37	12	56478854	56478854	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:56478854G>A	uc001sjh.2	+	3	503	c.310G>A	c.(310-312)GTG>ATG	p.V104M	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.V45M|ERBB3_uc001sjg.2_Missense_Mutation_p.V104M	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												
ERBB3	2065	broad.mit.edu	37	12	56482369	56482369	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:56482369C>A	uc001sjh.2	+	8	1110	c.917C>A	c.(916-918)CCT>CAT	p.P306H	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.P247H|ERBB3_uc001sji.2_5'UTR	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	306	Extracellular (Potential).				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			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AGGGCCTGTCCTCCTGACAAG	0.478												
STAT2	6773	broad.mit.edu	37	12	56749288	56749288	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:56749288G>T	uc001slc.2	-	5	488	c.410C>A	c.(409-411)CCT>CAT	p.P137H	STAT2_uc001sld.2_Missense_Mutation_p.P133H|STAT2_uc010sqn.1_Missense_Mutation_p.P133H	NM_005419	NP_005410	P52630	STAT2_HUMAN	signal transducer and activator of transcription	137					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						GCTCTCCACAGGTGTTTCGAG	0.468												
ATP5B	506	broad.mit.edu	37	12	57038606	57038606	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:57038606A>G	uc001slr.2	-	3	549	c.444T>C	c.(442-444)ATT>ATC	p.I148I	SNORD59B_uc001sls.1_5'Flank	NM_001686	NP_001677	P06576	ATPB_HUMAN	mitochondrial ATP synthase beta subunit	148					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)	1						TAGGTTCTCCAATGACATTCA	0.413												
GPR182	11318	broad.mit.edu	37	12	57389924	57389924	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:57389924C>G	uc001smk.2	+	2	1025	c.931C>G	c.(931-933)CTG>GTG	p.L311V	RDH16_uc010sqx.1_Intron	NM_007264	NP_009195	O15218	GP182_HUMAN	G protein-coupled receptor 182	311	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(1)	1						CTTCTCCATGCTGCACTGTGT	0.542												
LRP1	4035	broad.mit.edu	37	12	57548011	57548011	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:57548011G>A	uc001snd.2	+	7	1328	c.862G>A	c.(862-864)GAC>AAC	p.D288N	LRP1_uc001snc.1_Missense_Mutation_p.D288N	NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	288	Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GATGGCCATCGACTGGCTGAC	0.517												
R3HDM2	22864	broad.mit.edu	37	12	57674225	57674225	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:57674225T>C	uc009zpm.1	-	12	1253	c.1218A>G	c.(1216-1218)CAA>CAG	p.Q406Q	R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_Silent_p.Q67Q|R3HDM2_uc001snr.2_Silent_p.Q133Q|R3HDM2_uc001sns.2_Silent_p.Q406Q|R3HDM2_uc001snt.2_Silent_p.Q420Q|R3HDM2_uc009zpn.1_Silent_p.Q29Q	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	406	Gln-rich.					nucleus	nucleic acid binding			ovary(2)	2						gctgctgctgttgctgctgGG	0.478												
GLI1	2735	broad.mit.edu	37	12	57864151	57864151	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:57864151G>A	uc001snx.2	+	12	1706	c.1628G>A	c.(1627-1629)AGC>AAC	p.S543N	GLI1_uc009zpq.2_Missense_Mutation_p.S415N	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	543					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)			GAACGCCGCAGCAGCAGCTCC	0.612												
MBD6	114785	broad.mit.edu	37	12	57920920	57920920	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:57920920C>T	uc001soj.1	+	7	2216	c.1992C>T	c.(1990-1992)TTC>TTT	p.F664F	MBD6_uc001sok.1_Silent_p.F531F|MBD6_uc001sol.1_RNA	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	664	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4						CCCTACTTTTCCCCCCACTTT	0.647												
TBK1	29110	broad.mit.edu	37	12	64878159	64878159	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:64878159C>T	uc001ssc.1	+	9	1131	c.1069C>T	c.(1069-1071)CGA>TGA	p.R357*		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	357	Ubiquitin-like.				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1)	5				GBM - Glioblastoma multiforme(28;0.0386)		CTACGAAGGGCGACGCTTAGT	0.373												
RASSF3	283349	broad.mit.edu	37	12	65088630	65088630	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:65088630C>T	uc001ssd.2	+	5	775	c.655C>T	c.(655-657)CGC>TGC	p.R219C	RASSF3_uc009zqn.2_RNA|RASSF3_uc001sse.2_Missense_Mutation_p.R149C	NM_178169	NP_835463	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family	219	SARAH.				signal transduction	cytoplasm|microtubule	identical protein binding				0			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		CCTGAAGAGGCGCTACACAGC	0.562												
TMBIM4	51643	broad.mit.edu	37	12	66531769	66531769	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:66531769G>A	uc001stc.2	-	7	764	c.688C>T	c.(688-690)CGG>TGG	p.R230W	LLPH_uc010ssx.1_RNA|TMBIM4_uc001std.2_Missense_Mutation_p.R199W|TMBIM4_uc009zqr.2_Missense_Mutation_p.R277W|TMBIM4_uc001ste.2_RNA|TMBIM4_uc001stf.2_3'UTR|TMBIM4_uc009zqs.2_3'UTR	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	230						integral to membrane	protein binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(28;0.0745)		TCCAGAAACCGTAACAGGTGC	0.353												
GRIP1	23426	broad.mit.edu	37	12	66856867	66856867	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:66856867G>A	uc001stk.2	-	9	1120	c.879C>T	c.(877-879)GGC>GGT	p.G293G	GRIP1_uc010sta.1_Silent_p.G237G|GRIP1_uc001stj.2_Silent_p.G23G|GRIP1_uc001stl.1_Silent_p.G237G|GRIP1_uc001stm.2_Silent_p.G293G	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	293	PDZ 3.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CATGCAATGCGCCACATCTAC	0.468												
GRIP1	23426	broad.mit.edu	37	12	66909462	66909462	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:66909462T>C	uc001stk.2	-	7	902	c.661A>G	c.(661-663)AGT>GGT	p.S221G	GRIP1_uc010sta.1_Missense_Mutation_p.S165G|GRIP1_uc001stl.1_Missense_Mutation_p.S165G|GRIP1_uc001stm.2_Missense_Mutation_p.S221G	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	221	PDZ 2.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TTAAGAATACTCATGGCTTCA	0.478												
CAND1	55832	broad.mit.edu	37	12	67696289	67696289	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:67696289A>G	uc001stn.2	+	8	1624	c.1187A>G	c.(1186-1188)CAC>CGC	p.H396R	CAND1_uc001sto.2_Missense_Mutation_p.H74R	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	396	HEAT 9.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GATGTTTTTCACGCATACCTT	0.423												
RAP1B	5908	broad.mit.edu	37	12	69042539	69042539	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:69042539G>A	uc001sub.2	+	2	198	c.35G>A	c.(34-36)CGA>CAA	p.R12Q	RAP1B_uc010ste.1_Intron|RAP1B_uc001suc.2_Missense_Mutation_p.G12E|RAP1B_uc010stf.1_Missense_Mutation_p.G12E|RAP1B_uc010stg.1_Missense_Mutation_p.G12E|RAP1B_uc010sth.1_Missense_Mutation_p.G12E|RAP1B_uc010sti.1_Missense_Mutation_p.G12E	NM_001089704	NP_001083173	P61224	RAP1B_HUMAN	SubName: Full=Ras-related protein Rap-1A; SubName: Full=cDNA FLJ75985, highly similar to Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA; SubName: Full=RAP1A, member of RAS oncogene family;	12	GTP.				blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding				0	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		CTTGGCTCAGGAGGCGTTGGA	0.363												
YEATS4	8089	broad.mit.edu	37	12	69756672	69756672	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:69756672A>G	uc001sux.2	+	2	377	c.156A>G	c.(154-156)AAA>AAG	p.K52K		NM_006530	NP_006521	O95619	YETS4_HUMAN	glioma-amplified sequence-41	52	YEATS.				histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton				0	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			TATATGTGAAACCATATAGAA	0.333												
FRS2	10818	broad.mit.edu	37	12	69968485	69968485	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:69968485G>A	uc001suy.2	+	10	1787	c.1277G>A	c.(1276-1278)CGC>CAC	p.R426H	FRS2_uc001suz.2_Missense_Mutation_p.R426H|FRS2_uc009zrj.2_Missense_Mutation_p.R426H|FRS2_uc009zrk.2_Missense_Mutation_p.R426H	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	426					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			prostate(1)|kidney(1)	2	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GATATCAGACGCCCAAGTTTA	0.443												
PTPRB	5787	broad.mit.edu	37	12	70964915	70964915	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:70964915G>A	uc001swb.3	-	11	2637	c.2607C>T	c.(2605-2607)ACC>ACT	p.T869T	PTPRB_uc010sto.1_Silent_p.T869T|PTPRB_uc010stp.1_Silent_p.T779T|PTPRB_uc001swc.3_Silent_p.T1087T|PTPRB_uc001swa.3_Silent_p.T999T|PTPRB_uc001swd.3_Silent_p.T1086T|PTPRB_uc009zrr.1_Silent_p.T966T	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	869	Fibronectin type-III 10.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACTCGGTTGCGGTATTTACAA	0.453												
TRHDE	29953	broad.mit.edu	37	12	73046163	73046163	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:73046163G>A	uc001sxa.2	+	16	2632	c.2602G>A	c.(2602-2604)GTC>ATC	p.V868I		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	868	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						GGATGAGGATGTCTGGGAATT	0.368												
OSBPL8	114882	broad.mit.edu	37	12	76784295	76784295	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:76784295A>T	uc001sye.1	-	11	1552	c.1072T>A	c.(1072-1074)TCA>ACA	p.S358T	OSBPL8_uc001syf.1_Missense_Mutation_p.S316T|OSBPL8_uc001syg.1_Missense_Mutation_p.S316T|OSBPL8_uc001syh.1_Missense_Mutation_p.S333T	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	358					lipid transport		lipid binding			ovary(1)	1						TGTCTTTCTGATGTATCTGTG	0.378												
ATP2B1	490	broad.mit.edu	37	12	90028843	90028843	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:90028843T>C	uc001tbh.2	-	3	773	c.592A>G	c.(592-594)AGG>GGG	p.R198G	ATP2B1_uc001tbg.2_Missense_Mutation_p.R198G	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	198	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						TGACCACCCCTGATGACAGTG	0.408												
EEA1	8411	broad.mit.edu	37	12	93206795	93206795	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:93206795A>T	uc001tck.2	-	16	2269	c.2004T>A	c.(2002-2004)CAT>CAA	p.H668Q		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	668	Gln/Glu/Lys-rich.|Potential.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)|skin(1)	3						CTGTGTCCAAATGATTCTGAA	0.348												
PLXNC1	10154	broad.mit.edu	37	12	94642120	94642120	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:94642120A>G	uc001tdc.2	+	14	2959	c.2710A>G	c.(2710-2712)ACC>GCC	p.T904A		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	904	Extracellular (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						AGATCTTACCACCATCCTTTG	0.388												
ANKS1B	56899	broad.mit.edu	37	12	100166822	100166822	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:100166822T>G	uc001tge.1	-	8	1423	c.1006A>C	c.(1006-1008)AAA>CAA	p.K336Q	ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.K302Q	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	336						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TGACAGAGTTTTATTTCATCC	0.333												
UTP20	27340	broad.mit.edu	37	12	101763573	101763573	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:101763573G>A	uc001tia.1	+	49	6615	c.6459G>A	c.(6457-6459)GAG>GAA	p.E2153E		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	2153					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						CAAAAGCAGAGCAGCTGACAA	0.488												
UTP20	27340	broad.mit.edu	37	12	101767239	101767239	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:101767239G>A	uc001tia.1	+	53	7095	c.6939G>A	c.(6937-6939)ACG>ACA	p.T2313T		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	2313					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						TCTTTGACACGTTCCCTCAGG	0.498												
MYBPC1	4604	broad.mit.edu	37	12	102025445	102025445	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:102025445G>A	uc001tii.2	+	5	413	c.311G>A	c.(310-312)AGC>AAC	p.S104N	MYBPC1_uc001tif.1_Missense_Mutation_p.S117N|MYBPC1_uc001tig.2_Missense_Mutation_p.S129N|MYBPC1_uc010svq.1_Missense_Mutation_p.S91N|MYBPC1_uc001tih.2_Missense_Mutation_p.S129N|MYBPC1_uc001tij.2_Missense_Mutation_p.S104N|MYBPC1_uc010svr.1_Missense_Mutation_p.S104N|MYBPC1_uc010svs.1_Missense_Mutation_p.S104N|MYBPC1_uc010svt.1_Missense_Mutation_p.S92N|MYBPC1_uc010svu.1_Missense_Mutation_p.S104N|MYBPC1_uc001tik.2_Missense_Mutation_p.S78N	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	104	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						GACCTGGCCAGCAAAGCCGGG	0.507												
PAH	5053	broad.mit.edu	37	12	103288514	103288514	+	Silent	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:103288514T>G	uc001tjq.1	-	4	823	c.351A>C	c.(349-351)ACA>ACC	p.T117T	PAH_uc010swc.1_Silent_p.T117T	NM_000277	NP_000268	P00439	PH4H_HUMAN	phenylalanine hydroxylase	117					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			ovary(4)	4					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	AATTCTTACCTGTGTCTTTCT	0.348												
STAB2	55576	broad.mit.edu	37	12	103981261	103981261	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:103981261C>T	uc001tjw.2	+	1	193	c.7C>T	c.(7-9)CTA>TTA	p.L3L		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	3					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						CCTCATGATGCTACAACATTT	0.383												
STAB2	55576	broad.mit.edu	37	12	104063344	104063344	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:104063344A>G	uc001tjw.2	+	21	2384	c.2198A>G	c.(2197-2199)TAT>TGT	p.Y733C		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	733	Extracellular (Potential).				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						AAAGGCTTCTATGGACCTGAC	0.448												
CORO1C	23603	broad.mit.edu	37	12	109042423	109042423	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:109042423G>A	uc001tnj.2	-	10	1359	c.1263C>T	c.(1261-1263)GAC>GAT	p.D421D	CORO1C_uc009zva.2_Silent_p.D474D|CORO1C_uc010sxf.1_Silent_p.D384D	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C isoform 1	421					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			skin(3)	3						TGCTGATCAGGTCGCACTTCT	0.517												
ACACB	32	broad.mit.edu	37	12	109702967	109702967	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:109702967G>T	uc001tob.2	+	51	7114	c.6995G>T	c.(6994-6996)CGC>CTC	p.R2332L	ACACB_uc001toc.2_Missense_Mutation_p.R2332L|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.R998L	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	2332					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	CGTCTGCGCCGCCTCCTCCTG	0.627												
MYO1H	283446	broad.mit.edu	37	12	109826650	109826650	+	Splice_Site	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:109826650G>A	uc010sxn.1	+	1	126	c.126_splice	c.e1+1	p.Y42_splice		NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN	myosin 1H							myosin complex	motor activity				0						CCTCATATACGTAACGTGACC	0.478												
KCTD10	83892	broad.mit.edu	37	12	109889420	109889420	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:109889420G>A	uc001toi.1	-	7	1010	c.922C>T	c.(922-924)CGG>TGG	p.R308W	KCTD10_uc001toh.1_RNA|KCTD10_uc009zvi.1_Missense_Mutation_p.R282W|KCTD10_uc001toj.1_Missense_Mutation_p.R317W|KCTD10_uc001tok.1_Missense_Mutation_p.R127W	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	potassium channel tetramerisation domain	308					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity				0						AGGTGGGCCCGGTCATCAGGG	0.711												
KCTD10	83892	broad.mit.edu	37	12	109889456	109889456	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:109889456G>A	uc001toi.1	-	7	974	c.886C>T	c.(886-888)CGC>TGC	p.R296C	KCTD10_uc001toh.1_RNA|KCTD10_uc009zvi.1_Missense_Mutation_p.R270C|KCTD10_uc001toj.1_Missense_Mutation_p.R305C|KCTD10_uc001tok.1_Missense_Mutation_p.R115C	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	potassium channel tetramerisation domain	296					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity				0						CTCCGCACGCGCTCGATCCGC	0.716												
ATP2A2	488	broad.mit.edu	37	12	110734412	110734412	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:110734412T>C	uc001tqk.3	+	5	896	c.333T>C	c.(331-333)AAT>AAC	p.N111N	ATP2A2_uc001tql.3_Silent_p.N111N|ATP2A2_uc010sxy.1_Silent_p.N111N	NM_170665	NP_733765	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, slow twitch 2 isoform	111	Cytoplasmic (By similarity).				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			ovary(3)|skin(1)	4						AGGAAAGAAATGCTGAAAATG	0.388												
BRAP	8315	broad.mit.edu	37	12	112116963	112116963	+	Missense_Mutation	SNP	G	G	A	rs76800978	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:112116963G>A	uc001tsn.3	-	4	819	c.625C>T	c.(625-627)CGT>TGT	p.R209C	BRAP_uc010syh.1_Missense_Mutation_p.R68C|BRAP_uc009zvv.2_Missense_Mutation_p.R179C	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	209					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			lung(1)	1						ACCTGTGCACGAAACTTTATC	0.328												
SLC24A6	80024	broad.mit.edu	37	12	113756814	113756814	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:113756814G>A	uc001tvc.2	-	8	967	c.757C>T	c.(757-759)CGG>TGG	p.R253W	SLC24A6_uc001tuz.2_Translation_Start_Site|SLC24A6_uc001tva.2_RNA|SLC24A6_uc001tvb.2_Translation_Start_Site	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	solute carrier family 24 member 6 precursor	253	Cytoplasmic (Potential).				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			central_nervous_system(1)	1						CTCCGTTGCCGTTGGTAGATC	0.577												
FBXO21	23014	broad.mit.edu	37	12	117627076	117627076	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:117627076G>A	uc001twk.2	-	2	370	c.331C>T	c.(331-333)CGG>TGG	p.R111W	FBXO21_uc001twj.2_Missense_Mutation_p.R111W|FBXO21_uc009zwq.2_Missense_Mutation_p.R111W	NM_033624	NP_296373	O94952	FBX21_HUMAN	F-box only protein 21 isoform 1	111					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		ACAATCTTCCGCGCTTCTAAC	0.483												
SRRM4	84530	broad.mit.edu	37	12	119419710	119419710	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:119419710A>G	uc001txa.1	+	1	315	c.23A>G	c.(22-24)GAG>GGG	p.E8G		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	8					cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						CAGCAAGGCGAGAAGCAGCTT	0.632												
CCDC64	92558	broad.mit.edu	37	12	120510351	120510351	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:120510351C>T	uc001txl.1	+	6	1151	c.1126C>T	c.(1126-1128)CGC>TGC	p.R376C	CCDC64_uc001txk.2_Missense_Mutation_p.R376C|CCDC64_uc009zwv.1_Intron|CCDC64_uc010sze.1_Intron|CCDC64_uc010szf.1_Missense_Mutation_p.R25C	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	376	Potential.				Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			ovary(2)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGCCAGGTTCGCTATCTGTG	0.522												
MLEC	9761	broad.mit.edu	37	12	121132904	121132904	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:121132904T>C	uc001tyy.1	+	4	749	c.598T>C	c.(598-600)TAT>CAT	p.Y200H		NM_014730	NP_055545	Q14165	MLEC_HUMAN	malectin precursor	200	Lumenal (Potential).				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding			ovary(1)	1						CTAGGGGTACTATGACAATCC	0.493												
CAMKK2	10645	broad.mit.edu	37	12	121678610	121678610	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:121678610A>G	uc001tzu.2	-	17	1783	c.1659T>C	c.(1657-1659)AGT>AGC	p.S553S	CAMKK2_uc001tzt.2_Missense_Mutation_p.V539A|CAMKK2_uc001tzv.2_Silent_p.S553S|CAMKK2_uc001tzw.2_Silent_p.S510S|CAMKK2_uc001tzx.2_Missense_Mutation_p.V539A|CAMKK2_uc001tzy.2_Missense_Mutation_p.V496A|CAMKK2_uc001tzz.1_Intron|CAMKK2_uc001uaa.1_Intron	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase	553					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			lung(1)|large_intestine(1)|stomach(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCACAAGAGCACTTCCTCCTC	0.652												
RNF34	80196	broad.mit.edu	37	12	121855521	121855521	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:121855521T>C	uc001ual.1	+	3	554	c.440T>C	c.(439-441)GTA>GCA	p.V147A	RNF34_uc010szw.1_Missense_Mutation_p.V148A|RNF34_uc001uak.1_Missense_Mutation_p.V148A|RNF34_uc001uam.1_Missense_Mutation_p.V147A	NM_025126	NP_079402	Q969K3	RNF34_HUMAN	ring finger protein 34 isoform 2	147					apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		GTGGATCTAGTACTGTGCCAT	0.443												
CLIP1	6249	broad.mit.edu	37	12	122826190	122826190	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:122826190A>G	uc001ucg.1	-	10	1667	c.1561T>C	c.(1561-1563)TTG>CTG	p.L521L	CLIP1_uc001uch.1_Silent_p.L510L|CLIP1_uc001uci.1_Silent_p.L475L|CLIP1_uc001ucj.1_Silent_p.L211L|CLIP1_uc009zxo.1_Silent_p.L77L	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	521	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TGTACTCTCAATGCTAGGTCT	0.418												
KNTC1	9735	broad.mit.edu	37	12	123060120	123060120	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:123060120T>C	uc001ucv.2	+	28	2576	c.2413T>C	c.(2413-2415)TAT>CAT	p.Y805H	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	805					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CAAGATCATGTATGCGGCAGT	0.483												
HIP1R	9026	broad.mit.edu	37	12	123334461	123334461	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:123334461T>G	uc001udj.1	+	5	456	c.397T>G	c.(397-399)TAC>GAC	p.Y133D	HIP1R_uc001udg.1_Missense_Mutation_p.Y121D|HIP1R_uc001udi.1_Missense_Mutation_p.Y133D|HIP1R_uc001udh.2_Missense_Mutation_p.Y133D	NM_003959	NP_003950	O75146	HIP1R_HUMAN	huntingtin interacting protein-1-related	133	ENTH.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		GGTGAATGTCTACACCAAGCT	0.582												
EIF2B1	1967	broad.mit.edu	37	12	124111688	124111688	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:124111688C>T	uc001ufm.2	-	5	528	c.385G>A	c.(385-387)GCC>ACC	p.A129T	EIF2B1_uc001ufn.2_Missense_Mutation_p.A129T|EIF2B1_uc010tat.1_Missense_Mutation_p.A129T	NM_001414	NP_001405	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B,	129					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		CTGGAGTAGGCGTGAGTCAAT	0.557												
DNAH10	196385	broad.mit.edu	37	12	124409638	124409638	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:124409638G>T	uc001uft.3	+	67	11479	c.11454G>T	c.(11452-11454)TTG>TTT	p.L3818F	DNAH10_uc001ufu.3_5'UTR	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3818	TPR 4.				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCGTCCCCTTGGGTTACGATA	0.473												
DNAH10	196385	broad.mit.edu	37	12	124419276	124419276	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:124419276A>C	uc001uft.3	+	77	13257	c.13232A>C	c.(13231-13233)AAG>ACG	p.K4411T	DNAH10_uc001ufu.3_Missense_Mutation_p.K324T	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4411					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCGATCCTGAAGATCATCCCC	0.537												
NCOR2	9612	broad.mit.edu	37	12	124915170	124915170	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:124915170C>T	uc010tba.1	-	9	1163	c.1046G>A	c.(1045-1047)CGC>CAC	p.R349H	NCOR2_uc010tay.1_Missense_Mutation_p.R349H|NCOR2_uc010taz.1_Missense_Mutation_p.R349H|NCOR2_uc010tbb.1_Missense_Mutation_p.R349H|NCOR2_uc010tbc.1_Missense_Mutation_p.R349H|NCOR2_uc001ugj.1_Missense_Mutation_p.R349H|NCOR2_uc001ugk.1_Missense_Mutation_p.R349H	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	349					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCTCTGCATGCGCTCCTGCAG	0.662												
NCOR2	9612	broad.mit.edu	37	12	124968140	124968140	+	Splice_Site	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:124968140A>G	uc010tba.1	-	3	528	c.411_splice	c.e3+1	p.K137_splice	NCOR2_uc010tay.1_Splice_Site_p.K137_splice|NCOR2_uc010taz.1_Splice_Site_p.K137_splice|NCOR2_uc010tbb.1_Splice_Site_p.K137_splice|NCOR2_uc010tbc.1_Splice_Site_p.K137_splice|NCOR2_uc001ugj.1_Splice_Site_p.K137_splice|NCOR2_uc001ugk.1_Splice_Site_p.K137_splice|uc001ugl.2_5'Flank	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2						cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCCCAGGCTTACCTTGGTGAG	0.692												
UBC	7316	broad.mit.edu	37	12	125397600	125397600	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:125397600T>C	uc001ugs.3	-	2	1166	c.718A>G	c.(718-720)ACC>GCC	p.T240A	UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Missense_Mutation_p.T240A|UBC_uc001ugt.2_Missense_Mutation_p.T240A|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Missense_Mutation_p.T88A	NM_021009	NP_066289	P0CG48	UBC_HUMAN	ubiquitin C	240	Ubiquitin-like 4.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		AGGGTGATGGTCTTGCCAGTG	0.507												
EP400	57634	broad.mit.edu	37	12	132491389	132491389	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:132491389A>T	uc001ujn.2	+	14	3306	c.3271A>T	c.(3271-3273)ATT>TTT	p.I1091F	EP400_uc001ujl.2_Missense_Mutation_p.I1090F|EP400_uc001ujm.2_Missense_Mutation_p.I1091F	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1127	Interactions with RUVBL1 and RUVBL2.|Helicase ATP-binding.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGTGCAGATCATTGCTTTTTT	0.423												
P2RX2	22953	broad.mit.edu	37	12	133197136	133197136	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:133197136G>T	uc001ukj.1	+	7	741	c.741G>T	c.(739-741)AAG>AAT	p.K247N	P2RX2_uc001uki.1_Missense_Mutation_p.K247N|P2RX2_uc001ukk.1_Missense_Mutation_p.K247N|P2RX2_uc001ukl.1_Missense_Mutation_p.K223N|P2RX2_uc001ukm.1_Missense_Mutation_p.K175N|P2RX2_uc001ukn.1_Missense_Mutation_p.K155N|P2RX2_uc009zyt.1_Missense_Mutation_p.K247N|P2RX2_uc001uko.1_Missense_Mutation_p.G212C	NM_170682	NP_733782	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X2 isoform A	247	Extracellular (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		TCGTGGAGAAGGCTGGGGAGA	0.647												
POLE	5426	broad.mit.edu	37	12	133254211	133254211	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:133254211C>T	uc001uks.1	-	7	717	c.673G>A	c.(673-675)GAT>AAT	p.D225N	POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.D198N	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	225					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TAGGGAACATCGTACTCGCGC	0.522								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
PXMP2	5827	broad.mit.edu	37	12	133266939	133266939	+	Silent	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:133266939G>T	uc001ukt.2	+	2	278	c.213G>T	c.(211-213)GGG>GGT	p.G71G	POLE_uc001uks.1_5'Flank|POLE_uc010tbq.1_5'Flank|POLE_uc009zyu.1_5'Flank|PGAM5_uc010tbr.1_RNA	NM_018663	NP_061133	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	71	Peroxisomal (Potential).					integral to membrane|peroxisomal membrane	protein binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		ATGTCGGTGGGCCTCTGAGAT	0.512												
ZMYM2	7750	broad.mit.edu	37	13	20638643	20638643	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:20638643C>T	uc001umr.2	+	20	3388	c.3090C>T	c.(3088-3090)GGC>GGT	p.G1030G	ZMYM2_uc001ums.2_Silent_p.G1030G|ZMYM2_uc001umt.2_Silent_p.G1030G|ZMYM2_uc001umv.2_Silent_p.G410G|ZMYM2_uc001umw.2_Silent_p.G483G	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	1030					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CTGTTTTTGGCGAAGAATATG	0.348												
LATS2	26524	broad.mit.edu	37	13	21563416	21563416	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:21563416G>A	uc009zzs.2	-	4	868	c.503C>T	c.(502-504)ACG>ATG	p.T168M	LATS2_uc001unr.3_Missense_Mutation_p.T168M	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	168					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GGGCCTCCGCGTCACTGGGGT	0.617												
SGCG	6445	broad.mit.edu	37	13	23853606	23853606	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:23853606T>G	uc001uom.2	+	5	649	c.494T>G	c.(493-495)CTT>CGT	p.L165R	SGCG_uc009zzv.2_Missense_Mutation_p.L165R|SGCG_uc009zzw.2_Missense_Mutation_p.L165R	NM_000231	NP_000222	Q13326	SGCG_HUMAN	gamma sarcoglycan	165	Extracellular (Potential).				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma					0		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		ACAGATAAACTTCGAGTAACT	0.388												
SACS	26278	broad.mit.edu	37	13	23912055	23912055	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:23912055G>A	uc001uon.2	-	10	6549	c.5960C>T	c.(5959-5961)TCC>TTC	p.S1987F	SACS_uc001uoo.2_Missense_Mutation_p.S1840F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1987					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)		GTTCTTCATGGAAACCCAAGT	0.363												
SACS	26278	broad.mit.edu	37	13	23929676	23929676	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:23929676A>G	uc001uon.2	-	8	1664	c.1075T>C	c.(1075-1077)TAT>CAT	p.Y359H	SACS_uc001uoo.2_Missense_Mutation_p.Y212H|SACS_uc001uop.1_Missense_Mutation_p.Y146H|SACS_uc001uoq.1_Missense_Mutation_p.Y212H	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	359					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)		TTTTTACAATAGTTACTTATA	0.378												
RNF17	56163	broad.mit.edu	37	13	25367423	25367423	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:25367423A>G	uc001upr.2	+	10	1220	c.1179A>G	c.(1177-1179)TTA>TTG	p.L393L	RNF17_uc010tdd.1_Silent_p.L252L|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Silent_p.L393L|RNF17_uc001ups.2_Silent_p.L332L|RNF17_uc001upq.1_Silent_p.L393L	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	393					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTGCTGTGTTACCTCAGATGG	0.393												
NUPL1	9818	broad.mit.edu	37	13	25887102	25887102	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:25887102C>T	uc001uqi.2	+	4	614	c.368C>T	c.(367-369)GCT>GTT	p.A123V	NUPL1_uc001uqg.1_Missense_Mutation_p.A123V|NUPL1_uc001uqj.2_Missense_Mutation_p.A111V	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1 isoform a	123	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore					0		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		ACACCATTTGCTCTACCTATT	0.433												
BRCA2	675	broad.mit.edu	37	13	32913117	32913117	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:32913117T>C	uc001uub.1	+	11	4852	c.4625T>C	c.(4624-4626)GTG>GCG	p.V1542A		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1542	BRCA2 4.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTGGACAAAGTGAAAAACCTT	0.388			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)		
KL	9365	broad.mit.edu	37	13	33628375	33628375	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:33628375A>G	uc001uus.2	+	2	1299	c.1291A>G	c.(1291-1293)ATG>GTG	p.M431V	KL_uc001uur.1_Missense_Mutation_p.M124V	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	431	Glycosyl hydrolase-1 1.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TGCCAAATATATGTATTACCT	0.363												
KL	9365	broad.mit.edu	37	13	33628382	33628382	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:33628382A>G	uc001uus.2	+	2	1306	c.1298A>G	c.(1297-1299)TAC>TGC	p.Y433C	KL_uc001uur.1_Missense_Mutation_p.Y126C	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	433	Glycosyl hydrolase-1 1.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TATATGTATTACCTCAAAAAG	0.348												
STARD13	90627	broad.mit.edu	37	13	33703571	33703571	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:33703571G>T	uc001uuw.2	-	5	1369	c.1243C>A	c.(1243-1245)CTC>ATC	p.L415I	STARD13_uc001uuu.2_Missense_Mutation_p.L407I|STARD13_uc001uuv.2_Missense_Mutation_p.L297I|STARD13_uc001uux.2_Missense_Mutation_p.L380I|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.L400I	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	415					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GTGGGAGAGAGGCTTTCAATA	0.527												
DCLK1	9201	broad.mit.edu	37	13	36686055	36686055	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:36686055T>G	uc001uvf.2	-	3	907	c.674A>C	c.(673-675)AAG>ACG	p.K225T		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	225	Doublecortin 2.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CGAGTCCAGCTTGATGGCATC	0.498												
FAM48A	55578	broad.mit.edu	37	13	37607598	37607598	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:37607598C>T	uc001uwg.2	-	10	943	c.695G>A	c.(694-696)CGC>CAC	p.R232H	FAM48A_uc010abt.2_Missense_Mutation_p.R233H|FAM48A_uc001uwh.2_Missense_Mutation_p.R233H|FAM48A_uc001uwi.2_Missense_Mutation_p.R232H|FAM48A_uc001uwj.2_Missense_Mutation_p.R233H|FAM48A_uc001uwk.2_Missense_Mutation_p.R232H|FAM48A_uc010tes.1_Missense_Mutation_p.R220H|FAM48A_uc001uwl.1_Missense_Mutation_p.R232H	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A	232					autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		TTTCATTGGGCGAGTGTTCAT	0.423												
FREM2	341640	broad.mit.edu	37	13	39264653	39264653	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:39264653A>G	uc001uwv.2	+	1	3481	c.3172A>G	c.(3172-3174)ACC>GCC	p.T1058A		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1058	Extracellular (Potential).|CSPG 7.				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)		TATATGGGTGACCATCCTGCC	0.408												
FREM2	341640	broad.mit.edu	37	13	39343783	39343783	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:39343783C>T	uc001uwv.2	+	4	5788	c.5479C>T	c.(5479-5481)CAG>TAG	p.Q1827*	FREM2_uc001uww.2_5'UTR	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1827	Calx-beta 1.|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)		GAAACAAGTGCAGTTCAACCC	0.473												
C13orf23	80209	broad.mit.edu	37	13	39587233	39587233	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:39587233A>G	uc001uwy.2	-	11	3029	c.2156T>C	c.(2155-2157)GTA>GCA	p.V719A	C13orf23_uc001uwz.2_Missense_Mutation_p.V697A	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	719	Ser-rich.									ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)		TGGGAGAGATACTGACGGATT	0.483												
DGKH	160851	broad.mit.edu	37	13	42764582	42764582	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:42764582G>C	uc001uyl.1	+	16	1977	c.1956G>C	c.(1954-1956)CAG>CAC	p.Q652H	DGKH_uc010tfh.1_Missense_Mutation_p.Q652H|DGKH_uc001uym.1_Missense_Mutation_p.Q652H|DGKH_uc010tfi.1_Missense_Mutation_p.Q407H|DGKH_uc010tfj.1_Missense_Mutation_p.Q507H|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Missense_Mutation_p.Q507H|DGKH_uc001uyp.2_RNA	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	652					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CAGCTAATCAGTCCTCTGATT	0.388												
SIAH3	283514	broad.mit.edu	37	13	46358019	46358019	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:46358019C>T	uc001vap.2	-	2	391	c.309G>A	c.(307-309)ACG>ACA	p.T103T		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	seven in absentia homolog 3	103	SIAH-type; degenerate.				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			ovary(1)|skin(1)	2						ACAGGCAGGGCGTCACCGGGT	0.438												
ZC3H13	23091	broad.mit.edu	37	13	46549464	46549464	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:46549464G>A	uc010tfw.1	-	11	2428	c.2422C>T	c.(2422-2424)CGA>TGA	p.R808*	ZC3H13_uc001vas.1_Nonsense_Mutation_p.R808*|ZC3H13_uc001vat.1_Nonsense_Mutation_p.R808*	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	808	Arg/Glu-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTATCTTCTCGGATCTCTTCT	0.323												
SUCLA2	8803	broad.mit.edu	37	13	48562777	48562777	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:48562777T>G	uc001vbs.2	-	4	490	c.433A>C	c.(433-435)ACG>CCG	p.T145P	SUCLA2_uc010tgb.1_Missense_Mutation_p.T85P|SUCLA2_uc010tgc.1_Missense_Mutation_p.T11P|SUCLA2_uc010tgd.1_Missense_Mutation_p.T85P|SUCLA2_uc001vbt.1_RNA|SUCLA2_uc001vbu.1_Missense_Mutation_p.T145P	NM_003850	NP_003841	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	145	ATP-grasp.				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)	1		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	TTTTCTCCCGTTTGCTTGGTA	0.353												
FNDC3A	22862	broad.mit.edu	37	13	49772224	49772224	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:49772224A>C	uc001vcm.2	+	22	2902	c.2597A>C	c.(2596-2598)GAG>GCG	p.E866A	FNDC3A_uc001vcn.2_Missense_Mutation_p.E866A|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcq.2_Missense_Mutation_p.E810A	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	866	Fibronectin type-III 7.					Golgi membrane|integral to membrane				lung(2)	2		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AGCGATGATGAGATAGAAAAT	0.453												
ATP7B	540	broad.mit.edu	37	13	52515321	52515321	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:52515321C>T	uc001vfw.2	-	16	3609	c.3452G>A	c.(3451-3453)CGT>CAT	p.R1151H	ATP7B_uc010adv.2_Missense_Mutation_p.R721H|ATP7B_uc001vfx.2_Missense_Mutation_p.R944H|ATP7B_uc001vfy.2_Missense_Mutation_p.R1040H|ATP7B_uc010tgt.1_Missense_Mutation_p.R1086H|ATP7B_uc010tgu.1_Missense_Mutation_p.R1103H|ATP7B_uc010tgv.1_Missense_Mutation_p.R1073H|ATP7B_uc001vfv.2_Missense_Mutation_p.R423H|ATP7B_uc010tgs.1_Missense_Mutation_p.R362H	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1151	Cytoplasmic (Potential).		R -> H (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CAGCCACTCACGGTTTCCAAT	0.468									Wilson_disease			
LECT1	11061	broad.mit.edu	37	13	53277901	53277901	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:53277901G>A	uc001vhf.2	-	7	945	c.834C>T	c.(832-834)CAC>CAT	p.H278H	LECT1_uc001vhg.2_Silent_p.H277H|LECT1_uc001vhh.2_Silent_p.H267H	NM_007015	NP_008946	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1 isoform 1	278					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				ovary(2)	2		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		AGATTCCTTCGTGATCCAGTC	0.448												
PCDH9	5101	broad.mit.edu	37	13	67801672	67801672	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:67801672T>C	uc001vik.2	-	2	1593	c.901A>G	c.(901-903)AGA>GGA	p.R301G	PCDH9_uc001vil.2_Missense_Mutation_p.R301G|PCDH9_uc010thl.1_Missense_Mutation_p.R301G|PCDH9_uc001vin.3_Missense_Mutation_p.R301G	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	301	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GCAAAGAGTCTTTTGGTTGCA	0.458												
TBC1D4	9882	broad.mit.edu	37	13	75886963	75886963	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:75886963A>G	uc001vjl.1	-	13	2641	c.2294T>C	c.(2293-2295)GTC>GCC	p.V765A	TBC1D4_uc010tht.1_5'UTR|TBC1D4_uc010thu.1_5'UTR|TBC1D4_uc010aer.2_Missense_Mutation_p.V757A|TBC1D4_uc010aes.2_Missense_Mutation_p.V702A	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	765						cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GCGAGGAGTGACAGAGGTTCC	0.498												
TPP2	7174	broad.mit.edu	37	13	103282504	103282504	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:103282504A>G	uc001vpi.3	+	10	1306	c.1203A>G	c.(1201-1203)AAA>AAG	p.K401K		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	401					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGAGAGAGAAATTACCTGCAA	0.398												
MYO16	23026	broad.mit.edu	37	13	109859071	109859071	+	Missense_Mutation	SNP	G	G	A	rs139848765	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:109859071G>A	uc001vqt.1	+	35	5590	c.5464G>A	c.(5464-5466)GCT>ACT	p.A1822T	MYO16_uc010agk.1_Missense_Mutation_p.A1844T	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1822					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCTGCACCACGCTGAGCCCAG	0.602												
COL4A1	1282	broad.mit.edu	37	13	110802784	110802784	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:110802784T>C	uc001vqw.3	-	52	5058	c.4936A>G	c.(4936-4938)ACG>GCG	p.T1646A	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1646	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GTGGACGGCGTAGGCTTCCTA	0.532												
CARKD	55739	broad.mit.edu	37	13	111286940	111286940	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:111286940G>A	uc001vrb.2	+	6	558	c.544G>A	c.(544-546)GCG>ACG	p.A182T	CARKD_uc010tji.1_Missense_Mutation_p.A119T|CARKD_uc010tjj.1_Missense_Mutation_p.A164T|CARKD_uc001vqz.2_RNA|CARKD_uc001vra.2_RNA|CARKD_uc010tjk.1_Missense_Mutation_p.A72T|CARKD_uc010tjl.1_Missense_Mutation_p.A51T|CARKD_uc001vrc.2_Missense_Mutation_p.A182T			Q8IW45	CARKD_HUMAN	RecName: Full=Carbohydrate kinase domain-containing protein; Flags: Precursor;	182	YjeF C-terminal.									skin(1)	1						TGTCATCGACGCGGTGAGTTG	0.547												
ARHGEF7	8874	broad.mit.edu	37	13	111870075	111870075	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:111870075A>G	uc001vrs.2	+	6	831	c.581A>G	c.(580-582)AAC>AGC	p.N194S	ARHGEF7_uc001vrr.2_Missense_Mutation_p.N173S|ARHGEF7_uc001vrt.2_Missense_Mutation_p.N144S|ARHGEF7_uc010tjn.1_RNA|ARHGEF7_uc001vru.1_Missense_Mutation_p.N16S|ARHGEF7_uc001vrv.3_Missense_Mutation_p.N16S|ARHGEF7_uc001vrw.3_Missense_Mutation_p.N16S|ARHGEF7_uc001vrx.3_Missense_Mutation_p.N16S|ARHGEF7_uc010tjo.1_Missense_Mutation_p.N91S	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform c	194	SH3.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GCAAAGTTTAACTTCCAGCAG	0.463												
FAM70B	348013	broad.mit.edu	37	13	114507957	114507957	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:114507957C>T	uc001vuh.2	+	8	796	c.769C>T	c.(769-771)CCC>TCC	p.P257S		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	family with sequence similarity 70, member B	257	Pro-rich.					integral to membrane					0	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			CCGCCTGACGCCCGAGCCCGT	0.677												
RASA3	22821	broad.mit.edu	37	13	114786967	114786967	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:114786967G>A	uc001vui.2	-	9	829	c.698C>T	c.(697-699)GCC>GTC	p.A233V	RASA3_uc010tkk.1_Missense_Mutation_p.A201V|RASA3_uc001vuj.2_5'UTR|RASA3_uc010tkl.1_RNA|RASA3_uc010aha.1_RNA	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	233	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(3)|skin(1)	4	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CAGGTTACTGGCATTCCAGAG	0.537												
CDC16	8881	broad.mit.edu	37	13	115007699	115007699	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:115007699A>G	uc001vuk.1	+	6	683	c.485A>G	c.(484-486)TAC>TGC	p.Y162C	CDC16_uc010tkm.1_Missense_Mutation_p.Y162C|CDC16_uc001vul.1_Missense_Mutation_p.Y162C|CDC16_uc001vum.1_Missense_Mutation_p.Y68C|CDC16_uc001vun.1_Missense_Mutation_p.Y161C|CDC16_uc001vuo.1_Missense_Mutation_p.Y161C	NM_003903	NP_003894	Q13042	CDC16_HUMAN	anaphase-promoting complex, subunit 6	162	TPR 1.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding				0	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			CTTGATGTCTACTGTTTTGAA	0.388												
OR4N2	390429	broad.mit.edu	37	14	20296294	20296294	+	Silent	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:20296294T>G	uc010tkv.1	+	1	687	c.687T>G	c.(685-687)TCT>TCG	p.S229S		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAGGGTCTTCTTCTGAGGCAA	0.488												
TEP1	7011	broad.mit.edu	37	14	20849766	20849766	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:20849766G>A	uc001vxe.2	-	31	4544	c.4504C>T	c.(4504-4506)CGT>TGT	p.R1502C	TEP1_uc010ahk.2_Missense_Mutation_p.R845C|TEP1_uc010tlf.1_Intron|TEP1_uc010tlg.1_Missense_Mutation_p.R1394C|TEP1_uc010tlh.1_Intron	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1502					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCATAGCAACGTTTAGCTGCT	0.627												
FLJ10357	55701	broad.mit.edu	37	14	21552988	21552988	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:21552988G>A	uc001vzp.2	+	18	3895	c.3866G>A	c.(3865-3867)CGC>CAC	p.R1289H	FLJ10357_uc001vzo.1_Missense_Mutation_p.R368H|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Missense_Mutation_p.R575H	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	1289	PH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		AAGTGCCTTCGCCATGTCTTT	0.507												
RPGRIP1	57096	broad.mit.edu	37	14	21792816	21792816	+	Missense_Mutation	SNP	C	C	T	rs3748360	by1000genomes	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:21792816C>T	uc001wag.2	+	14	1802	c.1802C>T	c.(1801-1803)TCG>TTG	p.S601L	RPGRIP1_uc001wah.2_Missense_Mutation_p.S243L|RPGRIP1_uc001wai.2_Intron|RPGRIP1_uc001waj.1_Missense_Mutation_p.S66L|RPGRIP1_uc001wak.2_Missense_Mutation_p.S76L|RPGRIP1_uc010aim.2_Intron|RPGRIP1_uc001wal.2_Missense_Mutation_p.R10C|RPGRIP1_uc001wam.2_5'UTR	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	601					response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CGACCGTTGTCGTTATGTTTG	0.473												
SUPT16H	11198	broad.mit.edu	37	14	21830483	21830483	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:21830483T>C	uc001wao.2	-	15	2005	c.1666A>G	c.(1666-1668)AAT>GAT	p.N556D		NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	556					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		ATACTTATATTCTGTTCAAAG	0.363												
CDH24	64403	broad.mit.edu	37	14	23523477	23523477	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:23523477C>T	uc001wil.2	-	6	1105	c.845G>A	c.(844-846)CGG>CAG	p.R282Q	CDH24_uc010akf.2_Missense_Mutation_p.R282Q|CDH24_uc001win.3_Missense_Mutation_p.R282Q	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	cadherin-like 24 isoform 1	282	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			central_nervous_system(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GTCCTGGGCCCGGAGCCGGCC	0.627												
MYH6	4624	broad.mit.edu	37	14	23853917	23853917	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:23853917T>C	uc001wjv.2	-	36	5366	c.5299A>G	c.(5299-5301)ATG>GTG	p.M1767V		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1767	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCTCTGCCATCATGGCGGCC	0.612												
DHRS2	10202	broad.mit.edu	37	14	24108526	24108526	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:24108526C>T	uc001wkt.3	+	3	726	c.279C>T	c.(277-279)CAC>CAT	p.H93H	DHRS2_uc010aku.1_Silent_p.H93H|DHRS2_uc001wku.3_Silent_p.H93H|DHRS2_uc010akv.2_RNA|DHRS2_uc001wkv.3_Silent_p.H93H	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	dehydrogenase/reductase member 2 isoform 1	71					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00659)		TTGTGTGCCACGTGGGGAAGG	0.657												
PRKD1	5587	broad.mit.edu	37	14	30068878	30068878	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:30068878T>G	uc001wqh.2	-	14	2232	c.2051A>C	c.(2050-2052)AAG>ACG	p.K684T		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	684	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AATTAAAAACTTCGTTATGTG	0.353												
NPAS3	64067	broad.mit.edu	37	14	34269414	34269414	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:34269414C>T	uc001wru.2	+	12	1965	c.1901C>T	c.(1900-1902)CCG>CTG	p.P634L	NPAS3_uc001wrs.2_Missense_Mutation_p.P621L|NPAS3_uc001wrt.2_Missense_Mutation_p.P602L|NPAS3_uc001wrv.2_Missense_Mutation_p.P604L	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	634					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GTGGAGCCCCCGCGGCTGCTG	0.642												
FBXO33	254170	broad.mit.edu	37	14	39870564	39870564	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:39870564A>G	uc001wvk.2	-	3	1550	c.1212T>C	c.(1210-1212)ACT>ACC	p.T404T		NM_203301	NP_976046	Q7Z6M2	FBX33_HUMAN	F-box protein 33	404											0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		CTGAAACACAAGTGATATAGC	0.343												
LRFN5	145581	broad.mit.edu	37	14	42356770	42356770	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:42356770T>C	uc001wvm.2	+	3	2140	c.942T>C	c.(940-942)CCT>CCC	p.P314P	LRFN5_uc010ana.2_Silent_p.P314P	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	314	Extracellular (Potential).|Ig-like.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GGGGAGACCCTGAGCCTGCAA	0.458										HNSCC(30;0.082)		
LRFN5	145581	broad.mit.edu	37	14	42357187	42357187	+	Silent	SNP	T	T	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:42357187T>A	uc001wvm.2	+	3	2557	c.1359T>A	c.(1357-1359)GGT>GGA	p.G453G	LRFN5_uc010ana.2_Silent_p.G453G	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	453	Extracellular (Potential).|Fibronectin type-III.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGTACAATGGTACTTATGATG	0.323										HNSCC(30;0.082)		
FAM179B	23116	broad.mit.edu	37	14	45501482	45501482	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:45501482C>T	uc001wvv.2	+	11	3924	c.3715C>T	c.(3715-3717)CAT>TAT	p.H1239Y	FAM179B_uc001wvw.2_Missense_Mutation_p.H1239Y|FAM179B_uc010anc.2_RNA	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	1239							binding			skin(2)|upper_aerodigestive_tract(1)	3						TTCTGTCACTCATAGTCCAGA	0.378												
FAM179B	23116	broad.mit.edu	37	14	45542738	45542738	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:45542738G>A	uc001wvv.2	+	19	5346	c.5137G>A	c.(5137-5139)GAT>AAT	p.D1713N	FAM179B_uc001wvw.2_Missense_Mutation_p.D1766N|FAM179B_uc010anc.2_RNA	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	1713							binding			skin(2)|upper_aerodigestive_tract(1)	3						GGAATTACTCGATATGACAAT	0.313												
RPL10L	140801	broad.mit.edu	37	14	47120878	47120878	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:47120878C>T	uc001wwg.2	-	1	151	c.62G>A	c.(61-63)CGT>CAT	p.R21H		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	21					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1						TCGGCAGAAACGAGATTTTGG	0.542												
PYGL	5836	broad.mit.edu	37	14	51387719	51387719	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:51387719G>A	uc001wyu.2	-	6	854	c.727C>T	c.(727-729)CGC>TGC	p.R243C	PYGL_uc010tqq.1_Missense_Mutation_p.R209C|PYGL_uc001wyv.2_5'UTR|PYGL_uc010anz.1_Missense_Mutation_p.R46C	NM_002863	NP_002854	P06737	PYGL_HUMAN	liver glycogen phosphorylase isoform 1	243					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			skin(1)	1	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	GACCAGAGGCGCATGGTGTTG	0.498												
NID2	22795	broad.mit.edu	37	14	52485867	52485867	+	Missense_Mutation	SNP	G	G	T	rs138141385		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:52485867G>T	uc001wzo.2	-	14	3174	c.2940C>A	c.(2938-2940)TTC>TTA	p.F980L	NID2_uc010tqs.1_Missense_Mutation_p.F932L|NID2_uc010tqt.1_Missense_Mutation_p.F980L|NID2_uc001wzp.2_Missense_Mutation_p.F980L	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	980	Thyroglobulin type-1 1.					basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					CGCACCAGCAGAAACCAGTGC	0.622												
KIAA0831	22863	broad.mit.edu	37	14	55848812	55848812	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:55848812G>A	uc001xbx.1	-	6	781	c.745C>T	c.(745-747)CGA>TGA	p.R249*	FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbw.1_Nonsense_Mutation_p.R136*	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN	Barkor	249					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding				0						CAGACCCATCGTCCTGAGAGG	0.537												
TBPL2	387332	broad.mit.edu	37	14	55903343	55903343	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:55903343A>T	uc001xby.2	-	2	544	c.544T>A	c.(544-546)TCC>ACC	p.S182T		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	182					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding				0						GGAGTTATGGATGCCAGAGAC	0.438												
PELI2	57161	broad.mit.edu	37	14	56757153	56757153	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:56757153G>A	uc001xch.2	+	5	961	c.675G>A	c.(673-675)TCG>TCA	p.S225S		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	pellino 2	225					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			ovary(1)	1						AAACCAGGTCGGCCCAGCAAC	0.557												
C14orf37	145407	broad.mit.edu	37	14	58604793	58604793	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:58604793G>A	uc001xdc.2	-	2	1395	c.1284C>T	c.(1282-1284)AAC>AAT	p.N428N	C14orf37_uc010tro.1_Silent_p.N466N|C14orf37_uc001xdd.2_Silent_p.N428N|C14orf37_uc001xde.2_Silent_p.N428N	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	hypothetical protein LOC145407 precursor	428	Extracellular (Potential).					integral to membrane	binding				0						ACAGGGCATCGTTTTCCTTGG	0.413												
C14orf39	317761	broad.mit.edu	37	14	60903608	60903608	+	Silent	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:60903608A>C	uc001xez.3	-	18	1829	c.1719T>G	c.(1717-1719)GGT>GGG	p.G573G	C14orf39_uc010apo.2_Silent_p.G284G	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	hypothetical protein LOC317761	573										ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		AAGATGAAAAACCTTTTAAAG	0.308												
C14orf39	317761	broad.mit.edu	37	14	60903657	60903657	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:60903657A>T	uc001xez.3	-	18	1780	c.1670T>A	c.(1669-1671)TTT>TAT	p.F557Y	C14orf39_uc010apo.2_Missense_Mutation_p.F268Y	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	hypothetical protein LOC317761	557										ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TCCAAATGAAAATGGAAAACT	0.338												
ACTN1	87	broad.mit.edu	37	14	69392309	69392309	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:69392309G>A	uc001xkl.2	-	2	496	c.186C>T	c.(184-186)GGC>GGT	p.G62G	ACTN1_uc010ttb.1_5'UTR|ACTN1_uc001xkm.2_Silent_p.G62G|ACTN1_uc001xkn.2_Silent_p.G62G|ACTN1_uc001xko.1_5'UTR|ACTN1_uc010ttd.1_Silent_p.G41G	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	62	CH 1.|Actin-binding.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TGAGCTTCAGGCCATCCCGGA	0.582												
KIAA0247	9766	broad.mit.edu	37	14	70171406	70171406	+	Silent	SNP	C	C	T	rs150724393	by1000genomes	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:70171406C>T	uc001xlk.2	+	4	721	c.405C>T	c.(403-405)CTC>CTT	p.L135L	KIAA0247_uc010aqz.2_Silent_p.L110L	NM_014734	NP_055549	Q92537	K0247_HUMAN	hypothetical protein LOC9766 precursor	135	Helical; (Potential).					integral to membrane				ovary(3)	3				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		TTCTCCTCCTCGTGGTGCTGT	0.527												
SMOC1	64093	broad.mit.edu	37	14	70346477	70346477	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:70346477C>T	uc001xls.1	+	1	335	c.82C>T	c.(82-84)CGC>TGC	p.R28C	SMOC1_uc001xlt.1_Missense_Mutation_p.R28C	NM_022137	NP_071420	Q9H4F8	SMOC1_HUMAN	secreted modular calcium-binding protein 1	28					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			upper_aerodigestive_tract(1)|pancreas(1)	2				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		TCGCGGCCACCGCACCACAGG	0.721												
SLC8A3	6547	broad.mit.edu	37	14	70634917	70634917	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:70634917C>A	uc001xly.2	-	2	977	c.223G>T	c.(223-225)GCC>TCC	p.A75S	SLC8A3_uc001xlw.2_Missense_Mutation_p.A75S|SLC8A3_uc001xlx.2_Missense_Mutation_p.A75S|SLC8A3_uc001xlz.2_Missense_Mutation_p.A75S|SLC8A3_uc010ara.2_RNA	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	75	Helical; (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATGACCCTGGCAATCTTGTCC	0.512												
ADAM21	8747	broad.mit.edu	37	14	70924985	70924985	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:70924985G>T	uc001xmd.2	+	1	769	c.769G>T	c.(769-771)GGA>TGA	p.G257*		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	257	Peptidase M12B.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)|skin(1)	2				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AATTTTGATTGGAATTGAAAT	0.368												
PCNX	22990	broad.mit.edu	37	14	71462617	71462617	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:71462617C>T	uc001xmo.2	+	8	3050	c.2604C>T	c.(2602-2604)GGC>GGT	p.G868G	PCNX_uc001xmn.3_Intron|PCNX_uc010are.1_Intron	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	868						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTGCTGTAGGCGGTAGCAGTT	0.468												
RGS6	9628	broad.mit.edu	37	14	72924983	72924983	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:72924983A>G	uc001xna.3	+	5	763	c.240A>G	c.(238-240)GAA>GAG	p.E80E	RGS6_uc010ttn.1_Silent_p.E80E|RGS6_uc001xmx.3_Silent_p.E80E|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Silent_p.E80E|RGS6_uc010ttp.1_Silent_p.E11E|RGS6_uc001xmz.1_5'Flank|RGS6_uc010arg.2_RNA	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	80	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TTACAGTTGAAGCAATACACT	0.458												
HEATR4	399671	broad.mit.edu	37	14	73985802	73985802	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:73985802G>A	uc010tub.1	-	5	1457	c.1135C>T	c.(1135-1137)CGG>TGG	p.R379W	HEATR4_uc010tua.1_Missense_Mutation_p.R332W	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TTGTTGTACCGATTTAGGTTT	0.458												
FAM161B	145483	broad.mit.edu	37	14	74401052	74401052	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:74401052A>G	uc001xpd.1	-	9	1957	c.1851T>C	c.(1849-1851)GGT>GGC	p.G617G		NM_152445	NP_689658			hypothetical protein LOC145483											ovary(1)	1						ATCCTTCTAAACCCTGCTCTG	0.368												
KIAA0317	9870	broad.mit.edu	37	14	75130505	75130505	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:75130505G>T	uc001xqb.2	-	20	2895	c.2390C>A	c.(2389-2391)CCT>CAT	p.P797H		NM_001039479	NP_001034568	O15033	K0317_HUMAN	hypothetical protein LOC9870	797	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00404)		GTCATATGTAGGGAGGCACAG	0.532												
RPS6KL1	83694	broad.mit.edu	37	14	75373805	75373805	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:75373805C>T	uc010tux.1	-	11	2090	c.1562G>A	c.(1561-1563)CGG>CAG	p.R521Q	RPS6KL1_uc001xqx.1_3'UTR|RPS6KL1_uc001xqw.2_Missense_Mutation_p.R490Q|RPS6KL1_uc010asd.1_RNA	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	521	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GCCCAGGCGCCGGGTAGGCTC	0.602												
RPS6KL1	83694	broad.mit.edu	37	14	75376763	75376763	+	Silent	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:75376763A>C	uc010tux.1	-	7	1281	c.753T>G	c.(751-753)GCT>GCG	p.A251A	RPS6KL1_uc001xqx.1_Silent_p.A3A|RPS6KL1_uc001xqw.2_Silent_p.A220A|RPS6KL1_uc010asd.1_RNA	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	251	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GGTTGAGCTGAGCCTTCATCC	0.642												
NEK9	91754	broad.mit.edu	37	14	75580066	75580066	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:75580066C>T	uc001xrl.2	-	8	1068	c.914G>A	c.(913-915)CGC>CAC	p.R305H	NEK9_uc001xrk.2_5'UTR	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	305	Protein kinase.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(2)|stomach(2)|ovary(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00718)		GAGAAGAGGGCGATCTAGAAG	0.398												
KIAA1737	85457	broad.mit.edu	37	14	77576173	77576173	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:77576173T>C	uc001xtd.2	+	3	334	c.155T>C	c.(154-156)CTG>CCG	p.L52P	KIAA1737_uc001xtc.1_5'UTR	NM_033426	NP_219494	Q9C0C6	K1737_HUMAN	KIAA1737 protein	52											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		TCGGAATGTCTGAGCTCTGCA	0.443												
GSTZ1	2954	broad.mit.edu	37	14	77794336	77794336	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:77794336C>T	uc001xtj.2	+	5	580	c.298C>T	c.(298-300)CGT>TGT	p.R100C	GSTZ1_uc001xtk.2_Intron|GSTZ1_uc010ass.2_Missense_Mutation_p.R45C|GSTZ1_uc001xtm.2_Missense_Mutation_p.R45C	NM_145870	NP_665877	O43708	MAAI_HUMAN	glutathione transferase zeta 1 isoform 1	100	GST C-terminal.				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	GGCCAGCGTGCGTATGATTTC	0.567												
NRXN3	9369	broad.mit.edu	37	14	79175585	79175585	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:79175585G>A	uc001xun.2	+	4	619	c.128G>A	c.(127-129)CGT>CAT	p.R43H	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.R177H	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	416	Laminin G-like 2.|Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AATGACATCCGTCTGGAGCTG	0.468												
NRXN3	9369	broad.mit.edu	37	14	80164262	80164262	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:80164262C>T	uc001xun.2	+	15	3278	c.2787C>T	c.(2785-2787)CGC>CGT	p.R929R	NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Silent_p.R297R|NRXN3_uc010asw.2_Silent_p.R327R|NRXN3_uc001xur.3_Silent_p.R297R	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	1302	Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTAAGAATCGCTCTACAGCCA	0.418												
EML5	161436	broad.mit.edu	37	14	89091345	89091345	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:89091345C>T	uc001xxg.2	-	36	5053	c.4867G>A	c.(4867-4869)GGA>AGA	p.G1623R	EML5_uc001xxf.2_Missense_Mutation_p.G410R|EML5_uc001xxh.1_Missense_Mutation_p.G754R	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	1615	WD 24.					cytoplasm|microtubule				ovary(3)	3						ACGATAAGTCCATCTCGCAGG	0.463												
EML5	161436	broad.mit.edu	37	14	89202717	89202717	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:89202717C>T	uc001xxg.2	-	8	1226	c.1040G>A	c.(1039-1041)CGT>CAT	p.R347H		NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	347	WD 7.					cytoplasm|microtubule				ovary(3)	3						CCTGACCGAACGATCATCACT	0.328												
C14orf102	55051	broad.mit.edu	37	14	90783003	90783003	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:90783003C>T	uc001xyi.1	-	3	357	c.326G>A	c.(325-327)AGG>AAG	p.R109K	C14orf102_uc001xyj.1_Intron	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	109	Poly-Ser.|Potential.						protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		TGTCTCAGACCTGCTGCTACT	0.313												
TC2N	123036	broad.mit.edu	37	14	92258779	92258779	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:92258779A>G	uc001xzu.3	-	9	1170	c.979T>C	c.(979-981)TCA>CCA	p.S327P	TC2N_uc001xzt.3_Missense_Mutation_p.S327P|TC2N_uc010auc.2_Intron|TC2N_uc001xzv.3_Missense_Mutation_p.S327P	NM_001128595	NP_001122067	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	327						nucleus				upper_aerodigestive_tract(1)	1				COAD - Colon adenocarcinoma(157;0.218)		GTTCTGAGTGACATTGAGCAT	0.343												
IFI27L1	122509	broad.mit.edu	37	14	94568188	94568188	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:94568188G>A	uc001ycl.2	+	4	298	c.90G>A	c.(88-90)GCG>GCA	p.A30A	IFI27L1_uc001yck.2_Silent_p.A30A	NM_206949	NP_996832	Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	30	Helical; (Potential).					integral to membrane					0						TGCTCGTGGCGCTCAGTGCCA	0.612												
EML1	2009	broad.mit.edu	37	14	100380551	100380551	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:100380551C>T	uc001ygs.2	+	14	1599	c.1530C>T	c.(1528-1530)GCC>GCT	p.A510A	EML1_uc010tww.1_Silent_p.A498A|EML1_uc001ygr.2_Silent_p.A529A	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	510						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GGACAGTGGCCGAGGGGAAAG	0.453												
YY1	7528	broad.mit.edu	37	14	100728744	100728744	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:100728744T>C	uc001ygy.1	+	2	1263	c.783T>C	c.(781-783)CCT>CCC	p.P261P		NM_003403	NP_003394	P25490	TYY1_HUMAN	YY1 transcription factor	261	Involved in nuclear matrix association.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding				0		Melanoma(154;0.152)				AGAAACTTCCTCCTGGAGGAA	0.368												
ZNF839	55778	broad.mit.edu	37	14	102792994	102792994	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:102792994T>C	uc001ylo.2	+	2	963	c.613T>C	c.(613-615)TCA>CCA	p.S205P	ZNF839_uc010awk.1_Missense_Mutation_p.S321P|ZNF839_uc001ylp.2_RNA|ZNF839_uc001ylq.1_Missense_Mutation_p.S205P|ZNF839_uc001ylr.2_Missense_Mutation_p.S205P	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN	zinc finger protein 839	205	C2H2-type.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)	2						TTGTGAAAAGTCATATATAGG	0.512												
C14orf73	91828	broad.mit.edu	37	14	103571411	103571411	+	Splice_Site	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:103571411T>C	uc001ymk.2	+	6	1542	c.1466_splice	c.e6+2	p.R489_splice		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	hypothetical protein LOC91828												0		Melanoma(154;0.155)	Epithelial(46;0.221)			GGAGCTCAGGTAGGGCTCGCC	0.711											OREG0022947	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
EIF5	1983	broad.mit.edu	37	14	103802217	103802217	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:103802217G>T	uc001ymq.2	+	3	542	c.20G>T	c.(19-21)CGC>CTC	p.R7L	EIF5_uc001ymr.2_Missense_Mutation_p.R7L|EIF5_uc001yms.2_Missense_Mutation_p.R7L|EIF5_uc001ymt.2_Missense_Mutation_p.R7L|EIF5_uc001ymu.2_Missense_Mutation_p.R7L|SNORA28_uc001ymv.1_5'Flank	NM_001969	NP_001960	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	7					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			pancreas(1)|breast(1)|skin(1)	3		Melanoma(154;0.155)	Epithelial(46;0.182)			AATGTCAACCGCAGCGTGTCA	0.388												
EIF5	1983	broad.mit.edu	37	14	103802238	103802238	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:103802238A>G	uc001ymq.2	+	3	563	c.41A>G	c.(40-42)TAT>TGT	p.Y14C	EIF5_uc001ymr.2_Missense_Mutation_p.Y14C|EIF5_uc001yms.2_Missense_Mutation_p.Y14C|EIF5_uc001ymt.2_Missense_Mutation_p.Y14C|EIF5_uc001ymu.2_Missense_Mutation_p.Y14C|SNORA28_uc001ymv.1_5'Flank	NM_001969	NP_001960	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	14					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			pancreas(1)|breast(1)|skin(1)	3		Melanoma(154;0.155)	Epithelial(46;0.182)			GACCAGTTCTATCGCTACAAG	0.388												
KLC1	3831	broad.mit.edu	37	14	104129110	104129110	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:104129110A>G	uc001yno.2	+	5	951	c.643A>G	c.(643-645)ACG>GCG	p.T215A	KLC1_uc010tyd.1_Missense_Mutation_p.T374A|KLC1_uc010tye.1_Missense_Mutation_p.T211A|KLC1_uc001ynm.1_Missense_Mutation_p.T215A|KLC1_uc001ynn.1_Missense_Mutation_p.T211A|KLC1_uc010tyf.1_Missense_Mutation_p.T215A	NM_182923	NP_891553	Q07866	KLC1_HUMAN	kinesin light chain 1 isoform 2	215	TPR 1.				blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0		Melanoma(154;0.155)|all_epithelial(191;0.19)				GCGGCTGCGGACGCTCCACAA	0.657												
AHNAK2	113146	broad.mit.edu	37	14	105406625	105406625	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:105406625C>T	uc010axc.1	-	7	15283	c.15163G>A	c.(15163-15165)GGG>AGG	p.G5055R	AHNAK2_uc001ypx.2_Missense_Mutation_p.G4955R	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5055						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AAGCTACCCCCTGCTGTGGCA	0.542												
AHNAK2	113146	broad.mit.edu	37	14	105410125	105410125	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:105410125T>G	uc010axc.1	-	7	11783	c.11663A>C	c.(11662-11664)AAG>ACG	p.K3888T	AHNAK2_uc001ypx.2_Missense_Mutation_p.K3788T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3888						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATCTGCACCTTGGGCAGGTG	0.592												
NDN	4692	broad.mit.edu	37	15	23931581	23931581	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:23931581A>G	uc001ywk.2	-	1	870	c.784T>C	c.(784-786)TGG>CGG	p.W262R		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	262	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CGGGAGCCCCAAAAGAACTCG	0.577									Prader-Willi_syndrome			
SNRPN	6638	broad.mit.edu	37	15	25220628	25220628	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:25220628T>C	uc001ywp.1	+	8	1017	c.127T>C	c.(127-129)TGT>CGT	p.C43R	SNRPN_uc001ywq.1_Missense_Mutation_p.C43R|SNRPN_uc001ywr.1_Missense_Mutation_p.C43R|SNRPN_uc001yws.1_Missense_Mutation_p.C43R|SNRPN_uc001ywt.1_Missense_Mutation_p.C43R|SNRPN_uc001ywv.1_Missense_Mutation_p.C46R|SNRPN_uc001yww.1_Missense_Mutation_p.C43R|SNRPN_uc001ywx.1_Missense_Mutation_p.C43R|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	NM_022807	NP_073718	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	43				Missing (in Ref. 8).	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TTTGATCCTCTGTGATTGTGA	0.463									Prader-Willi_syndrome			
OCA2	4948	broad.mit.edu	37	15	28202861	28202861	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:28202861C>T	uc001zbh.3	-	16	1767	c.1657G>A	c.(1657-1659)GTC>ATC	p.V553I	OCA2_uc010ayv.2_Missense_Mutation_p.V529I	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	553	Cytoplasmic (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGCGCCAGACGTGAATCTCG	0.617									Oculocutaneous_Albinism			
HERC2	8924	broad.mit.edu	37	15	28413691	28413691	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:28413691C>T	uc001zbj.2	-	67	10381	c.10275G>A	c.(10273-10275)CCG>CCA	p.P3425P		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3425					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)		GGCACTCCACCGGGGCGATCA	0.617												
FMN1	342184	broad.mit.edu	37	15	33261050	33261050	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:33261050A>C	uc001zhf.3	-	4	2183	c.2183T>G	c.(2182-2184)CTT>CGT	p.L728R		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	951	FH1.|Pro-rich.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TGGGGGTGCAAGTCCTGGGGG	0.537												
RYR3	6263	broad.mit.edu	37	15	34064222	34064222	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:34064222T>G	uc001zhi.2	+	63	8988	c.8918T>G	c.(8917-8919)CTT>CGT	p.L2973R	RYR3_uc010bar.2_Missense_Mutation_p.L2973R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2973	Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AACCTGAAACTTGGGAAGTTC	0.463												
SPRED1	161742	broad.mit.edu	37	15	38643558	38643558	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:38643558A>G	uc001zka.3	+	7	1363	c.1028A>G	c.(1027-1029)AAT>AGT	p.N343S		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	sprouty-related protein 1 with EVH-1 domain	343	SPR.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			ovary(2)|lung(2)|skin(1)	5		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GAAAGGTTTAATCATGAAGAA	0.398									Legius_syndrome			
PAK6	56924	broad.mit.edu	37	15	40564623	40564623	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:40564623C>T	uc010bbl.2	+	6	1497	c.1057C>T	c.(1057-1059)CGC>TGC	p.R353C	PAK6_uc010bbm.2_Missense_Mutation_p.R353C|PAK6_uc001zky.3_Missense_Mutation_p.R353C|PAK6_uc010bbn.2_Missense_Mutation_p.R353C|PAK6_uc001zlb.2_Missense_Mutation_p.R353C	NM_001128628	NP_001122100	Q9NQU5	PAK6_HUMAN	p21-activated kinase 6	353	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(5)|large_intestine(1)|ovary(1)|skin(1)	8		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		GGGATCCCCCCGCACCTGGCA	0.677												
PLCB2	5330	broad.mit.edu	37	15	40590804	40590804	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:40590804T>A	uc001zld.2	-	10	1257	c.956A>T	c.(955-957)AAT>ATT	p.N319I	PLCB2_uc010bbo.2_Missense_Mutation_p.N319I|PLCB2_uc010ucm.1_Missense_Mutation_p.N319I	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	319	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)|breast(3)|kidney(1)|pancreas(1)	8		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GAAGTAATGATTGAGTGGCTG	0.562												
C15orf52	388115	broad.mit.edu	37	15	40630826	40630826	+	Silent	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:40630826T>G	uc001zlh.3	-	5	571	c.555A>C	c.(553-555)GCA>GCC	p.A185A	C15orf52_uc001zli.1_Silent_p.A117A|C15orf52_uc010ucn.1_5'Flank	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	hypothetical protein LOC388115	185										large_intestine(1)	1		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CTTGGTTCCTTGCTCTGGTAG	0.602											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CASC5	57082	broad.mit.edu	37	15	40911163	40911163	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:40911163A>G	uc010bbs.1	+	10	568	c.407A>G	c.(406-408)AAC>AGC	p.N136S	CASC5_uc010ucq.1_Intron|CASC5_uc001zme.2_Missense_Mutation_p.N110S|CASC5_uc010bbt.1_Missense_Mutation_p.N110S	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	136	Interaction with BUB1 and BUB1B.				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)		ATAGGGATGAACACATTGCTT	0.333												
VPS18	57617	broad.mit.edu	37	15	41192619	41192619	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:41192619T>A	uc001zne.2	+	4	1942	c.1603T>A	c.(1603-1605)TGG>AGG	p.W535R		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	535					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCACAAAGAGTGGCTCTTTGC	0.587												
SPTBN5	51332	broad.mit.edu	37	15	42148707	42148707	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:42148707G>A	uc001zos.2	-	53	9126	c.8793C>T	c.(8791-8793)GCC>GCT	p.A2931A		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2966	Spectrin 26.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCTCGTGGGCGGCAAAGTGCC	0.701												
GANC	2595	broad.mit.edu	37	15	42641615	42641615	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:42641615G>A	uc001zpi.2	+	22	2767	c.2453G>A	c.(2452-2454)GGC>GAC	p.G818D	CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_5'UTR	NM_198141	NP_937784	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	818					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			central_nervous_system(2)	2		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		CTTGATGATGGCCATTCATTC	0.398												
ZFP106	64397	broad.mit.edu	37	15	42734562	42734562	+	Nonsense_Mutation	SNP	G	G	A	rs141505106	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:42734562G>A	uc001zpw.2	-	7	3738	c.3403C>T	c.(3403-3405)CGA>TGA	p.R1135*	ZFP106_uc001zpu.2_Nonsense_Mutation_p.R320*|ZFP106_uc001zpv.2_Nonsense_Mutation_p.R320*|ZFP106_uc001zpx.2_Nonsense_Mutation_p.R363*	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	1135						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		CTTCGTTCTCGTGTGAGGCTA	0.448												
LCMT2	9836	broad.mit.edu	37	15	43622543	43622543	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:43622543C>T	uc001zrg.2	-	1	349	c.145G>A	c.(145-147)GCA>ACA	p.A49T	LCMT2_uc010udn.1_Intron|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	49					tRNA processing		methyltransferase activity|protein binding				0		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	ATGAGCGGTGCGCGGCGCGCC	0.711												
ELL3	80237	broad.mit.edu	37	15	44065384	44065384	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:44065384T>C	uc001zsw.1	-	11	1527	c.1124A>G	c.(1123-1125)TAC>TGC	p.Y375C	ELL3_uc001zsv.1_Missense_Mutation_p.Y329C|ELL3_uc001zsx.1_Missense_Mutation_p.Y259C	NM_025165	NP_079441	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	375					positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				ovary(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CTGGTGAAGGTACTCACAGCG	0.428												
SPG11	80208	broad.mit.edu	37	15	44944003	44944003	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:44944003A>G	uc001ztx.2	-	6	1173	c.1142T>C	c.(1141-1143)GTG>GCG	p.V381A	SPG11_uc010ueh.1_Missense_Mutation_p.V381A|SPG11_uc010uei.1_Missense_Mutation_p.V381A|SPG11_uc001zua.1_Missense_Mutation_p.V381A	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	381	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CCAGCTCTGCACACTTGTACT	0.438												
TRIM69	140691	broad.mit.edu	37	15	45059837	45059837	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:45059837A>G	uc001zuf.2	+	8	2265	c.1370A>G	c.(1369-1371)TAC>TGC	p.Y457C	TRIM69_uc001zui.1_Missense_Mutation_p.Y253C|TRIM69_uc010bdy.1_Missense_Mutation_p.Y236C|TRIM69_uc001zug.1_Missense_Mutation_p.Y457C|TRIM69_uc001zuh.1_Missense_Mutation_p.Y298C	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	tripartite motif-containing 69 isoform a	457	B30.2/SPRY.				apoptosis	nuclear speck	zinc ion binding				0		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TTGTCCTTCTACAATGCTAAA	0.433												
SLC12A1	6557	broad.mit.edu	37	15	48543969	48543969	+	Splice_Site	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:48543969T>G	uc001zwn.3	+	15	2158	c.1942_splice	c.e15+2	p.D648_splice	SLC12A1_uc010uew.1_Splice_Site_p.D454_splice|SLC12A1_uc010bem.2_Splice_Site_p.D648_splice|SLC12A1_uc001zwq.3_Splice_Site_p.D419_splice|SLC12A1_uc001zwr.3_Splice_Site_p.D375_splice	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2						potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AGAAGCCAGGTAAGATAATGA	0.308												
FBN1	2200	broad.mit.edu	37	15	48725097	48725097	+	Silent	SNP	T	T	C	rs150858138	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:48725097T>C	uc001zwx.1	-	55	7033	c.6705A>G	c.(6703-6705)GGA>GGG	p.G2235G	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2235	EGF-like 38; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGAGCACATATCCCACGGGAC	0.478												
FBN1	2200	broad.mit.edu	37	15	48936816	48936816	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:48936816C>T	uc001zwx.1	-	2	479	c.151G>A	c.(151-153)GAC>AAC	p.D51N		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	51					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTAAGCGCGTCGTGTCCTCCA	0.577												
KIAA1370	56204	broad.mit.edu	37	15	52901974	52901974	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:52901974T>C	uc002acg.3	-	6	1290	c.1137A>G	c.(1135-1137)CAA>CAG	p.Q379Q	KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Silent_p.Q291Q|KIAA1370_uc010ugf.1_Silent_p.Q386Q	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	hypothetical protein LOC56204	379											0				all cancers(107;0.0803)		GAATCAAATGTTGGGCAATTC	0.423												
ONECUT1	3175	broad.mit.edu	37	15	53081473	53081473	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:53081473C>T	uc002aci.1	-	1	737	c.609G>A	c.(607-609)CCG>CCA	p.P203P		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	203					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding				0				all cancers(107;0.0708)		TGGCGGCCCCCGGGTGGGCAT	0.706												
CCPG1	9236	broad.mit.edu	37	15	55657475	55657475	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:55657475C>G	uc002acv.1	-	7	904	c.739G>C	c.(739-741)GTC>CTC	p.V247L	CCPG1_uc002acy.2_Missense_Mutation_p.V247L|CCPG1_uc002acu.1_Missense_Mutation_p.V103L|CCPG1_uc002acw.1_Intron|CCPG1_uc002acx.2_Missense_Mutation_p.V247L|CCPG1_uc010bfk.1_Missense_Mutation_p.V247L|CCPG1_uc002acz.1_Missense_Mutation_p.V247L	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1 isoform 2	247	Lumenal (Potential).|Interaction with MCF2L and SRC (By similarity).				cell cycle	integral to membrane				ovary(1)	1				all cancers(107;0.0354)		ATCTTTCTGACTAACTGTTGA	0.234												
RFX7	64864	broad.mit.edu	37	15	56393577	56393577	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:56393577A>G	uc010bfn.2	-	7	791	c.791T>C	c.(790-792)GTA>GCA	p.V264A	RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Missense_Mutation_p.V78A	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	regulatory factor X domain containing 2	167					regulation of transcription, DNA-dependent	nucleus	DNA binding				0						TGCTGCCATTACAGTTAGAGC	0.403												
ANXA2	302	broad.mit.edu	37	15	60641385	60641385	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:60641385C>T	uc002agn.2	-	13	1009	c.849G>A	c.(847-849)ACG>ACA	p.T283T	ANXA2_uc002agk.2_Silent_p.T283T|ANXA2_uc002agl.2_Silent_p.T283T|ANXA2_uc002agm.2_Silent_p.T301T|ANXA2_uc010uhd.1_Intron	NM_001136015	NP_001129487	P07355	ANXA2_HUMAN	annexin A2 isoform 2	283	Annexin 4.				angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			ovary(1)	1					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	CCTTATCTCGCGTCCCCTTGC	0.368												
VPS13C	54832	broad.mit.edu	37	15	62238081	62238081	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:62238081C>T	uc002agz.2	-	45	5055	c.4981G>A	c.(4981-4983)GCT>ACT	p.A1661T	VPS13C_uc002aha.2_Missense_Mutation_p.A1618T|VPS13C_uc002ahb.1_Missense_Mutation_p.A1661T|VPS13C_uc002ahc.1_Missense_Mutation_p.A1618T	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	1661					protein localization					ovary(2)	2						ATAGAGACAGCCTAAAAGTAT	0.363												
ZNF609	23060	broad.mit.edu	37	15	64970450	64970450	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:64970450A>G	uc002ann.2	+	5	3538	c.3538A>G	c.(3538-3540)AAG>GAG	p.K1180E		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	1180						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						CTCTGTCCCCAAGGAAGATGG	0.567												
AAGAB	79719	broad.mit.edu	37	15	67528769	67528769	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:67528769A>G	uc002aqk.3	-	3	443	c.338T>C	c.(337-339)GTC>GCC	p.V113A	AAGAB_uc002aql.2_Missense_Mutation_p.V4A|AAGAB_uc010uju.1_Missense_Mutation_p.V4A	NM_024666	NP_078942	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin-binding protein p34	113					protein transport	cytoplasm					0						TCTATCGCAGACCAAGATCAT	0.428												
PAQR5	54852	broad.mit.edu	37	15	69682068	69682068	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:69682068C>T	uc002arz.2	+	6	839	c.461C>T	c.(460-462)GCC>GTC	p.A154V	PAQR5_uc002asa.2_Missense_Mutation_p.A154V	NM_017705	NP_060175	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	154	Helical; Name=4; (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			ovary(2)	2						TACTACGTGGCCCTGGCTGTA	0.582												
KIF23	9493	broad.mit.edu	37	15	69728066	69728066	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:69728066A>G	uc002asb.2	+	12	1345	c.1228A>G	c.(1228-1230)ATC>GTC	p.I410V	KIF23_uc002asc.2_Missense_Mutation_p.I410V|KIF23_uc010bii.2_Missense_Mutation_p.I300V|KIF23_uc010ukc.1_Missense_Mutation_p.I227V|KIF23_uc010bih.1_RNA	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	410					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0						AGTGCGGATGATCGTGTGTGT	0.368												
PARP6	56965	broad.mit.edu	37	15	72541618	72541618	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:72541618C>T	uc002auc.2	-	19	1988	c.1529G>A	c.(1528-1530)AGC>AAC	p.S510N	PARP6_uc002aua.2_Missense_Mutation_p.S356N|PARP6_uc002aub.2_Intron|PARP6_uc002aud.3_Intron|PARP6_uc002auf.1_Missense_Mutation_p.S511N	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	510	PARP catalytic.						NAD+ ADP-ribosyltransferase activity				0						GGAGATGGGGCTCAGGTAGAT	0.463												
NEO1	4756	broad.mit.edu	37	15	73418845	73418845	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:73418845T>C	uc002avm.3	+	4	954	c.812T>C	c.(811-813)GTT>GCT	p.V271A	NEO1_uc010ukx.1_Missense_Mutation_p.V271A|NEO1_uc010uky.1_Missense_Mutation_p.V271A|NEO1_uc010ukz.1_5'UTR	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	271	Extracellular (Potential).|Ig-like C2-type 3.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						TTGCCATGTGTTGCTTCAGGA	0.413												
FBXO22	26263	broad.mit.edu	37	15	76222249	76222249	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:76222249G>A	uc002bbk.2	+	6	758	c.653G>A	c.(652-654)CGT>CAT	p.R218H	FBXO22_uc002bbj.1_Missense_Mutation_p.R218H|FBXO22_uc002bbl.2_Missense_Mutation_p.R114H	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	F-box only protein 22 isoform a	218					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity				0						CCTGAACTTCGTGTGGTCCTT	0.373												
MEX3B	84206	broad.mit.edu	37	15	82336434	82336434	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:82336434G>A	uc002bgq.1	-	2	1092	c.777C>T	c.(775-777)TCC>TCT	p.S259S		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	259					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2						TGCCTGGGCCGGACCCGCCGG	0.652												
ALPK3	57538	broad.mit.edu	37	15	85360124	85360124	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:85360124C>T	uc002ble.2	+	1	214	c.47C>T	c.(46-48)GCG>GTG	p.A16V		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	16					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAGCCACTGGCGAGGCAAGGC	0.448												
ISG20	3669	broad.mit.edu	37	15	89195456	89195456	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:89195456T>G	uc002bmv.1	+	3	637	c.344T>G	c.(343-345)CTG>CGG	p.L115R	ISG20_uc002bmu.1_RNA|ISG20_uc002bmw.1_RNA|ISG20_uc010upn.1_RNA	NM_002201	NP_002192	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease	115					cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity				0	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			ACTGACAGGCTGTTGTGGCGT	0.557												
RHCG	51458	broad.mit.edu	37	15	90023542	90023542	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:90023542C>A	uc002bnz.2	-	4	644	c.620G>T	c.(619-621)AGC>ATC	p.S207I	RHCG_uc002bny.2_5'Flank|RHCG_uc002boa.2_RNA|RHCG_uc010bnq.1_Missense_Mutation_p.S91I	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	207	Cytoplasmic (Potential).				amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			kidney(1)	1	Lung NSC(78;0.0237)|all_lung(78;0.0478)					TCTCTCCTTGCTCTGCTCTAG	0.557												
AP3S2	10239	broad.mit.edu	37	15	90454008	90454008	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:90454008G>A	uc002bos.3	-	2	291	c.136C>T	c.(136-138)CGG>TGG	p.R46W	C15orf38_uc002bot.1_RNA|C15orf38_uc002bou.2_Missense_Mutation_p.R46W	NM_182616	NP_872422	P59780	AP3S2_HUMAN	hypothetical protein LOC348110	Error:Variant_position_missing_in_P59780_after_alignment					intracellular protein transport|vesicle-mediated transport	cytoplasmic vesicle membrane|Golgi apparatus|membrane coat	protein transporter activity				0	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			ATGCTGTGCCGAGATACATCG	0.522												
PRC1	9055	broad.mit.edu	37	15	91524789	91524789	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:91524789G>A	uc002bqm.2	-	5	769	c.612C>T	c.(610-612)GAC>GAT	p.D204D	PRC1_uc002bqn.2_Silent_p.D204D|PRC1_uc002bqo.2_Silent_p.D204D|PRC1_uc010uqs.1_Silent_p.D163D|PRC1_uc010uqt.1_Silent_p.D152D	NM_003981	NP_003972	O43663	PRC1_HUMAN	protein regulator of cytokinesis 1 isoform 1	204	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			ovary(1)|skin(1)	2	Lung NSC(78;0.0987)|all_lung(78;0.175)					AGGCATCTTCGTCTTCACACA	0.423												
PGPEP1L	145814	broad.mit.edu	37	15	99514341	99514341	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:99514341C>T	uc002bum.2	-	3	274	c.68G>A	c.(67-69)CGG>CAG	p.R23Q	PGPEP1L_uc010bop.2_5'UTR|PGPEP1L_uc002bun.2_RNA	NM_001102612	NP_001096082	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase 1-like protein	23					proteolysis		cysteine-type peptidase activity				0						CTCCAGAGTCCGCAGCTGCAC	0.612												
ADAMTS17	170691	broad.mit.edu	37	15	100636574	100636574	+	Silent	SNP	G	G	A	rs142335314		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:100636574G>A	uc002bvv.1	-	15	2203	c.2124C>T	c.(2122-2124)CAC>CAT	p.H708H	ADAMTS17_uc002bvx.1_Silent_p.H465H	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	708	Spacer.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TCCCCCGGGCGTGGCTGAAGT	0.587												
NPRL3	8131	broad.mit.edu	37	16	138812	138812	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:138812C>T	uc002cfr.2	-	13	1527	c.1428G>A	c.(1426-1428)TCG>TCA	p.S476S	NPRL3_uc010uua.1_RNA|NPRL3_uc002cfp.1_RNA|NPRL3_uc002cfq.2_Silent_p.S297S|NPRL3_uc010uub.1_Silent_p.S451S|NPRL3_uc010uuc.1_Silent_p.S398S|NPRL3_uc002cfs.1_Silent_p.S451S	NM_001077350	NP_001070818	Q12980	NPRL3_HUMAN	conserved gene telomeric to alpha globin cluster	476							protein binding			ovary(1)	1						GGTTCAGTGGCGAGTCCCCGC	0.632												
MSLN	10232	broad.mit.edu	37	16	816649	816649	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:816649T>C	uc002cjw.1	+	13	1287	c.1236T>C	c.(1234-1236)CCT>CCC	p.P412P	MSLN_uc002cjt.1_Intron|MSLN_uc002cju.1_Intron|MSLN_uc010brd.1_Intron|MSLN_uc002cjv.1_Intron|MSLN_uc002cjx.1_Intron|MSLN_uc002cjy.1_Intron	NM_013404	NP_037536	Q13421	MSLN_HUMAN	mesothelin isoform 2 preproprotein	412					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				pancreas(1)	1		Hepatocellular(780;0.00335)				ACAAGGCTCCTCGGCGGCCCC	0.637												
BAIAP3	8938	broad.mit.edu	37	16	1392275	1392275	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:1392275A>G	uc002clk.1	+	11	1053	c.1053A>G	c.(1051-1053)ATA>ATG	p.I351M	BAIAP3_uc002clj.2_Missense_Mutation_p.I333M|BAIAP3_uc010uuz.1_Missense_Mutation_p.I316M|BAIAP3_uc010uva.1_Missense_Mutation_p.I288M|BAIAP3_uc010uvb.1_Missense_Mutation_p.I368M|BAIAP3_uc010uvc.1_Missense_Mutation_p.I316M	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	351					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				GCCTCAACATACCTGTCCGGG	0.622												
TSC2	7249	broad.mit.edu	37	16	2106665	2106665	+	Silent	SNP	C	C	T	rs35501344		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:2106665C>T	uc002con.2	+	8	775	c.669C>T	c.(667-669)GAC>GAT	p.D223D	TSC2_uc010bsd.2_Silent_p.D223D|TSC2_uc002coo.2_Silent_p.D223D|TSC2_uc010uvv.1_Silent_p.D186D|TSC2_uc010uvw.1_Silent_p.D174D|TSC2_uc002cop.2_Silent_p.D23D	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	223	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	p.D223N(1)		central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				AGGTGCTGGACGCCGTGGTCT	0.642			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis			
TRAF7	84231	broad.mit.edu	37	16	2223954	2223954	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:2223954G>A	uc002cow.2	+	13	1267	c.1168G>A	c.(1168-1170)GGG>AGG	p.G390R		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7	390					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						CAAGTGCAAAGGGACCTTTGT	0.632												
PGP	283871	broad.mit.edu	37	16	2263803	2263803	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:2263803C>T	uc002cpk.1	-	2	936	c.892G>A	c.(892-894)GTG>ATG	p.V298M	C16orf79_uc002cpi.1_5'Flank|C16orf79_uc010bsh.2_5'Flank|PGP_uc010uvz.1_RNA	NM_001042371	NP_001035830	A6NDG6	PGP_HUMAN	phosphoglycolate phosphatase	298					carbohydrate metabolic process		phosphoglycolate phosphatase activity			skin(1)	1						TTCTTAGACACGCAGTCACTT	0.488												
PRSS27	83886	broad.mit.edu	37	16	2763683	2763683	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:2763683C>T	uc002crf.2	-	5	916	c.525G>A	c.(523-525)CCG>CCA	p.P175P	PRSS27_uc002cre.2_Silent_p.P139P|PRSS27_uc002crg.2_Silent_p.P73P|PRSS27_uc010bst.1_Silent_p.P73P	NM_031948	NP_114154	Q9BQR3	PRS27_HUMAN	marapsin precursor	175	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1						GCAGGATCCGCGGTTCGGGCA	0.597												
MEFV	4210	broad.mit.edu	37	16	3299587	3299587	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:3299587G>A	uc002cun.1	-	3	1144	c.1104C>T	c.(1102-1104)AGC>AGT	p.S368S		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	368					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)	GGGGCTGGGGGCTTAGGCTTC	0.642												
BTBD12	84464	broad.mit.edu	37	16	3640962	3640962	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:3640962C>A	uc002cvp.2	-	12	3304	c.2677G>T	c.(2677-2679)GGT>TGT	p.G893C		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	893	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						ACCTGGACACCTGCTAGGAGT	0.612								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia			
CREBBP	1387	broad.mit.edu	37	16	3781793	3781793	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:3781793A>G	uc002cvv.2	-	29	5078	c.4874T>C	c.(4873-4875)ATG>ACG	p.M1625T	CREBBP_uc002cvw.2_Missense_Mutation_p.M1587T	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1625	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.M1625L(1)		haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTGCTTCTCCATGGTGGCATA	0.507			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
SRL	6345	broad.mit.edu	37	16	4247798	4247798	+	Splice_Site	SNP	A	A	G	rs112367857		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:4247798A>G	uc002cvz.3	-	4	389	c.376_splice	c.e4+1	p.G126_splice	SRL_uc002cvy.3_Splice_Site	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	sarcalumenin							sarcoplasmic reticulum lumen	GTP binding|GTPase activity			ovary(3)|skin(2)	5						AATATTGATTACCTGTATAGA	0.338												
TFAP4	7023	broad.mit.edu	37	16	4312555	4312555	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:4312555G>A	uc010uxg.1	-	2	491	c.237C>T	c.(235-237)GAC>GAT	p.D79D		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	79	Helix-loop-helix motif.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						GCTTCTCTCCGTCTGTGTGGG	0.622												
TFAP4	7023	broad.mit.edu	37	16	4322659	4322659	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:4322659C>A	uc010uxg.1	-	1	343	c.89G>T	c.(88-90)AGC>ATC	p.S30I		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	30					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						GAGTACACACCTACAGAGCCC	0.488												
CLEC16A	23274	broad.mit.edu	37	16	11219992	11219992	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:11219992A>G	uc002dao.2	+	22	2860	c.2630A>G	c.(2629-2631)GAC>GGC	p.D877G	CLEC16A_uc002dan.3_Missense_Mutation_p.D859G|CLEC16A_uc002dap.2_5'UTR	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	877										ovary(1)|central_nervous_system(1)	2						GCATCGGTGGACAAGGTGCCA	0.652												
PARN	5073	broad.mit.edu	37	16	14540793	14540793	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:14540793T>C	uc010uzd.1	-	23	1958	c.1816A>G	c.(1816-1818)AAA>GAA	p.K606E	PARN_uc010uzc.1_Missense_Mutation_p.K545E|PARN_uc010uze.1_Missense_Mutation_p.K560E|PARN_uc010uzf.1_Missense_Mutation_p.K431E	NM_002582	NP_002573	O95453	PARN_HUMAN	poly(A)-specific ribonuclease (deadenylation	606					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			ovary(2)	2						TTGGCCTTTTTCCTTCCCTCT	0.502												
XYLT1	64131	broad.mit.edu	37	16	17232375	17232375	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:17232375G>A	uc002dfa.2	-	8	1686	c.1601C>T	c.(1600-1602)ACG>ATG	p.T534M		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	534	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4						CTCCAGGACCGTATGGAAGAA	0.502												
LOC81691	81691	broad.mit.edu	37	16	20851786	20851786	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:20851786G>A	uc002dhv.2	+	15	1885	c.1622G>A	c.(1621-1623)CGT>CAT	p.R541H	ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Missense_Mutation_p.R541H|LOC81691_uc002dhw.2_Missense_Mutation_p.R284H|LOC81691_uc002dhy.3_Missense_Mutation_p.R541H	NM_030941	NP_112203	Q96IC2	REXON_HUMAN	exonuclease NEF-sp isoform 1	541	RRM 1.					nucleolus	exonuclease activity|nucleotide binding|RNA binding			ovary(1)|kidney(1)	2						CTTGAAACCCGTCAGGTAAGA	0.413												
DNAH3	55567	broad.mit.edu	37	16	21042529	21042529	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:21042529G>A	uc010vbe.1	-	37	5277	c.5277C>T	c.(5275-5277)TGC>TGT	p.C1759C		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1759	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CTTGGTCAAAGCACCCATACA	0.507												
DNAH3	55567	broad.mit.edu	37	16	21049222	21049222	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:21049222C>T	uc010vbe.1	-	34	4811	c.4811G>A	c.(4810-4812)CGC>CAC	p.R1604H		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1604	AAA 1 (By similarity).			YGMR -> FGLH (in Ref. 5; CAB06059).	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CTTGACAGCGCGCATACCGTA	0.522												
DNAH3	55567	broad.mit.edu	37	16	21109952	21109952	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:21109952C>T	uc010vbe.1	-	17	2505	c.2505G>A	c.(2503-2505)GCG>GCA	p.A835A		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	835	Stem (By similarity).|Potential.				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		ACTCTGCAAACGCCCGATTTA	0.403												
ZP2	7783	broad.mit.edu	37	16	21222833	21222833	+	Silent	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:21222833G>T	uc002dii.2	-	1	36	c.36C>A	c.(34-36)CCC>CCA	p.P12P	ZP2_uc010bwn.1_Silent_p.P51P|ZP2_uc010bwo.2_Silent_p.P51P	NM_003460	NP_003451	Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 preproprotein	12					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(48;0.0573)		ACCAGCCTGAGGGACTCCAAG	0.502												
ERN2	10595	broad.mit.edu	37	16	23706239	23706239	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:23706239T>C	uc002dma.3	-	17	2223	c.2054A>G	c.(2053-2055)GAC>GGC	p.D685G	ERN2_uc010bxp.2_Missense_Mutation_p.D633G	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signalling 2	637	Protein kinase.|Cytoplasmic (Potential).	Proton acceptor (By similarity).			apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TGGCTTCAGGTCCCGGTGCAC	0.632												
CACNG3	10368	broad.mit.edu	37	16	24372978	24372978	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:24372978T>C	uc002dmf.2	+	4	1942	c.742T>C	c.(742-744)TCC>CCC	p.S248P		NM_006539	NP_006530	O60359	CCG3_HUMAN	voltage-dependent calcium channel gamma-3	248					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0				GBM - Glioblastoma multiforme(48;0.0809)		CCGAGACCTGTCCCCCATCAG	0.577												
TNRC6A	27327	broad.mit.edu	37	16	24803058	24803058	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:24803058G>A	uc002dmm.2	+	6	3209	c.3095G>A	c.(3094-3096)CGT>CAT	p.R1032H	TNRC6A_uc010bxs.2_Missense_Mutation_p.R779H|TNRC6A_uc010vcc.1_Missense_Mutation_p.R779H|TNRC6A_uc002dmn.2_Missense_Mutation_p.R779H|TNRC6A_uc002dmo.2_Missense_Mutation_p.R779H	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1032	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)		GGCAACAGCCGTTCAGACCAG	0.443												
ZKSCAN2	342357	broad.mit.edu	37	16	25258442	25258442	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:25258442G>A	uc002dod.3	-	5	1482	c.1075C>T	c.(1075-1077)CGC>TGC	p.R359C	ZKSCAN2_uc010vcl.1_Missense_Mutation_p.R155C|ZKSCAN2_uc002doe.2_Missense_Mutation_p.R359C	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	359					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(1)	4				GBM - Glioblastoma multiforme(48;0.0378)		TCATAAAAGCGAGACTCTTTG	0.473												
GTF3C1	2975	broad.mit.edu	37	16	27523220	27523220	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:27523220T>C	uc002dov.1	-	7	1016	c.976A>G	c.(976-978)ACC>GCC	p.T326A	GTF3C1_uc002dou.2_Missense_Mutation_p.T326A	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	326						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						ATGACGTCGGTCCCTGGCAAC	0.537												
SULT1A2	6799	broad.mit.edu	37	16	28604855	28604855	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:28604855G>A	uc002dqg.1	-	5	758	c.407C>T	c.(406-408)GCG>GTG	p.A136V	uc010vct.1_Intron|SULT1A2_uc002dqh.1_Missense_Mutation_p.A136V	NM_177528	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A,	136	PAPS (By similarity).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0						GTAGGAAACCGCCACATCCTT	0.577												
ATXN2L	11273	broad.mit.edu	37	16	28845512	28845512	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:28845512C>A	uc002drc.2	+	16	2320	c.2152C>A	c.(2152-2154)CAC>AAC	p.H718N	uc010vct.1_Intron|ATXN2L_uc002drb.2_Missense_Mutation_p.H718N|ATXN2L_uc002dqy.2_Missense_Mutation_p.H718N|ATXN2L_uc002dra.2_Missense_Mutation_p.H718N|ATXN2L_uc002dqz.2_Missense_Mutation_p.H718N|ATXN2L_uc010vdb.1_Missense_Mutation_p.H724N|ATXN2L_uc002dre.2_Missense_Mutation_p.H718N|ATXN2L_uc002drf.2_Missense_Mutation_p.H127N|ATXN2L_uc002drg.2_5'UTR	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	718						membrane				upper_aerodigestive_tract(1)|ovary(1)	2						ACCTCAGATCCACATGGGACC	0.617												
TAOK2	9344	broad.mit.edu	37	16	29990346	29990346	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:29990346C>T	uc002dva.1	+	6	1187	c.404C>T	c.(403-405)GCG>GTG	p.A135V	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.A135V|TAOK2_uc002dvc.1_Missense_Mutation_p.A135V|TAOK2_uc010bzm.1_Missense_Mutation_p.A135V|TAOK2_uc002dvd.1_5'Flank	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	135	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						ACCCACGGGGCGCTTCAGGGC	0.587												
CORO1A	11151	broad.mit.edu	37	16	30199690	30199690	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:30199690G>A	uc002dww.2	+	10	1196	c.1074G>A	c.(1072-1074)CTG>CTA	p.L358L	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010bzq.2_Silent_p.L358L|CORO1A_uc010bzr.2_Intron|CORO1A_uc002dwx.2_Silent_p.L252L|CORO1A_uc002dwy.1_3'UTR|LOC606724_uc002dwz.1_5'Flank	NM_007074	NP_009005	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	358					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity				0						AGTCGGACCTGTTCCAGGAGG	0.672												
MYLPF	29895	broad.mit.edu	37	16	30387188	30387188	+	Silent	SNP	C	C	T	rs140103472		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:30387188C>T	uc002dxv.1	+	2	107	c.51C>T	c.(49-51)AGC>AGT	p.S17S		NM_013292	NP_037424	Q96A32	MLRS_HUMAN	myosin light chain, phosphorylatable, fast	17					skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle				0			Colorectal(24;0.193)			GAAGCTCCAGCGTCTTCTCCA	0.602												
SRCAP	10847	broad.mit.edu	37	16	30750440	30750440	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:30750440C>T	uc002dze.1	+	34	9464	c.9079C>T	c.(9079-9081)CGT>TGT	p.R3027C	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R2822C	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	3027					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CGTCTTGGACCGTGACAGCAC	0.607												
SETD1A	9739	broad.mit.edu	37	16	30970171	30970171	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:30970171A>G	uc002ead.1	+	2	805	c.119A>G	c.(118-120)TAC>TGC	p.Y40C	SETD1A_uc002eae.1_Missense_Mutation_p.Y40C	NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						CAGAAGGTGTACCGCTATGAT	0.607												
C16orf58	64755	broad.mit.edu	37	16	31502222	31502222	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:31502222C>A	uc002eci.1	-	13	1353	c.1341G>T	c.(1339-1341)AAG>AAT	p.K447N	C16orf58_uc002ecg.2_5'Flank|C16orf58_uc002ech.1_Missense_Mutation_p.K185N	NM_022744	NP_073581	Q96GQ5	CP058_HUMAN	hypothetical protein LOC64755	447						integral to membrane				ovary(1)|breast(1)	2						CTAGCTGGTGCTTCTCGGTCT	0.622												
ABCC12	94160	broad.mit.edu	37	16	48158156	48158156	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:48158156T>C	uc002efc.1	-	10	1901	c.1555A>G	c.(1555-1557)AAG>GAG	p.K519E	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.K519E	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	519	ABC transporter 1.|ATP 1 (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				AGGGAGCTCTTTCCACTTCCC	0.512												
ABCC11	85320	broad.mit.edu	37	16	48248902	48248902	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:48248902C>T	uc002eff.1	-	8	1488	c.1138G>A	c.(1138-1140)GGG>AGG	p.G380R	ABCC11_uc002efg.1_Missense_Mutation_p.G380R|ABCC11_uc002efh.1_Missense_Mutation_p.G380R|ABCC11_uc010vgk.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	380	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TGGACAAGCCCGCACTTCTCC	0.453									Cerumen_Type			
ABCC11	85320	broad.mit.edu	37	16	48249234	48249234	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:48249234C>T	uc002eff.1	-	7	1323	c.973G>A	c.(973-975)GTG>ATG	p.V325M	ABCC11_uc002efg.1_Missense_Mutation_p.V325M|ABCC11_uc002efh.1_Missense_Mutation_p.V325M|ABCC11_uc010vgk.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	325	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TGAGCCTTCACAGCCATTCTT	0.488									Cerumen_Type			
HEATR3	55027	broad.mit.edu	37	16	50102752	50102752	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:50102752A>C	uc002efw.2	+	3	535	c.373A>C	c.(373-375)ACC>CCC	p.T125P	HEATR3_uc002efx.2_Missense_Mutation_p.T39P	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	125							binding			ovary(1)|skin(1)	2						GGATATCATGACCCCTCTGGT	0.373												
NKD1	85407	broad.mit.edu	37	16	50667513	50667513	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:50667513G>T	uc002egg.1	+	10	1458	c.1234G>T	c.(1234-1236)GGC>TGC	p.G412C		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	naked cuticle homolog 1	412					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding				0		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GAGCCAGCAGGGCTGCCGGGG	0.726												
SNX20	124460	broad.mit.edu	37	16	50707351	50707351	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:50707351A>G	uc002egk.2	-	4	1090	c.917T>C	c.(916-918)CTG>CCG	p.L306P	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	sorting nexin 20 isoform 1	306					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			ovary(1)	1						GAGCTCCTTCAGGGTGATGCC	0.652												
CHD9	80205	broad.mit.edu	37	16	53190809	53190809	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:53190809T>A	uc002ehb.2	+	1	972	c.808T>A	c.(808-810)TTT>ATT	p.F270I	CHD9_uc002egy.2_Missense_Mutation_p.F270I|CHD9_uc002egz.1_Missense_Mutation_p.F270I|CHD9_uc002eha.1_Missense_Mutation_p.F270I|CHD9_uc002ehc.2_Missense_Mutation_p.F270I	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	270	Ser-rich.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				TTCACAGCAATTTTCTTCACA	0.368												
SLC6A2	6530	broad.mit.edu	37	16	55706069	55706069	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:55706069C>T	uc002eif.2	+	4	737	c.626C>T	c.(625-627)CCG>CTG	p.P209L	SLC6A2_uc010ccd.2_Missense_Mutation_p.P209L|SLC6A2_uc002eig.2_Missense_Mutation_p.P209L|SLC6A2_uc002eih.2_Missense_Mutation_p.P209L|SLC6A2_uc002eii.2_Missense_Mutation_p.P104L	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	209	Extracellular (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	p.P209P(1)		lung(4)|ovary(2)|pancreas(2)	8				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AAGTTCACGCCGGCAGCCGAG	0.547												
CX3CL1	6376	broad.mit.edu	37	16	57416565	57416565	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:57416565C>T	uc002eli.2	+	3	882	c.815C>T	c.(814-816)ACG>ATG	p.T272M		NM_002996	NP_002987	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1 precursor	272	Mucin-like stalk.|Extracellular (Potential).				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity				0						CCAGCGCACACGGATGCCTTC	0.662												
CX3CL1	6376	broad.mit.edu	37	16	57416914	57416914	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:57416914T>C	uc002eli.2	+	3	1231	c.1164T>C	c.(1162-1164)GGT>GGC	p.G388G		NM_002996	NP_002987	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1 precursor	388	Cytoplasmic (Potential).				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity				0						GGAGCTGTGGTAGTAATTCAT	0.582												
GPR97	222487	broad.mit.edu	37	16	57702267	57702267	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:57702267C>T	uc002emh.2	+	1	111	c.8C>T	c.(7-9)ACG>ATG	p.T3M	GPR97_uc010cdc.2_Missense_Mutation_p.T3M|GPR97_uc010vhv.1_Translation_Start_Site|GPR97_uc010cdd.2_RNA	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97 precursor	3					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1						AGGATGGCGACGCCCAGGGGC	0.726												
GOT2	2806	broad.mit.edu	37	16	58750636	58750636	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:58750636G>A	uc002eof.1	-	7	898	c.784C>T	c.(784-786)CGC>TGC	p.R262C	GOT2_uc010vim.1_Missense_Mutation_p.R219C	NM_002080	NP_002071	P00505	AATM_HUMAN	aspartate aminotransferase 2 precursor	262					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATGAAGTGGCGCACAGCCCAG	0.473												
CDH8	1006	broad.mit.edu	37	16	61689544	61689544	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:61689544C>G	uc002eog.1	-	11	1988	c.1736G>C	c.(1735-1737)AGT>ACT	p.S579T		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	579	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)		TCCACTATCACTGATTATGAT	0.423												
CDH11	1009	broad.mit.edu	37	16	65032470	65032470	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:65032470T>G	uc002eoi.2	-	4	952	c.518A>C	c.(517-519)AAT>ACT	p.N173T	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.N173T|CDH11_uc010vin.1_Missense_Mutation_p.N47T|CDH11_uc010vio.1_Missense_Mutation_p.N173T	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	173	Cadherin 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CGCACCCACATTGGACCTCTC	0.572			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)		
SLC9A5	6553	broad.mit.edu	37	16	67286608	67286608	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:67286608G>A	uc002esm.2	+	2	414	c.351G>A	c.(349-351)TTG>TTA	p.L117L	SLC9A5_uc010cee.2_5'UTR|SLC9A5_uc010vji.1_5'UTR	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	117	Helical; (Potential).				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CTATTGTGTTGGACTCAGGCT	0.537												
AGRP	181	broad.mit.edu	37	16	67516936	67516936	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:67516936A>G	uc002etg.1	-	3	508	c.208T>C	c.(208-210)TTG>CTG	p.L70L	ATP6V0D1_uc002ete.1_5'Flank|ATP6V0D1_uc010vjo.1_5'Flank	NM_001138	NP_001129	O00253	AGRP_HUMAN	agouti related protein homolog isoform 1	70					hormone-mediated signaling pathway|neuropeptide signaling pathway|regulation of feeding behavior	extracellular space|Golgi lumen	neuropeptide hormone activity				0		Acute lymphoblastic leukemia(13;0.00263)|all_hematologic(13;0.0274)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0717)|Epithelial(162;0.16)		ACCTCTGCCAAGGCCTGAGCC	0.607												
TSNAXIP1	55815	broad.mit.edu	37	16	67861807	67861807	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:67861807G>A	uc002euj.2	+	16	2282	c.1888G>A	c.(1888-1890)GTG>ATG	p.V630M	TSNAXIP1_uc002euf.3_3'UTR|TSNAXIP1_uc010vka.1_Missense_Mutation_p.V684M|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.V615M|TSNAXIP1_uc002eug.3_Missense_Mutation_p.V338M|TSNAXIP1_uc002euh.3_Missense_Mutation_p.V338M|TSNAXIP1_uc002eui.3_Missense_Mutation_p.V338M|TSNAXIP1_uc002euk.2_Missense_Mutation_p.V363M	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein	630					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm					0		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GGAAGAAGCCGTGGTGGAAAT	0.592												
NUTF2	10204	broad.mit.edu	37	16	67904812	67904812	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:67904812G>A	uc002eup.2	+	5	479	c.380G>A	c.(379-381)GGC>GAC	p.G127D	NUTF2_uc002euq.3_RNA|EDC4_uc002eur.2_5'Flank|EDC4_uc010cer.2_5'Flank|EDC4_uc010vkg.1_5'Flank	NM_005796	NP_005787	P61970	NTF2_HUMAN	nuclear transport factor 2	127					protein transport	cytosol|nuclear pore	protein binding|transporter activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		CACAACTTTGGCTGACCTCCT	0.502												
EDC4	23644	broad.mit.edu	37	16	67916384	67916384	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:67916384T>C	uc002eur.2	+	25	3495	c.3329T>C	c.(3328-3330)ATG>ACG	p.M1110T	EDC4_uc010cer.2_Missense_Mutation_p.M729T|EDC4_uc002eus.2_Missense_Mutation_p.M840T|EDC4_uc002eut.1_Missense_Mutation_p.M1T|NRN1L_uc002euu.2_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	1110					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CAAGGGCCGATGCAGGCTGCC	0.592												
LCAT	3931	broad.mit.edu	37	16	67976607	67976607	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:67976607G>A	uc002euy.1	-	4	501	c.490C>T	c.(490-492)CGC>TGC	p.R164C		NM_000229	NP_000220	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase precursor	164			R -> C (in LCATD).|R -> H (in LCATD; also in a compound heterozygote carrying R-95 with intermediate phenotype between LCATD and FED; loss of activity).		cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		GGGGCGGCGCGCACAGTCTCG	0.687												
WWP2	11060	broad.mit.edu	37	16	69969758	69969758	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:69969758G>A	uc002exu.1	+	19	1934	c.1845G>A	c.(1843-1845)GCG>GCA	p.A615A	WWP2_uc002exv.1_Silent_p.A615A|WWP2_uc010vlm.1_Silent_p.A499A|WWP2_uc010vln.1_Silent_p.A233A|WWP2_uc002exw.1_Silent_p.A176A	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	615	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			lung(3)|ovary(1)|breast(1)|skin(1)	6						CTTCCCAGGCGCTGTACCATG	0.552												
MTSS1L	92154	broad.mit.edu	37	16	70708260	70708260	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:70708260G>A	uc002ezj.2	-	11	1262	c.1002C>T	c.(1000-1002)GAC>GAT	p.D334D		NM_138383	NP_612392	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	334	Ser-rich.				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			central_nervous_system(1)	1						AGTAGGTGGCGTCCTGGGAGA	0.642												
FTSJD1	55783	broad.mit.edu	37	16	71317725	71317725	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:71317725C>T	uc010cga.2	-	3	2505	c.2099G>A	c.(2098-2100)CGA>CAA	p.R700Q	FTSJD1_uc002ezy.3_Missense_Mutation_p.R700Q|FTSJD1_uc002ezz.3_Missense_Mutation_p.R700Q	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN	FtsJ methyltransferase domain containing 1	700						integral to membrane	methyltransferase activity|nucleic acid binding			skin(1)	1						CTGCAAATATCGGAAAACTGG	0.468												
PHLPP2	23035	broad.mit.edu	37	16	71683763	71683763	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:71683763C>T	uc002fax.2	-	18	3008	c.3002G>A	c.(3001-3003)CGT>CAT	p.R1001H	PHLPP2_uc002fav.2_Intron|PHLPP2_uc010cgf.2_Missense_Mutation_p.R934H	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	1001	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						TTGTACGTGACGTACAGCATT	0.463												
PMFBP1	83449	broad.mit.edu	37	16	72173266	72173266	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:72173266T>C	uc002fcc.3	-	7	1012	c.840A>G	c.(838-840)CTA>CTG	p.L280L	PMFBP1_uc002fcd.2_Silent_p.L280L|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Silent_p.L135L	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	280										ovary(2)	2		Ovarian(137;0.179)				AATCGGCTTGTAGTTTTATCA	0.428												
ZFP1	162239	broad.mit.edu	37	16	75203278	75203278	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:75203278T>C	uc002fdo.2	+	4	434	c.270T>C	c.(268-270)CTT>CTC	p.L90L	ZFP1_uc002fdp.2_Silent_p.L35L|ZFP1_uc010cgt.2_Silent_p.L57L|ZFP1_uc010cgs.2_Silent_p.L35L|ZFP1_uc002fdq.2_Silent_p.L90L	NM_153688	NP_710155	Q6P2D0	ZFP1_HUMAN	zinc finger protein 1 homolog	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						GAAAAGCACTTAATCTGAACA	0.343												
PKD1L2	114780	broad.mit.edu	37	16	81249951	81249951	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:81249951G>A	uc002fgh.1	-	2	362	c.362C>T	c.(361-363)GCC>GTC	p.A121V	PKD1L2_uc002fgj.2_Missense_Mutation_p.A121V	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	121	Extracellular (Potential).|C-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GGCAGCGGCGGCCTGCCCTCC	0.632												
MLYCD	23417	broad.mit.edu	37	16	83948956	83948956	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:83948956C>T	uc002fgz.2	+	5	1364	c.1344C>T	c.(1342-1344)TGC>TGT	p.C448C		NM_012213	NP_036345	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase precursor	448					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity				0						CCGGCTCCTGCGGCCTGATGG	0.627												
ATP2C2	9914	broad.mit.edu	37	16	84494378	84494378	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:84494378A>G	uc002fhx.2	+	24	2541	c.2452A>G	c.(2452-2454)AGC>GGC	p.S818G	ATP2C2_uc010chj.2_Missense_Mutation_p.S847G|ATP2C2_uc002fhy.2_Missense_Mutation_p.S835G|ATP2C2_uc002fhz.2_Missense_Mutation_p.S667G|ATP2C2_uc002fia.2_Missense_Mutation_p.S129G	NM_014861	NP_055676	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	818	Helical; Name=7; (Potential).				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)	2						CATCATCATCAGCGGGACCCT	0.587												
FOXF1	2294	broad.mit.edu	37	16	86544748	86544748	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:86544748C>T	uc002fjl.2	+	1	616	c.573C>T	c.(571-573)GGC>GGT	p.G191G	uc002fjk.1_5'Flank	NM_001451	NP_001442	Q12946	FOXF1_HUMAN	forkhead box F1	191					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0						TGGAGGGCGGCCTGGGCATGA	0.706												
MTHFSD	64779	broad.mit.edu	37	16	86565850	86565850	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:86565850C>T	uc002fjn.2	-	8	970	c.919G>A	c.(919-921)GAT>AAT	p.D307N	MTHFSD_uc010voo.1_Missense_Mutation_p.D287N|MTHFSD_uc002fjo.2_Missense_Mutation_p.D144N|MTHFSD_uc002fjm.2_Missense_Mutation_p.D306N|MTHFSD_uc010vop.1_Missense_Mutation_p.D144N|MTHFSD_uc010voq.1_Missense_Mutation_p.D306N|MTHFSD_uc010vor.1_Missense_Mutation_p.D307N	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain	307	RRM.				folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding				0						ACGTAAACATCGGCTGCAAGC	0.682												
JPH3	57338	broad.mit.edu	37	16	87677940	87677940	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:87677940C>T	uc002fkd.2	+	2	713	c.459C>T	c.(457-459)GCC>GCT	p.A153A	JPH3_uc010vou.1_RNA	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	junctophilin 3	153	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0287)		ATGGCATGGCCGCGGTCATCC	0.692												
KLHDC4	54758	broad.mit.edu	37	16	87743249	87743249	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:87743249G>A	uc002fki.2	-	10	1115	c.1069C>T	c.(1069-1071)CGC>TGC	p.R357C	KLHDC4_uc002fkh.1_RNA|KLHDC4_uc010cht.1_Intron|KLHDC4_uc002fkj.2_Missense_Mutation_p.R326C|KLHDC4_uc002fkk.2_Missense_Mutation_p.R176C|KLHDC4_uc002fkl.2_Missense_Mutation_p.R300C|KLHDC4_uc010chu.1_Missense_Mutation_p.R176C	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	357	Kelch 5.									pancreas(2)	2				BRCA - Breast invasive adenocarcinoma(80;0.0283)		CCCCGCCTGCGTTTCTTCTTT	0.612												
SRR	63826	broad.mit.edu	37	17	2227145	2227145	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:2227145C>T	uc002fue.1	+	8	1069	c.1001C>T	c.(1000-1002)TCT>TTT	p.S334F	SRR_uc002fui.1_Missense_Mutation_p.S185F|TSR1_uc002fuj.2_3'UTR	NM_021947	NP_068766	Q9GZT4	SRR_HUMAN	serine racemase	334					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity				0		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AGGCCAGCTTCTTATCAGTCT	0.388												
SLC25A11	8402	broad.mit.edu	37	17	4842264	4842264	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:4842264C>T	uc002fzo.1	-	3	368	c.255G>A	c.(253-255)TCG>TCA	p.S85S	SLC25A11_uc002fzp.1_Silent_p.S81S|RNF167_uc002fzq.2_5'Flank|RNF167_uc002fzr.2_5'Flank|RNF167_uc002fzs.2_5'Flank|RNF167_uc002fzt.2_5'Flank|RNF167_uc002fzu.2_5'Flank|RNF167_uc002fzv.2_5'Flank|RNF167_uc002fzw.1_5'Flank|RNF167_uc002fzx.2_5'Flank	NM_003562	NP_003553	Q02978	M2OM_HUMAN	solute carrier family 25 member 11 isoform 1	85	Helical; Name=2; (Potential).|Solcar 1.				gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity				0						GCAGGCCAGCCGACAGCCTGA	0.602												
ZNF594	84622	broad.mit.edu	37	17	5086767	5086767	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:5086767G>C	uc010cla.1	-	2	941	c.785C>G	c.(784-786)ACT>AGT	p.T262S		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						TTTCTCTCCAGTGTGAATTCT	0.428												
NUP88	4927	broad.mit.edu	37	17	5290760	5290760	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:5290760C>T	uc002gbo.1	-	14	1888	c.1862G>A	c.(1861-1863)CGT>CAT	p.R621H	NUP88_uc002gbn.2_5'Flank|NUP88_uc010vsx.1_Missense_Mutation_p.R637H	NM_002532	NP_002523	Q99567	NUP88_HUMAN	nucleoporin 88kDa	621	Potential.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			kidney(1)	1						GTCAGCTAAACGCTCAGCCAT	0.428												
ALOX12	239	broad.mit.edu	37	17	6905060	6905060	+	Missense_Mutation	SNP	C	C	T	rs143493293	by1000genomes	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:6905060C>T	uc002gdx.3	+	8	1144	c.1091C>T	c.(1090-1092)ACT>ATT	p.T364I	uc002gdy.1_RNA	NM_000697	NP_000688	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	364	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			central_nervous_system(1)	1						TTGCTGAACACTCACCTGGTG	0.527												
BCL6B	255877	broad.mit.edu	37	17	6927125	6927125	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:6927125C>T	uc002geg.2	+	2	192	c.135C>T	c.(133-135)GGC>GGT	p.G45G	BCL6B_uc010clt.1_Silent_p.G45G	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B (zinc finger	45	BTB.					nucleus	zinc ion binding			skin(1)	1						TGCTGGTTGGCGGGCAACCCC	0.667												
ACAP1	9744	broad.mit.edu	37	17	7253540	7253540	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:7253540G>A	uc002ggd.2	+	20	2262	c.2056G>A	c.(2056-2058)GCT>ACT	p.A686T	KCTD11_uc002gge.3_5'Flank	NM_014716	NP_055531	Q15027	ACAP1_HUMAN	centaurin beta1	686	Required for interaction with GULP1.|ANK 3.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			breast(2)|large_intestine(1)	3						AACAGCCAACGCTGACATCGT	0.677												
POLR2A	5430	broad.mit.edu	37	17	7404634	7404634	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:7404634A>G	uc002ghf.3	+	13	2311	c.2077A>G	c.(2077-2079)ATT>GTT	p.I693V		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	693					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			pancreas(1)	1		Prostate(122;0.173)				TGGGGACTCCATTGCTGATTC	0.448												
KDM6B	23135	broad.mit.edu	37	17	7756423	7756423	+	Silent	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:7756423C>A	uc002giw.1	+	21	5092	c.4716C>A	c.(4714-4716)GCC>GCA	p.A1572A	KDM6B_uc002gix.2_Silent_p.A874A|TMEM88_uc002giy.2_5'Flank	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1572					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|pancreas(1)	2						ACGAGCCAGCCTACTACTGCA	0.637												
ALOXE3	59344	broad.mit.edu	37	17	8000064	8000064	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:8000064C>T	uc010cnr.2	-	16	2387	c.2017G>A	c.(2017-2019)GCC>ACC	p.A673T	ALOXE3_uc002gka.2_Missense_Mutation_p.A829T|ALOXE3_uc010vuo.1_Missense_Mutation_p.A805T	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3 isoform 2	673	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			skin(3)|lung(1)|central_nervous_system(1)	5						TGGAAGGCGGCGATGCTCCGC	0.622												
TMEM107	84314	broad.mit.edu	37	17	8077872	8077872	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:8077872A>G	uc002gkg.3	-	4	429	c.319T>C	c.(319-321)TGC>CGC	p.C107R	TMEM107_uc002gkh.3_Missense_Mutation_p.C113R|TMEM107_uc002gki.3_Missense_Mutation_p.C113R|TMEM107_uc002gkj.3_Intron|TMEM107_uc002gkk.2_3'UTR	NM_183065	NP_898888	Q6UX40	TM107_HUMAN	transmembrane protein 107 isoform 2	107						integral to membrane					0						TACGTAGTGCACTCCCAACGC	0.498												
C17orf68	80169	broad.mit.edu	37	17	8140698	8140698	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:8140698C>T	uc002gkq.3	-	5	846	c.787G>A	c.(787-789)GTG>ATG	p.V263M	C17orf68_uc010cnv.2_RNA	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	alpha accessory factor 132	263					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding				0						CTCACCTGCACGATGATGGAC	0.488												
NDEL1	81565	broad.mit.edu	37	17	8350200	8350200	+	Silent	SNP	C	C	T	rs146379947	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:8350200C>T	uc002glj.2	+	4	566	c.369C>T	c.(367-369)GAC>GAT	p.D123D	NDEL1_uc002gli.2_Silent_p.D123D	NM_030808	NP_110435	Q9GZM8	NDEL1_HUMAN	nudE nuclear distribution gene E homolog (A.	123	Required for interaction with PAFAH1B1.|Interaction with KATNB1 (By similarity).|Potential.|Self-association (By similarity).				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle					0						AGGCCAACGACGACCTGGAGC	0.428												
MYH8	4626	broad.mit.edu	37	17	10304992	10304992	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:10304992T>G	uc002gmm.2	-	23	2894	c.2799A>C	c.(2797-2799)GAA>GAC	p.E933D	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	933	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						CATTGATCTCTTCCTCCTCCT	0.453									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling			
MYH8	4626	broad.mit.edu	37	17	10315783	10315783	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:10315783C>T	uc002gmm.2	-	14	1415	c.1320G>A	c.(1318-1320)CTG>CTA	p.L440L	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	440	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						TGACCATCCACAGGAACATCT	0.493									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling			
MAP2K4	6416	broad.mit.edu	37	17	11984731	11984731	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:11984731C>T	uc002gnj.2	+	3	346	c.277C>T	c.(277-279)CAA>TAA	p.Q93*	MAP2K4_uc002gnk.2_Nonsense_Mutation_p.Q104*|MAP2K4_uc010vvi.1_5'UTR|MAP2K4_uc010vvj.1_Intron|MIR744_hsa-mir-744|MI0005559_5'Flank	NM_003010	NP_003001	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	93					cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.?(1)		large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1)	58		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		CTCCCCTGAACAACACTGGGA	0.418			D|Mis|N		pancreatic|breast|colorectal							
MAP2K4	6416	broad.mit.edu	37	17	12028611	12028611	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:12028611C>T	uc002gnj.2	+	8	883	c.814C>T	c.(814-816)CCT>TCT	p.P272S	MAP2K4_uc002gnk.2_Missense_Mutation_p.P283S|MAP2K4_uc010vvi.1_Missense_Mutation_p.P154S|MAP2K4_uc010vvj.1_Missense_Mutation_p.P144S	NM_003010	NP_003001	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	272	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.?(3)		large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1)	58		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TATGTTCCAGCCTGAAAGAAT	0.423			D|Mis|N		pancreatic|breast|colorectal							
CDRT4	284040	broad.mit.edu	37	17	15341231	15341231	+	Silent	SNP	C	C	T	rs149000474	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:15341231C>T	uc002gop.1	-	4	596	c.315G>A	c.(313-315)TCG>TCA	p.S105S	CDRT4_uc010vvw.1_3'UTR	NM_173622	NP_775893	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	105											0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		TGGCCAATACCGAATAAGCGC	0.483												
TRIM16	10626	broad.mit.edu	37	17	15516133	15516133	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:15516133G>T	uc002gor.1	-	11	2271	c.1934C>A	c.(1933-1935)TCC>TAC	p.S645Y	CDRT1_uc002gov.3_Missense_Mutation_p.S335Y			O95361	TRI16_HUMAN	SubName: Full=Putative uncharacterized protein; Flags: Fragment;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding			ovary(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		TCTTGTATAGGACCCCTGGaa	0.373												
RAI1	10743	broad.mit.edu	37	17	17700590	17700590	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:17700590C>T	uc002grm.2	+	3	4797	c.4328C>T	c.(4327-4329)GCG>GTG	p.A1443V	RAI1_uc002grn.1_Missense_Mutation_p.A1443V	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1443						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		ACTGCCCTGGCGCCTAAGAAG	0.612												
SMCR8	140775	broad.mit.edu	37	17	18220589	18220589	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:18220589C>T	uc002gsy.3	+	1	1996	c.1486C>T	c.(1486-1488)CCA>TCA	p.P496S		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region,	496										central_nervous_system(1)	1						CCTCACAGTACCATTGAGCCC	0.537												
SLC47A2	146802	broad.mit.edu	37	17	19618075	19618075	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:19618075C>A	uc002gwe.3	-	3	428	c.253G>T	c.(253-255)GGA>TGA	p.G85*	SLC47A2_uc002gwg.3_Nonsense_Mutation_p.G85*|SLC47A2_uc002gwf.3_Nonsense_Mutation_p.G85*|SLC47A2_uc002gwh.3_RNA|SLC47A2_uc002gwi.2_RNA|SLC47A2_uc010cqs.1_RNA|SLC47A2_uc010cqt.1_RNA	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN	solute carrier family 47, member 2 isoform 1	85	Helical; (Potential).					integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					AAACCAACTCCTACAGAAACT	0.572												
ALDH3A1	218	broad.mit.edu	37	17	19645383	19645383	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:19645383G>A	uc010cqu.2	-	4	953	c.623C>T	c.(622-624)ACG>ATG	p.T208M	ALDH3A1_uc010vzd.1_Missense_Mutation_p.T208M|ALDH3A1_uc002gwj.2_Missense_Mutation_p.T208M|ALDH3A1_uc010cqv.2_Missense_Mutation_p.T208M|ALDH3A1_uc002gwk.2_Missense_Mutation_p.T325M|ALDH3A1_uc002gwl.1_Missense_Mutation_p.T135M	NM_001135168	NP_001128640	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3A1	208					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(1)|pancreas(1)	2	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CAGCTCCAGCGTGACAGGGGT	0.632												
NOS2	4843	broad.mit.edu	37	17	26108199	26108199	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:26108199C>T	uc002gzu.2	-	8	991	c.727G>A	c.(727-729)GCC>ACC	p.A243T	NOS2_uc010crh.1_Missense_Mutation_p.A243T|NOS2_uc010wab.1_Missense_Mutation_p.A243T	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	243					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	ACGGTGATGGCCGACCTTCCC	0.617												
NOS2	4843	broad.mit.edu	37	17	26114723	26114723	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:26114723A>G	uc002gzu.2	-	5	712	c.448T>C	c.(448-450)TAT>CAT	p.Y150H	NOS2_uc010crh.1_Missense_Mutation_p.Y150H|NOS2_uc010wab.1_Missense_Mutation_p.Y150H	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	150					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GAGCCGTAATATTGGTTGACA	0.532												
KIAA0100	9703	broad.mit.edu	37	17	26951336	26951336	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:26951336A>G	uc002hbu.2	-	25	4766	c.4667T>C	c.(4666-4668)ATG>ACG	p.M1556T	KIAA0100_uc002hbt.2_5'Flank	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1556						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					CTGGTCACTCATGCCTGATTC	0.453												
TP53I13	90313	broad.mit.edu	37	17	27899538	27899538	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:27899538C>T	uc002hee.2	+	6	930	c.892C>T	c.(892-894)CGG>TGG	p.R298W		NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	298	Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane					0				READ - Rectum adenocarcinoma(3;0.236)		AGCGCCTCCACGGGCAGCCCG	0.711												
SSH2	85464	broad.mit.edu	37	17	27958011	27958011	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:27958011C>T	uc002heo.1	-	15	4120	c.4120G>A	c.(4120-4122)GTG>ATG	p.V1374M	SSH2_uc010wbh.1_Missense_Mutation_p.V1401M	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	1374					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						GTCTGTAGCACGGGAAGGCCT	0.572												
EVI2A	2123	broad.mit.edu	37	17	29645818	29645818	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:29645818C>A	uc002hgm.2	-	2	429	c.214G>T	c.(214-216)GGT>TGT	p.G72C	NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2A_uc002hgl.2_Missense_Mutation_p.G95C	NM_014210	NP_055025	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A isoform 2	72	Extracellular (Potential).					integral to membrane	transmembrane receptor activity			ovary(1)|breast(1)	2		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		GTAGAATTACCTTTATAATCT	0.368												
MYO1D	4642	broad.mit.edu	37	17	31075962	31075962	+	Silent	SNP	G	G	A	rs117036818	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:31075962G>A	uc002hho.1	-	12	1542	c.1530C>T	c.(1528-1530)GGC>GGT	p.G510G	MYO1D_uc002hhp.1_Silent_p.G510G	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	510	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)			ACACTACATCGCCTGCATAAT	0.368												
SPACA3	124912	broad.mit.edu	37	17	31322545	31322545	+	Silent	SNP	C	C	T	rs139396445		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:31322545C>T	uc002hhs.1	+	2	228	c.153C>T	c.(151-153)GCC>GCT	p.A51A	SPACA3_uc010cte.1_RNA	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	51	Cytoplasmic (Potential).				cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.193)			CCTCTGCCGCCGGCATAGAAG	0.612												
SLFN13	146857	broad.mit.edu	37	17	33768287	33768287	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:33768287C>T	uc002hjk.1	-	4	2351	c.2021G>A	c.(2020-2022)CGT>CAT	p.R674H	SLFN13_uc010wch.1_Missense_Mutation_p.R674H|SLFN13_uc002hjl.2_Missense_Mutation_p.R674H|SLFN13_uc010ctt.2_Missense_Mutation_p.R356H|SLFN13_uc002hjm.2_Missense_Mutation_p.R343H	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	schlafen family member 13	674						intracellular	ATP binding			ovary(1)|breast(1)	2				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATCTTCAGTACGGAAATTCTG	0.433												
HNF1B	6928	broad.mit.edu	37	17	36091778	36091778	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:36091778C>T	uc002hok.3	-	4	1074	c.853G>A	c.(853-855)GGC>AGC	p.G285S	HNF1B_uc010wdi.1_Missense_Mutation_p.G259S|HNF1B_uc010cve.1_Missense_Mutation_p.G93S	NM_000458	NP_000449	P35680	HNF1B_HUMAN	hepatocyte nuclear factor 1-beta isoform 1	285	Homeobox; HNF1-type.		G -> D (in RCAD).		endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GAGCCCAGGCCGTGGGCTTTG	0.612									Hereditary_Prostate_Cancer			
PNMT	5409	broad.mit.edu	37	17	37826335	37826335	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:37826335C>T	uc002hsi.1	+	3	764	c.542C>T	c.(541-543)GCC>GTC	p.A181V		NM_002686	NP_002677	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	181		S-adenosyl-L-methionine; via carbonyl oxygen.			catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			ovary(1)	1	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTGGTCTCTGCCTTCTGCTTG	0.677												
GRB7	2886	broad.mit.edu	37	17	37900873	37900873	+	Missense_Mutation	SNP	G	G	A	rs138362707		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:37900873G>A	uc002hsr.2	+	8	1119	c.869G>A	c.(868-870)CGC>CAC	p.R290H	GRB7_uc002hss.2_Missense_Mutation_p.R290H|GRB7_uc010cwc.2_Missense_Mutation_p.R290H|GRB7_uc002hst.2_Missense_Mutation_p.R290H	NM_005310	NP_005301	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	290	PH.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			lung(2)|ovary(1)|breast(1)|skin(1)	5	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ACGCAGGGCCGCAAGCTCTAC	0.607												
TNS4	84951	broad.mit.edu	37	17	38633914	38633914	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:38633914A>G	uc010cxb.2	-	13	2238	c.2074T>C	c.(2074-2076)TAT>CAT	p.Y692H	TNS4_uc002huu.3_Missense_Mutation_p.Y105H	NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	tensin 4 precursor	692	Phosphatase tensin-type.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			ACCATGTCATACTCCGCAAAG	0.597												
KRT26	353288	broad.mit.edu	37	17	38928171	38928171	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:38928171A>G	uc002hvf.2	-	1	241	c.195T>C	c.(193-195)AGT>AGC	p.S65S		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	keratin 26	65	Head.|Gly-rich.					intermediate filament	structural molecule activity				0		Breast(137;0.00526)				CACAGGCACCACTTCCCAACC	0.527												
KRT10	3858	broad.mit.edu	37	17	38975866	38975866	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:38975866C>T	uc002hvi.2	-	6	1302	c.1276G>A	c.(1276-1278)GAG>AAG	p.E426K	KRT10_uc010cxd.2_RNA|TMEM99_uc002hvj.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	keratin 10	426	Rod.|Gly-rich.|Coil 2.				epidermis development		protein binding|structural constituent of epidermis				0		Breast(137;0.000301)				TTCTGGCACTCGGTTTCAGCT	0.483												
KLHL10	317719	broad.mit.edu	37	17	40001941	40001941	+	Silent	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:40001941C>A	uc010cxr.2	+	3	1390	c.1248C>A	c.(1246-1248)ATC>ATA	p.I416I	KLHL10_uc010wfv.1_Silent_p.I410I|KLHL10_uc010wfw.1_Silent_p.I328I	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	kelch-like 10	416	Kelch 3.					cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)				GGACACTCATCGCCCCCATGC	0.498												
KCNH4	23415	broad.mit.edu	37	17	40330908	40330908	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:40330908G>A	uc002hzb.2	-	2	546	c.213C>T	c.(211-213)TAC>TAT	p.Y71Y		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	71	Cytoplasmic (Potential).|PAS.				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			large_intestine(1)	1		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCTCTGGGCCGTAGAGGAAAC	0.627												
COASY	80347	broad.mit.edu	37	17	40717259	40717259	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:40717259A>G	uc002hzz.2	+	7	1474	c.1317A>G	c.(1315-1317)ATA>ATG	p.I439M	COASY_uc010cyj.2_Missense_Mutation_p.I468M|COASY_uc002iab.2_Missense_Mutation_p.I144M|COASY_uc002iad.2_Missense_Mutation_p.I439M|COASY_uc002iac.2_Missense_Mutation_p.I439M|COASY_uc002iae.2_Missense_Mutation_p.I234M|MLX_uc002iaf.2_5'Flank|MLX_uc002iag.2_5'Flank|MLX_uc002iah.2_5'Flank	NM_001042529	NP_001035994	Q13057	COASY_HUMAN	coenzyme A synthase isoform a	439	DPCK.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity				0		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		AGCTGAAGATACTCACGGACA	0.562												
RUNDC1	146923	broad.mit.edu	37	17	41143362	41143362	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:41143362T>C	uc002ici.1	+	5	1483	c.1471T>C	c.(1471-1473)TCC>CCC	p.S491P	RUNDC1_uc010whi.1_Missense_Mutation_p.S261P	NM_173079	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	491	RUN.										0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TTATGTGGAATCCCCAGCCCG	0.577												
BRCA1	672	broad.mit.edu	37	17	41244853	41244853	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:41244853C>G	uc002icq.2	-	10	2927	c.2695G>C	c.(2695-2697)GTC>CTC	p.V899L	BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.V828L|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.V852L|BRCA1_uc002ict.2_Missense_Mutation_p.V899L|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.V899L|BRCA1_uc002ide.1_Missense_Mutation_p.V730L|BRCA1_uc010cyy.1_Missense_Mutation_p.V899L|BRCA1_uc010whs.1_Missense_Mutation_p.V899L|BRCA1_uc010cyz.2_Missense_Mutation_p.V852L|BRCA1_uc010cza.2_Missense_Mutation_p.V873L|BRCA1_uc010wht.1_Missense_Mutation_p.V603L	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	899					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCAAAAGTGACTTTTGGACTT	0.413			D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)		
NBR1	4077	broad.mit.edu	37	17	41343459	41343459	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:41343459C>T	uc010czd.2	+	10	1074	c.934C>T	c.(934-936)CGT>TGT	p.R312C	NBR1_uc010diz.2_Missense_Mutation_p.R312C|NBR1_uc010whu.1_Missense_Mutation_p.R312C|NBR1_uc010whv.1_Missense_Mutation_p.R312C|NBR1_uc010whw.1_Missense_Mutation_p.R291C|NBR1_uc010whx.1_Missense_Mutation_p.R121C	NM_031862	NP_114068	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	312					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			skin(1)	1		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		GAAGAAACAACGTAAAGCAGA	0.403												
MPP2	4355	broad.mit.edu	37	17	41958098	41958098	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:41958098T>C	uc010wip.1	-	10	1303	c.1246A>G	c.(1246-1248)ATC>GTC	p.I416V	MPP2_uc002ien.1_Missense_Mutation_p.I388V|MPP2_uc010wim.1_Missense_Mutation_p.I360V|MPP2_uc002ieo.1_Missense_Mutation_p.I371V|MPP2_uc010win.1_Missense_Mutation_p.I232V|MPP2_uc010wio.1_Missense_Mutation_p.I360V	NM_005374	NP_005365	Q14168	MPP2_HUMAN	palmitoylated membrane protein 2	395	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)		TCCCACATGATGAGCTTGTTC	0.642											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DBF4B	80174	broad.mit.edu	37	17	42824781	42824781	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:42824781G>T	uc002ihf.2	+	12	1175	c.962G>T	c.(961-963)CGG>CTG	p.R321L	DBF4B_uc002ihe.2_Missense_Mutation_p.R135L|DBF4B_uc010wjc.1_Missense_Mutation_p.R305L	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B isoform 1	321	DBF4-type.				cell cycle	nucleus	nucleic acid binding|zinc ion binding				0		Prostate(33;0.0322)				GCCCAGCACCGGAGCTTTGCC	0.622												
KIAA1267	284058	broad.mit.edu	37	17	44115975	44115975	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:44115975G>A	uc002ikb.2	-	9	2555	c.2470C>T	c.(2470-2472)CGA>TGA	p.R824*	KIAA1267_uc002ikc.2_Nonsense_Mutation_p.R824*|KIAA1267_uc002ikd.2_Nonsense_Mutation_p.R824*|KIAA1267_uc010dav.2_Nonsense_Mutation_p.R824*|KIAA1267_uc010wkb.1_Nonsense_Mutation_p.R155*|KIAA1267_uc010wkc.1_Nonsense_Mutation_p.R92*	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	824						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				GAGAGCTGTCGCACCAAGGGA	0.562												
C17orf57	124989	broad.mit.edu	37	17	45473245	45473245	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:45473245C>G	uc002iln.2	+	17	2258	c.1847C>G	c.(1846-1848)ACG>AGG	p.T616R	C17orf57_uc002ilm.2_Missense_Mutation_p.T520R	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	hypothetical protein LOC124989	616							calcium ion binding			breast(1)|central_nervous_system(1)|skin(1)	3						AGAAAGGAGACGATGAGTGTT	0.368												
NFE2L1	4779	broad.mit.edu	37	17	46136704	46136704	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:46136704C>T	uc002imz.3	+	6	2671	c.2020C>T	c.(2020-2022)CGC>TGC	p.R674C	NFE2L1_uc002ina.3_Missense_Mutation_p.R644C|NFE2L1_uc002inb.3_Missense_Mutation_p.R644C|NFE2L1_uc010wle.1_Missense_Mutation_p.R486C|NFE2L1_uc010wlf.1_Missense_Mutation_p.R518C	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	nuclear factor erythroid 2-like 1	674	Basic motif.				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			skin(1)	1						CTGCCGCAAGCGCAAGCTGGA	0.607												
CACNA1G	8913	broad.mit.edu	37	17	48649364	48649364	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:48649364C>T	uc002irk.1	+	5	1084	c.712C>T	c.(712-714)CGG>TGG	p.R238W	CACNA1G_uc002iri.1_Missense_Mutation_p.R238W|CACNA1G_uc002irj.1_Missense_Mutation_p.R238W|CACNA1G_uc002irl.1_Missense_Mutation_p.R238W|CACNA1G_uc002irm.1_Missense_Mutation_p.R238W|CACNA1G_uc002irn.1_Missense_Mutation_p.R238W|CACNA1G_uc002iro.1_Missense_Mutation_p.R238W|CACNA1G_uc002irp.1_Missense_Mutation_p.R238W|CACNA1G_uc002irq.1_Missense_Mutation_p.R238W|CACNA1G_uc002irr.1_Missense_Mutation_p.R238W|CACNA1G_uc002irs.1_Missense_Mutation_p.R238W|CACNA1G_uc002irt.1_Missense_Mutation_p.R238W|CACNA1G_uc002irv.1_Missense_Mutation_p.R238W|CACNA1G_uc002irw.1_Missense_Mutation_p.R238W|CACNA1G_uc002iru.1_Missense_Mutation_p.R238W|CACNA1G_uc002irx.1_Missense_Mutation_p.R151W|CACNA1G_uc002iry.1_Missense_Mutation_p.R151W|CACNA1G_uc002irz.1_Missense_Mutation_p.R151W|CACNA1G_uc002isa.1_Missense_Mutation_p.R151W|CACNA1G_uc002isb.1_Missense_Mutation_p.R151W|CACNA1G_uc002isc.1_Missense_Mutation_p.R151W|CACNA1G_uc002isd.1_Missense_Mutation_p.R151W|CACNA1G_uc002ise.1_Missense_Mutation_p.R151W|CACNA1G_uc002isf.1_Missense_Mutation_p.R151W|CACNA1G_uc002isg.1_Missense_Mutation_p.R151W|CACNA1G_uc002ish.1_Missense_Mutation_p.R151W|CACNA1G_uc002isi.1_Missense_Mutation_p.R151W	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	238	Extracellular (Potential).|I.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGGGCTGCTTCGGAACCGATG	0.607												
ABCC3	8714	broad.mit.edu	37	17	48744971	48744971	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:48744971C>T	uc002isl.2	+	12	1568	c.1488C>T	c.(1486-1488)AAC>AAT	p.N496N	ABCC3_uc002isk.3_Silent_p.N496N	NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	496	ABC transmembrane type-1 1.|Cytoplasmic (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	AGATCCTGAACGGCATCAAGG	0.587												
SPAG9	9043	broad.mit.edu	37	17	49098616	49098616	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:49098616G>A	uc002itc.2	-	7	1103	c.894C>T	c.(892-894)AAC>AAT	p.N298N	SPAG9_uc002itb.2_Silent_p.N284N|SPAG9_uc002itd.2_Silent_p.N284N|SPAG9_uc002itf.2_Silent_p.N119N|SPAG9_uc002ita.2_Silent_p.N141N|SPAG9_uc002ite.2_Silent_p.N128N	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	298					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CAAATCCTTCGTTTTCTTCCT	0.418												
ANKFN1	162282	broad.mit.edu	37	17	54554883	54554883	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:54554883G>A	uc002iun.1	+	15	1852	c.1817G>A	c.(1816-1818)CGT>CAT	p.R606H		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain	606										large_intestine(1)|ovary(1)	2						AGTCATCAGCGTCTCTTTCCT	0.363												
COIL	8161	broad.mit.edu	37	17	55027965	55027965	+	Missense_Mutation	SNP	T	T	C	rs143886618	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:55027965T>C	uc002iuu.2	-	2	669	c.638A>G	c.(637-639)AAT>AGT	p.N213S		NM_004645	NP_004636	P38432	COIL_HUMAN	coilin	213						Cajal body|nucleolus	protein C-terminus binding			ovary(1)	1	Breast(9;6.15e-08)					ACATCTCTGATTGGCCCAGTC	0.408												
SEPT4	5414	broad.mit.edu	37	17	56599207	56599207	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:56599207G>A	uc002iwm.1	-	7	933	c.805C>T	c.(805-807)CCA>TCA	p.P269S	SEPT4_uc002iwk.1_Missense_Mutation_p.P122S|SEPT4_uc010wnw.1_Missense_Mutation_p.P122S|SEPT4_uc002iwl.1_Missense_Mutation_p.P122S|SEPT4_uc002iwn.1_Missense_Mutation_p.P170S|SEPT4_uc002iwo.1_Missense_Mutation_p.P250S|SEPT4_uc002iwp.1_3'UTR|SEPT4_uc010wnx.1_Missense_Mutation_p.P284S|SEPT4_uc010wny.1_Missense_Mutation_p.P261S|SEPT4_uc010dcy.1_3'UTR	NM_004574	NP_004565	O43236	SEPT4_HUMAN	septin 4 isoform 1	269					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACATCCAATGGCCGGAGCCTG	0.597												
TEX14	56155	broad.mit.edu	37	17	56690811	56690811	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:56690811C>T	uc010dcz.1	-	9	1112	c.994G>A	c.(994-996)GGC>AGC	p.G332S	TEX14_uc002iwr.1_Missense_Mutation_p.G326S|TEX14_uc002iws.1_Missense_Mutation_p.G326S|TEX14_uc010dda.1_Missense_Mutation_p.G106S	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	332	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AACAATGTGCCGATAGTGATG	0.527												
PPM1E	22843	broad.mit.edu	37	17	57057506	57057506	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:57057506G>A	uc002iwx.2	+	7	1509	c.1382G>A	c.(1381-1383)AGC>AAC	p.S461N	PPM1E_uc010ddd.2_Missense_Mutation_p.S224N	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	protein phosphatase 1E	470	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(3)|lung(1)|skin(1)	5	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			AATGGAGACAGCAGCATGGTT	0.483												
C17orf71	55181	broad.mit.edu	37	17	57289173	57289173	+	Splice_Site	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:57289173T>C	uc002ixi.2	+	1	1801	c.1759_splice	c.e1+2	p.G587_splice		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein						nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CTAAATCAGGTAGCTAAAATT	0.338												
DHX40	79665	broad.mit.edu	37	17	57679906	57679906	+	Silent	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:57679906C>A	uc002ixn.1	+	15	1977	c.1830C>A	c.(1828-1830)ACC>ACA	p.T610T	DHX40_uc010woe.1_Silent_p.T533T|DHX40_uc010wof.1_Silent_p.T125T	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	610							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CAAAAGAGACCTTTGAAGGCC	0.338												
STRADA	92335	broad.mit.edu	37	17	61780974	61780974	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:61780974G>A	uc002jbm.2	-	13	1440	c.1281C>T	c.(1279-1281)GAC>GAT	p.D427D	LIMD2_uc002jbl.3_5'Flank|STRADA_uc002jbn.2_Silent_p.D369D|STRADA_uc002jbo.2_Silent_p.D390D|STRADA_uc002jbp.2_3'UTR|STRADA_uc002jbq.2_Silent_p.D369D|STRADA_uc010wpq.1_3'UTR|STRADA_uc010wpr.1_3'UTR|STRADA_uc010ddw.2_Silent_p.D398D|STRADA_uc002jbr.2_3'UTR	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha isoform 1	427					activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			ovary(1)	1						ACTCCCAATCGTCCACCTCCA	0.592												
SCN4A	6329	broad.mit.edu	37	17	62049563	62049563	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:62049563T>C	uc002jds.1	-	3	492	c.415A>G	c.(415-417)ATC>GTC	p.I139V		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	139	Helical; Name=S1 of repeat I; (Potential).|I.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	AAGATGGTGATCATGATGAAC	0.567												
SMURF2	64750	broad.mit.edu	37	17	62587239	62587239	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:62587239C>T	uc002jep.1	-	5	751	c.363G>A	c.(361-363)GGG>GGA	p.G121G	SMURF2_uc002jeq.1_5'UTR|SMURF2_uc002jer.1_5'UTR	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	121					BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			skin(3)|lung(1)	4	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TGTCATTTGGCCCGAGTTTGC	0.348												
CD300LB	124599	broad.mit.edu	37	17	72521917	72521917	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:72521917C>A	uc002jkx.2	-	2	464	c.451G>T	c.(451-453)GGG>TGG	p.G151W	CD300LB_uc010wqz.1_Missense_Mutation_p.G151W	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	114	Ig-like V-type.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)	1						ACTTGAGTCCCAAGGTCAGGT	0.522												
NUP85	79902	broad.mit.edu	37	17	73227720	73227720	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:73227720T>C	uc002jng.1	+	13	1491	c.1231T>C	c.(1231-1233)TTT>CTT	p.F411L	NUP85_uc010dgd.1_Missense_Mutation_p.F366L|NUP85_uc010wrv.1_Missense_Mutation_p.F365L|NUP85_uc002jnh.1_Missense_Mutation_p.F14L	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	nucleoporin 85	411					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			ovary(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CTCGGGACTGTTTGCTCATCC	0.547												
RECQL5	9400	broad.mit.edu	37	17	73654438	73654438	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:73654438G>A	uc010dgl.2	-	7	1245	c.1089C>T	c.(1087-1089)TAC>TAT	p.Y363Y	RECQL5_uc010dgk.2_Silent_p.Y336Y|RECQL5_uc002jpb.1_Silent_p.Y363Y|RECQL5_uc002joz.3_Silent_p.Y363Y|RECQL5_uc002jpa.3_Silent_p.Y363Y	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	363	Helicase C-terminal.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CATTCCTGGAGTAATAGAGAC	0.542								Other_identified_genes_with_known_or_suspected_DNA_repair_function				
RECQL5	9400	broad.mit.edu	37	17	73654499	73654499	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:73654499T>C	uc010dgl.2	-	7	1184	c.1028A>G	c.(1027-1029)TAC>TGC	p.Y343C	RECQL5_uc010dgk.2_Missense_Mutation_p.Y316C|RECQL5_uc002jpb.1_Missense_Mutation_p.Y343C|RECQL5_uc002joz.3_Missense_Mutation_p.Y343C|RECQL5_uc002jpa.3_Missense_Mutation_p.Y343C	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	343	Helicase C-terminal.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CTCCTGGTAGTACCCAGCCAT	0.547								Other_identified_genes_with_known_or_suspected_DNA_repair_function				
UBE2O	63893	broad.mit.edu	37	17	74395938	74395938	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:74395938G>C	uc002jrm.3	-	9	1285	c.1220C>G	c.(1219-1221)TCC>TGC	p.S407C	UBE2O_uc002jrn.3_Missense_Mutation_p.S407C|UBE2O_uc002jrl.3_Missense_Mutation_p.S10C	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	407							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5						ATGGTCCCGGGAACACTGGGT	0.602												
AANAT	15	broad.mit.edu	37	17	74465822	74465822	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:74465822C>T	uc002jro.2	+	4	628	c.394C>T	c.(394-396)CAG>TAG	p.Q132*	AANAT_uc010wte.1_RNA	NM_001088	NP_001079	Q16613	SNAT_HUMAN	arylalkylamine N-acetyltransferase	132	N-acetyltransferase.|Acetyl-CoA binding (By similarity).				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity				0						CGCCTTCCGGCAGCAGGGCAG	0.706												
DNAH17	8632	broad.mit.edu	37	17	76421579	76421579	+	Missense_Mutation	SNP	G	G	A	rs149945771		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:76421579G>A	uc010dhp.1	-	25	4211	c.3989C>T	c.(3988-3990)TCG>TTG	p.S1330L	DNAH17_uc002jvq.2_Missense_Mutation_p.S615L|DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGTGAGGAACGACTGGGGGTT	0.602												
AATK	9625	broad.mit.edu	37	17	79095107	79095107	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:79095107C>T	uc010dia.2	-	11	2709	c.2629G>A	c.(2629-2631)GAC>AAC	p.D877N	AATK_uc010dhz.2_RNA	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	877						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGCAGGCCGTCGCTGGACGTG	0.672												
COLEC12	81035	broad.mit.edu	37	18	331668	331668	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:331668T>C	uc002kkm.2	-	8	2278	c.2063A>G	c.(2062-2064)AAA>AGA	p.K688R		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	688	Extracellular (Potential).|C-type lectin.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GAGTACTTACTTGTAGTCTGG	0.488												
COLEC12	81035	broad.mit.edu	37	18	348092	348092	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:348092C>A	uc002kkm.2	-	4	468	c.253G>T	c.(253-255)GCA>TCA	p.A85S		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	85	Potential.|Extracellular (Potential).				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CTTTCCACTGCTGTGAGCTTG	0.388												
YES1	7525	broad.mit.edu	37	18	732942	732942	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:732942T>C	uc002kky.2	-	11	1536	c.1315A>G	c.(1315-1317)ACA>GCA	p.T439A	YES1_uc002kkz.2_Missense_Mutation_p.T439A	NM_005433	NP_005424	P07947	YES_HUMAN	viral oncogene yes-1 homolog 1	439	Protein kinase.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|ovary(1)	3					Dasatinib(DB01254)	TCAGGAGCTGTCCATTTGATT	0.373												
LPIN2	9663	broad.mit.edu	37	18	2937883	2937883	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:2937883C>T	uc002klo.2	-	7	1214	c.975G>A	c.(973-975)GTG>GTA	p.V325V		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	lipin 2	325					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			ovary(1)|skin(1)	2				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GTTTGGGCTTCACTATGGTAC	0.473												
LRRC30	339291	broad.mit.edu	37	18	7231916	7231916	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:7231916C>T	uc010wzk.1	+	1	780	c.780C>T	c.(778-780)ATC>ATT	p.I260I		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	260										ovary(1)|liver(1)	2						TGGTGAGGATCGCCTGGAATC	0.587												
KIAA0802	23255	broad.mit.edu	37	18	8824926	8824926	+	Missense_Mutation	SNP	C	C	T	rs141975395	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:8824926C>T	uc002knr.2	+	15	3560	c.3418C>T	c.(3418-3420)CGG>TGG	p.R1140W	KIAA0802_uc002knq.2_Missense_Mutation_p.R1099W|KIAA0802_uc002kns.2_Missense_Mutation_p.R480W	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1450											0						CGAGGTGGGGCGGGCAGGGCA	0.617												
FAM38B	63895	broad.mit.edu	37	18	10696408	10696408	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:10696408G>A	uc002kor.3	-	4	629	c.489C>T	c.(487-489)TTC>TTT	p.F163F	FAM38B_uc002koq.2_Silent_p.F61F	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2206	Helical; (Potential).					integral to membrane	ion channel activity			ovary(1)	1						CCCAAAAGCCGAAGACAATGA	0.547												
CHMP1B	57132	broad.mit.edu	37	18	11851987	11851987	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:11851987G>T	uc002kqe.2	+	1	599	c.477G>T	c.(475-477)GAG>GAT	p.E159D	GNAL_uc002kqc.2_Intron|GNAL_uc010dkz.2_Intron|GNAL_uc002kqd.2_Intron	NM_020412	NP_065145	Q7LBR1	CHM1B_HUMAN	chromatin modifying protein 1B	159				DE->AA: Diminishes interaction with VPS4B.	cell cycle|cell division|protein transport	cytosol|late endosome membrane	protein domain specific binding				0						TGGCAGATGAGGCGGGCCTCG	0.617												
C18orf19	125228	broad.mit.edu	37	18	13681823	13681823	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:13681823T>C	uc010dlh.2	-	3	686	c.254A>G	c.(253-255)CAA>CGA	p.Q85R	C18orf19_uc010dlg.2_Missense_Mutation_p.Q85R|C18orf19_uc010dli.2_Missense_Mutation_p.Q85R|C18orf19_uc002ksj.3_Missense_Mutation_p.Q85R|C18orf19_uc010dlj.2_Intron	NM_001098801	NP_001092271	Q96ND0	CR019_HUMAN	hypothetical protein LOC125228	85						integral to membrane				breast(2)	2						TTGCTTCCCTTGCTTATGGCG	0.478												
LAMA3	3909	broad.mit.edu	37	18	21422380	21422380	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:21422380C>T	uc002kuq.2	+	28	3444	c.3358C>T	c.(3358-3360)CGT>TGT	p.R1120C	LAMA3_uc002kur.2_Missense_Mutation_p.R1120C	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1120	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTGAGAGGACGTGTACCACA	0.488												
DSC2	1824	broad.mit.edu	37	18	28654830	28654830	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:28654830G>A	uc002kwl.3	-	12	2161	c.1707C>T	c.(1705-1707)GAC>GAT	p.D569D	DSC2_uc002kwk.3_Silent_p.D569D	NM_024422	NP_077740	Q02487	DSC2_HUMAN	desmocollin 2 isoform Dsc2a preproprotein	569	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TATCATTCACGTCTTGAAGTA	0.398												
FAM59A	64762	broad.mit.edu	37	18	29867432	29867432	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:29867432G>A	uc002kxl.2	-	4	1184	c.1128C>T	c.(1126-1128)CGC>CGT	p.R376R	FAM59A_uc002kxk.1_Silent_p.R376R	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	family with sequence similarity 59, member A	376										ovary(1)|skin(1)	2						TGAGCTCATCGCGGGCGTAGC	0.562												
KLHL14	57565	broad.mit.edu	37	18	30260447	30260447	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:30260447G>A	uc002kxm.1	-	6	1742	c.1354C>T	c.(1354-1356)CGC>TGC	p.R452C	KLHL14_uc010dmd.1_5'UTR	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	452	Kelch 3.					cytosol|endoplasmic reticulum membrane		p.R452C(1)		ovary(1)	1						GACACATAGCGCCATTCATTC	0.468												
DTNA	1837	broad.mit.edu	37	18	32346001	32346001	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:32346001C>T	uc010dmn.1	+	2	145	c.144C>T	c.(142-144)TGC>TGT	p.C48C	DTNA_uc002kxu.2_Silent_p.C48C|DTNA_uc010xbx.1_Silent_p.C48C|DTNA_uc002kxv.3_Silent_p.C48C|DTNA_uc002kxw.2_Silent_p.C48C|DTNA_uc002kxx.2_Silent_p.C48C|DTNA_uc010dmj.2_Silent_p.C48C|DTNA_uc002kxz.2_Silent_p.C48C|DTNA_uc002kxy.2_Silent_p.C48C|DTNA_uc010dmk.1_RNA|DTNA_uc010dml.2_Silent_p.C48C|DTNA_uc002kyb.3_Silent_p.C48C|DTNA_uc010dmm.2_Silent_p.C48C	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	48	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0						AGAAGAAATGCAATTGTAAGT	0.388												
DTNA	1837	broad.mit.edu	37	18	32391993	32391993	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:32391993A>C	uc010dmn.1	+	5	520	c.519A>C	c.(517-519)GAA>GAC	p.E173D	DTNA_uc002kxu.2_Missense_Mutation_p.E173D|DTNA_uc010xbx.1_Missense_Mutation_p.E173D|DTNA_uc002kxv.3_Missense_Mutation_p.E173D|DTNA_uc002kxw.2_Missense_Mutation_p.E173D|DTNA_uc002kxx.2_Missense_Mutation_p.E173D|DTNA_uc010dmj.2_Missense_Mutation_p.E173D|DTNA_uc002kxz.2_Missense_Mutation_p.E173D|DTNA_uc002kxy.2_Missense_Mutation_p.E173D|DTNA_uc010dmk.1_RNA|DTNA_uc010dml.2_Missense_Mutation_p.E173D|DTNA_uc002kyb.3_Missense_Mutation_p.E173D|DTNA_uc010dmm.2_Missense_Mutation_p.E173D	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	173	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0						TCCTTCGGGAAGTTCTCAAAC	0.408												
SLC14A2	8170	broad.mit.edu	37	18	43205723	43205723	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:43205723G>A	uc010dnj.2	+	4	547	c.226G>A	c.(226-228)GAC>AAC	p.D76N	SLC14A2_uc002lbb.2_Missense_Mutation_p.D76N|SLC14A2_uc002lbe.2_Missense_Mutation_p.D76N	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	76						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						AAGGAAAGACGACGGGGTGGC	0.512												
KIAA1632	57724	broad.mit.edu	37	18	43532417	43532417	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:43532417G>A	uc002lbm.2	-	3	1301	c.1201C>T	c.(1201-1203)CTC>TTC	p.L401F	KIAA1632_uc002lbo.1_Missense_Mutation_p.L401F	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	401					autophagy						0						GAACTACTGAGCAATGCATAG	0.423												
RNF165	494470	broad.mit.edu	37	18	44036544	44036544	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:44036544A>C	uc002lcb.1	+	8	1037	c.986A>C	c.(985-987)AAG>ACG	p.K329T	RNF165_uc002lby.1_Missense_Mutation_p.K262T|RNF165_uc010dnn.1_Missense_Mutation_p.K125T	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	ring finger protein 165	329	RING-type; atypical.						zinc ion binding				0				READ - Rectum adenocarcinoma(1;0.0873)		GCCATGAGCAAGAAATGCCCC	0.577												
MYO5B	4645	broad.mit.edu	37	18	47511134	47511134	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:47511134G>A	uc002leb.2	-	8	1188	c.900C>T	c.(898-900)GAC>GAT	p.D300D	MYO5B_uc002lec.1_Silent_p.D299D	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	300	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		CCTCAGCATCGTCCACACCCT	0.557												
DCC	1630	broad.mit.edu	37	18	50278453	50278453	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:50278453C>T	uc002lfe.1	+	2	708	c.121C>T	c.(121-123)CGC>TGC	p.R41C	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	41	Extracellular (Potential).|Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CACAGCACTGCGCTTCCTCTC	0.478												
ZNF532	55205	broad.mit.edu	37	18	56586354	56586354	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:56586354G>A	uc002lho.2	+	4	1382	c.835G>A	c.(835-837)GCT>ACT	p.A279T	ZNF532_uc002lhp.2_Missense_Mutation_p.A277T|ZNF532_uc010xeg.1_Missense_Mutation_p.A277T|ZNF532_uc002lhr.2_Missense_Mutation_p.A277T|ZNF532_uc002lhs.2_Missense_Mutation_p.A277T	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						GGCTCTCAGCGCTAAAAAGGC	0.557												
HMSD	284293	broad.mit.edu	37	18	61621687	61621687	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:61621687C>T	uc010dqj.2	+	3	267	c.118C>T	c.(118-120)CGA>TGA	p.R40*		NM_001123366	NP_001116838	A8MTL9	HMSD_HUMAN	histocompatibility (minor) serpin domain	40						extracellular region	serine-type endopeptidase inhibitor activity				0						AGATATTCATCGAGGTTTTCA	0.348												
DSEL	92126	broad.mit.edu	37	18	65180462	65180462	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:65180462T>G	uc002lke.1	-	2	2638	c.1414A>C	c.(1414-1416)AGT>CGT	p.S472R		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	462						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				GGGTTAAAACTTCTCCACCCA	0.443												
SOCS6	9306	broad.mit.edu	37	18	67993058	67993058	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:67993058A>G	uc002lkr.1	+	2	1470	c.1154A>G	c.(1153-1155)TAC>TGC	p.Y385C	SOCS6_uc010dqq.2_Missense_Mutation_p.Y385C	NM_004232	NP_004223	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	385	SH2.				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				large_intestine(1)|lung(1)	2		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CAAGGATGGTACTGGGGACCA	0.488												
ZNF236	7776	broad.mit.edu	37	18	74649204	74649204	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:74649204G>A	uc002lmi.2	+	26	4879	c.4681G>A	c.(4681-4683)GTG>ATG	p.V1561M	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1561					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CTCGTCGGGCGTGGGAGGTGA	0.542												
KCNG2	26251	broad.mit.edu	37	18	77659062	77659062	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:77659062G>A	uc010xfl.1	+	2	647	c.647G>A	c.(646-648)CGC>CAC	p.R216H		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	216					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCCAAGTGCCGCAGCCTGTTC	0.706												
PQLC1	80148	broad.mit.edu	37	18	77679327	77679327	+	Silent	SNP	G	G	A	rs34425104	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:77679327G>A	uc002lnl.2	-	5	637	c.465C>T	c.(463-465)GGC>GGT	p.G155G	PQLC1_uc010dre.2_Silent_p.G72G|PQLC1_uc002lnk.2_Silent_p.G137G|PQLC1_uc010xfm.1_Intron	NM_025078	NP_079354	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1 isoform 1	155	Helical; (Potential).					integral to membrane				large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		AGCCCGCCACGCCCGTGAAGG	0.632												
PPAP2C	8612	broad.mit.edu	37	19	288132	288132	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:288132G>A	uc002loi.2	-	2	191	c.92C>T	c.(91-93)CCG>CTG	p.P31L	PPAP2C_uc002loh.2_Missense_Mutation_p.P52L|PPAP2C_uc002loj.2_5'UTR	NM_003712	NP_003703	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C isoform 1	31					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)	1		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGCTTGTACGGGGCGTTCAC	0.627												
MIER2	54531	broad.mit.edu	37	19	313553	313553	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:313553C>T	uc002lok.1	-	8	755	c.746G>A	c.(745-747)CGT>CAT	p.R249H		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family	249	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCGTGCCAACGCCGCTTCAC	0.652												
THEG	51298	broad.mit.edu	37	19	362241	362241	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:362241C>T	uc002lol.2	-	8	1138	c.1099G>A	c.(1099-1101)GCA>ACA	p.A367T	THEG_uc002lom.2_Missense_Mutation_p.A343T	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Theg homolog isoform 1	367					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			ovary(1)	1		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGGTGATGCTTTTGGGGGT	0.577												
BSG	682	broad.mit.edu	37	19	580705	580705	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:580705A>G	uc002loz.2	+	5	813	c.715A>G	c.(715-717)ATG>GTG	p.M239V	BSG_uc002loy.2_Missense_Mutation_p.M59V|BSG_uc002lpa.2_Missense_Mutation_p.M123V|BSG_uc002lpb.2_RNA|BSG_uc010drr.2_Missense_Mutation_p.M123V|BSG_uc002lpc.2_Missense_Mutation_p.M286V|BSG_uc002lpd.2_5'Flank	NM_001728	NP_001719	P35613	BASI_HUMAN	basigin isoform 1 precursor	239	Extracellular (Potential).|Ig-like V-type.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGACGGCCATGCTGGTCTG	0.602												
LPPR3	79948	broad.mit.edu	37	19	814902	814902	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:814902C>T	uc002lpx.1	-	5	647	c.583G>A	c.(583-585)GCC>ACC	p.A195T	LPPR3_uc010dru.1_Missense_Mutation_p.A107T|LPPR3_uc002lpw.1_Missense_Mutation_p.A195T|LPPR3_uc002lpy.1_5'UTR	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN	plasticity-related protein 2	195						integral to membrane	phosphatidate phosphatase activity				0						GACAGGATGGCGTGGATGTCG	0.627												
HMHA1	23526	broad.mit.edu	37	19	1074128	1074128	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:1074128C>T	uc002lqz.1	+	7	1047	c.816C>T	c.(814-816)GAC>GAT	p.D272D	HMHA1_uc010xgd.1_Silent_p.D288D|HMHA1_uc010xge.1_Silent_p.D112D|HMHA1_uc002lra.1_Silent_p.D112D|HMHA1_uc002lrb.1_Silent_p.D155D	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	272					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAGGTGGACGTGCTGCTAC	0.657												
ADAMTSL5	339366	broad.mit.edu	37	19	1510219	1510219	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:1510219C>T	uc002ltd.2	-	5	735	c.291G>A	c.(289-291)CAG>CAA	p.Q97Q	ADAMTSL5_uc010dsl.2_Translation_Start_Site|ADAMTSL5_uc010xgq.1_Silent_p.Q107Q	NM_213604	NP_998769	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5 precursor	97						proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGGGCACACTGTAGGTCTC	0.627												
ATP8B3	148229	broad.mit.edu	37	19	1789638	1789638	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:1789638G>T	uc002ltw.2	-	23	2801	c.2567C>A	c.(2566-2568)TCC>TAC	p.S856Y	ATP8B3_uc002ltv.2_Missense_Mutation_p.S819Y|ATP8B3_uc002ltx.2_Intron	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	856	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCCTCCTGGACTGGCCGAG	0.706												
AP3D1	8943	broad.mit.edu	37	19	2129435	2129435	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:2129435T>C	uc002luz.2	-	7	837	c.614A>G	c.(613-615)AAT>AGT	p.N205S	AP3D1_uc002luy.2_Intron|AP3D1_uc002lva.2_Missense_Mutation_p.N205S	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	205	HEAT 4.				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGATGACATTGACGGCAGC	0.577												
ZNF554	115196	broad.mit.edu	37	19	2823039	2823039	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:2823039T>C	uc002lwm.2	+	2	253	c.55T>C	c.(55-57)TCT>CCT	p.S19P	ZNF554_uc002lwl.2_5'UTR	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCCACAGCTCTGCCTGCCC	0.602												
PIAS4	51588	broad.mit.edu	37	19	4037403	4037403	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:4037403G>T	uc002lzg.2	+	10	1184	c.1174G>T	c.(1174-1176)GAC>TAC	p.D392Y		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	392					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGTGTGAGGACGCCGACGA	0.701												
TMIGD2	126259	broad.mit.edu	37	19	4292852	4292852	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:4292852C>T	uc002lzx.1	-	5	639	c.593G>A	c.(592-594)CGG>CAG	p.R198Q	TMIGD2_uc010dtv.1_Missense_Mutation_p.R194Q	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain	198	Cytoplasmic (Potential).					integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCCGGGGCCGGTATAGGAC	0.587												
UBXN6	80700	broad.mit.edu	37	19	4453937	4453937	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:4453937G>A	uc002man.1	-	2	333	c.237C>T	c.(235-237)ATC>ATT	p.I79I	UBXN6_uc010dty.1_Silent_p.I26I|UBXN6_uc002mam.1_Silent_p.I26I	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	79						microtubule organizing center|nucleus	protein binding				0						CCTGGTTTCGGATGGTGTCCT	0.657												
UHRF1	29128	broad.mit.edu	37	19	4932942	4932942	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:4932942G>A	uc002mbo.2	+	5	927	c.759G>A	c.(757-759)CGG>CGA	p.R253R	UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Silent_p.R266R	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains	253					cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GGACGGCGCGGGAACTCTACG	0.667												
PTPRS	5802	broad.mit.edu	37	19	5244164	5244164	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:5244164C>T	uc002mbv.2	-	11	1552	c.1318G>A	c.(1318-1320)GCG>ACG	p.A440T	PTPRS_uc002mbu.1_Missense_Mutation_p.A427T|PTPRS_uc010xin.1_Missense_Mutation_p.A427T|PTPRS_uc002mbw.2_Missense_Mutation_p.A427T|PTPRS_uc002mbx.2_Missense_Mutation_p.A431T|PTPRS_uc002mby.2_Missense_Mutation_p.A427T	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	440	Extracellular (Potential).|Fibronectin type-III 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		ATGGTGGTCGCGCTGAGCATC	0.711												
ZNRF4	148066	broad.mit.edu	37	19	5455507	5455507	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:5455507C>T	uc002mca.3	+	1	82	c.5C>T	c.(4-6)CCG>CTG	p.P2L		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	2						integral to membrane	zinc ion binding			large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CGACGCATGCCGCTCTGCCGT	0.617												
LONP1	9361	broad.mit.edu	37	19	5699204	5699204	+	Missense_Mutation	SNP	C	C	T	rs143983421		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:5699204C>T	uc002mcx.2	-	10	1552	c.1519G>A	c.(1519-1521)GTT>ATT	p.V507I	LONP1_uc002mcy.2_Missense_Mutation_p.V443I|LONP1_uc010duh.2_Missense_Mutation_p.V248I|LONP1_uc010dui.2_Missense_Mutation_p.V491I|LONP1_uc002mcz.2_Missense_Mutation_p.V311I	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	507					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0						AGCTGGCTAACGGCAATGAAC	0.647												
MLLT1	4298	broad.mit.edu	37	19	6213094	6213094	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:6213094C>T	uc002mek.2	-	12	1803	c.1639G>A	c.(1639-1641)GTG>ATG	p.V547M		NM_005934	NP_005925	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	547					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			skin(1)	1						AGTTTGCGCACGGTGGTCTCG	0.642			T	MLL	AL							
FCER2	2208	broad.mit.edu	37	19	7754113	7754113	+	Missense_Mutation	SNP	C	C	T	rs149654388		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:7754113C>T	uc002mhn.2	-	11	1116	c.932G>A	c.(931-933)CGC>CAC	p.R311H	FCER2_uc010xjs.1_Missense_Mutation_p.R233H|FCER2_uc010xjt.1_Missense_Mutation_p.R233H|FCER2_uc002mhm.2_Missense_Mutation_p.R311H	NM_002002	NP_001993	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor	311	Extracellular (Potential).				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding				0						GGTGGGCAGGCGGCCGTCAGG	0.652												
EVI5L	115704	broad.mit.edu	37	19	7914211	7914211	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:7914211A>G	uc002min.2	+	5	776	c.622A>G	c.(622-624)ATG>GTG	p.M208V	EVI5L_uc010xjz.1_Missense_Mutation_p.M208V|EVI5L_uc002mio.1_5'Flank	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like isoform	208	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						CCTGCTCCTCATGCAGGTAGG	0.647												
SNAPC2	6618	broad.mit.edu	37	19	7986931	7986931	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:7986931C>T	uc002miw.1	+	4	407	c.384C>T	c.(382-384)ATC>ATT	p.I128I	SNAPC2_uc002mix.1_RNA	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex,	128					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity				0						TGCTCACCATCGCGGCCACGG	0.627												
FBN3	84467	broad.mit.edu	37	19	8190851	8190851	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:8190851C>T	uc002mjf.2	-	21	2677	c.2656G>A	c.(2656-2658)GTC>ATC	p.V886I		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	886	EGF-like 11; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						GCAGTGTTGACGCAACGCCCG	0.637												
LASS4	79603	broad.mit.edu	37	19	8321559	8321559	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:8321559C>T	uc002mjg.2	+	8	897	c.577C>T	c.(577-579)CTG>TTG	p.L193L	LASS4_uc002mjh.2_Silent_p.L142L|LASS4_uc002mji.2_Silent_p.L29L|LASS4_uc010dvz.2_Silent_p.L193L	NM_024552	NP_078828	Q9HA82	CERS4_HUMAN	LAG1 homolog, ceramide synthase 4	193	TLC.|Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			ovary(1)	1						CTACCTCTCACTGCTAATCAG	0.572												
ACTL9	284382	broad.mit.edu	37	19	8808899	8808899	+	Silent	SNP	C	C	T	rs138094625	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:8808899C>T	uc002mkl.2	-	1	274	c.153G>A	c.(151-153)GTG>GTA	p.V51V		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	actin-like 9	51						cytoplasm|cytoskeleton				large_intestine(2)|pancreas(1)	3						CAATAACCACCACGCCGGTCT	0.652												
MUC16	94025	broad.mit.edu	37	19	9046249	9046249	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:9046249T>G	uc002mkp.2	-	5	35586	c.35382A>C	c.(35380-35382)CAA>CAC	p.Q11794H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11796	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TCTCTGATACTTGAGGAAACA	0.478												
MUC16	94025	broad.mit.edu	37	19	9049228	9049228	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:9049228C>T	uc002mkp.2	-	5	32607	c.32403G>A	c.(32401-32403)GCG>GCA	p.A10801A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10803	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TTGTCTTTGCCGCCAAACTGG	0.507												
OR7D4	125958	broad.mit.edu	37	19	9324694	9324694	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:9324694C>T	uc002mla.1	-	1	820	c.820G>A	c.(820-822)GCC>ACC	p.A274T		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D,	274	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						ATCACTGAGGCGGTGGAGCTG	0.552												
ZNF559	84527	broad.mit.edu	37	19	9453697	9453697	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:9453697T>G	uc002mlg.2	+	7	2217	c.1570T>G	c.(1570-1572)TGT>GGT	p.C524G	ZNF559_uc002mlf.2_Missense_Mutation_p.C293G|ZNF559_uc010dwl.1_Missense_Mutation_p.C293G|ZNF559_uc010xkn.1_Missense_Mutation_p.C516G|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Missense_Mutation_p.C588G|ZNF559_uc010dwk.1_Missense_Mutation_p.C293G|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN	zinc finger protein 559	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ATATAAGGAATGTGGGCAAAC	0.423												
DNMT1	1786	broad.mit.edu	37	19	10251513	10251513	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:10251513C>T	uc002mng.2	-	31	3599	c.3419G>A	c.(3418-3420)CGG>CAG	p.R1140Q	DNMT1_uc002mne.2_5'Flank|DNMT1_uc002mnf.2_Missense_Mutation_p.R64Q|DNMT1_uc010xlc.1_Missense_Mutation_p.R1156Q|DNMT1_uc002mnh.2_Missense_Mutation_p.R1035Q|DNMT1_uc010xld.1_Missense_Mutation_p.R1140Q	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	1140	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	ATCCAGGGTCCGCAGCTTGGG	0.617												
DNMT1	1786	broad.mit.edu	37	19	10260184	10260184	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:10260184A>G	uc002mng.2	-	25	2663	c.2483T>C	c.(2482-2484)ATC>ACC	p.I828T	DNMT1_uc010xlc.1_Missense_Mutation_p.I844T|DNMT1_uc002mnh.2_Missense_Mutation_p.I723T|DNMT1_uc010xld.1_Missense_Mutation_p.I828T	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	828	BAH 1.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TTTGCTGTGGATATATGAAAG	0.567												
CARM1	10498	broad.mit.edu	37	19	11032425	11032425	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:11032425G>A	uc002mpz.2	+	16	1945	c.1819G>A	c.(1819-1821)GGG>AGG	p.G607R	CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_Missense_Mutation_p.G367R	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	coactivator-associated arginine	607	Transactivation domain (By similarity).				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding				0						CATGCACTACGGGAGCTAGGG	0.542												
RGL3	57139	broad.mit.edu	37	19	11526717	11526717	+	Missense_Mutation	SNP	G	G	A	rs139040605		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:11526717G>A	uc002mrp.2	-	5	597	c.533C>T	c.(532-534)GCG>GTG	p.A178V	RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mro.2_Missense_Mutation_p.A178V	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation	178	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				ovary(1)	1						CCCTGGGGCCGCCCAGCCCAG	0.617												
CCDC151	115948	broad.mit.edu	37	19	11534692	11534692	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:11534692G>A	uc002mrs.2	-	8	1113	c.970C>T	c.(970-972)CGC>TGC	p.R324C	CCDC151_uc002mrr.2_Missense_Mutation_p.R259C|CCDC151_uc010dxz.2_Missense_Mutation_p.R264C	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	324	Potential.									ovary(1)	1						AGGTGCTCGCGGTGGGTCTGC	0.657												
ZNF439	90594	broad.mit.edu	37	19	11979192	11979192	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:11979192A>G	uc002mss.2	+	3	1436	c.1308A>G	c.(1306-1308)AAA>AAG	p.K436K	ZNF439_uc002msr.2_Silent_p.K300K	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						CTGGAGAGAAACCGTATCAAT	0.448												
ZNF709	163051	broad.mit.edu	37	19	12575998	12575998	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:12575998G>T	uc002mtv.3	-	4	899	c.738C>A	c.(736-738)CAC>CAA	p.H246Q	ZNF709_uc002mtw.3_Missense_Mutation_p.H214Q|ZNF709_uc002mtx.3_Missense_Mutation_p.H246Q	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	zinc finger protein 709 isoform a	246	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCTCTCCAGAGTGAGTTCTTT	0.393												
ASNA1	439	broad.mit.edu	37	19	12848425	12848425	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:12848425A>G	uc002muv.2	+	1	120	c.106A>G	c.(106-108)AGC>GGC	p.S36G	C19orf43_uc002muu.2_5'Flank|ASNA1_uc002muw.2_Missense_Mutation_p.S36G	NM_004317	NP_004308	O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog	36					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding			ovary(2)	2					Adenosine triphosphate(DB00171)	CGAGCAGCGCAGCCTGAAGTG	0.632												
MAST1	22983	broad.mit.edu	37	19	12962928	12962928	+	Splice_Site	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:12962928G>T	uc002mvm.2	+	9	1005	c.877_splice	c.e9-1	p.E293_splice	MAST1_uc002mvk.2_Splice_Site_p.E289_splice	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase						cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						CCCTGCCTCAGGAATTCAACC	0.647												
MAST1	22983	broad.mit.edu	37	19	12977542	12977542	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:12977542G>A	uc002mvm.2	+	18	2233	c.2105G>A	c.(2104-2106)CGC>CAC	p.R702H		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	702	AGC-kinase C-terminal.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						GTGGAAATCCGCCAGTTCTCT	0.622												
MAST1	22983	broad.mit.edu	37	19	12984600	12984600	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:12984600C>T	uc002mvm.2	+	26	3757	c.3629C>T	c.(3628-3630)ACG>ATG	p.T1210M		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	1210					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						CTGGCACACACGCCGTCCCCC	0.677												
GCDH	2639	broad.mit.edu	37	19	13006913	13006913	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:13006913A>G	uc002mvq.2	+	7	690	c.613A>G	c.(613-615)ACC>GCC	p.T205A	GCDH_uc010xms.1_Missense_Mutation_p.T172A|GCDH_uc002mvp.2_Missense_Mutation_p.T205A|GCDH_uc010xmt.1_Silent_p.T50T|GCDH_uc010xmu.1_Missense_Mutation_p.T161A	NM_000159	NP_000150	Q92947	GCDH_HUMAN	glutaryl-Coenzyme A dehydrogenase isoform a	205					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding				0						CAAGAGCTACACCCTCAATGG	0.602												
C19orf57	79173	broad.mit.edu	37	19	14000134	14000134	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:14000134T>C	uc002mxl.1	-	6	1594	c.1535A>G	c.(1534-1536)CAG>CGG	p.Q512R	C19orf57_uc002mxk.1_Missense_Mutation_p.Q394R|C19orf57_uc002mxm.1_Intron	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	hypothetical protein LOC79173	512					multicellular organismal development		protein binding			ovary(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GTGGTCTCGCTGCCCTGCCAG	0.602												
LPHN1	22859	broad.mit.edu	37	19	14269309	14269309	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:14269309C>T	uc010xnn.1	-	13	2516	c.2220G>A	c.(2218-2220)ACG>ACA	p.T740T	LPHN1_uc010xno.1_Silent_p.T735T|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	740	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						TGGCATTCTCCGTGGACAGGA	0.587												
LPHN1	22859	broad.mit.edu	37	19	14271040	14271040	+	Missense_Mutation	SNP	C	C	T	rs149895143	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:14271040C>T	uc010xnn.1	-	9	1995	c.1699G>A	c.(1699-1701)GCG>ACG	p.A567T	LPHN1_uc010xno.1_Missense_Mutation_p.A562T|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	567	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						ACGTCCCCCGCGTAGATGGAG	0.672												
SYDE1	85360	broad.mit.edu	37	19	15223187	15223187	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:15223187C>T	uc002nah.1	+	7	1640	c.1609C>T	c.(1609-1611)CGC>TGC	p.R537C	SYDE1_uc002nai.1_Missense_Mutation_p.R470C|SYDE1_uc002naj.1_Missense_Mutation_p.R194C	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1	537	Rho-GAP.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|pancreas(1)	2						GGACCACCTGCGCCTCGTCTC	0.622												
NOTCH3	4854	broad.mit.edu	37	19	15302455	15302455	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:15302455C>T	uc002nan.2	-	6	892	c.816G>A	c.(814-816)ACG>ACA	p.T272T	NOTCH3_uc002nao.1_Silent_p.T272T	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	272	Extracellular (Potential).|EGF-like 6; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCACGTCCTCCGTGCAGAACT	0.652												
WIZ	58525	broad.mit.edu	37	19	15558926	15558926	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:15558926C>A	uc002nbb.3	-	2	407	c.193G>T	c.(193-195)GGT>TGT	p.G65C	MIR1470_hsa-mir-1470|MI0007075_5'Flank	NM_021241	NP_067064	O95785	WIZ_HUMAN	widely-interspaced zinc finger motifs	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						nucleus	zinc ion binding				0						GAGATGCCACCTCTGCCATCC	0.642												
CPAMD8	27151	broad.mit.edu	37	19	17014528	17014528	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:17014528A>G	uc002nfb.2	-	33	4564	c.4532T>C	c.(4531-4533)GTT>GCT	p.V1511A	CPAMD8_uc002nfd.1_5'Flank	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1464						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						TGTCTGCAGAACCTTCTGGTT	0.587												
MAP1S	55201	broad.mit.edu	37	19	17836734	17836734	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:17836734G>A	uc002nhe.1	+	5	550	c.541G>A	c.(541-543)GCT>ACT	p.A181T	MAP1S_uc010eaz.1_RNA|MAP1S_uc010eba.1_Missense_Mutation_p.A181T|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Missense_Mutation_p.A155T	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	181	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1						GCTGGCACCCGCTGTGCCTGG	0.682												
SLC5A5	6528	broad.mit.edu	37	19	17983369	17983369	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:17983369T>C	uc002nhr.3	+	1	588	c.241T>C	c.(241-243)TAT>CAT	p.Y81H		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium iodide	81	Extracellular (Potential).				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4						GTCGGAGGCCTATCGCTATGG	0.682												
NCAN	1463	broad.mit.edu	37	19	19337487	19337487	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:19337487A>C	uc002nlz.2	+	7	1364	c.1265A>C	c.(1264-1266)AAG>ACG	p.K422T	NCAN_uc010ecc.1_5'UTR	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	422					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			TTGGAGGAGAAGCAGGAGTCT	0.622												
ZNF431	170959	broad.mit.edu	37	19	21350433	21350433	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:21350433A>G	uc002npp.2	+	4	430	c.283A>G	c.(283-285)AAT>GAT	p.N95D	ZNF431_uc010ecq.2_5'UTR|ZNF431_uc010ecr.2_Missense_Mutation_p.N96D	NM_133473	NP_597730	Q8TF32	ZN431_HUMAN	zinc finger protein 431	95	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)	2						AGAGCCCTGGAATATGAAGAG	0.388												
ZNF100	163227	broad.mit.edu	37	19	21927746	21927746	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:21927746A>C	uc002nqi.2	-	3	419	c.220T>G	c.(220-222)TTG>GTG	p.L74V	ZNF100_uc002nqh.2_Missense_Mutation_p.L11V	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	74	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTCTCACCCAAGAAGACCAGG	0.383												
ZNF43	7594	broad.mit.edu	37	19	21992387	21992387	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:21992387C>T	uc002nqj.2	-	4	582	c.452G>A	c.(451-453)TGT>TAT	p.C151Y	ZNF43_uc010ecv.2_Missense_Mutation_p.C145Y|ZNF43_uc002nql.2_Missense_Mutation_p.C145Y|ZNF43_uc002nqm.2_Missense_Mutation_p.C145Y|ZNF43_uc002nqk.2_Missense_Mutation_p.C81Y	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GGCTTTCACACATTTATCAAA	0.328												
TSHZ3	57616	broad.mit.edu	37	19	31769144	31769144	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:31769144C>T	uc002nsy.3	-	2	1620	c.1555G>A	c.(1555-1557)GGG>AGG	p.G519R		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	519					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)					ATATCAAGCCCCCCCTTGGGA	0.488												
ZNF507	22847	broad.mit.edu	37	19	32873756	32873756	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:32873756A>G	uc002nte.2	+	7	2901	c.2629A>G	c.(2629-2631)ACC>GCC	p.T877A	ZNF507_uc002ntd.2_Missense_Mutation_p.T877A	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	877					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(110;0.162)					AGTTCTGGGTACCAACGAGAA	0.453												
ZNF302	55900	broad.mit.edu	37	19	35173767	35173767	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:35173767T>C	uc002nvr.1	+	4	490	c.227T>C	c.(226-228)GTG>GCG	p.V76A	ZNF302_uc010xrz.1_Missense_Mutation_p.V32A|ZNF302_uc002nvp.1_Missense_Mutation_p.V32A|ZNF302_uc002nvq.1_Missense_Mutation_p.V32A|ZNF302_uc002nvs.1_Missense_Mutation_p.V32A	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	zinc finger protein 302	Error:Variant_position_missing_in_Q9NR11_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TACAAGGATGTGATGGTCCAG	0.448												
GRAMD1A	57655	broad.mit.edu	37	19	35501006	35501006	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:35501006C>T	uc010xse.1	+	5	473	c.336C>T	c.(334-336)TGC>TGT	p.C112C	GRAMD1A_uc002nxi.1_Silent_p.C199C|GRAMD1A_uc002nxk.2_Silent_p.C105C|GRAMD1A_uc002nxl.2_5'UTR|GRAMD1A_uc010xsf.1_Silent_p.C117C	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	112	GRAM.					integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ATTACTCCTGCGCCCTGCAGC	0.647												
ARHGAP33	115703	broad.mit.edu	37	19	36273690	36273690	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:36273690T>C	uc002obr.1	+	15	1425	c.1340T>C	c.(1339-1341)CTG>CCG	p.L447P	ARHGAP33_uc002obs.1_Missense_Mutation_p.L447P|ARHGAP33_uc002obt.1_Missense_Mutation_p.L311P|ARHGAP33_uc010eel.2_Missense_Mutation_p.L35P|ARHGAP33_uc002obv.1_Missense_Mutation_p.L35P	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	447	Rho-GAP.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						CTGAGGCACCTGGCCCGCATG	0.662												
ALKBH6	84964	broad.mit.edu	37	19	36501501	36501501	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:36501501G>A	uc002oct.2	-	6	521	c.421C>T	c.(421-423)CGG>TGG	p.R141W	C19orf46_uc002ocr.1_5'Flank|C19orf46_uc002ocs.1_5'Flank|C19orf46_uc002ocq.1_5'Flank|C19orf46_uc010een.1_5'Flank|ALKBH6_uc002ocv.1_Missense_Mutation_p.R169W|ALKBH6_uc002ocx.1_Missense_Mutation_p.R72W|ALKBH6_uc002ocw.1_Missense_Mutation_p.A156V|ALKBH6_uc010eeo.1_Missense_Mutation_p.R141W|ALKBH6_uc010eep.1_3'UTR	NM_032878	NP_116267	Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 isoform 2	141	Fe2OG dioxygenase.					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCTGGCCGCCGCGGCTCGTAG	0.632												
ZNF790	388536	broad.mit.edu	37	19	37310989	37310989	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:37310989T>A	uc002oew.2	-	5	376	c.257A>T	c.(256-258)AAG>ATG	p.K86M	uc002oev.1_Intron	NM_206894	NP_996777	Q6PG37	ZN790_HUMAN	zinc finger protein 790	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TGGTAATAACTTCTTGGTCTG	0.323												
ZNF527	84503	broad.mit.edu	37	19	37879314	37879314	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:37879314T>C	uc010efk.1	+	5	474	c.363T>C	c.(361-363)CTT>CTC	p.L121L	ZNF527_uc002ogf.3_Silent_p.L89L|ZNF527_uc010xtq.1_RNA	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	zinc finger protein 527	121	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTCATGGCCTTGAATGCTCCA	0.423												
RYR1	6261	broad.mit.edu	37	19	39009883	39009883	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:39009883C>T	uc002oit.2	+	67	10178	c.10048C>T	c.(10048-10050)CGG>TGG	p.R3350W	RYR1_uc002oiu.2_Missense_Mutation_p.R3350W|RYR1_uc002oiv.1_Missense_Mutation_p.R270W|RYR1_uc010xuf.1_Missense_Mutation_p.R270W	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3350					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)	GAGCCGTGCACGGCCGGAGCT	0.667												
RYR1	6261	broad.mit.edu	37	19	39038900	39038900	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:39038900G>A	uc002oit.2	+	89	12252	c.12122G>A	c.(12121-12123)CGG>CAG	p.R4041Q	RYR1_uc002oiu.2_Missense_Mutation_p.R4036Q|RYR1_uc002oiv.1_Missense_Mutation_p.R950Q	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4041					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)	ATGATCGCCCGGCAGATGGTG	0.567												
LGALS4	3960	broad.mit.edu	37	19	39292738	39292738	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:39292738C>T	uc002ojg.2	-	9	933	c.719G>A	c.(718-720)CGC>CAC	p.R240H		NM_006149	NP_006140	P56470	LEG4_HUMAN	galectin-4	240	Galectin 2.				cell adhesion	cytosol|plasma membrane	sugar binding			ovary(1)|skin(1)	2	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GTTGCCCATGCGGGGATTAAT	0.562												
PAPL	390928	broad.mit.edu	37	19	39600757	39600757	+	Nonstop_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:39600757A>G	uc002oki.2	+	13	1590	c.1316A>G	c.(1315-1317)TAG>TGG	p.*439W	PAPL_uc010egl.2_3'UTR	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	iron/zinc purple acid phosphatase-like protein	439						extracellular region	acid phosphatase activity|metal ion binding				0						ATGTACCTCTAGGGATGGCGG	0.572											OREG0025457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SAMD4B	55095	broad.mit.edu	37	19	39870619	39870619	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:39870619C>T	uc002olb.2	+	12	2579	c.1544C>T	c.(1543-1545)ACG>ATG	p.T515M	SAMD4B_uc002ola.2_Missense_Mutation_p.T515M	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	515							protein binding				0	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TTCACGGAGACGCAGAAGAAA	0.512												
SUPT5H	6829	broad.mit.edu	37	19	39949665	39949665	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:39949665T>C	uc002olo.3	+	7	589	c.410T>C	c.(409-411)CTG>CCG	p.L137P	SUPT5H_uc002olp.3_Missense_Mutation_p.L137P|SUPT5H_uc002olq.3_Missense_Mutation_p.L133P|SUPT5H_uc002oln.3_Missense_Mutation_p.L137P|SUPT5H_uc002olr.3_Missense_Mutation_p.L137P	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	137					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GAAGAAGAACTGGGCGAGTAT	0.572												
SHKBP1	92799	broad.mit.edu	37	19	41086254	41086254	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:41086254G>A	uc002oob.2	+	7	474	c.425G>A	c.(424-426)CGG>CAG	p.R142Q	SHKBP1_uc002ooc.2_Missense_Mutation_p.R142Q|SHKBP1_uc002ood.2_Missense_Mutation_p.R142Q|SHKBP1_uc010xvl.1_Missense_Mutation_p.R65Q|SHKBP1_uc002ooe.2_5'UTR|SHKBP1_uc002oof.2_5'UTR|SHKBP1_uc010xvm.1_5'UTR|SHKBP1_uc010xvn.1_Missense_Mutation_p.R20Q	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	142						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|pancreas(1)	2			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGGCGGAACCGGCACAGCCTA	0.572												
HNRNPUL1	11100	broad.mit.edu	37	19	41808741	41808741	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:41808741G>A	uc002oqb.3	+	12	2148	c.1859G>A	c.(1858-1860)CGC>CAC	p.R620H	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.R520H|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.R520H|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.R620H|HNRNPUL1_uc002oqc.3_Missense_Mutation_p.R506H|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.R520H|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.R520H|HNRNPUL1_uc010eho.2_Missense_Mutation_p.R520H|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.R520H|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.R476H|HNRNPUL1_uc002oqf.3_Missense_Mutation_p.R144H	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	620	Necessary for transcription repression.|Necessary for interaction with TP53.|Gly-rich.|1-2.|5 X 3 AA repeats of R-G-G.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2						TTCCGGGGCCGCGGGGGTGGT	0.667												
B9D2	80776	broad.mit.edu	37	19	41860649	41860649	+	Missense_Mutation	SNP	C	C	T	rs138230110		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:41860649C>T	uc002oqj.2	-	4	704	c.484G>A	c.(484-486)GGC>AGC	p.G162S	CYP2F1_uc010xvw.1_Intron|TGFB1_uc002oqh.1_5'Flank|TMEM91_uc002oqi.2_Intron	NM_030578	NP_085055	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	162					cilium assembly|mitotic prometaphase	centrosome|cilium axoneme|cytosol|microtubule basal body|nucleus	gamma-tubulin binding			ovary(1)	1						AGCAGCAGGCCGATCTCCAGG	0.642												
PSG4	5672	broad.mit.edu	37	19	43708390	43708390	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:43708390G>A	uc002ovy.2	-	2	180	c.78C>T	c.(76-78)AAC>AAT	p.N26N	PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Silent_p.N26N|PSG4_uc002ovz.2_Silent_p.N26N	NM_002780	NP_002771	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4 isoform	26					defense response|female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00682)				GATTCCAGAAGTTTAAAAGTG	0.468												
ZNF283	284349	broad.mit.edu	37	19	44352263	44352263	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:44352263C>T	uc002oxr.3	+	7	1778	c.1510C>T	c.(1510-1512)CGA>TGA	p.R504*	ZNF283_uc002oxp.3_Nonsense_Mutation_p.R365*	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	504	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				TCAACTTACTCGACATCAGGT	0.403												
ZNF285	26974	broad.mit.edu	37	19	44891190	44891190	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:44891190C>T	uc002ozd.3	-	4	1304	c.1217G>A	c.(1216-1218)GGC>GAC	p.G406D	ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.G413D	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	406	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(2)	4						AAAGCACTTGCCACACTCACT	0.493												
ZNF229	7772	broad.mit.edu	37	19	44936458	44936458	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:44936458G>A	uc002oze.1	-	5	611	c.177C>T	c.(175-177)TAC>TAT	p.Y59Y	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Silent_p.Y59Y	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	59	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4		Prostate(69;0.0352)				TCACATCTTGGTACAGCTGCC	0.488												
NKPD1	284353	broad.mit.edu	37	19	45655788	45655788	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:45655788A>T	uc010xxi.1	-	4	1907	c.1907T>A	c.(1906-1908)CTG>CAG	p.L636Q		NM_198478	NP_940880			NTPase, KAP family P-loop domain containing 1												0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CTGCTGCTGCAGCAGGCGCAC	0.697												
VASP	7408	broad.mit.edu	37	19	46020980	46020980	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:46020980G>A	uc002pcg.2	+	2	407	c.65G>A	c.(64-66)CGA>CAA	p.R22Q	VASP_uc010eki.2_Missense_Mutation_p.D6N|VASP_uc002pci.2_Missense_Mutation_p.R9Q	NM_003370	NP_003361	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	22	WH1.				axon guidance|cell junction assembly|T cell receptor signaling pathway	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	actin binding|profilin binding|SH3 domain binding				0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		GGCAACAAGCGATGGCTCCCT	0.622												
EML2	24139	broad.mit.edu	37	19	46117919	46117919	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:46117919G>A	uc002pcn.2	-	17	1672	c.1637C>T	c.(1636-1638)GCT>GTT	p.A546V	EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Missense_Mutation_p.A430V|EML2_uc010xxl.1_Missense_Mutation_p.A693V|EML2_uc010xxm.1_Missense_Mutation_p.A747V	NM_012155	NP_036287	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like	546					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GTTCCTCACAGCATCCGCACT	0.527												
EML2	24139	broad.mit.edu	37	19	46141865	46141865	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:46141865C>T	uc002pcn.2	-	3	112	c.77G>A	c.(76-78)AGG>AAG	p.R26K	EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Intron|EML2_uc010xxl.1_Missense_Mutation_p.R173K|EML2_uc010xxm.1_Missense_Mutation_p.R227K|EML2_uc010xxn.1_RNA|EML2_uc010xxo.1_Missense_Mutation_p.R26K|EML2_uc010ekj.2_Missense_Mutation_p.R26K	NM_012155	NP_036287	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like	26					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		AGGGCGGCCCCTCAGGAACAT	0.612												
PRKD2	25865	broad.mit.edu	37	19	47178330	47178330	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:47178330C>T	uc002pfh.2	-	18	2726	c.2384G>A	c.(2383-2385)CGC>CAC	p.R795H	PRKD2_uc002pfd.2_Missense_Mutation_p.R169H|PRKD2_uc010eks.2_Missense_Mutation_p.R198H|PRKD2_uc010ekt.2_Missense_Mutation_p.R62H|PRKD2_uc002pfe.2_Missense_Mutation_p.R325H|PRKD2_uc002pff.2_Missense_Mutation_p.R315H|PRKD2_uc002pfg.2_Missense_Mutation_p.R638H|PRKD2_uc002pfi.2_Missense_Mutation_p.R795H|PRKD2_uc002pfj.2_Missense_Mutation_p.R795H|PRKD2_uc010xye.1_Missense_Mutation_p.R805H|PRKD2_uc002pfk.2_Missense_Mutation_p.R638H	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	795	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CACGCTGTAGCGTTTGCGCAT	0.567												
STRN4	29888	broad.mit.edu	37	19	47231155	47231155	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:47231155A>G	uc002pfl.2	-	8	1182	c.1149T>C	c.(1147-1149)CAT>CAC	p.H383H	STRN4_uc002pfm.2_Silent_p.H383H|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	383						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TCTTACCTTCATGTGGCCGGG	0.657												
STRN4	29888	broad.mit.edu	37	19	47242087	47242087	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:47242087A>G	uc002pfl.2	-	2	374	c.341T>C	c.(340-342)CTG>CCG	p.L114P	STRN4_uc002pfm.2_Missense_Mutation_p.L114P|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	114	Potential.					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CCGCCGCACCAGGTCCGTCTT	0.582												
CYTH2	9266	broad.mit.edu	37	19	48977543	48977543	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:48977543C>T	uc002pjj.3	+	7	952	c.652C>T	c.(652-654)CGG>TGG	p.R218W	CYTH2_uc002pji.2_RNA	NM_017457	NP_059431	Q99418	CYH2_HUMAN	cytohesin 2 isoform 1	218					actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						GGCCATGAACCGGGGCATCAA	0.642												
NUCB1	4924	broad.mit.edu	37	19	49409126	49409126	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:49409126C>T	uc002plb.3	+	4	432	c.360C>T	c.(358-360)GAC>GAT	p.D120D	NUCB1_uc002pla.2_Silent_p.D120D|NUCB1_uc002plc.2_Silent_p.D120D	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	nucleobindin 1 precursor	120						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding				0		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		CCAAGATGGACGCCGAGCAGG	0.657												
RPS11	6205	broad.mit.edu	37	19	50001234	50001234	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:50001234A>G	uc002pob.1	+	4	364	c.284A>G	c.(283-285)TAC>TGC	p.Y95C		NM_001015	NP_001006	P62280	RS11_HUMAN	ribosomal protein S11	95					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome				0		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		TATCTGCACTACATCCGCAAG	0.572												
TSKS	60385	broad.mit.edu	37	19	50266380	50266380	+	Missense_Mutation	SNP	C	C	T	rs146466500		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:50266380C>T	uc002ppm.2	-	1	136	c.125G>A	c.(124-126)CGG>CAG	p.R42Q		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	42							protein binding			large_intestine(1)|skin(1)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCTTGGCCCGGCTGGTCAC	0.617												
SIGLEC11	114132	broad.mit.edu	37	19	50455204	50455204	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:50455204G>A	uc010ybh.1	-	10	1865	c.1774C>T	c.(1774-1776)CGC>TGC	p.R592C	SIGLEC11_uc010ybi.1_Missense_Mutation_p.R496C	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11 isoform 1	592	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|central_nervous_system(2)|pancreas(1)	6		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GCCCTCTTGCGAGCTTCCTTC	0.642												
C19orf41	126123	broad.mit.edu	37	19	50666247	50666247	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:50666247C>T	uc002prp.1	-	1	292	c.205G>A	c.(205-207)GCG>ACG	p.A69T		NM_152358	NP_689571	Q6UXV1	IZUM2_HUMAN	hypothetical protein LOC126123 precursor	69	Extracellular (Potential).					integral to membrane					0		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052)		ACGTTCAGCGCGTAGTCCCGG	0.682												
KLK11	11012	broad.mit.edu	37	19	51525925	51525925	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:51525925T>C	uc002pvd.1	-	6	837	c.725A>G	c.(724-726)AAC>AGC	p.N242S	KLK10_uc002puy.2_5'Flank|KLK10_uc002puz.2_5'Flank|KLK10_uc002pva.2_5'Flank|KLK11_uc002pvb.1_Missense_Mutation_p.N235S|KLK11_uc002pve.1_Missense_Mutation_p.N99S|KLK11_uc002pvf.1_Missense_Mutation_p.N210S|KLK11_uc002pvc.3_Missense_Mutation_p.N210S	NM_144947	NP_659196	Q9UBX7	KLK11_HUMAN	kallikrein 11 isoform 2 precursor	242	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		AAGAGACTGGTTACAGACCAG	0.572												
ETFB	2109	broad.mit.edu	37	19	51848577	51848577	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:51848577G>A	uc002pwh.2	-	6	748	c.656C>T	c.(655-657)ACC>ATC	p.T219I	ETFB_uc002pwg.2_Missense_Mutation_p.T310I	NM_001985	NP_001976	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	219					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		GAGCTTGGAGGTCAGGTCCAC	0.587												
ZNF480	147657	broad.mit.edu	37	19	52825530	52825530	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:52825530T>C	uc010ydl.1	+	5	1097	c.1027T>C	c.(1027-1029)TAC>CAC	p.Y343H	ZNF480_uc002pyv.2_Missense_Mutation_p.Y266H|ZNF480_uc010ydm.1_Missense_Mutation_p.Y300H|ZNF480_uc010epn.2_Missense_Mutation_p.Y174H|uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	zinc finger protein 480	343	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		AGAGAAGCCTTACAAATGTGA	0.378												
ZNF468	90333	broad.mit.edu	37	19	53344411	53344411	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:53344411C>A	uc002qaf.2	-	4	1287	c.1136G>T	c.(1135-1137)GGA>GTA	p.G379V	ZNF468_uc002qae.2_Missense_Mutation_p.G326V	NM_001008801	NP_001008801	Q5VIY5	ZN468_HUMAN	zinc finger protein ZNF468 isoform 2	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0358)		AGGTTTCTCTCCAGTATGAAG	0.388												
ZNF347	84671	broad.mit.edu	37	19	53644898	53644898	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:53644898G>T	uc002qbb.1	-	5	1252	c.1183C>A	c.(1183-1185)CAC>AAC	p.H395N	ZNF347_uc010eql.1_Missense_Mutation_p.H396N|ZNF347_uc002qbc.1_Missense_Mutation_p.H396N	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	395	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		TCTCCACTGTGGGTTGCCTGA	0.418												
ZNF677	342926	broad.mit.edu	37	19	53740463	53740463	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:53740463T>A	uc002qbf.1	-	5	1702	c.1517A>T	c.(1516-1518)AAG>ATG	p.K506M	ZNF677_uc002qbg.1_Missense_Mutation_p.K506M	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	zinc finger protein 677	506	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00352)		ATGGATTTTCTTATGCTGAGT	0.388												
ZNF761	388561	broad.mit.edu	37	19	53958901	53958901	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:53958901A>G	uc010eqp.2	+	7	1598	c.1140A>G	c.(1138-1140)AAA>AAG	p.K380K	ZNF761_uc010ydy.1_Silent_p.K326K|ZNF761_uc002qbt.1_Silent_p.K326K	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		CTGGAGAGAAACCCTACAAAT	0.413												
ZNF813	126017	broad.mit.edu	37	19	53994944	53994944	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:53994944G>A	uc002qbu.2	+	4	1586	c.1458G>A	c.(1456-1458)ACG>ACA	p.T486T	ZNF813_uc010eqq.1_Intron	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	486	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TAATTCATACGGCAATTCATA	0.403												
NLRP12	91662	broad.mit.edu	37	19	54297342	54297342	+	Silent	SNP	C	C	T	rs148506660		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:54297342C>T	uc002qch.3	-	10	3367	c.3147G>A	c.(3145-3147)GCG>GCA	p.A1049A	NLRP12_uc010eqw.2_Silent_p.A275A|NLRP12_uc002qci.3_Silent_p.A992A|NLRP12_uc002qcj.3_Silent_p.A1050A|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_3'UTR	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	1049	LRR 8.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTACTCGAAGCGCTGCCAACC	0.463												
PRKCG	5582	broad.mit.edu	37	19	54406340	54406340	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:54406340A>G	uc002qcq.1	+	15	1871	c.1589A>G	c.(1588-1590)CAG>CGG	p.Q530R	PRKCG_uc010yeg.1_Missense_Mutation_p.Q530R|PRKCG_uc010yeh.1_Missense_Mutation_p.Q417R	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	530	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ATTGCCTACCAGCCCTATGGG	0.562												
CACNG7	59284	broad.mit.edu	37	19	54416138	54416138	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:54416138C>T	uc002qcr.1	+	1	68	c.53C>T	c.(52-54)GCG>GTG	p.A18V	CACNG7_uc010era.1_Missense_Mutation_p.A18V	NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	18	Helical; (Potential).				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(1)	1	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GTGTTTGGTGCGTGTGGCCTG	0.632												
PRPF31	26121	broad.mit.edu	37	19	54626916	54626916	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:54626916C>T	uc002qdh.2	+	6	900	c.504C>T	c.(502-504)AGC>AGT	p.S168S	PRPF31_uc010yek.1_Silent_p.S168S	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31 homolog	168					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			ovary(1)	1	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGGTCGTCAGCGTCACCGCCT	0.597												
CNOT3	4849	broad.mit.edu	37	19	54647433	54647433	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:54647433A>G	uc002qdj.1	+	5	517	c.206A>G	c.(205-207)AAC>AGC	p.N69S	CNOT3_uc010yel.1_Missense_Mutation_p.N69S|CNOT3_uc002qdi.2_5'UTR|CNOT3_uc002qdk.1_Missense_Mutation_p.N69S|CNOT3_uc010ere.1_RNA	NM_014516	NP_055331	O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	69					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GTAGCGTCCAACGAGATCAAG	0.443												
CNOT3	4849	broad.mit.edu	37	19	54649502	54649502	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:54649502G>A	uc002qdj.1	+	8	963	c.652G>A	c.(652-654)GAC>AAC	p.D218N	CNOT3_uc010yel.1_Missense_Mutation_p.D218N|CNOT3_uc002qdi.2_Missense_Mutation_p.D131N|CNOT3_uc002qdk.1_Missense_Mutation_p.D218N|CNOT3_uc010ere.1_RNA	NM_014516	NP_055331	O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	218					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCAGGACCCCGACTTCGAGGA	0.567												
LENG8	114823	broad.mit.edu	37	19	54967522	54967522	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:54967522C>T	uc002qfv.1	+	9	1356	c.1212C>T	c.(1210-1212)TCC>TCT	p.S404S	LENG8_uc002qfw.2_Silent_p.S441S			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	404	Ser-rich.						protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		ACTCAGACTCCGACAGCTCCT	0.662												
KIR2DL3	3804	broad.mit.edu	37	19	55263953	55263953	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:55263953T>C	uc002qgv.2	+	8	1026	c.1008T>C	c.(1006-1008)CTT>CTC	p.L336L	KIR2DS4_uc010yfj.1_5'Flank|KIR2DL3_uc002qgx.2_Silent_p.L336L|KIR2DL3_uc002qgy.2_Silent_p.L238L|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron|KIR3DP1_uc010yfi.1_5'Flank	NM_015868	NP_056952	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two	336	Cytoplasmic (Potential).				immune response|regulation of immune response	integral to plasma membrane	antigen binding|protein binding|receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(193;0.0192)		ACACGGAACTTCCAAATGCTG	0.507												
SYT5	6861	broad.mit.edu	37	19	55687082	55687082	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:55687082A>G	uc002qjm.1	-	4	1595	c.535T>C	c.(535-537)TTC>CTC	p.F179L	SYT5_uc002qjp.2_Missense_Mutation_p.F176L|SYT5_uc002qjn.1_Missense_Mutation_p.F179L|SYT5_uc002qjo.1_Missense_Mutation_p.F179L	NM_003180	NP_003171	O00445	SYT5_HUMAN	synaptotagmin V	179	Cytoplasmic (Potential).|C2 1.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CTCACCTTGAAGGCGAAGGTC	0.627												
TMEM150B	284417	broad.mit.edu	37	19	55828178	55828178	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:55828178C>T	uc010esw.1	-	7	654	c.481G>A	c.(481-483)GTC>ATC	p.V161I	TMEM150B_uc010yfu.1_Missense_Mutation_p.V161I|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN	transmembrane protein 150B precursor	161	Helical; (Potential).					integral to membrane					0						ATGGTGCAGACGCTGCAGAGG	0.622												
NLRP11	204801	broad.mit.edu	37	19	56321607	56321607	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:56321607G>A	uc010ygf.1	-	5	1080	c.369C>T	c.(367-369)GAC>GAT	p.D123D	NLRP11_uc002qlz.2_Silent_p.D24D|NLRP11_uc002qmb.2_Silent_p.D24D|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	123							ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CTGACGAAACGTCACGAAAAA	0.383												
NLRP4	147945	broad.mit.edu	37	19	56369846	56369846	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:56369846C>A	uc002qmd.3	+	3	1509	c.1087C>A	c.(1087-1089)CTG>ATG	p.L363M	NLRP4_uc002qmf.2_Missense_Mutation_p.L288M|NLRP4_uc010etf.2_Missense_Mutation_p.L194M	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	363	NACHT.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGACCTGGCCCTGACCTGCCA	0.537												
NLRP5	126206	broad.mit.edu	37	19	56515446	56515446	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:56515446C>T	uc002qmj.2	+	2	427	c.427C>T	c.(427-429)CGG>TGG	p.R143W	NLRP5_uc002qmi.2_Missense_Mutation_p.R143W	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	143	DAPIN.					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)		GGAGAAGGCACGGGATGACAT	0.512												
ZNF471	57573	broad.mit.edu	37	19	57036593	57036593	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:57036593T>C	uc002qnh.2	+	5	1290	c.1157T>C	c.(1156-1158)GTT>GCT	p.V386A		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	386	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GCCTTCAGTGTTCACATAGGA	0.408												
ZNF71	58491	broad.mit.edu	37	19	57133348	57133348	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:57133348G>A	uc002qnm.3	+	3	931	c.693G>A	c.(691-693)CAG>CAA	p.Q231Q		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	231	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CTCTCACCCAGCACGAGCGGA	0.637												
ZNF530	348327	broad.mit.edu	37	19	58117151	58117151	+	Silent	SNP	C	C	A	rs144915290		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:58117151C>A	uc002qpk.2	+	3	478	c.258C>A	c.(256-258)TCC>TCA	p.S86S	ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	86	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAGATACATCCACTGATAAGA	0.502												
ZNF551	90233	broad.mit.edu	37	19	58198191	58198191	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:58198191G>A	uc002qpw.3	+	3	723	c.500G>A	c.(499-501)TGT>TAT	p.C167Y	ZNF551_uc002qpv.3_Missense_Mutation_p.C110Y|ZNF776_uc002qpx.2_Intron	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	zinc finger protein 551	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TATTTCACCTGTGGGGAGGCC	0.512												
ZNF671	79891	broad.mit.edu	37	19	58232420	58232420	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:58232420T>C	uc002qpz.3	-	4	1133	c.1034A>G	c.(1033-1035)GAA>GGA	p.E345G	ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Missense_Mutation_p.E268G|ZNF671_uc010yhf.1_Missense_Mutation_p.E247G	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	345	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTTCCCACATTCGCTGCACTC	0.448												
ZNF587	84914	broad.mit.edu	37	19	58370966	58370966	+	Missense_Mutation	SNP	G	G	A	rs140156678		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:58370966G>A	uc002qql.2	+	3	1324	c.1186G>A	c.(1186-1188)GTT>ATT	p.V396I	ZNF587_uc002qqb.2_Missense_Mutation_p.V353I|ZNF587_uc010yhh.1_Missense_Mutation_p.V353I|ZNF587_uc002qqi.1_Missense_Mutation_p.V353I|ZNF587_uc002qqj.1_RNA|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.1_Missense_Mutation_p.V395I	NM_032828	NP_116217	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	396	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		GGGCAACCTCGTTCACCATCA	0.463												
ZNF132	7691	broad.mit.edu	37	19	58945384	58945384	+	Missense_Mutation	SNP	C	C	T	rs140714420		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:58945384C>T	uc002qst.3	-	3	1828	c.1427G>A	c.(1426-1428)CGA>CAA	p.R476Q		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	476	C2H2-type 10.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TTTCTGATGTCGAAGGAGATG	0.483												
SNTG2	54221	broad.mit.edu	37	2	1094066	1094066	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:1094066G>A	uc002qwq.2	+	4	423	c.295G>A	c.(295-297)GTC>ATC	p.V99I	SNTG2_uc002qwp.2_RNA|SNTG2_uc010ewi.2_Intron	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	99	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CGTCCCTGTCGTCATATCAAA	0.378												
PXDN	7837	broad.mit.edu	37	2	1653372	1653372	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:1653372C>T	uc002qxa.2	-	17	2244	c.2180G>A	c.(2179-2181)CGG>CAG	p.R727Q		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	727					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTTCACGCGCCGGTGGGCGGT	0.602												
ATP6V1C2	245973	broad.mit.edu	37	2	10923322	10923322	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:10923322T>C	uc002ras.2	+	14	1326	c.1217T>C	c.(1216-1218)CTG>CCG	p.L406P	ATP6V1C2_uc002rat.2_Missense_Mutation_p.L360P	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	vacuolar H+ ATPase C2 isoform a	406					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		ATCCCGGGACTGCAACTCAAT	0.423												
RAD51AP2	729475	broad.mit.edu	37	2	17697058	17697058	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:17697058T>C	uc002rcl.1	-	1	2649	c.2625A>G	c.(2623-2625)TCA>TCG	p.S875S	RAD51AP2_uc010exn.1_Silent_p.S866S	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	875										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTAATGAAACTGACTGTACAG	0.269												
KIF3C	3797	broad.mit.edu	37	2	26203671	26203671	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:26203671G>A	uc002rgu.2	-	1	1773	c.1116C>T	c.(1114-1116)AAC>AAT	p.N372N	KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Silent_p.N372N	NM_002254	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	372	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGGGTCCTCGTTCACCTGGG	0.607												
OTOF	9381	broad.mit.edu	37	2	26684636	26684636	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:26684636C>T	uc002rhk.2	-	43	5588	c.5461G>A	c.(5461-5463)GAG>AAG	p.E1821K	OTOF_uc010yla.1_Missense_Mutation_p.E551K|OTOF_uc002rhh.2_Missense_Mutation_p.E1054K|OTOF_uc002rhi.2_Missense_Mutation_p.E1131K|OTOF_uc002rhj.2_Missense_Mutation_p.E1054K	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1821	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTTGTACTCGGTCTCGTCC	0.607												
C2orf18	54978	broad.mit.edu	37	2	27001127	27001127	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:27001127C>T	uc002rhp.1	+	6	940	c.864C>T	c.(862-864)AGC>AGT	p.S288S	C2orf18_uc002rhq.1_Silent_p.S205S|C2orf18_uc010eyo.1_Silent_p.S235S|C2orf18_uc010ylc.1_Silent_p.S141S	NM_017877	NP_060347	Q8N357	CB018_HUMAN	ANT2-binding protein precursor	288						integral to membrane|lysosomal membrane					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAACTGAGCGCCACCACCC	0.612												
EMILIN1	11117	broad.mit.edu	37	2	27305128	27305128	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:27305128G>A	uc002rii.3	+	4	1117	c.689G>A	c.(688-690)CGC>CAC	p.R230H	EMILIN1_uc010eyq.1_Missense_Mutation_p.R230H|EMILIN1_uc002rik.3_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	230	Potential.				cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGGCTGCCCGCCCTGGGGTG	0.662												
CAD	790	broad.mit.edu	37	2	27458193	27458193	+	Silent	SNP	C	C	T	rs150732650		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:27458193C>T	uc002rji.2	+	24	4029	c.3867C>T	c.(3865-3867)GCC>GCT	p.A1289A	CAD_uc010eyw.2_Silent_p.A1226A	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1289	CPSase B.|CPSase (Carbamoyl-phosphate synthase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GGGAGGTGGCCGGCTTTGGGG	0.572												
CAD	790	broad.mit.edu	37	2	27460609	27460609	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:27460609C>T	uc002rji.2	+	29	4749	c.4587C>T	c.(4585-4587)TGC>TGT	p.C1529C	CAD_uc010eyw.2_Silent_p.C1466C	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1529	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GCGCCCGGTGCGACTTTGCGC	0.627												
TRIM54	57159	broad.mit.edu	37	2	27505617	27505617	+	Silent	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:27505617T>G	uc002rjo.2	+	1	18	c.18T>G	c.(16-18)GGT>GGG	p.G6G	TRIM54_uc002rjn.2_Silent_p.G6G	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	ring finger protein 30 isoform 2	6					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCACAGTGGGTTTCAAGCCGC	0.592												
SRD5A2	6716	broad.mit.edu	37	2	31805786	31805786	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:31805786G>A	uc002rnw.1	-	2	256	c.185C>T	c.(184-186)GCG>GTG	p.A62V		NM_000348	NP_000339	P31213	S5A2_HUMAN	3-oxo-5 alpha-steroid 4-dehydrogenase 2	62					androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity				0	Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	CGCGGGCACCGCGAAGGAAGG	0.687												
YIPF4	84272	broad.mit.edu	37	2	32526480	32526480	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:32526480A>G	uc002rok.2	+	5	780	c.513A>G	c.(511-513)ATA>ATG	p.I171M		NM_032312	NP_115688	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4	171	Helical; (Potential).					endoplasmic reticulum|integral to membrane	protein binding				0	Acute lymphoblastic leukemia(172;0.155)					TTGGAGTTATAGGATATTCAT	0.318												
BIRC6	57448	broad.mit.edu	37	2	32626574	32626574	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:32626574T>C	uc010ezu.2	+	8	1435	c.1301T>C	c.(1300-1302)GTA>GCA	p.V434A		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	434					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					CCAGCAATTGTACAACAGCTT	0.383												
HEATR5B	54497	broad.mit.edu	37	2	37255949	37255949	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:37255949C>T	uc002rpp.1	-	23	3572	c.3476G>A	c.(3475-3477)CGG>CAG	p.R1159Q		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1159							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				ATCTGTCTCCCGGTCTAGCAT	0.428												
DHX57	90957	broad.mit.edu	37	2	39053105	39053105	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:39053105G>A	uc002rrf.2	-	16	2997	c.2898C>T	c.(2896-2898)GGC>GGT	p.G966G	DHX57_uc002rrd.3_Silent_p.G350G|DHX57_uc002rre.2_Silent_p.G399G	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	966	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		all_hematologic(82;0.248)				ATGCAACACGGCCTGCTCGGC	0.428												
SLC8A1	6546	broad.mit.edu	37	2	40392055	40392055	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:40392055C>T	uc002rrx.2	-	7	2132	c.2108G>A	c.(2107-2109)CGC>CAC	p.R703H	uc002rrw.2_Intron|SLC8A1_uc002rry.2_Missense_Mutation_p.R698H|SLC8A1_uc002rrz.2_Missense_Mutation_p.R690H|SLC8A1_uc002rsa.2_Missense_Mutation_p.R667H|SLC8A1_uc002rsd.3_Missense_Mutation_p.R667H	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	703	Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CAGGATGGGGCGCCCCATTTC	0.512												
KCNG3	170850	broad.mit.edu	37	2	42720441	42720441	+	Silent	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:42720441C>A	uc002rsn.2	-	1	797	c.201G>T	c.(199-201)TCG>TCT	p.S67S	MTA3_uc002rso.1_5'Flank|KCNG3_uc002rsm.2_Silent_p.S67S	NM_133329	NP_579875	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G,	67	Cytoplasmic (Potential).					endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)	1						CGAAGGCCTCCGAGTGCCGGT	0.657												
THADA	63892	broad.mit.edu	37	2	43458106	43458106	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:43458106C>A	uc002rsw.3	-	38	6195	c.5843G>T	c.(5842-5844)AGA>ATA	p.R1948I	THADA_uc010far.2_Missense_Mutation_p.R1143I|THADA_uc002rsx.3_Missense_Mutation_p.R1948I|THADA_uc002rsy.3_RNA	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1948							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CGCTTCTGTTCTTGGAAGAGT	0.453												
PREPL	9581	broad.mit.edu	37	2	44548581	44548581	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:44548581T>C	uc002ruf.2	-	14	2133	c.2098A>G	c.(2098-2100)ACA>GCA	p.T700A	PREPL_uc002rug.2_Missense_Mutation_p.T634A|PREPL_uc002ruh.2_Missense_Mutation_p.T638A|PREPL_uc010fax.2_Missense_Mutation_p.T700A|PREPL_uc002rui.3_Missense_Mutation_p.T611A|PREPL_uc002ruj.1_Missense_Mutation_p.T611A|PREPL_uc002ruk.1_Missense_Mutation_p.T700A	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like isoform C	700					proteolysis	cytosol	serine-type endopeptidase activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATTTGGGCTGTAATCTAAAAG	0.348												
EPAS1	2034	broad.mit.edu	37	2	46596995	46596995	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:46596995A>C	uc002ruv.2	+	7	1297	c.809A>C	c.(808-810)GAG>GCG	p.E270A		NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	270	PAS 2.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TACCACCCTGAGGAGCTGCTT	0.488												
FBXO11	80204	broad.mit.edu	37	2	48046210	48046210	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:48046210T>C	uc010fbl.2	-	15	1667	c.1553A>G	c.(1552-1554)AAG>AGG	p.K518R	FBXO11_uc002rwe.2_Missense_Mutation_p.K518R|FBXO11_uc002rwf.2_Missense_Mutation_p.K518R|FBXO11_uc002rwg.1_Missense_Mutation_p.K518R|FBXO11_uc010fbk.2_Missense_Mutation_p.K26R	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	602	PbH1 10.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCCTTGTCCCTTTTCATGCTA	0.368												
BCL11A	53335	broad.mit.edu	37	2	60688143	60688143	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:60688143C>T	uc002sae.1	-	4	2132	c.1904G>A	c.(1903-1905)CGC>CAC	p.R635H	BCL11A_uc002sab.2_Missense_Mutation_p.R635H|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.R304H|BCL11A_uc010ypj.1_Missense_Mutation_p.R601H|BCL11A_uc002sad.1_Missense_Mutation_p.R483H|BCL11A_uc002saf.1_Missense_Mutation_p.R601H	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	635					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GAGCTTGATGCGCTTAGAGAA	0.682			T	IGH@	B-CLL							
PUS10	150962	broad.mit.edu	37	2	61175289	61175289	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:61175289C>T	uc010fci.2	-	16	1400	c.1340G>A	c.(1339-1341)CGC>CAC	p.R447H	PUS10_uc002sao.2_Missense_Mutation_p.R447H|PUS10_uc010ypk.1_Missense_Mutation_p.R224H	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	447	RNA binding thumb loop (Potential).				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			ovary(2)|large_intestine(1)|kidney(1)	4			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			GTGAAGGACGCGCAAAGGTGT	0.527												
GKN2	200504	broad.mit.edu	37	2	69173591	69173591	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:69173591G>A	uc002sfa.2	-	5	426	c.317C>T	c.(316-318)GCT>GTT	p.A106V	GKN2_uc002sfb.3_Missense_Mutation_p.A106V	NM_182536	NP_872342	Q86XP6	GKN2_HUMAN	trefoil factor interactions(z) 1 precursor	106	BRICHOS.					extracellular region					0						GTTGTCCAGAGCCTAGATCGG	0.378												
ASPRV1	151516	broad.mit.edu	37	2	70187970	70187970	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:70187970A>G	uc002sfz.3	-	1	1428	c.851T>C	c.(850-852)ATT>ACT	p.I284T		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1 precursor	284	Peptidase A2.|Extracellular (Potential).				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			ovary(1)	1						ATCAGTGCCAATGATGGCTTC	0.557												
ADD2	119	broad.mit.edu	37	2	70890743	70890743	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:70890743G>A	uc002sgz.2	-	16	2460	c.1995C>T	c.(1993-1995)GGC>GGT	p.G665G	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_3'UTR|ADD2_uc002sha.2_Silent_p.G359G|ADD2_uc002sgx.2_3'UTR	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	665					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3						TCTGGCTCAGGCCTTTGCTGA	0.607												
ALMS1	7840	broad.mit.edu	37	2	73762058	73762058	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:73762058G>A	uc002sje.1	+	14	10003	c.9892G>A	c.(9892-9894)GTT>ATT	p.V3298I	ALMS1_uc002sjf.1_Missense_Mutation_p.V3254I|ALMS1_uc002sjg.2_Missense_Mutation_p.V2684I|ALMS1_uc002sjh.1_Missense_Mutation_p.V2684I|ALMS1_uc010fev.1_Missense_Mutation_p.V113I	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3296					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						AGATACCACCGTTGAAAGCTC	0.343												
ACTG2	72	broad.mit.edu	37	2	74140773	74140773	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:74140773G>T	uc002sjw.2	+	6	735	c.613G>T	c.(613-615)GCT>TCT	p.A205S	ACTG2_uc010fey.2_Missense_Mutation_p.A205S|ACTG2_uc010yrn.1_Missense_Mutation_p.A162S	NM_001615	NP_001606	P63267	ACTH_HUMAN	actin, gamma 2 propeptide	205					muscle contraction	cytoskeleton|cytosol	ATP binding				0						TGTGACCACAGGTATCCAGCC	0.512												
HTRA2	27429	broad.mit.edu	37	2	74758134	74758134	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:74758134A>G	uc002smi.1	+	3	1410	c.808A>G	c.(808-810)ATC>GTC	p.I270V	AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Intron|HTRA2_uc002smk.1_Missense_Mutation_p.I270V|HTRA2_uc002sml.1_Missense_Mutation_p.I270V|HTRA2_uc002smm.1_Missense_Mutation_p.I11V|HTRA2_uc002smn.1_Missense_Mutation_p.I11V|HTRA2_uc010ffl.2_Missense_Mutation_p.I11V	NM_013247	NP_037379	O43464	HTRA2_HUMAN	HtrA serine peptidase 2 isoform 1 preproprotein	270	Serine protease.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			ovary(1)	1						GCAGAACACGATCACATCCGG	0.542												
C2orf3	6936	broad.mit.edu	37	2	75917175	75917175	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:75917175C>T	uc002sno.2	-	9	1389	c.1259G>A	c.(1258-1260)GGG>GAG	p.G420E	C2orf3_uc010ffs.2_5'UTR|C2orf3_uc002snn.2_Missense_Mutation_p.G251E|C2orf3_uc010fft.2_Missense_Mutation_p.G95E	NM_003203	NP_003194	P16383	GCF_HUMAN	hypothetical protein LOC6936	420					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						gttacaattcccagaaagcaC	0.134												
C2orf3	6936	broad.mit.edu	37	2	75921541	75921541	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:75921541T>C	uc002sno.2	-	6	976	c.846A>G	c.(844-846)CTA>CTG	p.L282L	C2orf3_uc010ffs.2_5'UTR|C2orf3_uc002snn.2_Silent_p.L113L|C2orf3_uc010fft.2_5'UTR	NM_003203	NP_003194	P16383	GCF_HUMAN	hypothetical protein LOC6936	282	Potential.				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						GAGTTTCCTGTAGTAATGTTA	0.308												
CTNNA2	1496	broad.mit.edu	37	2	80085151	80085151	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:80085151G>A	uc010ysh.1	+	3	316	c.311G>A	c.(310-312)CGG>CAG	p.R104Q	CTNNA2_uc010yse.1_Missense_Mutation_p.R104Q|CTNNA2_uc010ysf.1_Missense_Mutation_p.R104Q|CTNNA2_uc010ysg.1_Missense_Mutation_p.R104Q	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	104					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						GAGACGATGCGGATCGCCTCC	0.562												
SUCLG1	8802	broad.mit.edu	37	2	84658722	84658722	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:84658722G>A	uc002son.2	-	7	928	c.735C>T	c.(733-735)AAC>AAT	p.N245N		NM_003849	NP_003840	P53597	SUCA_HUMAN	succinate-CoA ligase, GDP-forming alpha subunit	245					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity				0					Succinic acid(DB00139)	TGGCAGAATCGTTCAAAAAGA	0.353												
MRPL35	51318	broad.mit.edu	37	2	86433347	86433347	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:86433347T>C	uc002srg.3	+	2	220	c.162T>C	c.(160-162)GTT>GTC	p.V54V	MRPL35_uc002srf.3_Silent_p.V54V	NM_016622	NP_057706	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35 isoform a	54					translation	mitochondrial ribosome	structural constituent of ribosome				0						CACCAGTTGTTTCCTCCACTC	0.418												
RMND5A	64795	broad.mit.edu	37	2	87000484	87000484	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:87000484T>C	uc010ytm.1	+	9	1503	c.1126T>C	c.(1126-1128)TAC>CAC	p.Y376H	RMND5A_uc002srs.3_Intron|RMND5A_uc002srr.2_Missense_Mutation_p.Y376H	NM_022780	NP_073617	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog	376										ovary(1)|skin(1)	2						AAAATGTCCCTACTGTCCAAT	0.353												
CD8A	925	broad.mit.edu	37	2	87017507	87017507	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:87017507G>A	uc002srt.2	-	2	1236	c.347C>T	c.(346-348)TCG>TTG	p.S116L	RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Missense_Mutation_p.S116L|CD8A_uc010ytn.1_Missense_Mutation_p.S157L|CD8A_uc002sru.2_Missense_Mutation_p.S116L	NM_001768	NP_001759	P01732	CD8A_HUMAN	CD8 antigen alpha polypeptide isoform 1	116	Ig-like V-type.|Extracellular (Potential).				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			ovary(1)	1						GCTCAGGGCCGAGCAGAAATA	0.652												
SMYD1	150572	broad.mit.edu	37	2	88409944	88409944	+	Silent	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:88409944C>A	uc002ssr.2	+	10	1388	c.1386C>A	c.(1384-1386)CGC>CGA	p.R462R	SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_Silent_p.R158R	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						ACAAGATGCGCGAGGCTGCCC	0.567												
EIF2AK3	9451	broad.mit.edu	37	2	88857427	88857427	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:88857427G>T	uc002stc.3	-	17	3380	c.3178C>A	c.(3178-3180)CCA>ACA	p.P1060T		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	1060	Cytoplasmic (Potential).|Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						ATGGGGGATGGAGAGAGCATG	0.403												
ZAP70	7535	broad.mit.edu	37	2	98351887	98351887	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:98351887C>T	uc002syd.1	+	10	1464	c.1257C>T	c.(1255-1257)GGC>GGT	p.G419G	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Silent_p.G309G|ZAP70_uc002syf.1_Silent_p.G112G	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	419	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						TGGCTGGGGGCGGGCCGCTGC	0.682												
TSGA10	80705	broad.mit.edu	37	2	99688331	99688331	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:99688331A>G	uc002szg.3	-	12	1573	c.945T>C	c.(943-945)TGT>TGC	p.C315C	TSGA10_uc002szh.3_Silent_p.C315C|TSGA10_uc002szi.3_Silent_p.C315C|TSGA10_uc010fin.1_Silent_p.C315C|TSGA10_uc010yvn.1_Missense_Mutation_p.Y297H	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	testis specific, 10	315					spermatogenesis	cytoplasm|nuclear membrane				ovary(1)|central_nervous_system(1)	2						GGGCCTCAGTACACTGTCTAT	0.418												
NPAS2	4862	broad.mit.edu	37	2	101587538	101587538	+	Splice_Site	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:101587538T>C	uc002tap.1	+	12	1426	c.1140_splice	c.e12+2	p.K380_splice	NPAS2_uc010yvt.1_Splice_Site_p.K445_splice	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2						central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(3)|upper_aerodigestive_tract(1)	4						GCACTAAAGGTACGCCCATCC	0.532												
NPAS2	4862	broad.mit.edu	37	2	101591353	101591353	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:101591353C>T	uc002tap.1	+	13	1515	c.1229C>T	c.(1228-1230)GCG>GTG	p.A410V	NPAS2_uc010yvt.1_Missense_Mutation_p.A475V|NPAS2_uc010fit.1_5'UTR	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	410					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(3)|upper_aerodigestive_tract(1)	4						TCGCCATCGGCGTCCTCAAGA	0.557												
MRPS9	64965	broad.mit.edu	37	2	105709992	105709992	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:105709992A>C	uc002tcn.3	+	9	893	c.825A>C	c.(823-825)AAA>AAC	p.K275N		NM_182640	NP_872578	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9 precursor	275					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome				0						TTGAAGGTAAAAGAAAGACTG	0.318												
MALL	7851	broad.mit.edu	37	2	110849314	110849314	+	Missense_Mutation	SNP	C	C	T	rs141817647		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:110849314C>T	uc002tfk.2	-	2	913	c.139G>A	c.(139-141)GCC>ACC	p.A47T	MALL_uc010fju.2_Intron	NM_005434	NP_005425	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	47	MARVEL.				cholesterol homeostasis	clathrin-coated vesicle|Golgi membrane|integral to membrane|membrane raft|plasma membrane	protein binding			ovary(1)|skin(1)	2				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		ATGTGGGTGGCGGCTACCATG	0.468												
MERTK	10461	broad.mit.edu	37	2	112779029	112779029	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:112779029G>A	uc002thk.1	+	17	2342	c.2220G>A	c.(2218-2220)GCG>GCA	p.A740A	MERTK_uc002thl.1_Silent_p.A564A	NM_006343	NP_006334	Q12866	MERTK_HUMAN	MER receptor tyrosine kinase precursor	740	Protein kinase.|Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						TCTGTGTTGCGGACTTCGGCC	0.478												
IL1F10	84639	broad.mit.edu	37	2	113831989	113831989	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:113831989C>T	uc002tiu.2	+	3	191	c.116C>T	c.(115-117)GCA>GTA	p.A39V	IL1F10_uc002tiv.2_Missense_Mutation_p.A39V|IL1F10_uc002tiw.2_5'Flank	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10	39						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			ovary(1)	1						AACTGCTGTGCAGGTGAGCTT	0.552												
STEAP3	55240	broad.mit.edu	37	2	120012379	120012379	+	Silent	SNP	G	G	A	rs144510346		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:120012379G>A	uc002tlp.2	+	5	1297	c.1140G>A	c.(1138-1140)CCG>CCA	p.P380P	STEAP3_uc002tlq.2_Silent_p.P390P|STEAP3_uc002tlr.2_Silent_p.P380P|STEAP3_uc010fle.2_Silent_p.P380P	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	380	Ferric oxidoreductase.|Cytoplasmic (Potential).				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			central_nervous_system(2)|skin(1)	3						CCTCACTGCCGTCCATTGCAA	0.612												
ERCC3	2071	broad.mit.edu	37	2	128030479	128030479	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:128030479T>A	uc002toh.1	-	11	1884	c.1789A>T	c.(1789-1791)AAG>TAG	p.K597*	ERCC3_uc002toe.1_Nonsense_Mutation_p.K352*|ERCC3_uc002tof.1_Nonsense_Mutation_p.K533*|ERCC3_uc002tog.1_Nonsense_Mutation_p.K533*	NM_000122	NP_000113	P19447	ERCC3_HUMAN	excision repair cross-complementing rodent	597	Helicase C-terminal.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			ovary(2)|lung(2)|breast(2)|kidney(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GGGTTGTGCTTGAAATTCTGG	0.488			Mis|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
WDR33	55339	broad.mit.edu	37	2	128480887	128480887	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:128480887T>C	uc002tpg.1	-	12	1414	c.1231A>G	c.(1231-1233)ATG>GTG	p.M411V		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	411	WD 7.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CGATCTCGCATTTTATCACCT	0.373												
SAP130	79595	broad.mit.edu	37	2	128707456	128707456	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:128707456G>A	uc002tpp.2	-	17	2889	c.2757C>T	c.(2755-2757)GAC>GAT	p.D919D	SAP130_uc002tpn.2_Silent_p.D679D|SAP130_uc002tpo.2_Silent_p.D699D|SAP130_uc010fmd.2_Silent_p.D954D	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	919	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGACCCGGACGTCACTGTACC	0.423												
SAP130	79595	broad.mit.edu	37	2	128707900	128707900	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:128707900T>C	uc002tpp.2	-	16	2610	c.2478A>G	c.(2476-2478)CTA>CTG	p.L826L	SAP130_uc002tpn.2_Silent_p.L586L|SAP130_uc002tpo.2_Silent_p.L606L|SAP130_uc010fmd.2_Silent_p.L861L	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	826	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CACCAGGTGGTAGGTCACTTG	0.488												
CCDC74A	90557	broad.mit.edu	37	2	132285715	132285715	+	Nonsense_Mutation	SNP	C	C	T	rs146378866		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:132285715C>T	uc002tta.2	+	1	224	c.172C>T	c.(172-174)CAG>TAG	p.Q58*	CCDC74A_uc010fnb.1_Nonsense_Mutation_p.Q58*|CCDC74A_uc002ttb.2_Nonsense_Mutation_p.Q58*	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	58	Potential.									skin(1)	1						GAAAAGCCTGCAGTTCCTGCA	0.647												
NCKAP5	344148	broad.mit.edu	37	2	133531439	133531439	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:133531439T>A	uc002ttp.2	-	16	5452	c.5078A>T	c.(5077-5079)GAG>GTG	p.E1693V	NCKAP5_uc002ttq.2_Missense_Mutation_p.E374V	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1693							protein binding				0						GTCTTCATCCTCTTGCAAGTT	0.333												
NCKAP5	344148	broad.mit.edu	37	2	133542288	133542288	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:133542288T>A	uc002ttp.2	-	14	2470	c.2096A>T	c.(2095-2097)AAT>ATT	p.N699I	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	699							protein binding				0						AGGAGTTGAATTGATGGAAAT	0.453												
R3HDM1	23518	broad.mit.edu	37	2	136393667	136393667	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:136393667C>T	uc002tuo.2	+	11	1187	c.817C>T	c.(817-819)CGT>TGT	p.R273C	R3HDM1_uc010fni.2_Missense_Mutation_p.R271C|R3HDM1_uc002tup.2_Missense_Mutation_p.R217C|R3HDM1_uc010zbh.1_Missense_Mutation_p.R105C	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	273							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)		GATGAGAATACGTTTGAAAGA	0.353												
THSD7B	80731	broad.mit.edu	37	2	138378192	138378192	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:138378192A>C	uc002tva.1	+	19	3608	c.3608A>C	c.(3607-3609)AAG>ACG	p.K1203T	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		AATTTGGAGAAGCCCCAGAGA	0.458												
ZEB2	9839	broad.mit.edu	37	2	145147143	145147143	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:145147143T>C	uc002tvu.2	-	10	4000	c.3520A>G	c.(3520-3522)ACG>GCG	p.T1174A	ZEB2_uc002tvv.2_Missense_Mutation_p.T1168A|ZEB2_uc010zbm.1_Missense_Mutation_p.T1145A|ZEB2_uc010fnp.2_Intron	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	1174	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCGGGATCCGTATCCATACTT	0.498												
ZEB2	9839	broad.mit.edu	37	2	145157490	145157490	+	Missense_Mutation	SNP	C	C	T	rs141793065	by1000genomes	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:145157490C>T	uc002tvu.2	-	8	1744	c.1264G>A	c.(1264-1266)GCC>ACC	p.A422T	ZEB2_uc002tvv.2_Missense_Mutation_p.A416T|ZEB2_uc010zbm.1_Missense_Mutation_p.A393T|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.A451T	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	422						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGGCTGGTGGCTCCAAGCCCA	0.453												
NEB	4703	broad.mit.edu	37	2	152410392	152410392	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:152410392C>T	uc010fnx.2	-	98	14664	c.14473G>A	c.(14473-14475)GAC>AAC	p.D4825N	NEB_uc002txr.2_Missense_Mutation_p.D1248N	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	4825	Nebulin 132.				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)		ACTTGCAAGTCGGGGTGGCAA	0.547												
STAM2	10254	broad.mit.edu	37	2	153004561	153004561	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:153004561C>G	uc002tyc.3	-	4	627	c.277G>C	c.(277-279)GTA>CTA	p.V93L	STAM2_uc010foa.1_Missense_Mutation_p.V93L|STAM2_uc002tyd.2_Missense_Mutation_p.V93L	NM_005843	NP_005834	O75886	STAM2_HUMAN	signal transducing adaptor molecule 2	93	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.22)		ACAGCACGTACTTCTGTTGCA	0.294												
NR4A2	4929	broad.mit.edu	37	2	157182788	157182788	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:157182788T>A	uc002tyz.3	-	7	1836	c.1414A>T	c.(1414-1416)AGG>TGG	p.R472W	NR4A2_uc002tyx.3_Missense_Mutation_p.R409W|NR4A2_uc010zcf.1_Missense_Mutation_p.R472W|NR4A2_uc010zcg.1_Intron	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	472					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						CATTGCAACCTGTGCAAGACC	0.453												
GALNT5	11227	broad.mit.edu	37	2	158115241	158115241	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:158115241T>C	uc002tzg.2	+	1	902	c.647T>C	c.(646-648)TTG>TCG	p.L216S	GALNT5_uc010zci.1_RNA	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	N-acetylgalactosaminyltransferase 5	216	Lumenal (Potential).				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(3)|skin(1)	4						GAAAGGGACTTGAATGTGACC	0.493												
GALNT5	11227	broad.mit.edu	37	2	158152294	158152294	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:158152294A>G	uc002tzg.2	+	4	2116	c.1861A>G	c.(1861-1863)AAT>GAT	p.N621D	GALNT5_uc010zci.1_RNA	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	N-acetylgalactosaminyltransferase 5	621	Lumenal (Potential).				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(3)|skin(1)	4						CGAAGTCATCAATGATAAGGA	0.368												
TANC1	85461	broad.mit.edu	37	2	160086950	160086950	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:160086950C>T	uc002uag.2	+	27	5287	c.5013C>T	c.(5011-5013)AGC>AGT	p.S1671S	TANC1_uc010zcm.1_3'UTR|TANC1_uc010fon.2_Silent_p.S515S	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1671	Ser-rich.					cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						CTCCATCCAGCAGCATAAAGA	0.527												
BAZ2B	29994	broad.mit.edu	37	2	160295518	160295518	+	Splice_Site	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:160295518A>G	uc002uao.2	-	7	1252	c.900_splice	c.e7+1	p.Q300_splice	BAZ2B_uc002uap.2_Splice_Site_p.Q298_splice|BAZ2B_uc002uas.1_Splice_Site_p.Q237_splice|BAZ2B_uc002uau.1_Splice_Site_p.Q298_splice|BAZ2B_uc002uaq.1_Splice_Site_p.Q228_splice|BAZ2B_uc002uat.3_Missense_Mutation_p.V238A|BAZ2B_uc010fop.1_Splice_Site_p.Q298_splice	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						AAAAAATTATACCTGGTTGTT	0.264												
SLC4A10	57282	broad.mit.edu	37	2	162719492	162719492	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:162719492T>G	uc002ubx.3	+	6	870	c.686T>G	c.(685-687)CTC>CGC	p.L229R	SLC4A10_uc010fpa.1_Missense_Mutation_p.L241R|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.L229R|SLC4A10_uc010zcs.1_Missense_Mutation_p.L240R	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	229	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						CAGAAAAAACTCACCAACAGG	0.403												
SCN3A	6328	broad.mit.edu	37	2	165984367	165984367	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:165984367T>C	uc002ucx.2	-	18	3659	c.3167A>G	c.(3166-3168)GAA>GGA	p.E1056G	SCN3A_uc002ucy.2_Missense_Mutation_p.E1007G|SCN3A_uc002ucz.2_Missense_Mutation_p.E1007G|SCN3A_uc002uda.1_Missense_Mutation_p.E876G|SCN3A_uc002udb.1_Missense_Mutation_p.E876G	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1056						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	TTTGCTTATTTCAATTCCAGT	0.368												
XIRP2	129446	broad.mit.edu	37	2	168100923	168100923	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:168100923A>C	uc002udx.2	+	8	3039	c.3021A>C	c.(3019-3021)GAA>GAC	p.E1007D	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E832D|XIRP2_uc010fpq.2_Missense_Mutation_p.E785D|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	832					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TCCAGCAAGAAGAAATCGTAA	0.378												
GORASP2	26003	broad.mit.edu	37	2	171806085	171806085	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:171806085G>A	uc002ugk.2	+	3	321	c.181G>A	c.(181-183)GCA>ACA	p.A61T	GORASP2_uc002ugj.2_5'UTR|GORASP2_uc010zdl.1_Missense_Mutation_p.A73T|GORASP2_uc010zdm.1_Missense_Mutation_p.A17T|GORASP2_uc002ugl.2_5'UTR	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2	61	PDZ.					Golgi membrane				breast(1)|central_nervous_system(1)	2						TCTGCTGAAAGCAAACGTTGA	0.398												
DLX1	1745	broad.mit.edu	37	2	172952935	172952935	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:172952935T>C	uc002uhl.2	+	3	916	c.718T>C	c.(718-720)TGG>CGG	p.W240R	DLX1_uc002uhm.2_3'UTR	NM_178120	NP_835221	P56177	DLX1_HUMAN	distal-less homeobox 1 isoform 1	240						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CTACACATCGTGGTACCCTTC	0.632												
CHRNA1	1134	broad.mit.edu	37	2	175613330	175613330	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:175613330T>G	uc002ujd.2	-	9	1373	c.1295A>C	c.(1294-1296)AAG>ACG	p.K432T	uc002uiw.2_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.K407T	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	nicotinic cholinergic receptor alpha 1 isoform a	432	Cytoplasmic.				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(2)|central_nervous_system(1)|skin(1)	4						CTGGTCTGACTTCATGGTCTC	0.378											OREG0015079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HOXD13	3239	broad.mit.edu	37	2	176957879	176957879	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:176957879G>A	uc002ukf.1	+	1	348	c.261G>A	c.(259-261)TCG>TCA	p.S87S		NM_000523	NP_000514	P35453	HXD13_HUMAN	homeobox D13	87	Poly-Ser.				skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		GCTCTTCCTCGTCGTCGTCCT	0.567			T	NUP98	AML*							
TTC30B	150737	broad.mit.edu	37	2	178415909	178415909	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:178415909T>C	uc002uln.2	-	1	1616	c.1583A>G	c.(1582-1584)GAA>GGA	p.E528G	TTC30B_uc010zfc.1_Missense_Mutation_p.E300G	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	528	Potential.				cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GAGCTGCTCTTCCTCCTTTTC	0.378												
RBM45	129831	broad.mit.edu	37	2	178985972	178985972	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:178985972C>T	uc002ulv.2	+	5	831	c.739C>T	c.(739-741)CGC>TGC	p.R247C		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	249					cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			AATCTCCAAACGCTTGTCAGT	0.358												
TTN	7273	broad.mit.edu	37	2	179396497	179396497	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:179396497G>A	uc010zfg.1	-	307	97365	c.97141C>T	c.(97141-97143)CGC>TGC	p.R32381C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R26076C|TTN_uc010zfi.1_Missense_Mutation_p.R26009C|TTN_uc010zfj.1_Missense_Mutation_p.R25884C|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33308							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)			CTGTGCGAGCGCATTCTCAGT	0.443												
TTN	7273	broad.mit.edu	37	2	179403902	179403902	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:179403902C>T	uc010zfg.1	-	302	91280	c.91056G>A	c.(91054-91056)CGG>CGA	p.R30352R	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.R24047R|TTN_uc010zfi.1_Silent_p.R23980R|TTN_uc010zfj.1_Silent_p.R23855R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31279							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)			CATCTTTGGGCCGGGACCAGG	0.473												
TTN	7273	broad.mit.edu	37	2	179436451	179436451	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:179436451A>C	uc010zfg.1	-	275	66928	c.66704T>G	c.(66703-66705)GTT>GGT	p.V22235G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V15930G|TTN_uc010zfi.1_Missense_Mutation_p.V15863G|TTN_uc010zfj.1_Missense_Mutation_p.V15738G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23162							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)			AAGAACGATAACATTAAGGGT	0.438												
TTN	7273	broad.mit.edu	37	2	179436480	179436480	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:179436480T>C	uc010zfg.1	-	275	66899	c.66675A>G	c.(66673-66675)TCA>TCG	p.S22225S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.S15920S|TTN_uc010zfi.1_Silent_p.S15853S|TTN_uc010zfj.1_Silent_p.S15728S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23152							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)			CTTCACCAGCTGAGTTAGTCA	0.413												
TTN	7273	broad.mit.edu	37	2	179462439	179462439	+	Missense_Mutation	SNP	C	C	T	rs142841000	by1000genomes	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:179462439C>T	uc010zfg.1	-	243	49890	c.49666G>A	c.(49666-49668)GTC>ATC	p.V16556I	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V10251I|TTN_uc010zfi.1_Missense_Mutation_p.V10184I|TTN_uc010zfj.1_Missense_Mutation_p.V10059I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17483							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)			TTCCAGGTGACGGTTGGAGGA	0.493												
TTN	7273	broad.mit.edu	37	2	179484765	179484765	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:179484765T>C	uc010zfg.1	-	198	38899	c.38675A>G	c.(38674-38676)TAT>TGT	p.Y12892C	TTN_uc010zfh.1_Missense_Mutation_p.Y6587C|TTN_uc010zfi.1_Missense_Mutation_p.Y6520C|TTN_uc010zfj.1_Missense_Mutation_p.Y6395C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13819							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)			CCCGCAAGCATATTCACACTC	0.333												
TTN	7273	broad.mit.edu	37	2	179485466	179485466	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:179485466T>C	uc010zfg.1	-	196	38391	c.38167A>G	c.(38167-38169)AGT>GGT	p.S12723G	TTN_uc010zfh.1_Missense_Mutation_p.S6418G|TTN_uc010zfi.1_Missense_Mutation_p.S6351G|TTN_uc010zfj.1_Missense_Mutation_p.S6226G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13650							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)			TTGGCTGCACTTTTAACATTT	0.313												
TTN	7273	broad.mit.edu	37	2	179604130	179604130	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:179604130T>C	uc010zfh.1	-	46	13541	c.13317A>G	c.(13315-13317)ACA>ACG	p.T4439T	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Silent_p.T4372T|TTN_uc010zfj.1_Silent_p.T4247T|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							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)			CCACTAAAGGTGTATGTATCA	0.423												
TTN	7273	broad.mit.edu	37	2	179640650	179640650	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:179640650T>C	uc010zfg.1	-	28	6165	c.5941A>G	c.(5941-5943)AGG>GGG	p.R1981G	TTN_uc010zfh.1_Missense_Mutation_p.R1935G|TTN_uc010zfi.1_Missense_Mutation_p.R1935G|TTN_uc010zfj.1_Missense_Mutation_p.R1935G|TTN_uc002unb.2_Missense_Mutation_p.R1981G|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1981							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)			CTTTCAGCCCTTTTCAACTTC	0.423												
DNAJC10	54431	broad.mit.edu	37	2	183601076	183601076	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:183601076G>C	uc002uow.1	+	11	1365	c.950G>C	c.(949-951)GGA>GCA	p.G317A	DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Intron|DNAJC10_uc010fro.1_Intron	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	317					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			ovary(1)|large_intestine(1)|breast(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTTCCTCCTGGAGCCACTTTA	0.328												
MFSD6	54842	broad.mit.edu	37	2	191362251	191362251	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:191362251G>A	uc002urz.2	+	7	2302	c.1978G>A	c.(1978-1980)GAT>AAT	p.D660N	MFSD6_uc010zge.1_Missense_Mutation_p.D122N	NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing	660					transmembrane transport	integral to membrane				ovary(2)	2						ACAGACAGAAGATGTCATGCC	0.488												
GLS	2744	broad.mit.edu	37	2	191819482	191819482	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:191819482T>C	uc002usf.2	+	17	2055	c.1791T>C	c.(1789-1791)GGT>GGC	p.G597G	GLS_uc002ush.2_Silent_p.G258G|GLS_uc010zgi.1_Missense_Mutation_p.S200P|GLS_uc010zgj.1_Silent_p.G102G	NM_014905	NP_055720	O94925	GLSK_HUMAN	glutaminase precursor	597	ANK.				cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			ovary(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACGGTATAGGTCATGTTGAAG	0.373												
ANKRD44	91526	broad.mit.edu	37	2	197990131	197990131	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:197990131C>T	uc002uuc.2	-	6	691	c.524G>A	c.(523-525)CGT>CAT	p.R175H	ANKRD44_uc002utz.3_5'Flank|ANKRD44_uc002uua.1_Missense_Mutation_p.R150H|ANKRD44_uc002uub.2_Missense_Mutation_p.R175H|ANKRD44_uc010zgw.1_Missense_Mutation_p.R103H	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	175	ANK 6.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTGCAGAGCACGCCGGTCCTT	0.423												
SGOL2	151246	broad.mit.edu	37	2	201438699	201438699	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:201438699A>G	uc002uvw.2	+	7	3743	c.3630A>G	c.(3628-3630)ATA>ATG	p.I1210M	SGOL2_uc010zhd.1_Missense_Mutation_p.I1210M|SGOL2_uc010zhe.1_Missense_Mutation_p.I1210M	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	shugoshin-like 2 isoform 1	1210					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			ovary(2)|skin(2)	4						AATCAGGAATAGGTAGGTTAA	0.343												
NRP2	8828	broad.mit.edu	37	2	206592625	206592625	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:206592625G>A	uc002vaw.2	+	7	1792	c.1001G>A	c.(1000-1002)CGC>CAC	p.R334H	NRP2_uc002vat.2_Missense_Mutation_p.R334H|NRP2_uc002vau.2_Missense_Mutation_p.R334H|NRP2_uc002vav.2_Missense_Mutation_p.R334H|NRP2_uc002vax.2_Missense_Mutation_p.R334H|NRP2_uc002vay.2_Missense_Mutation_p.R334H|NRP2_uc010fud.2_Missense_Mutation_p.R334H	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	334	Extracellular (Potential).|F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4						GTGGACCTGCGCTTTTTAACC	0.483												
C2orf80	389073	broad.mit.edu	37	2	209049730	209049730	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:209049730C>T	uc002vcr.2	-	3	240	c.68G>A	c.(67-69)CGG>CAG	p.R23Q		NM_001099334	NP_001092804	Q0P641	CB080_HUMAN	hypothetical protein LOC389073	23										skin(1)	1						TTCATTTTCCCGAAGTCTGAT	0.413												
LANCL1	10314	broad.mit.edu	37	2	211336712	211336712	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:211336712C>T	uc010zjh.1	-	3	245	c.170G>A	c.(169-171)CGG>CAG	p.R57Q	LANCL1_uc002ved.2_Missense_Mutation_p.R57Q|LANCL1_uc010fuq.2_Missense_Mutation_p.R57Q	NM_001136574	NP_001130046	O43813	LANC1_HUMAN	lanthionine synthetase C-like protein 1	57						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding				0				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		GGTGCCATCCCGAGGGTCTGC	0.498												
FN1	2335	broad.mit.edu	37	2	216272919	216272919	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:216272919C>T	uc002vfa.2	-	17	2696	c.2430G>A	c.(2428-2430)GCG>GCA	p.A810A	FN1_uc002vfb.2_Silent_p.A810A|FN1_uc002vfc.2_Silent_p.A810A|FN1_uc002vfd.2_Silent_p.A810A|FN1_uc002vfe.2_Silent_p.A810A|FN1_uc002vff.2_Silent_p.A810A|FN1_uc002vfg.2_Silent_p.A810A|FN1_uc002vfh.2_Silent_p.A810A|FN1_uc002vfi.2_Silent_p.A810A|FN1_uc002vfj.2_Silent_p.A810A	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	810					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGCATCAGGCGCTAAGAAAG	0.483												
FN1	2335	broad.mit.edu	37	2	216288950	216288950	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:216288950G>A	uc002vfa.2	-	8	1401	c.1135C>T	c.(1135-1137)CGA>TGA	p.R379*	FN1_uc002vfb.2_Nonsense_Mutation_p.R379*|FN1_uc002vfc.2_Nonsense_Mutation_p.R379*|FN1_uc002vfd.2_Nonsense_Mutation_p.R379*|FN1_uc002vfe.2_Nonsense_Mutation_p.R379*|FN1_uc002vff.2_Nonsense_Mutation_p.R379*|FN1_uc002vfg.2_Nonsense_Mutation_p.R379*|FN1_uc002vfh.2_Nonsense_Mutation_p.R379*|FN1_uc002vfi.2_Nonsense_Mutation_p.R379*|FN1_uc002vfj.2_Nonsense_Mutation_p.R379*|FN1_uc002vfl.2_Nonsense_Mutation_p.R379*	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	379	Fibronectin type-II 1.|Collagen-binding.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCGTCCTGTCGCCCTTCTGTG	0.512												
ACCN4	55515	broad.mit.edu	37	2	220401863	220401863	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:220401863C>T	uc002vma.2	+	6	1643	c.1629C>T	c.(1627-1629)GGC>GGT	p.G543G	ACCN4_uc002vlz.2_Silent_p.G562G|ACCN4_uc002vmb.2_Silent_p.G216G	NM_182847	NP_878267	Q96FT7	ACCN4_HUMAN	amiloride-sensitive cation channel 4 isoform 2	543	Extracellular (Potential).					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity			ovary(2)	2		Renal(207;0.0183)		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)		CAGCCTATGGCCTGTCAGCCC	0.622												
SERPINE2	5270	broad.mit.edu	37	2	224866464	224866464	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:224866464C>T	uc002vnu.2	-	2	397	c.154G>A	c.(154-156)GTG>ATG	p.V52M	SERPINE2_uc002vnt.2_Missense_Mutation_p.V52M|SERPINE2_uc010zlr.1_Missense_Mutation_p.V64M|SERPINE2_uc002vnv.2_Missense_Mutation_p.V52M	NM_006216	NP_006207	P07093	GDN_HUMAN	plasminogen activator inhibitor type 1, member 2	52					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|ovary(1)|central_nervous_system(1)	4		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GGAGAGATCACGATGTTGTCA	0.567												
DOCK10	55619	broad.mit.edu	37	2	225729333	225729333	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:225729333T>G	uc010fwz.1	-	13	1778	c.1539A>C	c.(1537-1539)AAA>AAC	p.K513N	DOCK10_uc002vob.2_Missense_Mutation_p.K507N|DOCK10_uc002vod.1_Missense_Mutation_p.K513N	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	513							GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CCATCAAGACTTTTTCGATTT	0.363												
DNER	92737	broad.mit.edu	37	2	230312192	230312192	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:230312192G>A	uc002vpv.2	-	8	1473	c.1326C>T	c.(1324-1326)AAC>AAT	p.N442N	DNER_uc010zly.1_Silent_p.N170N	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	442	Extracellular (Potential).|EGF-like 6.				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)		AGCAGGTGCCGTTGTTCTGGC	0.532												
C2orf57	165100	broad.mit.edu	37	2	232457920	232457920	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:232457920A>G	uc002vrz.2	+	1	309	c.258A>G	c.(256-258)ACA>ACG	p.T86T		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	hypothetical protein LOC165100	86										ovary(1)	1		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		GAAAAATCACACCTCTGCTTC	0.527												
CHRNG	1146	broad.mit.edu	37	2	233408082	233408082	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:233408082G>A	uc002vsx.1	+	8	924	c.903G>A	c.(901-903)GCG>GCA	p.A301A	CHRNG_uc010fye.1_Silent_p.A249A	NM_005199	NP_005190	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma	301					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity				0		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CCTCCCAGGCGGTGCCACTCA	0.592												
NGEF	25791	broad.mit.edu	37	2	233748147	233748147	+	Missense_Mutation	SNP	G	G	A	rs141871026	by1000genomes	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:233748147G>A	uc002vts.2	-	12	1879	c.1631C>T	c.(1630-1632)CCG>CTG	p.P544L	NGEF_uc010zmm.1_Missense_Mutation_p.P267L|NGEF_uc010fyg.1_Missense_Mutation_p.P452L	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	544	PH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)|skin(1)	7		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CAGTCCCCGCGGAGCTGAGTC	0.652												
NGEF	25791	broad.mit.edu	37	2	233759467	233759467	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:233759467G>A	uc002vts.2	-	6	1236	c.988C>T	c.(988-990)CGG>TGG	p.R330W	NGEF_uc010zmm.1_Missense_Mutation_p.R53W|NGEF_uc010fyg.1_Missense_Mutation_p.R238W|NGEF_uc002vtt.2_Missense_Mutation_p.R238W	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	330	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)|skin(1)	7		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CGTCCTCACCGCTCACTGACA	0.597												
UGT1A1	54658	broad.mit.edu	37	2	234668959	234668959	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:234668959G>A	uc002vvb.2	+	1	41	c.26G>A	c.(25-27)CGC>CAC	p.R9H	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Missense_Mutation_p.R9H	NM_000463	NP_000454	P22309	UD11_HUMAN	UDP glycosyltransferase 1 family, polypeptide A1	9					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			central_nervous_system(1)|skin(1)	2		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CAGGGCGGACGCCCACTTGTC	0.567											OREG0003837	type=REGULATORY REGION|Gene=UGT1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
HJURP	55355	broad.mit.edu	37	2	234749838	234749838	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:234749838T>C	uc002vvg.2	-	8	1654	c.1588A>G	c.(1588-1590)ACA>GCA	p.T530A	HJURP_uc010znd.1_Missense_Mutation_p.T469A|HJURP_uc010zne.1_Missense_Mutation_p.T438A	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	530					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			ovary(1)	1		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		GCGCTGTGTGTGGGGTTGGTC	0.473												
ANKMY1	51281	broad.mit.edu	37	2	241439944	241439944	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:241439944C>A	uc002vyz.1	-	13	2527	c.2298G>T	c.(2296-2298)AAG>AAT	p.K766N	ANKMY1_uc002vza.1_Missense_Mutation_p.K542N|ANKMY1_uc010fzd.1_Missense_Mutation_p.K855N|ANKMY1_uc002vzb.1_Missense_Mutation_p.K527N|ANKMY1_uc002vzc.1_Missense_Mutation_p.K545N|ANKMY1_uc002vzd.1_Missense_Mutation_p.K589N	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	766	ANK 7.						zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GCATTACAGGCTTCAGGATGT	0.567												
PASK	23178	broad.mit.edu	37	2	242076435	242076435	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:242076435G>A	uc002wao.1	-	7	1213	c.1121C>T	c.(1120-1122)ACG>ATG	p.T374M	PASK_uc010zol.1_Missense_Mutation_p.T188M|PASK_uc010zom.1_Missense_Mutation_p.T339M|PASK_uc010fzl.1_Missense_Mutation_p.T374M|PASK_uc010zon.1_Missense_Mutation_p.T155M|PASK_uc002wap.2_5'Flank|PASK_uc002waq.2_Missense_Mutation_p.T374M	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	374	PAS 2.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CAGGAGCTCCGTCTTTCCGTA	0.642												
THAP4	51078	broad.mit.edu	37	2	242524055	242524055	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:242524055T>C	uc002wbt.2	-	6	1923	c.1700A>G	c.(1699-1701)CAT>CGT	p.H567R	THAP4_uc002wbs.2_Missense_Mutation_p.H155R	NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	THAP domain containing 4 isoform 1	567		Iron (heme axial ligand).					DNA binding|metal ion binding				0		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GACGTGAAGATGCTGAGTCAT	0.552												
GAL3ST2	64090	broad.mit.edu	37	2	242741320	242741320	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:242741320G>A	uc002wcj.1	+	3	375	c.244G>A	c.(244-246)GTG>ATG	p.V82M		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	82	Lumenal (Potential).				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CAACCTGTCCGTGGCGCTGCC	0.652												
DEFB125	245938	broad.mit.edu	37	20	76676	76676	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:76676A>C	uc002wcw.2	+	2	89	c.89A>C	c.(88-90)AAT>ACT	p.N30T		NM_153325	NP_697020	Q8N687	DB125_HUMAN	defensin, beta 125 preproprotein	30					defense response to bacterium	extracellular region				ovary(1)|central_nervous_system(1)|skin(1)	3		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			TGTTGGAAGAATAATGTAGGA	0.323												
PDYN	5173	broad.mit.edu	37	20	1961052	1961052	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:1961052C>T	uc010gaj.2	-	3	924	c.682G>A	c.(682-684)GGT>AGT	p.G228S	uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.G228S|PDYN_uc010zpt.1_Missense_Mutation_p.G73S	NM_024411	NP_077722	P01213	PDYN_HUMAN	beta-neoendorphin-dynorphin preproprotein	228					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			upper_aerodigestive_tract(1)|ovary(1)	2						CGGAGAAAACCGCCATAGCGC	0.542												
PTPRA	5786	broad.mit.edu	37	20	3008359	3008359	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:3008359C>T	uc010zqd.1	+	19	2142	c.1825C>T	c.(1825-1827)CGG>TGG	p.R609W	PTPRA_uc002whj.2_Missense_Mutation_p.R598W|PTPRA_uc002whk.2_Missense_Mutation_p.R589W|PTPRA_uc002whl.2_Missense_Mutation_p.R589W|PTPRA_uc002whm.2_Missense_Mutation_p.R365W|PTPRA_uc002whn.2_Missense_Mutation_p.R589W|PTPRA_uc002who.2_Missense_Mutation_p.R261W	NM_002836	NP_002827	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	598	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1						GCAGGGCTACCGGCAGAAGGA	0.527												
HSPA12B	116835	broad.mit.edu	37	20	3729932	3729932	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:3729932G>T	uc002wjd.2	+	9	1007	c.904G>T	c.(904-906)GGC>TGC	p.G302C	HSPA12B_uc010zqi.1_Missense_Mutation_p.G301C|HSPA12B_uc002wje.2_Missense_Mutation_p.G215C|HSPA12B_uc010zqj.1_Missense_Mutation_p.G136C	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	302							ATP binding				0						GGTGGAGTCAGGCGTAGGAGA	0.622												
TASP1	55617	broad.mit.edu	37	20	13610646	13610646	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:13610646G>T	uc002woi.2	-	2	197	c.80C>A	c.(79-81)GCC>GAC	p.A27D	TASP1_uc010zri.1_RNA|TASP1_uc002woh.2_Missense_Mutation_p.A27D|TASP1_uc010zrj.1_RNA|TASP1_uc010zrk.1_Missense_Mutation_p.A27D	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN	taspase 1 precursor	27					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity				0						CAACTCTTTGGCTGTTATTTT	0.458												
C20orf26	26074	broad.mit.edu	37	20	20177224	20177224	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:20177224A>G	uc002wru.2	+	16	1677	c.1601A>G	c.(1600-1602)TAC>TGC	p.Y534C	C20orf26_uc010zse.1_Missense_Mutation_p.Y514C	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	534										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		GACATTGAGTACATACGGTCC	0.398												
CD93	22918	broad.mit.edu	37	20	23065849	23065849	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:23065849C>T	uc002wsv.2	-	1	1129	c.981G>A	c.(979-981)ACG>ACA	p.T327T		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	CD93 antigen precursor	327	EGF-like 2.|Extracellular (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			large_intestine(2)	2	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGCAGCGGCACGTGTAGTTTT	0.622												
CD93	22918	broad.mit.edu	37	20	23066467	23066467	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:23066467C>A	uc002wsv.2	-	1	511	c.363G>T	c.(361-363)GAG>GAT	p.E121D		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	CD93 antigen precursor	121	Extracellular (Potential).|C-type lectin.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			large_intestine(2)	2	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AAGGCGTGTCCTCCCCCCCGC	0.622												
CST11	140880	broad.mit.edu	37	20	23433327	23433327	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:23433327T>C	uc002wtf.1	-	1	156	c.122A>G	c.(121-123)GAA>GGA	p.E41G	CST11_uc002wtg.1_Missense_Mutation_p.E41G	NM_130794	NP_570612	Q9H112	CST11_HUMAN	cystatin 11 isoform 1 precursor	41					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CGCATAGTTTTCTACTGCCAT	0.483												
ENTPD6	955	broad.mit.edu	37	20	25203547	25203547	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:25203547A>G	uc002wuj.2	+	12	1299	c.1119A>G	c.(1117-1119)GAA>GAG	p.E373E	ENTPD6_uc010zsz.1_Silent_p.E155E|ENTPD6_uc002wum.2_Silent_p.E356E|ENTPD6_uc010zta.1_Silent_p.E373E|ENTPD6_uc002wun.2_Silent_p.E339E|ENTPD6_uc002wuk.2_Silent_p.E372E|ENTPD6_uc002wul.2_Silent_p.E372E|ENTPD6_uc010ztb.1_Silent_p.E345E|ENTPD6_uc010ztc.1_Silent_p.E345E|ENTPD6_uc002wuo.2_Silent_p.E125E|ENTPD6_uc010ztd.1_Silent_p.E121E|ENTPD6_uc010gdk.1_RNA|ENTPD6_uc010gdl.1_RNA	NM_001247	NP_001238	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6	373	Lumenal (Potential).					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity				0						GGACGGAGGAAGTGAAGCATG	0.572												
POFUT1	23509	broad.mit.edu	37	20	30818680	30818680	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:30818680C>T	uc002wxp.2	+	6	843	c.794C>T	c.(793-795)CCG>CTG	p.P265L	POFUT1_uc010ztt.1_Missense_Mutation_p.P157L|POFUT1_uc010ztu.1_Missense_Mutation_p.P54L	NM_015352	NP_056167	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1 isoform 1	265					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)	1			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ATGGCCTCTCCGCAGTGTGTG	0.612												
CBFA2T2	9139	broad.mit.edu	37	20	32232389	32232389	+	Silent	SNP	G	G	A	rs148637844		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:32232389G>A	uc002wzg.1	+	12	2289	c.1752G>A	c.(1750-1752)TCG>TCA	p.S584S	CBFA2T2_uc010zug.1_Silent_p.S358S|CBFA2T2_uc002wze.1_Silent_p.S575S|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Silent_p.S555S|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA|CBFA2T2_uc002wzk.1_Silent_p.S132S	NM_005093	NP_005084	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit	584						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)|skin(1)	2						ACAAGACCTCGGCAACCACAT	0.662												
C20orf4	25980	broad.mit.edu	37	20	34827741	34827741	+	Splice_Site	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:34827741A>C	uc002xfc.1	+	2	46	c.-47_splice	c.e2-2		C20orf4_uc002xfd.1_Splice_Site|C20orf4_uc002xfe.1_Splice_Site	NM_015511	NP_056326	Q9Y312	CT004_HUMAN	hypothetical protein LOC25980												0	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)				TTTCTTTCTCAGCTGTTCATC	0.363												
CTNNBL1	56259	broad.mit.edu	37	20	36488350	36488350	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:36488350T>A	uc010zvw.1	+	15	1533	c.1442T>A	c.(1441-1443)TTC>TAC	p.F481Y	CTNNBL1_uc002xhh.2_Missense_Mutation_p.F294Y|CTNNBL1_uc002xhi.2_RNA|CTNNBL1_uc002xhj.2_Missense_Mutation_p.F229Y	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	beta catenin-like 1	481					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			ovary(2)	2		Myeloproliferative disorder(115;0.00878)				GAGGAGGAGTTCTACCTCCGG	0.532												
PLCG1	5335	broad.mit.edu	37	20	39788762	39788762	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:39788762T>C	uc002xjp.1	+	4	602	c.481T>C	c.(481-483)TTT>CTT	p.F161L	PLCG1_uc002xjo.1_Missense_Mutation_p.F161L	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	161	EF-hand.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				CCGGAAGCAGTTTTACTCAGT	0.572												
PLCG1	5335	broad.mit.edu	37	20	39800838	39800838	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:39800838T>C	uc002xjp.1	+	25	2935	c.2814T>C	c.(2812-2814)ACT>ACC	p.T938T	PLCG1_uc002xjo.1_Silent_p.T938T|PLCG1_uc010zwe.1_Silent_p.T564T	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	938					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				ACCAGCTCACTGAAGGGAAGA	0.577												
CHD6	84181	broad.mit.edu	37	20	40049262	40049262	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:40049262C>G	uc002xka.1	-	31	6191	c.6013G>C	c.(6013-6015)GAG>CAG	p.E2005Q		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2005					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				TTTTGCCCCTCTGCACTTTCT	0.413												
CHD6	84181	broad.mit.edu	37	20	40102043	40102043	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:40102043C>T	uc002xka.1	-	17	2761	c.2583G>A	c.(2581-2583)GCG>GCA	p.A861A	CHD6_uc002xkd.2_Silent_p.A839A	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	861	Helicase C-terminal.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				CCAGGCCTCCCGCTCTGGTGC	0.517												
R3HDML	140902	broad.mit.edu	37	20	42979427	42979427	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:42979427T>C	uc002xls.1	+	5	929	c.757T>C	c.(757-759)TTC>CTC	p.F253L		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like precursor	253						extracellular region	peptidase inhibitor activity				0		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			GTTCACGTGGTTCTGAATTTT	0.507												
NCOA5	57727	broad.mit.edu	37	20	44695753	44695753	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:44695753T>C	uc002xrd.2	-	4	1098	c.570A>G	c.(568-570)AGA>AGG	p.R190R	NCOA5_uc002xrc.2_Silent_p.R78R|NCOA5_uc002xre.2_Silent_p.R190R	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)				CATCAAAGCGTCTCTGGATTT	0.433												
ZMYND8	23613	broad.mit.edu	37	20	45875225	45875225	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:45875225A>G	uc002xta.1	-	14	2005	c.1751T>C	c.(1750-1752)GTA>GCA	p.V584A	ZMYND8_uc010ghq.1_Missense_Mutation_p.V261A|ZMYND8_uc010ghr.1_Missense_Mutation_p.V559A|ZMYND8_uc002xst.1_Missense_Mutation_p.V512A|ZMYND8_uc002xsu.1_Missense_Mutation_p.V584A|ZMYND8_uc002xsv.1_Missense_Mutation_p.V512A|ZMYND8_uc002xsw.1_Missense_Mutation_p.V336A|ZMYND8_uc002xsx.1_Missense_Mutation_p.V336A|ZMYND8_uc002xsy.1_Missense_Mutation_p.V559A|ZMYND8_uc002xsz.1_Missense_Mutation_p.V521A|ZMYND8_uc010zxy.1_Missense_Mutation_p.V611A|ZMYND8_uc002xtb.1_Missense_Mutation_p.V604A|ZMYND8_uc002xss.2_Missense_Mutation_p.V584A|ZMYND8_uc010zxz.1_Missense_Mutation_p.V579A|ZMYND8_uc002xtc.1_Missense_Mutation_p.V604A|ZMYND8_uc002xtd.1_Missense_Mutation_p.V579A|ZMYND8_uc002xte.1_Missense_Mutation_p.V584A|ZMYND8_uc010zya.1_Missense_Mutation_p.V584A|ZMYND8_uc002xtf.1_Missense_Mutation_p.V604A|ZMYND8_uc002xtg.2_Missense_Mutation_p.V578A|ZMYND8_uc010ghs.1_Missense_Mutation_p.V578A	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	584							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GCTGTGCTCTACGGCCGTATA	0.418												
STAU1	6780	broad.mit.edu	37	20	47734382	47734382	+	Missense_Mutation	SNP	C	C	T	rs146630196		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:47734382C>T	uc002xud.2	-	11	1852	c.1441G>A	c.(1441-1443)GTA>ATA	p.V481I	STAU1_uc002xua.2_Missense_Mutation_p.V400I|STAU1_uc002xub.2_Missense_Mutation_p.V406I|STAU1_uc002xuc.2_Missense_Mutation_p.V400I|STAU1_uc002xue.2_Missense_Mutation_p.V400I|STAU1_uc002xuf.2_Missense_Mutation_p.V406I|STAU1_uc002xug.2_Missense_Mutation_p.V481I	NM_017453	NP_059347	O95793	STAU1_HUMAN	staufen isoform b	481						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			ovary(4)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CCATGGGGTACGTGGCCTGAA	0.542												
B4GALT5	9334	broad.mit.edu	37	20	48256306	48256306	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:48256306T>G	uc002xuu.3	-	7	1020	c.826A>C	c.(826-828)AGT>CGT	p.S276R		NM_004776	NP_004767	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	276	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			GTTAAGCCACTCACTCCGCCA	0.473												
ATP9A	10079	broad.mit.edu	37	20	50255941	50255941	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:50255941T>C	uc002xwg.1	-	15	1609	c.1609A>G	c.(1609-1611)ACC>GCC	p.T537A	ATP9A_uc010gih.1_Missense_Mutation_p.T401A|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	537	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4						TGTAGGATGGTGAAGTTCAGG	0.527											OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TSHZ2	128553	broad.mit.edu	37	20	51870150	51870150	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:51870150C>T	uc002xwo.2	+	2	1109	c.153C>T	c.(151-153)GAC>GAT	p.D51D		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	51					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			CAGGGACGGACGAGGAGCTAG	0.408												
ZNF217	7764	broad.mit.edu	37	20	52193331	52193331	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:52193331T>C	uc002xwq.3	-	3	2243	c.1972A>G	c.(1972-1974)AAC>GAC	p.N658D	ZNF217_uc010gij.1_Missense_Mutation_p.N650D	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	658					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)			ACTTCAAGGTTATGGGTGGTA	0.463												
ZNF217	7764	broad.mit.edu	37	20	52198795	52198795	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:52198795C>A	uc002xwq.3	-	1	842	c.571G>T	c.(571-573)GGC>TGC	p.G191C	ZNF217_uc010gij.1_Missense_Mutation_p.G183C	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	191					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)			CTCTCCAAGCCTTGCTGCAGT	0.507												
BCAS1	8537	broad.mit.edu	37	20	52645335	52645335	+	Missense_Mutation	SNP	T	T	C	rs143563841		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:52645335T>C	uc002xws.2	-	4	657	c.319A>G	c.(319-321)ACC>GCC	p.T107A	BCAS1_uc010zzb.1_Missense_Mutation_p.T10A|BCAS1_uc010gim.2_Missense_Mutation_p.T10A|BCAS1_uc002xwt.2_Missense_Mutation_p.T107A|BCAS1_uc010gil.1_Missense_Mutation_p.T107A|BCAS1_uc010zzc.1_Missense_Mutation_p.T10A	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	107						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TGGTCTCCGGTACGTCCTGGT	0.517												
ZBP1	81030	broad.mit.edu	37	20	56188310	56188310	+	Silent	SNP	T	T	C	rs141358064		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:56188310T>C	uc002xyo.2	-	5	860	c.579A>G	c.(577-579)GGA>GGG	p.G193G	ZBP1_uc010gjm.2_Silent_p.G192G|ZBP1_uc002xyp.2_Silent_p.G118G|ZBP1_uc010zzn.1_Silent_p.G193G	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1 isoform a	193						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			ovary(2)	2	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			AGCTGTTGGGTCCATTCTGGC	0.438												
ZNF831	128611	broad.mit.edu	37	20	57766920	57766920	+	Silent	SNP	T	T	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:57766920T>A	uc002yan.2	+	1	846	c.846T>A	c.(844-846)TCT>TCA	p.S282S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	282						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					CTTGGGACTCTGCCCCCATGG	0.662												
PHACTR3	116154	broad.mit.edu	37	20	58349364	58349364	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:58349364C>T	uc002yau.2	+	7	1460	c.993C>T	c.(991-993)TCC>TCT	p.S331S	PHACTR3_uc002yat.2_Silent_p.S328S|PHACTR3_uc010zzw.1_Silent_p.S290S|PHACTR3_uc002yav.2_Silent_p.S290S|PHACTR3_uc002yaw.2_Silent_p.S290S|PHACTR3_uc002yax.2_Silent_p.S220S	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	331						nuclear matrix	actin binding|protein phosphatase inhibitor activity			ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CGAGAACGTCCAGCGTGGAGC	0.522												
CABLES2	81928	broad.mit.edu	37	20	60971390	60971390	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:60971390A>G	uc002ycv.2	-	3	515	c.508T>C	c.(508-510)TAC>CAC	p.Y170H		NM_031215	NP_112492	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	170					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			pancreas(1)	1	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CTGGTGTCGTACTGCCTCATG	0.562												
SLCO4A1	28231	broad.mit.edu	37	20	61297757	61297757	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:61297757T>C	uc002ydb.1	+	7	1507	c.1302T>C	c.(1300-1302)GGT>GGC	p.G434G	SLCO4A1_uc002ydc.1_RNA|LOC100127888_uc002ydd.2_RNA|SLCO4A1_uc002yde.1_5'Flank	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family	434	Helical; Name=8; (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(1)	1	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CAGCGGGTGGTGGCGGCACCT	0.662												
TCFL5	10732	broad.mit.edu	37	20	61488984	61488984	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:61488984G>A	uc002ydp.2	-	4	1094	c.1001C>T	c.(1000-1002)GCG>GTG	p.A334V	TCFL5_uc002ydo.2_Missense_Mutation_p.A107V|TCFL5_uc002ydq.2_Missense_Mutation_p.A333V	NM_006602	NP_006593	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 protein	334					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)	1	Breast(26;5.68e-08)					TTTGCATAGCGCTGCTTCTTT	0.388												
KCNQ2	3785	broad.mit.edu	37	20	62070977	62070977	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:62070977C>T	uc002yey.1	-	6	1078	c.901G>A	c.(901-903)GGT>AGT	p.G301S	KCNQ2_uc002yez.1_Missense_Mutation_p.G301S|KCNQ2_uc002yfa.1_Missense_Mutation_p.G301S|KCNQ2_uc002yfb.1_Missense_Mutation_p.G301S|KCNQ2_uc011aax.1_Missense_Mutation_p.G301S|KCNQ2_uc002yfc.1_Missense_Mutation_p.G301S	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	301	Helical; Name=Segment S6; (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	AAGGAGACACCGATGAGGGTG	0.642												
PRIC285	85441	broad.mit.edu	37	20	62196230	62196230	+	Silent	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:62196230G>T	uc002yfm.2	-	9	4837	c.3945C>A	c.(3943-3945)ACC>ACA	p.T1315T	PRIC285_uc002yfl.1_Silent_p.T746T	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1315					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CCTTGGTGATGGTGGCCTGGT	0.677												
ARFRP1	10139	broad.mit.edu	37	20	62333552	62333552	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:62333552G>A	uc002yga.2	-	4	849	c.282C>T	c.(280-282)CAC>CAT	p.H94H	ARFRP1_uc002ygc.2_Silent_p.H94H|ARFRP1_uc002ygh.3_Silent_p.H94H|ARFRP1_uc011abf.1_Silent_p.H94H|ARFRP1_uc011abg.1_Silent_p.H94H|ARFRP1_uc002yge.2_RNA|ARFRP1_uc002ygd.2_RNA|ARFRP1_uc002ygf.2_Silent_p.H94H|ARFRP1_uc002ygg.2_RNA|ARFRP1_uc011abh.1_RNA	NM_003224	NP_003215	Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	94					small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity			breast(1)|skin(1)	2	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			AGATGACGCCGTGACACTCCG	0.622												
APP	351	broad.mit.edu	37	21	27425630	27425630	+	Silent	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:27425630A>C	uc002ylz.2	-	4	590	c.390T>G	c.(388-390)CCT>CCG	p.P130P	APP_uc010glk.2_Silent_p.P125P|APP_uc002yma.2_Silent_p.P130P|APP_uc011ach.1_Silent_p.P74P|APP_uc002ymb.2_Silent_p.P130P|APP_uc010glj.2_Silent_p.P74P|APP_uc011aci.1_Silent_p.P95P|APP_uc011acj.1_Silent_p.P130P	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	130	Extracellular (Potential).				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				TGCACTTGTCAGGAACGAGAA	0.458												
CYYR1	116159	broad.mit.edu	37	21	27938629	27938629	+	Silent	SNP	C	C	T	rs146759335	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:27938629C>T	uc002ymd.2	-	2	454	c.132G>A	c.(130-132)ACG>ACA	p.T44T	CYYR1_uc011ack.1_RNA|CYYR1_uc002yme.2_Silent_p.T44T	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	cysteine and tyrosine-rich 1 protein precursor	44	Extracellular (Potential).					integral to membrane					0						AACAGTAGGGCGTGGTTCCAT	0.423												
ADAMTS5	11096	broad.mit.edu	37	21	28296636	28296636	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:28296636T>A	uc002ymg.2	-	8	3258	c.2529A>T	c.(2527-2529)TTA>TTT	p.L843F		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	843	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						AACGGACATCTAATGGTTTAG	0.463												
RNF160	26046	broad.mit.edu	37	21	30365199	30365199	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:30365199G>A	uc002ymr.2	-	1	79	c.66C>T	c.(64-66)GCC>GCT	p.A22A		NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	Error:Variant_position_missing_in_O94822_after_alignment							ligase activity|zinc ion binding				0						TCCGGCTTCTGGCGGCGGAAG	0.627												
TIAM1	7074	broad.mit.edu	37	21	32639181	32639181	+	Silent	SNP	C	C	T	rs144300474		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:32639181C>T	uc002yow.1	-	5	580	c.108G>A	c.(106-108)ACG>ACA	p.T36T	TIAM1_uc011adk.1_Silent_p.T36T|TIAM1_uc011adl.1_Silent_p.T36T|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	36					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						TGGTCCTCCGCGTCTTGTGCG	0.612												
SON	6651	broad.mit.edu	37	21	34924556	34924556	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:34924556C>T	uc002yse.1	+	3	3068	c.3019C>T	c.(3019-3021)CGT>TGT	p.R1007C	SON_uc002ysb.1_Missense_Mutation_p.R1007C|SON_uc002ysc.2_Missense_Mutation_p.R1007C|SON_uc002ysd.2_Translation_Start_Site|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Translation_Start_Site	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	1007	1-1.|14 X 6 AA repeats of [ED]-R-S-M-M-S.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						TGCTGCAGAACGTTCCATGAT	0.483												
DSCR6	53820	broad.mit.edu	37	21	38380463	38380463	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:38380463G>A	uc002yvv.2	+	2	321	c.111G>A	c.(109-111)GCG>GCA	p.A37A	DSCR6_uc011aec.1_5'UTR|DSCR6_uc010gnd.2_5'UTR	NM_018962	NP_061835	P57055	DSCR6_HUMAN	Down syndrome critical region protein 6	37						nucleus				breast(1)	1		Myeloproliferative disorder(46;0.0632)				CCAGCCCCGCGCCGTGGCGAC	0.587												
ZNF295	49854	broad.mit.edu	37	21	43412127	43412127	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:43412127G>A	uc002zab.3	-	3	2292	c.2078C>T	c.(2077-2079)CCA>CTA	p.P693L	ZNF295_uc002yzz.3_Intron|ZNF295_uc002yzy.3_Missense_Mutation_p.P693L|ZNF295_uc002zaa.3_Missense_Mutation_p.P693L	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	693					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3						TTTTTCTCCTGGATGCATTTT	0.433												
RRP1B	23076	broad.mit.edu	37	21	45107681	45107681	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:45107681C>T	uc002zdk.2	+	13	1540	c.1426C>T	c.(1426-1428)CGG>TGG	p.R476W	RRP1B_uc002zdl.2_Missense_Mutation_p.R9W	NM_015056	NP_055871	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1 homolog B	476					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			skin(1)	1				STAD - Stomach adenocarcinoma(101;0.178)		GAAACGGCCACGGAAGAAGAG	0.617												
COL18A1	80781	broad.mit.edu	37	21	46907379	46907379	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:46907379G>A	uc011afs.1	+	16	3118	c.3097G>A	c.(3097-3099)GGG>AGG	p.G1033R	COL18A1_uc002zhg.2_Missense_Mutation_p.G618R|COL18A1_uc002zhi.2_Missense_Mutation_p.G798R	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1033	Nonhelical region 4 (NC4).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGAAGGCTCCGGGGGGCCCTT	0.647												
COL6A1	1291	broad.mit.edu	37	21	47422515	47422515	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:47422515A>G	uc002zhu.1	+	33	2427	c.2325A>G	c.(2323-2325)CAA>CAG	p.Q775Q	COL6A1_uc010gqd.1_Silent_p.Q106Q|COL6A1_uc002zhv.1_Silent_p.Q106Q|COL6A1_uc002zhw.1_5'UTR	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	775	VWFA 2.|C-terminal globular domain.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	TTTCTTGCCAAGGCCTGGCAC	0.582												
COL6A2	1292	broad.mit.edu	37	21	47545909	47545909	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:47545909C>T	uc002zia.1	+	26	2262	c.2180C>T	c.(2179-2181)GCG>GTG	p.A727V	COL6A2_uc002zhy.1_Missense_Mutation_p.A727V|COL6A2_uc002zhz.1_Missense_Mutation_p.A727V|COL6A2_uc002zib.1_Missense_Mutation_p.A133V|COL6A2_uc002zic.1_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	727	VWFA 2.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CGTGTGTTTGCGGTGGTCATC	0.657												
LSS	4047	broad.mit.edu	37	21	47633708	47633708	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:47633708G>A	uc002zij.2	-	10	1132	c.1053C>T	c.(1051-1053)GAC>GAT	p.D351D	LSS_uc011afv.1_Silent_p.D340D|LSS_uc002zil.2_Silent_p.D351D|LSS_uc002zik.2_Silent_p.D271D	NM_001001438	NP_001001438	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	351					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)					AGGCGGGCCCGTCCACATACC	0.602												
CLTCL1	8218	broad.mit.edu	37	22	19241652	19241652	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:19241652T>C	uc002zpb.2	-	3	424	c.349A>G	c.(349-351)AAC>GAC	p.N117D	CLTCL1_uc011agv.1_Missense_Mutation_p.N117D|CLTCL1_uc011agw.1_Missense_Mutation_p.N117D	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	117	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					GCAACAGTGTTCACAGAAACC	0.463			T	?	ALCL							
TXNRD2	10587	broad.mit.edu	37	22	19905729	19905729	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:19905729G>A	uc011ahc.1	-	5	419	c.386C>T	c.(385-387)GCA>GTA	p.A129V	TXNRD2_uc002zql.1_5'UTR|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Missense_Mutation_p.A128V|TXNRD2_uc010grv.1_Missense_Mutation_p.A129V|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqs.2_Missense_Mutation_p.A97V	NM_006440	NP_006431	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2 precursor	129					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			ovary(2)	2	Colorectal(54;0.0993)					AACAGCTTCTGCCATCTTCCT	0.493												
RTN4R	65078	broad.mit.edu	37	22	20230039	20230039	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:20230039C>T	uc002zrv.2	-	2	818	c.617G>A	c.(616-618)CGT>CAT	p.R206H	RTN4R_uc002zru.2_5'UTR	NM_023004	NP_075380	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor precursor	206	LRR 7.				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity				0	Colorectal(54;0.0993)					CAGTAGGAGACGGTCGAGGCT	0.622												
ZNF74	7625	broad.mit.edu	37	22	20760268	20760268	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:20760268C>T	uc010gsm.2	+	6	1157	c.945C>T	c.(943-945)TGC>TGT	p.C315C	ZNF74_uc002zsg.2_Silent_p.C244C|ZNF74_uc002zsh.2_Silent_p.C315C|ZNF74_uc002zsi.2_Silent_p.C244C|ZNF74_uc010gsn.2_Silent_p.C244C	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	315	C2H2-type 3.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CCTTCAGCTGCCACTCGTCCC	0.657												
LZTR1	8216	broad.mit.edu	37	22	21340177	21340177	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:21340177C>G	uc002zto.2	+	3	414	c.311C>G	c.(310-312)TCC>TGC	p.S104C	LZTR1_uc002ztn.2_Missense_Mutation_p.S63C|LZTR1_uc011ahy.1_Intron|LZTR1_uc010gsr.1_5'Flank	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	104	Kelch 1.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AAAGACTGCTCCTGGTGCAGG	0.582												
SLC7A4	6545	broad.mit.edu	37	22	21385698	21385698	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:21385698C>T	uc002zud.2	-	2	472	c.404G>A	c.(403-405)CGT>CAT	p.R135H	SLC7A4_uc002zue.2_Missense_Mutation_p.R135H	NM_004173	NP_004164	O43246	CTR4_HUMAN	solute carrier family 7 (cationic amino acid	135					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			ovary(1)|lung(1)	2	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ACTCCAGGCACGGGCCACGGC	0.607												
ZNF280A	129025	broad.mit.edu	37	22	22869883	22869883	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:22869883C>A	uc002zwe.2	-	2	325	c.72G>T	c.(70-72)GAG>GAT	p.E24D	LOC96610_uc011aim.1_Intron	NM_080740	NP_542778	P59817	Z280A_HUMAN	zinc finger protein 280A	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CATCATCCTCCTCCCTTTGTT	0.383												
SUSD2	56241	broad.mit.edu	37	22	24581755	24581755	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:24581755G>A	uc002zzn.1	+	8	1241	c.1197G>A	c.(1195-1197)ACG>ACA	p.T399T		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	399	AMOP.|Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CGTTCCGCACGCCACCCCGAG	0.677												
SGSM1	129049	broad.mit.edu	37	22	25251295	25251295	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:25251295T>A	uc003abg.2	+	7	724	c.567T>A	c.(565-567)GAT>GAA	p.D189E	SGSM1_uc003abh.2_Missense_Mutation_p.D189E|SGSM1_uc010guu.1_Missense_Mutation_p.D189E|SGSM1_uc003abj.2_Missense_Mutation_p.D189E|SGSM1_uc003abi.1_Missense_Mutation_p.D164E|SGSM1_uc003abf.2_Missense_Mutation_p.D189E	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	189	RUN.					Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5						AGACTGCAGATCACTTCTGGA	0.627												
SEZ6L	23544	broad.mit.edu	37	22	26736590	26736590	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:26736590A>G	uc003acb.2	+	10	2360	c.2204A>G	c.(2203-2205)AAC>AGC	p.N735S	SEZ6L_uc003acc.2_Missense_Mutation_p.N735S|SEZ6L_uc011akc.1_Missense_Mutation_p.N735S|SEZ6L_uc003acd.2_Missense_Mutation_p.N735S|SEZ6L_uc011akd.1_Missense_Mutation_p.N735S|SEZ6L_uc003ace.2_Missense_Mutation_p.N735S|SEZ6L_uc003acf.1_Missense_Mutation_p.N508S|SEZ6L_uc010gvc.1_Missense_Mutation_p.N508S	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	735	CUB 3.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6						TTTATCATGAACTACATAGGT	0.448												
CHEK2	11200	broad.mit.edu	37	22	29090021	29090021	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:29090021T>C	uc003adu.1	-	13	1532	c.1460A>G	c.(1459-1461)CAG>CGG	p.Q487R	CHEK2_uc003ads.1_Missense_Mutation_p.Q266R|CHEK2_uc010gvh.1_Missense_Mutation_p.Q396R|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.Q530R|CHEK2_uc003adv.1_Missense_Mutation_p.Q458R|CHEK2_uc003adw.1_Missense_Mutation_p.Q487R|CHEK2_uc003adx.1_Missense_Mutation_p.Q266R|CHEK2_uc003ady.1_Missense_Mutation_p.Q476R|CHEK2_uc003adz.1_Missense_Mutation_p.Q291R	NM_007194	NP_009125	O96017	CHK2_HUMAN	protein kinase CHK2 isoform a	487					cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						CACACCCACCTGAAGCCACGG	0.478			F			breast 		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			
ZNRF3	84133	broad.mit.edu	37	22	29440867	29440867	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:29440867C>T	uc003aeg.2	+	5	598	c.433C>T	c.(433-435)CGA>TGA	p.R145*	ZNRF3_uc003aeh.1_Nonsense_Mutation_p.R145*	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	245	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1						GCTGAAGCAGCGACGCAGTCA	0.512												
AP1B1	162	broad.mit.edu	37	22	29745219	29745219	+	Silent	SNP	G	G	A	rs144812422		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:29745219G>A	uc003afj.2	-	11	1609	c.1425C>T	c.(1423-1425)GAC>GAT	p.D475D	AP1B1_uc003afi.2_Silent_p.D475D|AP1B1_uc003afk.2_Silent_p.D475D|AP1B1_uc003afl.2_Silent_p.D475D|AP1B1_uc011ako.1_Silent_p.D28D	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	475					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						GTGTGCTCTCGTCATGGAAGC	0.612												
AP1B1	162	broad.mit.edu	37	22	29754898	29754898	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:29754898G>A	uc003afj.2	-	5	526	c.342C>T	c.(340-342)CGC>CGT	p.R114R	AP1B1_uc003afi.2_Silent_p.R114R|AP1B1_uc003afk.2_Silent_p.R114R|AP1B1_uc003afl.2_Silent_p.R114R	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	114					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						TCTTGTCAACGCGGATGCAGC	0.637												
MTMR3	8897	broad.mit.edu	37	22	30408454	30408454	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:30408454C>T	uc003agv.3	+	13	1547	c.1219C>T	c.(1219-1221)CGG>TGG	p.R407W	MTMR3_uc003agu.3_Missense_Mutation_p.R407W|MTMR3_uc003agw.3_Missense_Mutation_p.R407W	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	407	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCAGGATCAGCGGCCGGTGCT	0.522												
MORC2	22880	broad.mit.edu	37	22	31332627	31332627	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:31332627A>G	uc003aje.1	-	18	2786	c.1422T>C	c.(1420-1422)TGT>TGC	p.C474C		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	536	CW-type.						ATP binding|zinc ion binding			ovary(1)|pancreas(1)	2						CAGAAGCCTCACACCTGTAGA	0.498												
PATZ1	23598	broad.mit.edu	37	22	31741479	31741479	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:31741479C>T	uc003akq.2	-	1	771	c.110G>A	c.(109-111)GGC>GAC	p.G37D	PATZ1_uc003akp.2_Missense_Mutation_p.G37D|PATZ1_uc003akr.2_Missense_Mutation_p.G37D|PATZ1_uc003aks.2_Missense_Mutation_p.G37D|uc003akt.2_5'Flank	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	37					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	soft_tissue(2)	2						GAAGCGCCCGCCGTTTTTGCG	0.637												
EIF4ENIF1	56478	broad.mit.edu	37	22	31840668	31840668	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:31840668C>T	uc003akz.1	-	15	2161	c.1997G>A	c.(1996-1998)CGA>CAA	p.R666Q	EIF4ENIF1_uc003akx.1_Missense_Mutation_p.R321Q|EIF4ENIF1_uc003aky.1_Missense_Mutation_p.R346Q|EIF4ENIF1_uc003ala.1_Missense_Mutation_p.R666Q|EIF4ENIF1_uc003alb.1_Missense_Mutation_p.R492Q|EIF4ENIF1_uc003akw.1_Missense_Mutation_p.R156Q	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E	666						nucleus	protein binding|protein transporter activity			ovary(1)	1						CTTGGTCACTCGCTGTTGCCT	0.468											OREG0003516	type=REGULATORY REGION|Gene=EIF4ENIF1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
SFI1	9814	broad.mit.edu	37	22	31924781	31924781	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:31924781T>C	uc003ale.2	+	3	591	c.198T>C	c.(196-198)AGT>AGC	p.S66S	SFI1_uc003ald.1_Silent_p.S66S|SFI1_uc003alf.2_Silent_p.S66S|SFI1_uc003alg.2_Intron|SFI1_uc011alp.1_Intron|SFI1_uc011alq.1_Silent_p.S66S|SFI1_uc003alh.2_Intron	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	spindle assembly associated Sfi1 homolog isoform	66					G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1						CTAGTACCAGTCATCTAGTGC	0.488												
SFI1	9814	broad.mit.edu	37	22	32009377	32009377	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:32009377G>T	uc003ale.2	+	26	2996	c.2603G>T	c.(2602-2604)AGG>ATG	p.R868M	SFI1_uc003alf.2_Missense_Mutation_p.R837M|SFI1_uc003alg.2_Missense_Mutation_p.R786M|SFI1_uc011alp.1_Missense_Mutation_p.R774M|SFI1_uc011alq.1_Missense_Mutation_p.R813M|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA|SFI1_uc003ali.2_5'Flank|SFI1_uc003alj.2_5'Flank	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	spindle assembly associated Sfi1 homolog isoform	868					G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1						CTGGAAAGGAGGAGAAAGAAG	0.662												
DEPDC5	9681	broad.mit.edu	37	22	32179916	32179916	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:32179916T>C	uc003als.2	+	9	649	c.507T>C	c.(505-507)GCT>GCC	p.A169A	DEPDC5_uc011als.1_Silent_p.A169A|DEPDC5_uc011alu.1_Silent_p.A169A|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Silent_p.A169A|DEPDC5_uc003alr.1_Silent_p.A169A|DEPDC5_uc011alt.1_Silent_p.A141A	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	169					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						CTACGTCGGCTATGGTTTACA	0.284												
C22orf24	25775	broad.mit.edu	37	22	32334034	32334034	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:32334034T>C	uc003aly.2	-	2	186	c.19A>G	c.(19-21)ACA>GCA	p.T7A	C22orf24_uc003alx.2_RNA	NM_015372	NP_056187	Q9Y442	CV024_HUMAN	hypothetical protein LOC25775	7						integral to membrane				central_nervous_system(1)	1						AGCCCTGTTGTATCCTCTTGA	0.358												
HMOX1	3162	broad.mit.edu	37	22	35785929	35785929	+	Missense_Mutation	SNP	C	C	T	rs145427664	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:35785929C>T	uc003ant.1	+	4	789	c.709C>T	c.(709-711)CGC>TGC	p.R237C		NM_002133	NP_002124	P09601	HMOX1_HUMAN	heme oxygenase (decyclizing) 1	237					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity			ovary(1)	1					NADH(DB00157)	ACCAGGGCTTCGCCAGCGGGC	0.557												
MYH9	4627	broad.mit.edu	37	22	36689461	36689461	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:36689461C>T	uc003apg.2	-	30	4240	c.4009G>A	c.(4009-4011)GAG>AAG	p.E1337K		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1337	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						GAATTCTTCTCGTCCTCCACC	0.622			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated			
MYH9	4627	broad.mit.edu	37	22	36695071	36695071	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:36695071T>C	uc003apg.2	-	24	3225	c.2994A>G	c.(2992-2994)GAA>GAG	p.E998E		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	998	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						CTATTCTGTCTTCCAGCAGTT	0.498			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated			
MYH9	4627	broad.mit.edu	37	22	36714301	36714302	+	Missense_Mutation	DNP	CG	CG	TA			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:36714301_36714302CG>TA	uc003apg.2	-	11	1408_1409	c.1177_1178CG>TA	c.(1177-1179)CGC>TAC	p.R393Y	MYH9_uc003aph.1_Missense_Mutation_p.R257Y	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	393	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						CACCTTGATGCGCGGGGTGAGG	0.54			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated			
ELFN2	114794	broad.mit.edu	37	22	37769252	37769252	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:37769252G>A	uc003asq.3	-	3	3109	c.2323C>T	c.(2323-2325)CCC>TCC	p.P775S		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	775	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					TTCTTGTAGGGCCGGAAGCGC	0.612												
ANKRD54	129138	broad.mit.edu	37	22	38228694	38228694	+	Missense_Mutation	SNP	G	G	A	rs144561541		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:38228694G>A	uc003auc.2	-	7	836	c.778C>T	c.(778-780)CGC>TGC	p.R260C	ANKRD54_uc003aud.2_Missense_Mutation_p.R137C	NM_138797	NP_620152	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	260											0	Melanoma(58;0.045)					TCATCCAGGCGTTCTCGCTGC	0.612												
MGAT3	4248	broad.mit.edu	37	22	39884545	39884545	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:39884545G>A	uc003axv.3	+	2	1432	c.1193G>A	c.(1192-1194)CGC>CAC	p.R398H	MGAT3_uc010gxy.2_Missense_Mutation_p.R398H	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	398	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)					TATGAGAACCGCACCGGCCAC	0.642												
SMCR7L	54471	broad.mit.edu	37	22	39909860	39909860	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:39909860C>T	uc003axx.2	+	6	1422	c.924C>T	c.(922-924)CTC>CTT	p.L308L	SMCR7L_uc003axw.2_Silent_p.L308L|SMCR7L_uc010gxz.1_Silent_p.L130L|SMCR7L_uc003axy.2_Silent_p.L130L	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	hypothetical protein LOC54471	308						integral to membrane|mitochondrion				central_nervous_system(1)	1	Melanoma(58;0.04)					ACAAACATCTCTTCATTGACT	0.587											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SGSM3	27352	broad.mit.edu	37	22	40804113	40804113	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:40804113C>T	uc003ayu.1	+	15	1827	c.1618C>T	c.(1618-1620)CGC>TGC	p.R540C	SGSM3_uc011aos.1_Missense_Mutation_p.R473C|SGSM3_uc011aot.1_Missense_Mutation_p.R477C|SGSM3_uc010gyd.1_Missense_Mutation_p.R611C	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	540					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			ovary(2)	2						CCTGGATGAGCGCAGCAAAGA	0.632												
SEPT3	55964	broad.mit.edu	37	22	42390663	42390663	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:42390663T>C	uc003bbr.3	+	10	1094	c.956T>C	c.(955-957)ATC>ACC	p.I319T	WBP2NL_uc011ape.1_Intron|SEPT3_uc003bbs.3_Missense_Mutation_p.I319T|SEPT3_uc010gyr.2_Missense_Mutation_p.I255T|SEPT3_uc011apj.1_Missense_Mutation_p.I255T|SEPT3_uc010gys.2_Missense_Mutation_p.I99T	NM_145733	NP_663786	Q9UH03	SEPT3_HUMAN	septin 3 isoform A	319					cell cycle|cytokinesis	cell junction|septin complex	GTP binding				0						ACACACAACATCCACTATGAG	0.567												
ATXN10	25814	broad.mit.edu	37	22	46136420	46136420	+	Splice_Site	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:46136420T>C	uc003bgm.1	+	9	1430	c.1173_splice	c.e9+2	p.K391_splice	ATXN10_uc011aqt.1_Splice_Site_p.K327_splice|ATXN10_uc003bgn.1_Splice_Site_p.K202_splice	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN	ataxin 10						cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				ovary(1)|kidney(1)	2		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CAAGACAAGGTAAGAGGATTT	0.378												
PPARA	5465	broad.mit.edu	37	22	46611192	46611192	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:46611192G>T	uc003bgw.1	+	5	597	c.331G>T	c.(331-333)GGC>TGC	p.G111C	PPARA_uc003bgx.1_Missense_Mutation_p.G111C|PPARA_uc010hab.1_Missense_Mutation_p.G111C|PPARA_uc003bha.2_Missense_Mutation_p.G111C|PPARA_uc003bhb.1_Missense_Mutation_p.G111C|PPARA_uc010hac.1_Translation_Start_Site	NM_005036	NP_005027	Q07869	PPARA_HUMAN	peroxisome proliferative activated receptor,	111	Nuclear receptor.|NR C4-type.				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|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|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	CAAGGCCTCAGGCTATCATTA	0.572												
PKDREJ	10343	broad.mit.edu	37	22	46655432	46655432	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:46655432A>T	uc003bhh.2	-	1	3788	c.3788T>A	c.(3787-3789)GTG>GAG	p.V1263E		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1263	Cytoplasmic (Potential).|PLAT.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TAAACAATGCACGTCGCTGGT	0.468												
CELSR1	9620	broad.mit.edu	37	22	46793716	46793716	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:46793716G>A	uc003bhw.1	-	12	5556	c.5556C>T	c.(5554-5556)AAC>AAT	p.N1852N	CELSR1_uc011arc.1_Silent_p.N173N	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1852	Extracellular (Potential).|Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGGTGGCGACGTTGGTGGGCG	0.597												
TBC1D22A	25771	broad.mit.edu	37	22	47308004	47308004	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:47308004G>A	uc003bib.2	+	8	1070	c.935G>A	c.(934-936)CGC>CAC	p.R312H	TBC1D22A_uc010haf.2_Missense_Mutation_p.R282H|TBC1D22A_uc003bic.2_Missense_Mutation_p.R253H|TBC1D22A_uc003bie.2_Missense_Mutation_p.R234H|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.R265H	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	312	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			ovary(1)	1		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		TGGGCGATCCGCCACCCAGCC	0.383												
BRD1	23774	broad.mit.edu	37	22	50169717	50169717	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:50169717T>C	uc003biv.2	-	10	3306	c.2819A>G	c.(2818-2820)TAC>TGC	p.Y940C	BRD1_uc011arf.1_Missense_Mutation_p.Y666C|BRD1_uc011arg.1_Missense_Mutation_p.Y989C|BRD1_uc011arh.1_Missense_Mutation_p.Y940C|BRD1_uc003biu.3_Missense_Mutation_p.Y1071C	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	940	PWWP.				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTAGGAGGGGTAGCCGCTGCA	0.682												
BRD1	23774	broad.mit.edu	37	22	50197979	50197979	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:50197979A>G	uc003biv.2	-	2	1884	c.1397T>C	c.(1396-1398)ATT>ACT	p.I466T	BRD1_uc011arf.1_Missense_Mutation_p.I61T|BRD1_uc011arg.1_Missense_Mutation_p.I520T|BRD1_uc011arh.1_Missense_Mutation_p.I466T|BRD1_uc003biu.3_Missense_Mutation_p.I466T	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	466					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTTCCGCTGAATGGCCACCTG	0.507												
ZBED4	9889	broad.mit.edu	37	22	50277790	50277790	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:50277790C>T	uc003bix.2	+	2	950	c.480C>T	c.(478-480)CAC>CAT	p.H160H		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	160	BED-type 1.					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TCATGAGGCACGTGAGGCGCG	0.547												
TTLL8	164714	broad.mit.edu	37	22	50470360	50470360	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:50470360C>T	uc011ark.1	-	11	1462	c.1462G>A	c.(1462-1464)GCC>ACC	p.A488T		NM_001080447	NP_001073916			tubulin tyrosine ligase-like family, member 8											ovary(2)	2		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		ATGGCGTGGGCGATGGCCTTC	0.637												
SELO	83642	broad.mit.edu	37	22	50655450	50655450	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:50655450C>T	uc011arr.1	+	8	1796	c.1738C>T	c.(1738-1740)CAG>TAG	p.Q580*	SELO_uc010hap.2_Nonsense_Mutation_p.Q391*|SELO_uc003bjy.2_Nonsense_Mutation_p.Q260*|SELO_uc003bjz.2_Nonsense_Mutation_p.Q331*	NM_031454	NP_113642	Q9BVL4	SELO_HUMAN	selenoprotein O	580											0		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TGCCGCCTGGCAGGCTGAGCA	0.642												
PLXNB2	23654	broad.mit.edu	37	22	50714358	50714358	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:50714358A>G	uc003bkv.3	-	36	5478	c.5372T>C	c.(5371-5373)CTC>CCC	p.L1791P	PLXNB2_uc003bkt.1_Missense_Mutation_p.L583P|PLXNB2_uc003bku.1_Missense_Mutation_p.L776P	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1791	Cytoplasmic (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAGCTGGTGGAGTGCCACGAG	0.672											OREG0026679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PLXNB2	23654	broad.mit.edu	37	22	50717305	50717305	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:50717305T>A	uc003bkv.3	-	28	4631	c.4525A>T	c.(4525-4527)AGG>TGG	p.R1509W	PLXNB2_uc003bkt.1_Missense_Mutation_p.R301W|PLXNB2_uc003bku.1_Missense_Mutation_p.R494W	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1509	Cytoplasmic (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTGTCTGGCCTGGGCCAGCAG	0.662												
TRNT1	51095	broad.mit.edu	37	3	3189636	3189636	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:3189636A>G	uc003bpp.3	+	8	1205	c.1103A>G	c.(1102-1104)TAC>TGC	p.Y368C	TRNT1_uc010hbv.2_Missense_Mutation_p.Y348C|TRNT1_uc003bpm.2_RNA	NM_182916	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	368					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding				0				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		CTACTGAAGTACCAAGGAGAG	0.428												
GRM7	2917	broad.mit.edu	37	3	6903533	6903533	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:6903533T>C	uc003bqm.2	+	1	732	c.458T>C	c.(457-459)GTG>GCG	p.V153A	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.V153A|GRM7_uc003bql.2_Missense_Mutation_p.V153A	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	153	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	GTAGTTGGAGTGATTGGGGCT	0.607												
GRM7	2917	broad.mit.edu	37	3	7621037	7621037	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:7621037C>T	uc003bqm.2	+	8	2718	c.2444C>T	c.(2443-2445)GCG>GTG	p.A815V	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.A815V|GRM7_uc003bql.2_Missense_Mutation_p.A815V|GRM7_uc003bqn.1_Missense_Mutation_p.A398V|GRM7_uc010hch.1_Missense_Mutation_p.A326V	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	815	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	GCTCAATCAGCGGAAAAGGTA	0.333												
SETD5	55209	broad.mit.edu	37	3	9488921	9488921	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:9488921T>G	uc003brt.2	+	14	2147	c.1712T>G	c.(1711-1713)GTT>GGT	p.V571G	SETD5_uc003brs.1_Missense_Mutation_p.V552G|SETD5_uc003bru.2_Missense_Mutation_p.V473G|SETD5_uc003brv.2_Missense_Mutation_p.V460G|SETD5_uc010hck.2_Missense_Mutation_p.V53G|SETD5_uc003brx.2_Missense_Mutation_p.V240G	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	571										ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGCAACTCTGTTTCAAATGTT	0.463												
SLC6A1	6529	broad.mit.edu	37	3	11059010	11059010	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:11059010C>T	uc010hdq.2	+	3	524	c.113C>T	c.(112-114)GCG>GTG	p.A38V		NM_003042	NP_003033	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter	38	Cytoplasmic (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)|skin(1)	2		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CAGAAGAAGGCGGCAGACCTC	0.642												
ATG7	10533	broad.mit.edu	37	3	11389392	11389392	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:11389392G>T	uc003bwc.2	+	12	1284	c.1167G>T	c.(1165-1167)AAG>AAT	p.K389N	ATG7_uc003bwd.2_Missense_Mutation_p.K389N|ATG7_uc011aum.1_Missense_Mutation_p.K350N	NM_006395	NP_006386	O95352	ATG7_HUMAN	APG7 autophagy 7-like isoform a	389					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)	1						ACAATGCCAAGATCTCCTACT	0.527												
CAND2	23066	broad.mit.edu	37	3	12858373	12858373	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:12858373C>T	uc003bxk.2	+	10	1991	c.1942C>T	c.(1942-1944)CCC>TCC	p.P648S	CAND2_uc003bxj.2_Missense_Mutation_p.P555S	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	648	HEAT 14.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						TGACCTACAGCCCATCCTGGC	0.647												
TMEM43	79188	broad.mit.edu	37	3	14175298	14175298	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:14175298T>C	uc003byk.2	+	7	826	c.572T>C	c.(571-573)TTC>TCC	p.F191S	TMEM43_uc003byl.1_Missense_Mutation_p.F71S	NM_024334	NP_077310	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	191	Lumenal (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane				ovary(1)	1						GGCAGGTTTTTCCTCTCGTCA	0.592												
SATB1	6304	broad.mit.edu	37	3	18391030	18391030	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:18391030G>A	uc003cbh.2	-	11	3659	c.1924C>T	c.(1924-1926)CGA>TGA	p.R642*	SATB1_uc003cbi.2_Nonsense_Mutation_p.R674*|SATB1_uc003cbj.2_Nonsense_Mutation_p.R642*	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	642					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						GTCTTCTGTCGGTTTTCCTCA	0.597												
SATB1	6304	broad.mit.edu	37	3	18436246	18436246	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:18436246G>T	uc003cbh.2	-	7	2649	c.914C>A	c.(913-915)CCT>CAT	p.P305H	SATB1_uc003cbi.2_Missense_Mutation_p.P305H|SATB1_uc003cbj.2_Missense_Mutation_p.P305H	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	305					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						TACGAGCCCAGGGTGCAGGTT	0.572												
SGOL1	151648	broad.mit.edu	37	3	20225109	20225109	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:20225109T>C	uc003cbs.2	-	3	517	c.330A>G	c.(328-330)GAA>GAG	p.E110E	SGOL1_uc003cbr.2_Silent_p.E110E|SGOL1_uc010hfa.2_Silent_p.E110E|SGOL1_uc003cbt.2_Silent_p.E110E|SGOL1_uc003cbu.2_Silent_p.E110E|SGOL1_uc003cbv.2_Silent_p.E110E|SGOL1_uc003cbw.2_Silent_p.E110E|SGOL1_uc003cbx.2_Silent_p.E110E|SGOL1_uc003cby.2_Silent_p.E110E|SGOL1_uc003cbz.2_Silent_p.E110E|SGOL1_uc003cca.2_Silent_p.E110E|SGOL1_uc003ccb.2_Silent_p.E110E|SGOL1_uc003ccc.2_Silent_p.E110E	NM_001012410	NP_001012410	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 isoform A2	110	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding				0						CCTGAGCAGGTTCTACTGTTT	0.323												
RBMS3	27303	broad.mit.edu	37	3	29781233	29781233	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:29781233A>G	uc003cel.2	+	5	652	c.422A>G	c.(421-423)AAC>AGC	p.N141S	RBMS3_uc003cek.2_Missense_Mutation_p.N141S|RBMS3_uc010hfq.2_Missense_Mutation_p.N141S|RBMS3_uc003cem.2_Missense_Mutation_p.N140S|RBMS3_uc010hfr.2_Missense_Mutation_p.N141S	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting	141	RRM 2.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)	1		Ovarian(412;0.0956)				GACCCAACAAACCTATACATC	0.368												
TRIM71	131405	broad.mit.edu	37	3	32915308	32915308	+	Splice_Site	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:32915308A>G	uc003cff.2	+	2	916	c.853_splice	c.e2-2	p.V285_splice		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71						multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						TCTTGTCCCCAGGTGCTGCAC	0.592												
STAC	6769	broad.mit.edu	37	3	36484874	36484874	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:36484874T>G	uc003cgh.1	+	2	169	c.130T>G	c.(130-132)TCA>GCA	p.S44A	STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Missense_Mutation_p.S44A	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	44					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			skin(2)|ovary(1)|pancreas(1)	4						ACTAAAACGATCACTTTCTTT	0.473												
STAC	6769	broad.mit.edu	37	3	36484922	36484922	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:36484922T>G	uc003cgh.1	+	2	217	c.178T>G	c.(178-180)TTC>GTC	p.F60V	STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Missense_Mutation_p.F60V	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	60					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			skin(2)|ovary(1)|pancreas(1)	4						TGCTGACAACTTCTTCCAGCG	0.498												
DLEC1	9940	broad.mit.edu	37	3	38163883	38163883	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:38163883A>G	uc003cho.1	+	37	5269	c.5248A>G	c.(5248-5250)ATG>GTG	p.M1750V	DLEC1_uc003chp.1_Silent_p.T1708T|DLEC1_uc010hgv.1_Missense_Mutation_p.M1753V|DLEC1_uc003chr.1_Missense_Mutation_p.M821V|DLEC1_uc003chs.1_Silent_p.T265T	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	1750					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TGAGAGATACATGTTGCCTCA	0.602												
SLC22A14	9389	broad.mit.edu	37	3	38357177	38357177	+	Missense_Mutation	SNP	G	G	A	rs114657493	by1000genomes	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:38357177G>A	uc010hhc.1	+	9	1549	c.1507G>A	c.(1507-1509)GCT>ACT	p.A503T	SLC22A14_uc003cib.2_Missense_Mutation_p.A503T|SLC22A14_uc011ayo.1_RNA	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	organic cation transporter like 4	503	Helical; (Potential).					integral to plasma membrane	organic cation transmembrane transporter activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CCTCTACACCGCTGAGCTCCT	0.572												
SCN5A	6331	broad.mit.edu	37	3	38651314	38651314	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:38651314C>T	uc003cio.2	-	7	1039	c.845G>A	c.(844-846)CGC>CAC	p.R282H	SCN5A_uc003cin.2_Missense_Mutation_p.R282H|SCN5A_uc003cil.3_Missense_Mutation_p.R282H|SCN5A_uc010hhi.2_Missense_Mutation_p.R282H|SCN5A_uc010hhk.2_Missense_Mutation_p.R282H|SCN5A_uc011ayr.1_Missense_Mutation_p.R282H|SCN5A_uc010hhl.1_Missense_Mutation_p.R105H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	282			R -> H (in BRS1).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGTGAAGTTGCGCACGCACTT	0.587												
SCN11A	11280	broad.mit.edu	37	3	38888742	38888742	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:38888742A>C	uc011ays.1	-	26	5018	c.4819T>G	c.(4819-4821)TTC>GTC	p.F1607V		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1607					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCTGTATTGAAGTTCTCTAAA	0.408												
SCN11A	11280	broad.mit.edu	37	3	38962583	38962583	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:38962583A>G	uc011ays.1	-	6	1075	c.876T>C	c.(874-876)AGT>AGC	p.S292S		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	292	I.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CTTCCGGGTTACTGATATTTT	0.448												
XIRP1	165904	broad.mit.edu	37	3	39230437	39230437	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:39230437T>G	uc003cjk.1	-	2	721	c.500A>C	c.(499-501)GAG>GCG	p.E167A	XIRP1_uc003cji.2_Missense_Mutation_p.E167A|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	167							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCCTGTCAGCTCGTCCAGTGG	0.622												
ULK4	54986	broad.mit.edu	37	3	41746635	41746635	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:41746635C>T	uc003ckv.3	-	27	2896	c.2695G>A	c.(2695-2697)GCA>ACA	p.A899T		NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	899							ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCTTCTGATGCTGTCAGTCCT	0.333												
SEC22C	9117	broad.mit.edu	37	3	42594846	42594846	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:42594846A>G	uc003clj.2	-	7	924	c.806T>C	c.(805-807)CTG>CCG	p.L269P	SEC22C_uc003clh.2_Intron|SEC22C_uc011azo.1_Intron|SEC22C_uc010hic.2_Intron|SEC22C_uc003cli.2_Intron	NM_032970	NP_116752	Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C	269	Helical; (Potential).				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.222)		GAGGTTCCTCAGCCCGTGCAG	0.468												
ZBTB47	92999	broad.mit.edu	37	3	42700986	42700986	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:42700986G>T	uc003clu.1	+	1	113	c.11G>T	c.(10-12)CGG>CTG	p.R4L		NM_145166	NP_660149	Q9UFB7	ZBT47_HUMAN	zinc finger protein 651	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.216)		ATGGCCACACGGTCCCGGGAG	0.627												
LTF	4057	broad.mit.edu	37	3	46497793	46497793	+	Silent	SNP	G	G	A	rs145234336		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:46497793G>A	uc003cpq.2	-	3	341	c.303C>T	c.(301-303)TAC>TAT	p.Y101Y	LTF_uc003fzr.2_Silent_p.Y57Y|LTF_uc010hjh.2_Silent_p.Y101Y|LTF_uc003cpr.2_Silent_p.Y88Y	NM_002343	NP_002334	P02788	TRFL_HUMAN	lactotransferrin precursor	101	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			central_nervous_system(2)|ovary(1)|lung(1)	4				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	TTTCGGTCCCGTAGACTTCCG	0.592												
NBEAL2	23218	broad.mit.edu	37	3	47030358	47030358	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:47030358C>T	uc003cqp.2	+	3	346	c.167C>T	c.(166-168)CCG>CTG	p.P56L	NBEAL2_uc003cqq.1_Missense_Mutation_p.P49L	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	56							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)		GCAGAGGTCCCGCTGCTACCA	0.612												
UQCRC1	7384	broad.mit.edu	37	3	48638477	48638477	+	Silent	SNP	C	C	T	rs141289289		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:48638477C>T	uc003cub.1	-	8	942	c.897G>A	c.(895-897)CCG>CCA	p.P299P	UQCRC1_uc003cua.1_Silent_p.P184P|UQCRC1_uc003cuc.1_Silent_p.P300P|UQCRC1_uc003cud.1_Silent_p.P299P	NM_003365	NP_003356	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	299					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	CCACATTGTCCGGGCTGGCCC	0.592												
USP19	10869	broad.mit.edu	37	3	49149205	49149205	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:49149205C>T	uc003cwd.1	-	20	2797	c.2636G>A	c.(2635-2637)CGC>CAC	p.R879H	USP19_uc003cwa.2_Missense_Mutation_p.R687H|USP19_uc003cvz.3_Missense_Mutation_p.R982H|USP19_uc011bcg.1_Missense_Mutation_p.R970H|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Missense_Mutation_p.R637H|USP19_uc011bch.1_Missense_Mutation_p.R980H	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	879	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAAGGCCATGCGGCCTGGCTG	0.597												
LAMB2	3913	broad.mit.edu	37	3	49168877	49168877	+	Splice_Site	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:49168877T>C	uc003cwe.2	-	6	948	c.649_splice	c.e6-1	p.V217_splice	LAMB2_uc003cwf.1_Splice_Site_p.V217_splice	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor						cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATAGATGACCTGGAGAAGCAG	0.597												
MON1A	84315	broad.mit.edu	37	3	49949267	49949267	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:49949267G>A	uc003cxz.2	-	3	722	c.596C>T	c.(595-597)ACG>ATG	p.T199M	MON1A_uc003cya.2_Intron|MON1A_uc003cyb.2_Intron	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN	MON1 homolog A isoform a	102							protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGCCACACCCGTCAGCTGGGT	0.662												
SEMA3F	6405	broad.mit.edu	37	3	50211525	50211525	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:50211525T>C	uc003cyj.2	+	4	512	c.314T>C	c.(313-315)GTG>GCG	p.V105A	SEMA3F_uc003cyk.2_Missense_Mutation_p.V105A	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	105	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GAGGAATGCGTGCTCTCAGGC	0.632												
SEMA3F	6405	broad.mit.edu	37	3	50219807	50219807	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:50219807C>T	uc003cyj.2	+	8	932	c.734C>T	c.(733-735)ACG>ATG	p.T245M	SEMA3F_uc003cyk.2_Missense_Mutation_p.T214M	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	245	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GCCATGCGCACGGATCAGTAC	0.567												
GNAI2	2771	broad.mit.edu	37	3	50289879	50289879	+	Missense_Mutation	SNP	C	C	T	rs138213627		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:50289879C>T	uc003cyq.1	+	3	333	c.212C>T	c.(211-213)GCG>GTG	p.A71V	GNAI2_uc003cyo.1_Missense_Mutation_p.A55V|GNAI2_uc003cyp.1_Missense_Mutation_p.A55V|GNAI2_uc010hlg.1_5'UTR|GNAI2_uc011bdn.1_Missense_Mutation_p.A34V|GNAI2_uc003cyr.1_5'UTR	NM_002070	NP_002061	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein),	71					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		CAGTACCGGGCGGTTGTCTAC	0.587												
CACNA2D2	9254	broad.mit.edu	37	3	50418494	50418494	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:50418494C>T	uc003daq.2	-	7	754	c.716G>A	c.(715-717)CGC>CAC	p.R239H	CACNA2D2_uc003dap.2_Missense_Mutation_p.R239H	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha	239	Extracellular (Potential).				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GTCTTGTCTGCGGTTTTCCAT	0.617												
RAD54L2	23132	broad.mit.edu	37	3	51669660	51669660	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:51669660C>T	uc011bdt.1	+	9	1319	c.1194C>T	c.(1192-1194)GGC>GGT	p.G398G	RAD54L2_uc003dbh.2_5'UTR|RAD54L2_uc011bdu.1_Silent_p.G92G|RAD54L2_uc003dbj.2_5'UTR	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	398	Helicase ATP-binding.					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)		CAGAGGGTGGCGTGCTGCTGA	0.473												
PCBP4	57060	broad.mit.edu	37	3	51994571	51994571	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:51994571C>T	uc003dcd.1	-	4	622	c.226G>A	c.(226-228)GTC>ATC	p.V76I	PCBP4_uc003dcb.1_Missense_Mutation_p.V42I|PCBP4_uc003dcc.1_Missense_Mutation_p.V42I|PCBP4_uc003dce.1_Missense_Mutation_p.V76I|PCBP4_uc003dcf.1_Missense_Mutation_p.V76I|PCBP4_uc003dcg.1_Missense_Mutation_p.V42I|PCBP4_uc003dch.1_Missense_Mutation_p.V76I|PCBP4_uc003dci.1_5'UTR|PCBP4_uc003dcj.1_Missense_Mutation_p.V76I|PCBP4_uc003dck.1_Missense_Mutation_p.V76I|PCBP4_uc003dcl.1_Missense_Mutation_p.V76I	NM_033010	NP_127503	P57723	PCBP4_HUMAN	poly(rC) binding protein 4 isoform c	76						cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATCATGGAGACTGCATGGAAG	0.572												
ABHD14B	84836	broad.mit.edu	37	3	52004061	52004061	+	Silent	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:52004061G>T	uc003dcm.2	-	3	1239	c.351C>A	c.(349-351)TCC>TCA	p.S117S	PCBP4_uc003dch.1_5'Flank|PCBP4_uc003dci.1_5'Flank|PCBP4_uc003dcj.1_5'Flank|PCBP4_uc003dck.1_5'Flank|ABHD14B_uc010hly.2_Intron|ABHD14B_uc011bdy.1_Silent_p.S117S|ABHD14B_uc003dcn.2_Silent_p.S117S|ABHD14B_uc011bdz.1_Silent_p.S117S	NM_032750	NP_116139	Q96IU4	ABHEB_HUMAN	abhydrolase domain containing 14B	117						cytoplasm|nucleus	hydrolase activity				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000548)|KIRC - Kidney renal clear cell carcinoma(197;0.00072)		GGAAGGGCAGGGAGTACATGC	0.627												
ALAS1	211	broad.mit.edu	37	3	52245348	52245348	+	Silent	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:52245348G>T	uc003dcy.1	+	10	1717	c.1380G>T	c.(1378-1380)CTG>CTT	p.L460L	ALAS1_uc003dcz.1_Silent_p.L460L|ALAS1_uc011bec.1_Silent_p.L477L	NM_000688	NP_000679	P13196	HEM1_HUMAN	5-aminolevulinate synthase 1 precursor	460					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(2)|upper_aerodigestive_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CGAGTTCTCTGATTGACACCG	0.522												
DNAH1	25981	broad.mit.edu	37	3	52379598	52379598	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:52379598C>T	uc011bef.1	+	10	1793	c.1532C>T	c.(1531-1533)ACG>ATG	p.T511M	DNAH1_uc003ddt.1_Missense_Mutation_p.T511M	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	511	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAGGTCATCACGGCCCTCAGC	0.592												
CACNA1D	776	broad.mit.edu	37	3	53781379	53781379	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:53781379G>A	uc003dgv.3	+	26	3381	c.3218G>A	c.(3217-3219)CGT>CAT	p.R1073H	CACNA1D_uc003dgu.3_Missense_Mutation_p.R1093H|CACNA1D_uc003dgy.3_Missense_Mutation_p.R1073H|CACNA1D_uc003dgw.3_Missense_Mutation_p.R740H|CACNA1D_uc003dgx.1_Missense_Mutation_p.R221H	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1073	Extracellular (Potential).|III.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CCTGTGGTCCGTGAACGGATC	0.527												
FLNB	2317	broad.mit.edu	37	3	58134519	58134519	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:58134519G>A	uc003djj.2	+	36	6196	c.6031G>A	c.(6031-6033)GGC>AGC	p.G2011S	FLNB_uc010hne.2_Missense_Mutation_p.G2042S|FLNB_uc003djk.2_Missense_Mutation_p.G2000S|FLNB_uc010hnf.2_Missense_Mutation_p.G1987S|FLNB_uc003djl.2_Missense_Mutation_p.G1831S|FLNB_uc003djm.2_Missense_Mutation_p.G1818S|FLNB_uc010hng.1_5'Flank	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	2011	Filamin 19.|Interaction with the cytoplasmic tail of GP1BA.				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)		CTATGGCCGCGGCCTGTCAGA	0.582												
PDHB	5162	broad.mit.edu	37	3	58414198	58414198	+	Splice_Site	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:58414198A>G	uc003dkf.3	-	9	963	c.934_splice	c.e9+1	p.G312_splice	PDHB_uc003dke.3_Splice_Site_p.G270_splice|PDHB_uc003dkg.3_Splice_Site_p.G294_splice|PDHB_uc010hnl.2_Silent_p.G294G|PDHB_uc011bff.1_Splice_Site_p.G294_splice	NM_000925	NP_000916	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta						glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	NADH(DB00157)|Pyruvic acid(DB00119)	TCTTTGAAATACCTTCCATGA	0.418												
LMOD3	56203	broad.mit.edu	37	3	69168508	69168508	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:69168508C>T	uc003dns.2	-	2	1207	c.998G>A	c.(997-999)TGT>TAT	p.C333Y	LMOD3_uc003dnt.2_Missense_Mutation_p.C333Y	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	333						cytoplasm|cytoskeleton	tropomyosin binding			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		AAACTGGAGACACCTCATGAT	0.453												
LMOD3	56203	broad.mit.edu	37	3	69171477	69171477	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:69171477C>T	uc003dns.2	-	1	270	c.61G>A	c.(61-63)GAT>AAT	p.D21N	LMOD3_uc003dnt.2_Missense_Mutation_p.D21N	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	21	Potential.					cytoplasm|cytoskeleton	tropomyosin binding			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		AAGATTTCATCTTCATTAATC	0.393												
ROBO1	6091	broad.mit.edu	37	3	79174622	79174622	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:79174622A>C	uc003dqe.2	-	3	364	c.156T>G	c.(154-156)AAT>AAG	p.N52K		NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	52	Extracellular (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AGCCCAGCGAATTGTCATCGT	0.493												
NFKBIZ	64332	broad.mit.edu	37	3	101575980	101575980	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:101575980C>T	uc003dvp.2	+	10	2003	c.1888C>T	c.(1888-1890)CGC>TGC	p.R630C	NFKBIZ_uc003dvo.2_Missense_Mutation_p.R530C|NFKBIZ_uc010hpo.2_Missense_Mutation_p.R530C|NFKBIZ_uc003dvq.2_Missense_Mutation_p.R508C	NM_031419	NP_113607	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene	630	Interaction with NFKB1/p50 (By similarity).|ANK 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(2)	2						GGAACTCATTCGCCTCTTTTT	0.463												
ZPLD1	131368	broad.mit.edu	37	3	102171933	102171933	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:102171933A>T	uc003dvs.1	+	10	1159	c.277A>T	c.(277-279)ATT>TTT	p.I93F	ZPLD1_uc003dvt.1_Missense_Mutation_p.I109F|ZPLD1_uc011bhg.1_Missense_Mutation_p.I93F	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	93	ZP.|Extracellular (Potential).					integral to membrane				ovary(2)|skin(2)|central_nervous_system(1)	5						AGCAGTGGTCATTTTTATCAT	0.453												
MYH15	22989	broad.mit.edu	37	3	108220600	108220600	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:108220600G>A	uc003dxa.1	-	4	415	c.358C>T	c.(358-360)CTG>TTG	p.L120L		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	120	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						AGGGTATGCAGCACGGATGCC	0.463												
WDR52	55779	broad.mit.edu	37	3	113128021	113128021	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:113128021T>G	uc003eae.1	-	7	868	c.822A>C	c.(820-822)GAA>GAC	p.E274D		NM_018338	NP_060808	Q96MT7	WDR52_HUMAN	WD repeat domain 52 isoform 2	274	WD 2.									central_nervous_system(1)	1						CCTTAAAAACTTCCTGAGAAA	0.438												
SIDT1	54847	broad.mit.edu	37	3	113327350	113327350	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:113327350C>T	uc003eak.2	+	17	2338	c.1687C>T	c.(1687-1689)CAT>TAT	p.H563Y	SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.H563Y|SIDT1_uc011big.1_Missense_Mutation_p.H316Y|SIDT1_uc011bih.1_RNA|SIDT1_uc011bii.1_Missense_Mutation_p.H16Y	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	563	Extracellular (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						TGCTTGCTACCATGTCTGCCC	0.428												
GOLGB1	2804	broad.mit.edu	37	3	121416792	121416792	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:121416792T>A	uc003eei.3	-	13	2689	c.2563A>T	c.(2563-2565)AGG>TGG	p.R855W	GOLGB1_uc010hrc.2_Missense_Mutation_p.R860W|GOLGB1_uc003eej.3_Missense_Mutation_p.R821W|GOLGB1_uc011bjm.1_Missense_Mutation_p.R741W|GOLGB1_uc010hrd.1_Missense_Mutation_p.R819W	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	855	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		GAGATATGCCTTACACGTTCT	0.433												
HSPBAP1	79663	broad.mit.edu	37	3	122474162	122474162	+	Missense_Mutation	SNP	C	C	T	rs115965208	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:122474162C>T	uc003efu.1	-	5	809	c.686G>A	c.(685-687)CGT>CAT	p.R229H	HSPBAP1_uc003efv.1_3'UTR	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN	Hspb associated protein 1	229	JmjC.					cytoplasm				ovary(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.0531)		CTGAGGAAAACGCTTTAAATC	0.418												
KALRN	8997	broad.mit.edu	37	3	124351289	124351289	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:124351289C>T	uc003ehg.2	+	35	5326	c.5199C>T	c.(5197-5199)AGC>AGT	p.S1733S	KALRN_uc003ehi.2_Silent_p.S106S|KALRN_uc003ehk.2_Silent_p.S36S|KALRN_uc003ehj.2_Silent_p.S36S	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1733					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						ATTCCTCAAGCGAGAATGGAG	0.592												
KALRN	8997	broad.mit.edu	37	3	124413236	124413236	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:124413236T>C	uc003ehg.2	+	53	7590	c.7463T>C	c.(7462-7464)GTG>GCG	p.V2488A	KALRN_uc003ehk.2_Missense_Mutation_p.V791A	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2487	Ig-like C2-type.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GGGGACACAGTGATACTGCAG	0.493												
ALDH1L1	10840	broad.mit.edu	37	3	125824741	125824741	+	Silent	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:125824741G>T	uc003eim.1	-	22	2671	c.2481C>A	c.(2479-2481)GCC>GCA	p.A827A	ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Silent_p.A726A|ALDH1L1_uc003ein.1_Silent_p.A362A	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	827	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCGTGGCATTGGCCCGAGACA	0.592												
CHST13	166012	broad.mit.edu	37	3	126261003	126261003	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:126261003G>A	uc003eja.2	+	3	608	c.608G>A	c.(607-609)CGC>CAC	p.R203H		NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN	carbohydrate sulfotransferase 13	203	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.151)		TACGGTGCACGCATCGTTCAG	0.552												
PODXL2	50512	broad.mit.edu	37	3	127379771	127379771	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:127379771C>T	uc003ejq.2	+	3	924	c.900C>T	c.(898-900)CAC>CAT	p.H300H		NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2 precursor	300	Extracellular (Potential).				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			ovary(1)|central_nervous_system(1)	2						CTGGCCAGCACGAGGAGGTGC	0.612												
RPN1	6184	broad.mit.edu	37	3	128344441	128344441	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:128344441G>A	uc003ekr.1	-	8	1407	c.1331C>T	c.(1330-1332)GCG>GTG	p.A444V	RPN1_uc011bkq.1_Missense_Mutation_p.A272V	NM_002950	NP_002941	P04843	RPN1_HUMAN	ribophorin I precursor	444	Helical; (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(114;0.189)		GTAGAAGGCCGCCACCACCAG	0.542			T	EVI1	AML							
IFT122	55764	broad.mit.edu	37	3	129231177	129231177	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:129231177G>A	uc003emm.2	+	24	3115	c.2909G>A	c.(2908-2910)CGT>CAT	p.R970H	IFT122_uc003eml.2_Missense_Mutation_p.R1021H|IFT122_uc003emn.2_Missense_Mutation_p.R911H|IFT122_uc003emo.2_Missense_Mutation_p.R860H|IFT122_uc003emp.2_Missense_Mutation_p.R820H|IFT122_uc010htc.2_Missense_Mutation_p.R963H|IFT122_uc011bky.1_Missense_Mutation_p.R761H|IFT122_uc003emq.2_Missense_Mutation_p.R810H|IFT122_uc003emr.2_Missense_Mutation_p.R723H|IFT122_uc011bla.1_Missense_Mutation_p.R744H|IFT122_uc010hte.2_Missense_Mutation_p.R296H|IFT122_uc003ems.2_Missense_Mutation_p.R352H|IFT122_uc011bkx.1_Missense_Mutation_p.R811H	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	970					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2						AGTGTCCATCGTCCTGAAACT	0.517												
EPHB1	2047	broad.mit.edu	37	3	134920469	134920469	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:134920469G>A	uc003eqt.2	+	12	2504	c.2284G>A	c.(2284-2286)GAC>AAC	p.D762N	EPHB1_uc003equ.2_Missense_Mutation_p.D323N	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	762	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						CAAGGTGTCCGACTTTGGCCT	0.537												
EPHB1	2047	broad.mit.edu	37	3	134967254	134967254	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:134967254C>T	uc003eqt.2	+	14	2813	c.2593C>T	c.(2593-2595)CGG>TGG	p.R865W	EPHB1_uc003equ.2_Missense_Mutation_p.R426W	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	865	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						GCAGAAGGACCGGAACAGCCG	0.592												
ATP1B3	483	broad.mit.edu	37	3	141622486	141622486	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:141622486T>C	uc003eug.1	+	2	308	c.134T>C	c.(133-135)GTT>GCT	p.V45A	ATP1B3_uc011bne.1_RNA|ATP1B3_uc003euh.1_Missense_Mutation_p.V31A	NM_001679	NP_001670	P54709	AT1B3_HUMAN	Na+/K+ -ATPase beta 3 subunit	45	Helical; Signal-anchor for type II membrane protein; (Potential).				ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity				0						TTCTACCTAGTTTTTTATGGG	0.418												
PLSCR1	5359	broad.mit.edu	37	3	146246494	146246494	+	Silent	SNP	T	T	C	rs147509085	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:146246494T>C	uc003evx.3	-	4	607	c.219A>G	c.(217-219)GTA>GTG	p.V73V	PLSCR1_uc003evy.3_Silent_p.V66V|PLSCR1_uc011bnn.1_Intron|PLSCR1_uc003evz.3_Intron|PLSCR1_uc003ewa.2_Silent_p.V73V	NM_021105	NP_066928	O15162	PLS1_HUMAN	phospholipid scramblase 1	73	Cytoplasmic.				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			ovary(2)	2						GCTGATTATATACTGGCTGAT	0.537												
ZIC4	84107	broad.mit.edu	37	3	147108745	147108745	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:147108745G>A	uc003ewd.1	-	4	1250	c.977C>T	c.(976-978)GCG>GTG	p.A326V	ZIC4_uc003ewc.1_Missense_Mutation_p.A256V|ZIC4_uc011bno.1_Missense_Mutation_p.A376V	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	326						nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						GGTACGCGCCGCCACCGCCGC	0.706												
MED12L	116931	broad.mit.edu	37	3	151082912	151082912	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:151082912C>A	uc003eyp.2	+	20	3036	c.2998C>A	c.(2998-3000)CTC>ATC	p.L1000I	MED12L_uc011bnz.1_Missense_Mutation_p.L860I|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.L163I	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1000					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGGCAAGATCCTCAGTGACAA	0.493												
PLCH1	23007	broad.mit.edu	37	3	155210547	155210547	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:155210547G>C	uc011bok.1	-	17	2519	c.2242C>G	c.(2242-2244)CCA>GCA	p.P748A	PLCH1_uc011boj.1_Missense_Mutation_p.P748A|PLCH1_uc011bol.1_Missense_Mutation_p.P730A	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	748	C2.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATGGAGTCTGGAGGTTTGGGG	0.453												
VEPH1	79674	broad.mit.edu	37	3	157004431	157004431	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:157004431T>G	uc003fbj.1	-	12	2360	c.2043A>C	c.(2041-2043)GAA>GAC	p.E681D	VEPH1_uc003fbk.1_Missense_Mutation_p.E681D|VEPH1_uc010hvu.1_Missense_Mutation_p.E636D	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	681						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGAACCTCACTTCTTCCAGAT	0.483												
SMC4	10051	broad.mit.edu	37	3	160135634	160135634	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:160135634A>G	uc003fdh.2	+	11	1674	c.1561A>G	c.(1561-1563)ACT>GCT	p.T521A	IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.T285A|SMC4_uc003fdi.2_Missense_Mutation_p.T496A|SMC4_uc003fdj.2_Missense_Mutation_p.T521A|SMC4_uc010hwd.2_Missense_Mutation_p.T521A|SMC4_uc003fdl.2_Missense_Mutation_p.T224A	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	521	Potential.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTCTCAATTAACTAAGGCTAA	0.398												
GOLIM4	27333	broad.mit.edu	37	3	167745560	167745560	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:167745560G>A	uc003ffe.2	-	12	1923	c.1579C>T	c.(1579-1581)CGT>TGT	p.R527C	GOLIM4_uc011bpe.1_Missense_Mutation_p.R528C|GOLIM4_uc011bpf.1_Missense_Mutation_p.R500C|GOLIM4_uc011bpg.1_Missense_Mutation_p.R499C	NM_014498	NP_055313	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	527	Glu-rich.|Lumenal (Potential).				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(4)|skin(1)	5						CCTTGTTCACGAGGCTCATGT	0.463												
LRRC31	79782	broad.mit.edu	37	3	169572672	169572672	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:169572672A>G	uc003fgc.1	-	6	997	c.920T>C	c.(919-921)GTC>GCC	p.V307A	LRRC31_uc010hwp.1_Missense_Mutation_p.V251A	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	307										ovary(2)|skin(1)	3	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CTTTAGCATGACCAACTGAGC	0.438												
CLDN11	5010	broad.mit.edu	37	3	170140971	170140971	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:170140971G>A	uc003fgx.2	+	2	449	c.247G>A	c.(247-249)GCC>ACC	p.A83T	CLDN11_uc011bpt.1_Missense_Mutation_p.A83T|CLDN11_uc003fgy.2_5'UTR	NM_005602	NP_005593	O75508	CLD11_HUMAN	claudin 11	83	Helical; (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			central_nervous_system(1)	1	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GGCCTGCCGCGCCCTGATGAT	0.597												
NLGN1	22871	broad.mit.edu	37	3	173322759	173322759	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:173322759G>A	uc003fio.1	+	3	794	c.371G>A	c.(370-372)GGC>GAC	p.G124D	NLGN1_uc010hww.1_Missense_Mutation_p.G124D|NLGN1_uc003fip.1_Missense_Mutation_p.G124D	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	124	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATCATTGATGGCAGATTGCCA	0.448												
FXR1	8087	broad.mit.edu	37	3	180688129	180688129	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:180688129T>C	uc003fkq.2	+	15	1608	c.1586T>C	c.(1585-1587)GTT>GCT	p.V529A	FXR1_uc003fkp.2_Missense_Mutation_p.V444A|FXR1_uc003fkr.2_Missense_Mutation_p.V529A|FXR1_uc011bqj.1_Missense_Mutation_p.V443A|FXR1_uc003fks.2_Missense_Mutation_p.V472A|FXR1_uc011bqk.1_Missense_Mutation_p.V480A|FXR1_uc011bql.1_Missense_Mutation_p.V516A	NM_005087	NP_005078	P51114	FXR1_HUMAN	fragile X mental retardation-related protein 1	529					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(1)	1	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			ACAGCTTCAGTTAATGAAAAT	0.333												
YEATS2	55689	broad.mit.edu	37	3	183521871	183521871	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:183521871G>A	uc003fly.2	+	27	3874	c.3679G>A	c.(3679-3681)GCT>ACT	p.A1227T	uc003fma.1_3'UTR	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1227					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CAAGCACATCGCTCACTGGTG	0.537												
ECE2	9718	broad.mit.edu	37	3	184008885	184008885	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:184008885C>T	uc003fni.3	+	17	2284	c.2246C>T	c.(2245-2247)GCA>GTA	p.A749V	ECE2_uc011brh.1_Missense_Mutation_p.A602V|ECE2_uc003fnl.3_Missense_Mutation_p.A677V|ECE2_uc003fnm.3_Missense_Mutation_p.A631V|ECE2_uc003fnk.3_Missense_Mutation_p.A602V|ECE2_uc011bri.1_Missense_Mutation_p.A664V|ECE2_uc010hxv.2_3'UTR	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	749	Lumenal (Potential).|Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)|skin(2)	4	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAGTCCCTGGCAGCCTTCCGG	0.587												
PSMD2	5708	broad.mit.edu	37	3	184022156	184022156	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:184022156G>A	uc003fnn.1	+	12	1549	c.1516G>A	c.(1516-1518)GGA>AGA	p.G506R	PSMD2_uc011brj.1_Missense_Mutation_p.G347R|PSMD2_uc011brk.1_Missense_Mutation_p.G376R	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	506	PC 3.				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|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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding				0	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GCCTGTGATGGGAGATTCAAA	0.458												
PSMD2	5708	broad.mit.edu	37	3	184025433	184025433	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:184025433G>A	uc003fnn.1	+	18	2268	c.2235G>A	c.(2233-2235)CTG>CTA	p.L745L	PSMD2_uc011brj.1_Silent_p.L586L|PSMD2_uc011brk.1_Silent_p.L615L	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	745	PC 7.				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|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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding				0	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CTGCAATGCTGCGCCAGTTAG	0.483												
EIF4G1	1981	broad.mit.edu	37	3	184040475	184040475	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:184040475T>C	uc003fnp.2	+	12	1950	c.1752T>C	c.(1750-1752)GCT>GCC	p.A584A	EIF4G1_uc003fno.1_Silent_p.A525A|EIF4G1_uc010hxw.1_Silent_p.A420A|EIF4G1_uc003fnt.2_Silent_p.A295A|EIF4G1_uc003fnq.2_Silent_p.A497A|EIF4G1_uc003fnr.2_Silent_p.A420A|EIF4G1_uc010hxx.2_Silent_p.A591A|EIF4G1_uc003fns.2_Silent_p.A544A|EIF4G1_uc010hxy.2_Silent_p.A591A|EIF4G1_uc003fnv.3_Silent_p.A584A|EIF4G1_uc003fnu.3_Silent_p.A584A|EIF4G1_uc003fnw.2_Silent_p.A591A|EIF4G1_uc003fnx.2_Silent_p.A388A|EIF4G1_uc003fny.3_Silent_p.A388A	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	584	MIF4G.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCACAATGCTGAGAACATCC	0.507												
EPHB3	2049	broad.mit.edu	37	3	184298195	184298195	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:184298195C>A	uc003foz.2	+	12	2615	c.2178C>A	c.(2176-2178)AAC>AAA	p.N726K		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	726	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TGCAGCTCAACGATGGGCAGT	0.602												
VPS8	23355	broad.mit.edu	37	3	184542471	184542471	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:184542471G>T	uc003fpb.1	+	2	222	c.51G>T	c.(49-51)AAG>AAT	p.K17N	VPS8_uc010hyd.1_Missense_Mutation_p.K17N|VPS8_uc003fpc.1_Missense_Mutation_p.K17N	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b	17							zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TCTGTGCCAAGACGAGCGAAG	0.363												
VPS8	23355	broad.mit.edu	37	3	184717545	184717545	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:184717545G>T	uc003fpb.1	+	44	4063	c.3892G>T	c.(3892-3894)GGC>TGC	p.G1298C	VPS8_uc010hyd.1_Missense_Mutation_p.G1208C|VPS8_uc010hye.1_Missense_Mutation_p.G727C	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b	1300	RING-type; atypical.						zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GGAATTTGAGGGCCAAACAAG	0.378												
C3orf70	285382	broad.mit.edu	37	3	184801181	184801181	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:184801181A>G	uc003fpd.2	-	2	558	c.367T>C	c.(367-369)TAC>CAC	p.Y123H		NM_001025266	NP_001020437	A6NLC5	CC070_HUMAN	hypothetical protein LOC285382	123											0						ATCATACAGTACCTCGGTGAG	0.458												
BCL6	604	broad.mit.edu	37	3	187451439	187451439	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:187451439C>T	uc003frp.3	-	3	500	c.43G>A	c.(43-45)GCC>ACC	p.A15T	BCL6_uc011bsf.1_Missense_Mutation_p.A15T|BCL6_uc010hza.2_5'UTR|BCL6_uc003frq.1_Missense_Mutation_p.A15T	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	B-cell lymphoma 6 protein isoform 1	15					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|lung(2)|central_nervous_system(1)	5	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		ACATCACTGGCATGGCGGGTG	0.483			T|Mis	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3	NHL|CLL							
ATP13A5	344905	broad.mit.edu	37	3	193048947	193048947	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:193048947T>G	uc011bsq.1	-	12	1426	c.1426A>C	c.(1426-1428)ATG>CTG	p.M476L		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	476					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGCCCACACATGTTGATTCTC	0.378												
OPA1	4976	broad.mit.edu	37	3	193361319	193361319	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:193361319T>C	uc003ftm.2	+	13	1449	c.1215T>C	c.(1213-1215)ACT>ACC	p.T405T	OPA1_uc003ftg.2_Silent_p.T460T|OPA1_uc003fth.2_Silent_p.T424T|OPA1_uc003fti.2_Silent_p.T442T|OPA1_uc003ftj.2_Silent_p.T423T|OPA1_uc003ftk.2_Silent_p.T406T|OPA1_uc003ftl.2_Silent_p.T387T|OPA1_uc003ftn.2_Silent_p.T369T	NM_015560	NP_056375	O60313	OPA1_HUMAN	optic atrophy 1 isoform 1	405	Mitochondrial intermembrane (By similarity).				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding				0	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TCTTTAAGACTGTGACATCAG	0.323												
CPN2	1370	broad.mit.edu	37	3	194063301	194063301	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:194063301G>A	uc003fts.2	-	2	221	c.131C>T	c.(130-132)CCA>CTA	p.P44L		NM_001080513	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	44	LRRNT.				protein stabilization	extracellular region	enzyme regulator activity			ovary(5)	5	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GATGTCCAGTGGGACGGTGGC	0.557												
TCTEX1D2	255758	broad.mit.edu	37	3	196018210	196018210	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:196018210A>G	uc003fwi.2	-	5	553	c.417T>C	c.(415-417)TGT>TGC	p.C139C		NM_152773	NP_689986	Q8WW35	TC1D2_HUMAN	Tctex1 domain containing 2	139							protein binding			ovary(1)|breast(1)	2	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		AGTAGTAGAAACAGCCAAATG	0.328												
GAK	2580	broad.mit.edu	37	4	876506	876506	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:876506G>A	uc003gbm.3	-	14	1705	c.1506C>T	c.(1504-1506)AAC>AAT	p.N502N	GAK_uc003gbn.3_Silent_p.N423N|GAK_uc010ibk.1_Silent_p.N396N|GAK_uc003gbl.3_Silent_p.N366N	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	502	Phosphatase tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		CGACGCAGACGTTCTTGTGGT	0.597												
TMEM175	84286	broad.mit.edu	37	4	951841	951841	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:951841G>T	uc003gbq.2	+	11	1170	c.1072G>T	c.(1072-1074)GCC>TCC	p.A358S	TMEM175_uc003gbr.2_Missense_Mutation_p.A276S|TMEM175_uc003gbu.2_Missense_Mutation_p.A276S|TMEM175_uc003gbs.2_Missense_Mutation_p.A241S|TMEM175_uc003gbt.2_Missense_Mutation_p.A241S|TMEM175_uc003gbv.2_Missense_Mutation_p.A241S|TMEM175_uc010ibm.2_Missense_Mutation_p.A174S	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	358	Helical; (Potential).					integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCTCCCACTAGCCTACCAGCA	0.662												
LETM1	3954	broad.mit.edu	37	4	1818606	1818606	+	Silent	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:1818606A>C	uc003gdv.2	-	12	2076	c.1779T>G	c.(1777-1779)ACT>ACG	p.T593T		NM_012318	NP_036450	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane	593	Mitochondrial matrix (Potential).|Potential.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			central_nervous_system(1)	1			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TTTCTTCACCAGTCTTTGAAA	0.368												
WHSC1	7468	broad.mit.edu	37	4	1955098	1955098	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:1955098C>T	uc003gdz.3	+	12	2361	c.2185C>T	c.(2185-2187)CGC>TGC	p.R729C	WHSC1_uc003geb.3_Missense_Mutation_p.R729C|WHSC1_uc003gec.3_Missense_Mutation_p.R729C|WHSC1_uc003ged.3_Missense_Mutation_p.R729C|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_5'UTR|WHSC1_uc011bvh.1_5'UTR|WHSC1_uc010icf.2_Missense_Mutation_p.R77C	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	729	PHD-type 2.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AGATGTTAAGCGCTGTGTGGT	0.438			T	IGH@	MM							
HTT	3064	broad.mit.edu	37	4	3107097	3107097	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:3107097G>A	uc011bvq.1	+	6	693	c.548G>A	c.(547-549)CGG>CAG	p.R183Q		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	181					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GGTGCCCCTCGGAGTTTGCGT	0.502												
EVC	2121	broad.mit.edu	37	4	5754612	5754612	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:5754612A>G	uc003gil.1	+	9	1332	c.1148A>G	c.(1147-1149)GAG>GGG	p.E383G	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	383					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				AAAGTGATTGAGTTTCTGAAG	0.622												
CRMP1	1400	broad.mit.edu	37	4	5837754	5837754	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:5837754T>G	uc003gip.2	-	12	1270	c.1169A>C	c.(1168-1170)AAG>ACG	p.K390T	CRMP1_uc003gin.1_Missense_Mutation_p.K302T|CRMP1_uc003giq.2_Missense_Mutation_p.K390T|CRMP1_uc003gir.2_Missense_Mutation_p.K385T|CRMP1_uc003gis.2_Missense_Mutation_p.K504T	NM_001313	NP_001304	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 2	390					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(2)	2				Colorectal(103;0.0721)		GTTAAAGATCTTGGCTGCATT	0.522												
CRMP1	1400	broad.mit.edu	37	4	5838618	5838618	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:5838618G>A	uc003gip.2	-	11	1085	c.984C>T	c.(982-984)GTC>GTT	p.V328V	CRMP1_uc003gin.1_Silent_p.V240V|CRMP1_uc003giq.2_Silent_p.V328V|CRMP1_uc003gir.2_Silent_p.V323V|CRMP1_uc003gis.2_Silent_p.V442V	NM_001313	NP_001304	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 2	328					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(2)	2				Colorectal(103;0.0721)		CGCTGCCTGTGACCTGCAAGT	0.552												
PSAPL1	768239	broad.mit.edu	37	4	7435678	7435678	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:7435678G>T	uc011bwj.1	-	1	1023	c.929C>A	c.(928-930)TCC>TAC	p.S310Y	SORCS2_uc003gkb.3_Intron|SORCS2_uc011bwi.1_Intron	NM_001085382	NP_001078851	Q6NUJ1	SAPL1_HUMAN	prosaposin-like protein 1	310	Saposin B-type 3.				sphingolipid metabolic process	extracellular region|lysosome					0						AGAGCTGTTGGACATGAGCCA	0.567												
SORCS2	57537	broad.mit.edu	37	4	7715973	7715973	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:7715973C>T	uc003gkb.3	+	16	1996	c.1996C>T	c.(1996-1998)CGC>TGC	p.R666C	SORCS2_uc011bwi.1_Missense_Mutation_p.R494C	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	VPS10 domain receptor protein SORCS 2 precursor	666	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(1)|central_nervous_system(1)	2						GCAGGGCGACCGCTGTATCAT	0.602												
BOD1L	259282	broad.mit.edu	37	4	13597501	13597501	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:13597501C>T	uc003gmz.1	-	12	8204	c.8087G>A	c.(8086-8088)GGA>GAA	p.G2696E		NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2696							DNA binding			ovary(5)|breast(1)	6						ACTTGGCTTTCCCCCACACAG	0.378												
BOD1L	259282	broad.mit.edu	37	4	13603668	13603668	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:13603668G>A	uc003gmz.1	-	10	4973	c.4856C>T	c.(4855-4857)GCT>GTT	p.A1619V	BOD1L_uc010idr.1_Missense_Mutation_p.A956V	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	1619							DNA binding			ovary(5)|breast(1)	6						TTCAGCCACAGCACACTCCCC	0.488												
PACRGL	133015	broad.mit.edu	37	4	20709442	20709442	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:20709442G>A	uc010iek.2	+	4	615	c.224G>A	c.(223-225)CGA>CAA	p.R75Q	PACRGL_uc003gpu.2_RNA|PACRGL_uc010iei.1_Missense_Mutation_p.R123Q|PACRGL_uc003gpz.2_Missense_Mutation_p.R75Q|PACRGL_uc011bxm.1_Intron|PACRGL_uc003gqa.2_Intron|PACRGL_uc003gpx.3_RNA|PACRGL_uc003gpv.2_Missense_Mutation_p.R75Q|PACRGL_uc003gpw.2_RNA|PACRGL_uc010iej.1_Intron|PACRGL_uc011bxn.1_Intron|PACRGL_uc003gpy.2_Intron	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like isoform 1	75							binding				0						GAACAGTCACGAGTGCCTTCT	0.348												
GPR125	166647	broad.mit.edu	37	4	22390136	22390136	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:22390136A>C	uc003gqm.1	-	19	3423	c.3158T>G	c.(3157-3159)GTT>GGT	p.V1053G	GPR125_uc010ieo.1_Missense_Mutation_p.V909G|GPR125_uc003gql.1_Missense_Mutation_p.V180G	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	1053	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)				CGCAAGTCTAACATCCTCCCT	0.488												
DHX15	1665	broad.mit.edu	37	4	24541776	24541776	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:24541776A>G	uc003gqx.2	-	10	1909	c.1741T>C	c.(1741-1743)TAC>CAC	p.Y581H	DHX15_uc003gqw.2_5'Flank	NM_001358	NP_001349	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 15	581					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)				GAACAGTTGTAGTCACAACTT	0.408												
CCDC149	91050	broad.mit.edu	37	4	24854802	24854802	+	Splice_Site	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:24854802C>A	uc011bxr.1	-	5	409	c.265_splice	c.e5-1	p.A89_splice	CCDC149_uc003grc.2_Splice_Site_p.A89_splice|CCDC149_uc003grb.2_Splice_Site|CCDC149_uc003grd.2_Splice_Site_p.A89_splice|CCDC149_uc003gre.2_Splice_Site_p.A34_splice|CCDC149_uc011bxq.1_Translation_Start_Site	NM_173463	NP_775734	B4DZG3	B4DZG3_HUMAN	coiled-coil domain containing 149 isoform 1												0		Breast(46;0.173)				CAAGATTAGCCTAGAAATATC	0.428												
ARAP2	116984	broad.mit.edu	37	4	36134893	36134893	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:36134893C>T	uc003gsq.1	-	20	3720	c.3382G>A	c.(3382-3384)GTT>ATT	p.V1128I		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1128	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						ATAATGGGAACGTCATTTTTG	0.383												
DCAF4L1	285429	broad.mit.edu	37	4	41984913	41984913	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:41984913C>T	uc003gwk.2	+	1	1201	c.1104C>T	c.(1102-1104)TTC>TTT	p.F368F		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	WD repeat domain 21B	368										skin(1)	1						GCGTGGCCTTCGCTTCTCGGC	0.607												
CORIN	10699	broad.mit.edu	37	4	47597894	47597894	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:47597894A>G	uc003gxm.2	-	22	3066	c.2973T>C	c.(2971-2973)TGT>TGC	p.C991C	CORIN_uc011bzf.1_Silent_p.C852C|CORIN_uc011bzg.1_Silent_p.C924C	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	991	Extracellular (Potential).|Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2						CAGGCTTCTCACAAACAAGAG	0.493												
FRYL	285527	broad.mit.edu	37	4	48625144	48625144	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:48625144T>C	uc003gyh.1	-	5	778	c.173A>G	c.(172-174)CAG>CGG	p.Q58R	FRYL_uc003gyk.2_Missense_Mutation_p.Q58R|FRYL_uc003gyl.1_Missense_Mutation_p.Q109R|FRYL_uc003gym.1_Missense_Mutation_p.Q58R	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						TTGTCATACCTGATCAAACTG	0.313												
PDGFRA	5156	broad.mit.edu	37	4	55129887	55129887	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:55129887G>A	uc003han.3	+	4	752	c.421G>A	c.(421-423)GAG>AAG	p.E141K	PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_Missense_Mutation_p.E141K|PDGFRA_uc010igq.1_Missense_Mutation_p.E35K|PDGFRA_uc003ham.2_RNA	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	141	Extracellular (Potential).|Ig-like C2-type 2.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AGTCATCGTGGAGGATGATGA	0.443			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)		
PDGFRA	5156	broad.mit.edu	37	4	55139866	55139866	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:55139866T>C	uc003han.3	+	10	1858	c.1527T>C	c.(1525-1527)GCT>GCC	p.A509A	PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Silent_p.A403A|PDGFRA_uc003ham.2_RNA	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	509	Ig-like C2-type 5.|Extracellular (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.A509D(1)		soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TCCTTGGAGCTGAGAACCGAG	0.582			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)		
KIT	3815	broad.mit.edu	37	4	55603434	55603434	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:55603434G>C	uc010igr.2	+	20	2877	c.2790G>C	c.(2788-2790)GAG>GAC	p.E930D	KIT_uc010igs.2_Missense_Mutation_p.E926D	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	930	Protein kinase.|Cytoplasmic (Potential).				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGATTTCAGAGAGCACCAATC	0.478		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors			
LPHN3	23284	broad.mit.edu	37	4	62761492	62761492	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:62761492T>C	uc010ihh.2	+	8	1796	c.1623T>C	c.(1621-1623)GAT>GAC	p.D541D	LPHN3_uc003hcq.3_Silent_p.D541D|LPHN3_uc003hcs.1_Silent_p.D370D	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	541	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						GAATTTGGGATCCCCAAGGTC	0.378												
C4orf40	401137	broad.mit.edu	37	4	71024227	71024227	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:71024227T>C	uc003hfa.3	+	4	331	c.258T>C	c.(256-258)TAT>TAC	p.Y86Y	C4orf40_uc003hfb.3_Silent_p.Y86Y	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	hypothetical protein LOC401137 precursor	86						extracellular region					0						GATTCCCCTATGTCTATCACA	0.483												
BTC	685	broad.mit.edu	37	4	75681147	75681147	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:75681147C>A	uc003hig.2	-	3	550	c.203G>T	c.(202-204)AGG>ATG	p.R68M		NM_001729	NP_001720	P35070	BTC_HUMAN	betacellulin precursor	68	Extracellular (Potential).|EGF-like.				positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|skin(1)	2			Lung(101;0.219)			CTTGGGGCACCTAGAGAAGTG	0.458												
NAA11	84779	broad.mit.edu	37	4	80246728	80246728	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:80246728A>T	uc003hlt.3	-	1	444	c.304T>A	c.(304-306)TTT>ATT	p.F102I		NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	alpha-N-acetyltransferase 1B	102	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2						TTGGCGTTAAAGTTCTCTATC	0.552												
WDFY3	23001	broad.mit.edu	37	4	85600249	85600249	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:85600249T>C	uc003hpd.2	-	65	10378	c.9970A>G	c.(9970-9972)ACT>GCT	p.T3324A	WDFY3_uc003hpc.2_Missense_Mutation_p.T79A	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	3324						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CCACTGTCAGTACACCAGGCG	0.602												
PTPN13	5783	broad.mit.edu	37	4	87685814	87685814	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:87685814G>A	uc003hpz.2	+	25	4566	c.4086G>A	c.(4084-4086)AAG>AAA	p.K1362K	PTPN13_uc003hpy.2_Silent_p.K1362K|PTPN13_uc003hqa.2_Silent_p.K1343K|PTPN13_uc003hqb.2_Silent_p.K1171K	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1362				KP -> RS (in Ref. 5; CAA56124).		cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CACCTCCTAAGCCTGGAGATA	0.348												
KLHL8	57563	broad.mit.edu	37	4	88116486	88116486	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:88116486A>G	uc011cdb.1	-	2	591	c.206T>C	c.(205-207)GTC>GCC	p.V69A	KLHL8_uc003hql.1_Missense_Mutation_p.V69A|KLHL8_uc003hqm.1_Missense_Mutation_p.V69A|KLHL8_uc003hqn.1_Missense_Mutation_p.V69A|KLHL8_uc010ikj.1_5'UTR	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	kelch-like 8	69	BTB.										0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CTTGAGTGTGACATCACAGAG	0.368												
HERC5	51191	broad.mit.edu	37	4	89389505	89389505	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:89389505A>G	uc003hrt.2	+	8	1219	c.1066A>G	c.(1066-1068)ACC>GCC	p.T356A	HERC5_uc011cdm.1_Translation_Start_Site	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	356	RCC1 5.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		AGAAAGCCATACCTCAGAAAA	0.348												
UNC5C	8633	broad.mit.edu	37	4	96166150	96166150	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:96166150T>C	uc003htp.1	-	6	1075	c.921A>G	c.(919-921)ATA>ATG	p.I307M	UNC5C_uc010ilc.1_Missense_Mutation_p.I307M|UNC5C_uc003htq.2_Missense_Mutation_p.I307M	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	307	Extracellular (Potential).|TSP type-1 1.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TAGTACAGGCTATTTTCTGCA	0.463												
ADH4	127	broad.mit.edu	37	4	100052797	100052797	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:100052797T>G	uc003hun.2	-	6	777	c.701A>C	c.(700-702)AAG>ACG	p.K234T	uc003hum.1_Intron|ADH4_uc011ced.1_Missense_Mutation_p.K253T	NM_000670	NP_000661	P08319	ADH4_HUMAN	class II alcohol dehydrogenase, pi subunit	234		NAD.			alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			skin(2)	2				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	CTTCACAAACTTCTCACTGTT	0.468												
ADH1A	124	broad.mit.edu	37	4	100201419	100201419	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:100201419A>G	uc003hur.1	-	7	917	c.846T>C	c.(844-846)TGT>TGC	p.C282C	uc003hum.1_Intron|ADH1A_uc011ceg.1_Silent_p.C282C	NM_000667	NP_000658	P07327	ADH1A_HUMAN	class I alcohol dehydrogenase, alpha subunit	282					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	CCTCATGACAACATAACAGGG	0.438												
MTTP	4547	broad.mit.edu	37	4	100515985	100515985	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:100515985C>T	uc003hvc.3	+	8	1110	c.854C>T	c.(853-855)ACG>ATG	p.T285M	MTTP_uc011cej.1_Missense_Mutation_p.T312M	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	285	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TCAAAGTACACGGCCATTCCC	0.468												
TBCK	93627	broad.mit.edu	37	4	107114826	107114826	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:107114826G>A	uc010ilv.2	-	22	2364	c.1999C>T	c.(1999-2001)CGG>TGG	p.R667W	TBCK_uc003hyb.2_Missense_Mutation_p.R410W|TBCK_uc003hye.2_Missense_Mutation_p.R628W|TBCK_uc003hyc.2_Missense_Mutation_p.R604W|TBCK_uc003hyd.2_Missense_Mutation_p.R495W|TBCK_uc003hyf.2_Missense_Mutation_p.R667W	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN	TBC domain-containing protein kinase-like	667						intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						AGCCGGTCCCGCAGCTGCTGA	0.393												
LEF1	51176	broad.mit.edu	37	4	108999451	108999451	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:108999451T>A	uc003hyt.1	-	8	1588	c.933A>T	c.(931-933)AAA>AAT	p.K311N	LEF1_uc011cfj.1_Missense_Mutation_p.K168N|LEF1_uc011cfk.1_Missense_Mutation_p.K215N|LEF1_uc003hyu.1_Missense_Mutation_p.K283N|LEF1_uc003hyv.1_Missense_Mutation_p.K283N|LEF1_uc010imb.1_RNA|LEF1_uc010ima.1_Translation_Start_Site|LEF1_uc003hyw.1_RNA	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1 isoform 1	311	HMG box.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			large_intestine(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CTCTCATTTCTTTCATGTATA	0.423												
COL25A1	84570	broad.mit.edu	37	4	110223100	110223100	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:110223100G>A	uc003hze.1	-	2	607	c.76C>T	c.(76-78)CAT>TAT	p.H26Y	COL25A1_uc003hzg.2_Missense_Mutation_p.H26Y|COL25A1_uc003hzh.1_Missense_Mutation_p.H26Y	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1	26	Cytoplasmic (Potential).					collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CGGGCACAATGCTGTTCGGCA	0.672												
SEC24B	10427	broad.mit.edu	37	4	110416004	110416004	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:110416004T>C	uc003hzk.2	+	6	1535	c.1480T>C	c.(1480-1482)TAT>CAT	p.Y494H	SEC24B_uc003hzl.2_Missense_Mutation_p.Y459H|SEC24B_uc011cfp.1_Missense_Mutation_p.Y525H|SEC24B_uc011cfq.1_Missense_Mutation_p.Y494H|SEC24B_uc011cfr.1_Missense_Mutation_p.Y459H	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	494					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ATTCCAGCAGTATCCTCAAGT	0.408												
PLA2G12A	81579	broad.mit.edu	37	4	110638766	110638766	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:110638766T>A	uc003hzp.2	-	3	666	c.389A>T	c.(388-390)TAT>TTT	p.Y130F	PLA2G12A_uc010img.2_Missense_Mutation_p.Y128F	NM_030821	NP_110448	Q9BZM1	PG12A_HUMAN	phospholipase A2, group XIIA precursor	130					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity				0				OV - Ovarian serous cystadenocarcinoma(123;0.000268)		GGAGAGGCAATACTGGAATTC	0.458												
EGF	1950	broad.mit.edu	37	4	110885671	110885671	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:110885671A>T	uc003hzy.3	+	10	2005	c.1553A>T	c.(1552-1554)GAT>GTT	p.D518V	EGF_uc011cfu.1_Missense_Mutation_p.D476V|EGF_uc011cfv.1_Missense_Mutation_p.D518V	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	518	LDL-receptor class B 5.|Extracellular (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TATGCCCTAGATCATGACCCT	0.413												
ANK2	287	broad.mit.edu	37	4	114276333	114276333	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:114276333T>C	uc003ibe.3	+	38	6659	c.6559T>C	c.(6559-6561)TTC>CTC	p.F2187L	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.F2202L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2154					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAAAGATGAGTTCCTTCCAGC	0.493												
USP53	54532	broad.mit.edu	37	4	120189470	120189470	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:120189470G>C	uc003ics.3	+	13	2249	c.1183G>C	c.(1183-1185)GGA>CGA	p.G395R	USP53_uc003icr.3_Missense_Mutation_p.G395R|USP53_uc003icu.3_Missense_Mutation_p.G18R|USP53_uc003ict.2_Missense_Mutation_p.G18R	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	ubiquitin specific protease 53	395					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			ovary(1)|breast(1)|kidney(1)|skin(1)	4						AAAAGAAAATGGATTTGGTGA	0.358												
PRDM5	11107	broad.mit.edu	37	4	121774675	121774675	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:121774675T>G	uc003idn.2	-	3	448	c.198A>C	c.(196-198)GAA>GAC	p.E66D	PRDM5_uc003ido.2_Missense_Mutation_p.E66D|PRDM5_uc010ine.2_Missense_Mutation_p.E66D|PRDM5_uc010inf.2_Missense_Mutation_p.E66D|PRDM5_uc003idp.1_Missense_Mutation_p.E66D	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	66	SET.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2						TGTACAAAACTTCTCCCTTAC	0.458												
IL21	59067	broad.mit.edu	37	4	123542048	123542048	+	Missense_Mutation	SNP	C	C	T	rs141748932	by1000genomes	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:123542048C>T	uc003ies.2	-	1	164	c.119G>A	c.(118-120)CGT>CAT	p.R40H	uc003iet.2_RNA|IL21_uc010int.2_Missense_Mutation_p.R33H	NM_021803	NP_068575	Q9HBE4	IL21_HUMAN	interleukin 21	33					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding				0						TATAAGTTGACGCATTCTAAT	0.363												
ANKRD50	57182	broad.mit.edu	37	4	125591259	125591259	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:125591259A>T	uc003ifg.3	-	3	3439	c.3173T>A	c.(3172-3174)ATT>AAT	p.I1058N	ANKRD50_uc011cgo.1_Missense_Mutation_p.I879N|ANKRD50_uc010inw.2_Missense_Mutation_p.I1058N	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1058	ANK 18.									central_nervous_system(1)	1						AACAACATCAATGTGCCCTTC	0.458												
FAT4	79633	broad.mit.edu	37	4	126238232	126238232	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:126238232G>A	uc003ifj.3	+	1	666	c.666G>A	c.(664-666)GTG>GTA	p.V222V		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	222	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TGGTTGAGGTGGAGGACAAGG	0.592											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MFSD8	256471	broad.mit.edu	37	4	128864930	128864930	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:128864930C>T	uc003ifp.2	-	5	579	c.416G>A	c.(415-417)CGT>CAT	p.R139H	MFSD8_uc011cgu.1_Missense_Mutation_p.R94H|MFSD8_uc011cgv.1_Missense_Mutation_p.R139H|MFSD8_uc011cgw.1_RNA|MFSD8_uc011cgx.1_Missense_Mutation_p.R94H	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing	139	Helical; (Potential).		R -> H (in CLN7).		cell death|transmembrane transport	integral to membrane|lysosomal membrane				ovary(1)|liver(1)	2						CAACAATCCACGAGCAACCAG	0.413												
SCLT1	132320	broad.mit.edu	37	4	129812269	129812269	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:129812269A>C	uc003igp.2	-	19	2359	c.1853T>G	c.(1852-1854)CTT>CGT	p.L618R	SCLT1_uc003ign.2_Missense_Mutation_p.L282R|SCLT1_uc003igo.2_Missense_Mutation_p.L228R|SCLT1_uc003igq.2_Missense_Mutation_p.L237R|SCLT1_uc010iob.1_Missense_Mutation_p.L105R	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	sodium channel associated protein 1	618	Potential.					centrosome				ovary(3)|lung(1)|central_nervous_system(1)	5						TTGGGTATGAAGTTTCTGTCG	0.398												
ELF2	1998	broad.mit.edu	37	4	139980201	139980201	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:139980201G>A	uc003ihp.1	-	9	1888	c.1682C>T	c.(1681-1683)GCG>GTG	p.A561V	ELF2_uc003ihm.1_Missense_Mutation_p.A513V|ELF2_uc003ihn.1_Missense_Mutation_p.A501V|ELF2_uc003iho.1_Missense_Mutation_p.A484V|ELF2_uc011chc.1_Missense_Mutation_p.A376V	NM_201999	NP_973728	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription	573					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2	all_hematologic(180;0.162)					AGCTGAAGGCGCACTGACAAC	0.433												
MMAA	166785	broad.mit.edu	37	4	146572253	146572253	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:146572253A>G	uc003ikh.3	+	5	858	c.773A>G	c.(772-774)GAC>GGC	p.D258G	MMAA_uc010iow.2_Intron	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria type A precursor	258						mitochondrion	GTP binding|nucleoside-triphosphatase activity			ovary(1)	1	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GACATGGTTGACATGTTTGTT	0.308												
TMEM184C	55751	broad.mit.edu	37	4	148554111	148554111	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:148554111G>A	uc003ila.3	+	8	1406	c.837G>A	c.(835-837)ACG>ACA	p.T279T		NM_018241	NP_060711	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	279						integral to membrane					0						AAAAGCATACGTGGGAATGGC	0.348												
NR3C2	4306	broad.mit.edu	37	4	149075852	149075852	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:149075852C>T	uc003ilj.3	-	5	2549	c.2215G>A	c.(2215-2217)GTT>ATT	p.V739I	NR3C2_uc003ilk.3_Intron|NR3C2_uc010iph.2_Intron	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	739	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	AGGACCATAACGGGGGAAGGT	0.502												
LRBA	987	broad.mit.edu	37	4	151765907	151765907	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:151765907C>T	uc010ipj.2	-	27	4838	c.4364G>A	c.(4363-4365)TGC>TAC	p.C1455Y	LRBA_uc003ilt.3_Missense_Mutation_p.C114Y|LRBA_uc003ilu.3_Missense_Mutation_p.C1455Y	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1455						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					ACACTCCAAGCAATTCCTTAC	0.358												
FBXW7	55294	broad.mit.edu	37	4	153332714	153332714	+	Missense_Mutation	SNP	T	T	C	rs139738471		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:153332714T>C	uc003ims.2	-	2	391	c.242A>G	c.(241-243)AAT>AGT	p.N81S	FBXW7_uc011cii.1_Missense_Mutation_p.N81S|FBXW7_uc003imt.2_Missense_Mutation_p.N81S|FBXW7_uc003imu.2_Missense_Mutation_p.N81S	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	81					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding			haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AAATCTATTATTGTTTTCTTC	0.403			Mis|N|D|F		colorectal|endometrial|T-ALL							
DCHS2	54798	broad.mit.edu	37	4	155157153	155157153	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:155157153T>C	uc003inw.2	-	25	7286	c.7286A>G	c.(7285-7287)CAG>CGG	p.Q2429R		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2429	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAAAAAATACTGATCTTGAGT	0.433												
DCHS2	54798	broad.mit.edu	37	4	155243493	155243493	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:155243493A>C	uc003inw.2	-	13	2801	c.2801T>G	c.(2800-2802)GTT>GGT	p.V934G		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	934	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTGAATATTAACAACTGCCTG	0.353												
DCHS2	54798	broad.mit.edu	37	4	155254317	155254317	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:155254317G>A	uc003inw.2	-	9	1546	c.1546C>T	c.(1546-1548)CGG>TGG	p.R516W	DCHS2_uc003inx.2_Missense_Mutation_p.R1015W	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	516	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATGGAGTACCGGATGAGTCCG	0.647												
FGG	2266	broad.mit.edu	37	4	155526190	155526190	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:155526190A>G	uc003ioj.2	-	9	1299	c.1158T>C	c.(1156-1158)CCT>CCC	p.P386P	FGG_uc003iog.2_Silent_p.P386P|FGG_uc003ioh.2_Silent_p.P394P|FGG_uc010ipx.2_Silent_p.P214P|FGG_uc010ipy.2_Silent_p.P97P|FGG_uc003ioi.2_Silent_p.P97P|FGG_uc003iok.2_Silent_p.P394P	NM_021870	NP_068656	P02679	FIBG_HUMAN	fibrinogen, gamma chain isoform gamma-B	386	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding				0	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CATAACCATTAGGAGTAGATG	0.383												
RBM46	166863	broad.mit.edu	37	4	155749070	155749070	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:155749070A>G	uc003ioo.2	+	5	1626	c.1453A>G	c.(1453-1455)ACC>GCC	p.T485A	RBM46_uc011cim.1_3'UTR|RBM46_uc003iop.1_3'UTR	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	485							nucleotide binding|RNA binding			central_nervous_system(1)|skin(1)	2	all_hematologic(180;0.24)	Renal(120;0.0854)				TGTTAGTGCTACCCTCTCTTC	0.403												
GUCY1A3	2982	broad.mit.edu	37	4	156618181	156618181	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:156618181C>A	uc003iov.2	+	4	698	c.162C>A	c.(160-162)AAC>AAA	p.N54K	GUCY1A3_uc003iou.2_Missense_Mutation_p.N54K|GUCY1A3_uc010iqc.2_Missense_Mutation_p.N54K|GUCY1A3_uc003iow.2_Missense_Mutation_p.N54K|GUCY1A3_uc010iqd.2_Missense_Mutation_p.N54K|GUCY1A3_uc003iox.2_Missense_Mutation_p.N54K|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.N54K|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.N54K	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	54					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTGAGAAGAACATACAAGAAA	0.478												
TDO2	6999	broad.mit.edu	37	4	156832687	156832687	+	Silent	SNP	A	A	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:156832687A>T	uc003ipf.1	+	7	721	c.657A>T	c.(655-657)GGA>GGT	p.G219G		NM_005651	NP_005642	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	219					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	AGCCACATGGATTTAACTTCT	0.338												
RAPGEF2	9693	broad.mit.edu	37	4	160260432	160260432	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:160260432T>C	uc003iqg.3	+	13	2287	c.1977T>C	c.(1975-1977)CCT>CCC	p.P659P		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	659	Ras-associating.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CTGTCACACCTGAGGGAGTAA	0.433												
NEIL3	55247	broad.mit.edu	37	4	178272681	178272681	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:178272681T>C	uc003iut.2	+	7	1134	c.1017T>C	c.(1015-1017)GCT>GCC	p.A339A	NEIL3_uc010irs.2_Intron	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3	339	RanBP2-type.				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CATGTGATGCTTGCTTGACCT	0.413								BER_DNA_glycosylases				
IRF2	3660	broad.mit.edu	37	4	185340688	185340688	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:185340688G>A	uc003iwf.3	-	3	322	c.122C>T	c.(121-123)GCG>GTG	p.A41V		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	41	IRF tryptophan pentad repeat.				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		ATGTCTAGCCGCATGCATCCA	0.423												
MLF1IP	79682	broad.mit.edu	37	4	185637662	185637662	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:185637662C>T	uc003iwq.2	-	6	577	c.507G>A	c.(505-507)GCG>GCA	p.A169A	MLF1IP_uc003iwp.2_RNA|MLF1IP_uc003iwr.1_Silent_p.A169A	NM_024629	NP_078905	Q71F23	CENPU_HUMAN	MLF1 interacting protein	169					CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm					0		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		GTTCTGAAGACGCTGTGGTTC	0.418												
SLC25A4	291	broad.mit.edu	37	4	186068023	186068023	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:186068023A>G	uc003ixd.2	+	4	924	c.795A>G	c.(793-795)GAA>GAG	p.E265E	SLC25A4_uc003ixe.2_RNA	NM_001151	NP_001142	P12235	ADT1_HUMAN	adenine nucleotide translocator 1	265	Solcar 3.				energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane	adenine transmembrane transporter activity|protein binding			ovary(1)	1		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	CAAAAGACGAAGGAGCCAAGG	0.483												
FAM149A	25854	broad.mit.edu	37	4	187084649	187084649	+	Missense_Mutation	SNP	G	G	A	rs139445329	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:187084649G>A	uc003iyt.3	+	10	1484	c.905G>A	c.(904-906)CGG>CAG	p.R302Q	FAM149A_uc011cla.1_Missense_Mutation_p.R302Q|FAM149A_uc003iyu.3_Missense_Mutation_p.R302Q|FAM149A_uc010isl.2_Missense_Mutation_p.R302Q|FAM149A_uc011clb.1_Missense_Mutation_p.R302Q	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	hypothetical protein LOC25854	593										breast(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		AGACTGGGACGGGCCTCAGAC	0.522												
TRIML2	205860	broad.mit.edu	37	4	189013068	189013068	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:189013068G>T	uc003izl.2	-	7	659	c.623C>A	c.(622-624)GCT>GAT	p.A208D	TRIML2_uc003izj.1_Missense_Mutation_p.A36D|TRIML2_uc003izk.1_Missense_Mutation_p.A16D|TRIML2_uc011cle.1_Missense_Mutation_p.A283D	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	208	B30.2/SPRY.						ligase activity			central_nervous_system(2)	2		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCAGGGATGAGCTGTTTCAGG	0.478												
CCDC127	133957	broad.mit.edu	37	5	206059	206059	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:206059T>C	uc003jam.1	-	3	236	c.136A>G	c.(136-138)AGG>GGG	p.R46G		NM_145265	NP_660308	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	46											0			all cancers(22;0.0236)|Lung(60;0.113)			TGGGACTCCCTAGACCAAATC	0.423												
NKD2	85409	broad.mit.edu	37	5	1038076	1038076	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:1038076G>A	uc003jbt.1	+	10	949	c.944G>A	c.(943-945)CGG>CAG	p.R315Q	NKD2_uc010itf.1_3'UTR	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	naked cuticle homolog 2	315	Interaction with TGFA.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding				0	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			CCTGCTGCCCGGGCCCTGGAC	0.701												
SLC12A7	10723	broad.mit.edu	37	5	1073892	1073892	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:1073892G>A	uc003jbu.2	-	17	2163	c.2097C>T	c.(2095-2097)AAC>AAT	p.N699N		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	699					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CCGCGTCCAGGTTCAGCATCA	0.682												
KIAA0947	23379	broad.mit.edu	37	5	5462178	5462178	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:5462178A>G	uc003jdm.3	+	13	2953	c.2731A>G	c.(2731-2733)ACA>GCA	p.T911A		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	911										ovary(1)|central_nervous_system(1)	2						AAGAGATGATACAACACAAAA	0.423												
KIAA0947	23379	broad.mit.edu	37	5	5464615	5464615	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:5464615A>G	uc003jdm.3	+	13	5390	c.5168A>G	c.(5167-5169)CAC>CGC	p.H1723R		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1723	Pro-rich.									ovary(1)|central_nervous_system(1)	2						ACGCCGAAGCACGCACTTCCT	0.592												
TRIO	7204	broad.mit.edu	37	5	14498254	14498254	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:14498254G>A	uc003jff.2	+	52	8110	c.8104G>A	c.(8104-8106)GTT>ATT	p.V2702I	TRIO_uc003jfg.2_RNA	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2702	Ig-like C2-type.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					AGGGGAGACCGTTGTTCTTAG	0.542												
FBXL7	23194	broad.mit.edu	37	5	15936943	15936943	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:15936943G>A	uc003jfn.1	+	4	1605	c.1124G>A	c.(1123-1125)TGC>TAC	p.C375Y		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	375	LRR 8.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						GCCAAGTACTGCAGCAAGCTG	0.642												
ZNF622	90441	broad.mit.edu	37	5	16465449	16465449	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:16465449A>G	uc003jfq.2	-	1	446	c.326T>C	c.(325-327)ATG>ACG	p.M109T		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	zinc finger protein 622	109						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1						CTTTTCATTCATCATCTCCAC	0.557												
CDH12	1010	broad.mit.edu	37	5	21802401	21802401	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:21802401G>A	uc010iuc.2	-	7	1589	c.1131C>T	c.(1129-1131)GAC>GAT	p.D377D	CDH12_uc011cno.1_Silent_p.D337D|CDH12_uc003jgk.2_Silent_p.D377D	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	377	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						GCTCATCTACGTCCAGCACGC	0.537										HNSCC(59;0.17)		
CDH10	1008	broad.mit.edu	37	5	24493022	24493022	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:24493022T>G	uc003jgr.1	-	10	1860	c.1528A>C	c.(1528-1530)ATA>CTA	p.I510L	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	510	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		ACTGCACTTATAGTCTGTATT	0.338										HNSCC(23;0.051)		
C5orf22	55322	broad.mit.edu	37	5	31534401	31534401	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:31534401C>T	uc003jhj.3	+	2	231	c.104C>T	c.(103-105)GCC>GTC	p.A35V	RNASEN_uc003jhh.2_5'Flank|RNASEN_uc003jhg.2_5'Flank|RNASEN_uc003jhi.2_5'Flank|C5orf22_uc011cnw.1_RNA|C5orf22_uc003jhk.3_5'UTR	NM_018356	NP_060826	Q49AR2	CE022_HUMAN	hypothetical protein LOC55322	35										ovary(2)	2						ATATACCGGGCCATAGGCTCA	0.423												
ZFR	51663	broad.mit.edu	37	5	32417836	32417836	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:32417836T>A	uc003jhr.1	-	4	562	c.482A>T	c.(481-483)TAC>TTC	p.Y161F	ZFR_uc010iun.1_Missense_Mutation_p.Y161F	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	161	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)		TGGTTGTTGGTAGTATTGCTT	0.433												
ADAMTS12	81792	broad.mit.edu	37	5	33658358	33658358	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:33658358C>T	uc003jia.1	-	7	1284	c.1121G>A	c.(1120-1122)CGC>CAC	p.R374H	ADAMTS12_uc010iuq.1_Missense_Mutation_p.R374H	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	374	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						GTTACAACTGCGGTGAGGCTG	0.507										HNSCC(64;0.19)		
SPEF2	79925	broad.mit.edu	37	5	35646909	35646909	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:35646909A>C	uc003jjo.2	+	5	837	c.726A>C	c.(724-726)GAA>GAC	p.E242D	SPEF2_uc003jjn.1_Missense_Mutation_p.E242D|SPEF2_uc003jjq.3_Missense_Mutation_p.E242D	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	242	Potential.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGAGGCAGAAGTAAGTGATA	0.343												
SPEF2	79925	broad.mit.edu	37	5	35807348	35807348	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:35807348A>G	uc003jjo.2	+	36	5483	c.5372A>G	c.(5371-5373)AAG>AGG	p.K1791R	SPEF2_uc003jjp.1_Missense_Mutation_p.K1277R|SPEF2_uc003jjr.2_Missense_Mutation_p.K846R	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1791					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCAGACTATAAGTTTCCTGTG	0.418												
C9	735	broad.mit.edu	37	5	39288948	39288948	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:39288948T>C	uc003jlv.3	-	10	1611	c.1522A>G	c.(1522-1524)AGA>GGA	p.R508G		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	508	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TGGCATTTTCTTACACTAAAT	0.363												
C6	729	broad.mit.edu	37	5	41201782	41201782	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:41201782A>T	uc003jmk.2	-	3	388	c.178T>A	c.(178-180)TTT>ATT	p.F60I	C6_uc003jml.1_Missense_Mutation_p.F60I	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	60	TSP type-1 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGTTCACAAAAGTTTTCCTGG	0.413												
SNX18	112574	broad.mit.edu	37	5	53814454	53814454	+	Silent	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:53814454C>A	uc003jpj.3	+	1	862	c.672C>A	c.(670-672)ACC>ACA	p.T224T	SNX18_uc011cqg.1_Silent_p.T224T|SNX18_uc003jpi.3_Silent_p.T224T	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	sorting nexin 18 isoform b	224					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)				GCTCGGCCACCGTGAGCCGCA	0.711												
IL6ST	3572	broad.mit.edu	37	5	55247857	55247857	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:55247857G>A	uc003jqq.2	-	13	1854	c.1599C>T	c.(1597-1599)AAC>AAT	p.N533N	IL6ST_uc010iwb.2_Silent_p.N472N|IL6ST_uc010iwc.2_Intron|IL6ST_uc010iwd.2_Intron|IL6ST_uc011cqk.1_Silent_p.N244N|IL6ST_uc003jqr.2_3'UTR|IL6ST_uc010iwe.1_5'Flank	NM_002184	NP_002175	P40189	IL6RB_HUMAN	interleukin 6 signal transducer isoform 1	533	Extracellular (Potential).|Fibronectin type-III 5.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AGACAGCTTCGTTTTTCCCTA	0.348			O		hepatocellular ca							
C5orf35	133383	broad.mit.edu	37	5	56209799	56209799	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:56209799T>C	uc003jqx.2	+	4	1062	c.689T>C	c.(688-690)GTC>GCC	p.V230A	C5orf35_uc003jqy.2_RNA	NM_153706	NP_714917	Q8NE22	CE035_HUMAN	hypothetical protein LOC133383	230										ovary(1)	1		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.173)		OV - Ovarian serous cystadenocarcinoma(10;2.58e-39)		GGACAGTATGTCAACAATTGT	0.443												
HTR1A	3350	broad.mit.edu	37	5	63257304	63257304	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:63257304G>A	uc011cqt.1	-	1	243	c.243C>T	c.(241-243)ACC>ACT	p.T81T		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	81	Helical; Name=2; (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCATGAGGTCGGTGACCGCCA	0.612												
OCLN	4950	broad.mit.edu	37	5	68805114	68805114	+	Missense_Mutation	SNP	G	G	A	rs116363086	by1000genomes	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:68805114G>A	uc003jwu.2	+	3	633	c.197G>A	c.(196-198)CGG>CAG	p.R66Q	OCLN_uc003jwv.3_Missense_Mutation_p.R66Q	NM_002538	NP_002529			occludin												0		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GGAGTGATTCGGATCCTGTCT	0.478												
MAP1B	4131	broad.mit.edu	37	5	71490958	71490958	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:71490958G>A	uc003kbw.3	+	5	2017	c.1776G>A	c.(1774-1776)AAG>AAA	p.K592K	MAP1B_uc010iyw.1_Silent_p.K609K|MAP1B_uc010iyx.1_Silent_p.K466K|MAP1B_uc010iyy.1_Silent_p.K466K	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	592	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).					microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAAAAGACAAGCCAATAAAAA	0.448												
UTP15	84135	broad.mit.edu	37	5	72872794	72872794	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:72872794G>A	uc003kcw.1	+	8	1050	c.827G>A	c.(826-828)AGC>AAC	p.S276N	UTP15_uc011cso.1_Missense_Mutation_p.S257N|UTP15_uc011csp.1_Missense_Mutation_p.S86N|UTP15_uc010ize.1_Missense_Mutation_p.S276N	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein,	276	WD 6.				rRNA processing	cytoplasm|nucleolus					0		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		AAAGTATACAGCACAACTTCC	0.328												
FAM169A	26049	broad.mit.edu	37	5	74130280	74130280	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:74130280G>A	uc003kdm.2	-	5	504	c.461C>T	c.(460-462)GCC>GTC	p.A154V	FAM169A_uc010izm.2_Missense_Mutation_p.A154V|FAM169A_uc003kdl.2_Intron	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN	hypothetical protein LOC26049	154											0						AAACCCAATGGCCTCTCCTTT	0.358												
HMGCR	3156	broad.mit.edu	37	5	74643075	74643075	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:74643075C>T	uc003kdp.2	+	6	653	c.497C>T	c.(496-498)CCT>CTT	p.P166L	HMGCR_uc011cst.1_Missense_Mutation_p.P186L|HMGCR_uc003kdq.2_Missense_Mutation_p.P166L|HMGCR_uc010izn.1_Missense_Mutation_p.P6L	NM_000859	NP_000850	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-Coenzyme A reductase	166	Helical; (Potential).				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	ATTTTAGGTCCTACGTTTACC	0.363												
WDR41	55255	broad.mit.edu	37	5	76785281	76785281	+	Splice_Site	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:76785281C>T	uc003kff.1	-	2	454	c.167_splice	c.e2+1	p.R56_splice	WDR41_uc011csy.1_Splice_Site_p.R56_splice|WDR41_uc011csz.1_Intron|WDR41_uc011cta.1_Splice_Site|WDR41_uc011ctb.1_Splice_Site	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN	WD repeat domain 41												0		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		TAGCTTCTTACCTGTAGTCAT	0.338												
CMYA5	202333	broad.mit.edu	37	5	79027504	79027504	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:79027504C>T	uc003kgc.2	+	2	2988	c.2916C>T	c.(2914-2916)TGC>TGT	p.C972C		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	972						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AATTTGAGTGCGATTCTCCAA	0.418												
VCAN	1462	broad.mit.edu	37	5	82833689	82833689	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:82833689A>G	uc003kii.3	+	8	5223	c.4867A>G	c.(4867-4869)ACT>GCT	p.T1623A	VCAN_uc003kij.3_Missense_Mutation_p.T636A|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.T287A	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1623	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGTAGAAGCAACTCCTAGACA	0.438												
ERAP1	51752	broad.mit.edu	37	5	96139461	96139461	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:96139461A>G	uc003kmm.2	-	2	516	c.169T>C	c.(169-171)TAC>CAC	p.Y57H	ERAP1_uc003kml.2_Missense_Mutation_p.Y57H|ERAP1_uc010jbm.1_Intron|ERAP1_uc003kmn.2_Missense_Mutation_p.Y57H	NM_001040458	NP_001035548	Q9NZ08	ERAP1_HUMAN	type 1 tumor necrosis factor receptor shedding	57	Lumenal (Potential).				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		GGGATGACGTACTCAGGAAGT	0.468												
FBXL17	64839	broad.mit.edu	37	5	107700605	107700605	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:107700605C>T	uc011cvc.1	-	3	1615	c.1208G>A	c.(1207-1209)GGC>GAC	p.G403D	FBXL17_uc003kon.3_Missense_Mutation_p.G5D	NM_001163315	NP_001156787	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	403											0		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		AACACATACGCCATTATCAGA	0.378												
WDR36	134430	broad.mit.edu	37	5	110439999	110439999	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:110439999T>G	uc003kpd.2	+	8	1139	c.1022T>G	c.(1021-1023)TTT>TGT	p.F341C	WDR36_uc010jbu.2_RNA	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	WD repeat domain 36	341	WD 4.				response to stimulus|rRNA processing|visual perception	small-subunit processome				ovary(1)|skin(1)	2		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GGACTGACATTTCTCCATAGA	0.418												
APC	324	broad.mit.edu	37	5	112164562	112164562	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:112164562A>G	uc010jby.2	+	14	2016	c.1636A>G	c.(1636-1638)AGT>GGT	p.S546G	APC_uc011cvt.1_Missense_Mutation_p.S528G|APC_uc003kpz.3_Missense_Mutation_p.S546G|APC_uc003kpy.3_Missense_Mutation_p.S546G|APC_uc010jbz.2_Missense_Mutation_p.S263G|APC_uc010jca.2_Intron	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	546	ARM 2.|Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGTTATTGCGAGTGTTTTGAG	0.313		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)		
MCC	4163	broad.mit.edu	37	5	112379243	112379243	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:112379243T>C	uc003kqj.3	-	15	2700	c.2170A>G	c.(2170-2172)ACC>GCC	p.T724A	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.T914A	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	724					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ATGGCGTTGGTGAACTCCGCA	0.557											OREG0016728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TSSK1B	83942	broad.mit.edu	37	5	112769928	112769928	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:112769928G>A	uc003kqm.2	-	1	801	c.609C>T	c.(607-609)GGC>GGT	p.G203G	MCC_uc003kql.3_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1	203	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|skin(2)|stomach(1)	5		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		AGAGGATCACGCCTAGGCTCC	0.572												
DMXL1	1657	broad.mit.edu	37	5	118433795	118433795	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:118433795G>A	uc003ksd.2	+	2	390	c.209G>A	c.(208-210)GGC>GAC	p.G70D	DMXL1_uc010jcl.1_Missense_Mutation_p.G70D|DMXL1_uc003ksc.1_Missense_Mutation_p.G70D	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	70										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATGCAACAAGGCAAGGTTTGT	0.338												
ADAMTS19	171019	broad.mit.edu	37	5	129072766	129072766	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:129072766T>G	uc003kvb.1	+	23	3479	c.3479T>G	c.(3478-3480)CTG>CGG	p.L1160R	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1160	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ACAGCTGCTCTGACTTTCAAG	0.458												
RAPGEF6	51735	broad.mit.edu	37	5	131080362	131080362	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:131080362A>G	uc003kvp.1	-	2	256	c.114T>C	c.(112-114)GAT>GAC	p.D38D	FNIP1_uc003kvs.1_Silent_p.D38D|FNIP1_uc003kvt.1_Silent_p.D38D|FNIP1_uc010jdm.1_Silent_p.D38D|FNIP1_uc003kvu.2_Silent_p.D38D	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	Error:Variant_position_missing_in_Q8TEU7_after_alignment					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCTGGCTTGGATCAAACTCTG	0.328												
TCF7	6932	broad.mit.edu	37	5	133478495	133478495	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:133478495T>C	uc003kyt.2	+	7	1035	c.839T>C	c.(838-840)ATG>ACG	p.M280T	TCF7_uc003kyu.1_Missense_Mutation_p.M165T|TCF7_uc003kyv.2_Missense_Mutation_p.M165T|TCF7_uc003kyw.2_Missense_Mutation_p.M165T|TCF7_uc003kyx.2_Missense_Mutation_p.M78T|TCF7_uc003kyy.2_Missense_Mutation_p.M165T|TCF7_uc003kyz.2_Missense_Mutation_p.M165T|TCF7_uc003kza.2_Missense_Mutation_p.M165T|TCF7_uc003kzb.2_Missense_Mutation_p.M94T|TCF7_uc010jdu.2_5'Flank	NM_003202	NP_003193	P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific,	280	HMG box.				cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding				0		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGCTGTACATGAAGGAGATG	0.557												
CATSPER3	347732	broad.mit.edu	37	5	134305635	134305635	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:134305635C>T	uc003lag.2	+	2	173	c.105C>T	c.(103-105)AAC>AAT	p.N35N		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	35	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACAGGAGGAACGATGATGAAT	0.393												
CATSPER3	347732	broad.mit.edu	37	5	134332192	134332192	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:134332192A>G	uc003lag.2	+	3	550	c.482A>G	c.(481-483)CAG>CGG	p.Q161R		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	161	Helical; Name=Segment S4; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGCTATAGCCAGGGCATCCGG	0.567												
KIF20A	10112	broad.mit.edu	37	5	137519724	137519724	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:137519724G>T	uc003lcj.2	+	11	1778	c.1282G>T	c.(1282-1284)GGA>TGA	p.G428*	KIF20A_uc011cyo.1_Nonsense_Mutation_p.G410*	NM_005733	NP_005724	O95235	KI20A_HUMAN	kinesin family member 20A	428	Kinesin-motor.				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GAAGGAAGCAGGAAACATTAA	0.502												
CDC23	8697	broad.mit.edu	37	5	137525405	137525405	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:137525405G>A	uc003lcl.2	-	15	1571	c.1540C>T	c.(1540-1542)CGC>TGC	p.R514C		NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	cell division cycle protein 23	514					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCCAGATAGCGAAAGGCAGTG	0.388												
KDM3B	51780	broad.mit.edu	37	5	137710881	137710881	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:137710881T>C	uc003lcy.1	+	3	660	c.460T>C	c.(460-462)TTG>CTG	p.L154L	KDM3B_uc010jew.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	154					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						TGCCAATGGGTTGCATCTGTT	0.398												
HSPA9	3313	broad.mit.edu	37	5	137893599	137893599	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:137893599T>C	uc003ldf.2	-	13	1700	c.1592A>G	c.(1591-1593)CAT>CGT	p.H531R	HSPA9_uc003lde.2_5'Flank|HSPA9_uc011cyw.1_Intron	NM_004134	NP_004125	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 precursor	531					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGCAGAAACATGTACTATCCC	0.428												
CTNNA1	1495	broad.mit.edu	37	5	138268334	138268334	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:138268334A>G	uc003ldh.2	+	17	2461	c.2366A>G	c.(2365-2367)CAG>CGG	p.Q789R	CTNNA1_uc011cyx.1_Missense_Mutation_p.Q686R|CTNNA1_uc011cyy.1_Missense_Mutation_p.Q666R|CTNNA1_uc003ldi.2_Missense_Mutation_p.Q487R|CTNNA1_uc003ldj.2_Missense_Mutation_p.Q789R|CTNNA1_uc003ldl.2_Missense_Mutation_p.Q419R	NM_001903	NP_001894	P35221	CTNA1_HUMAN	catenin, alpha 1	789				Q -> H (in Ref. 1; BAA03530).	adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TACTGCCACCAGCTGAACATC	0.572												
APBB3	10307	broad.mit.edu	37	5	139941778	139941778	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:139941778G>A	uc003lgd.1	-	6	892	c.533C>T	c.(532-534)GCC>GTC	p.A178V	APBB3_uc003lgb.1_5'UTR|APBB3_uc003lgc.1_5'UTR|APBB3_uc003lge.1_Missense_Mutation_p.A178V|APBB3_uc003lgf.1_RNA|APBB3_uc010jfp.1_RNA|APBB3_uc011czi.1_5'UTR|APBB3_uc010jfq.1_5'Flank|SLC35A4_uc003lgg.1_5'Flank|SLC35A4_uc003lgh.1_5'Flank	NM_133172	NP_573418	O95704	APBB3_HUMAN	amyloid beta precursor protein-binding, family	178	PID 1.					actin cytoskeleton|cytoplasm				ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGGCTCATGGCATCCTTCTT	0.557												
TMCO6	55374	broad.mit.edu	37	5	140023147	140023147	+	Splice_Site	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:140023147A>G	uc003lgl.2	+	8	908	c.807_splice	c.e8-2	p.S269_splice	TMCO6_uc003lgm.2_Splice_Site_p.S275_splice|TMCO6_uc010jft.2_Splice_Site_p.S29_splice|TMCO6_uc003lgn.2_Splice_Site_p.S160_splice|TMCO6_uc003lgo.2_Splice_Site_p.S29_splice	NM_018502	NP_060972	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6						protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGTTGCCCAGCCAGGTCAG	0.453												
PCDHA4	56144	broad.mit.edu	37	5	140188686	140188686	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:140188686C>T	uc003lhi.2	+	1	2015	c.1914C>T	c.(1912-1914)GAC>GAT	p.D638D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.D638D|PCDHA4_uc011daa.1_Silent_p.D638D	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	638	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCCTGGACGAAACGGACG	0.677												
PCDHA5	56143	broad.mit.edu	37	5	140202575	140202575	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:140202575G>A	uc003lhl.2	+	1	1215	c.1215G>A	c.(1213-1215)TCG>TCA	p.S405S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.S405S|PCDHA5_uc003lhj.1_Silent_p.S405S	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	405	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTACTACTCGTTGGTGCTGG	0.642												
PCDHA12	56137	broad.mit.edu	37	5	140257241	140257241	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:140257241C>T	uc003lic.2	+	1	2311	c.2184C>T	c.(2182-2184)ACC>ACT	p.T728T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.T728T	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	728	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCGCCCACCGTGAGCCGGT	0.647												
PCDHB4	56131	broad.mit.edu	37	5	140503797	140503797	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:140503797C>T	uc003lip.1	+	1	2217	c.2217C>T	c.(2215-2217)AGC>AGT	p.S739S		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	739	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGACGTAAGCGGCACCGGGA	0.622												
PCDHB8	56128	broad.mit.edu	37	5	140559636	140559636	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:140559636T>C	uc011dai.1	+	1	2207	c.2021T>C	c.(2020-2022)CTT>CCT	p.L674P	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	674	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACCTGCCGCTTCCGGAGGCT	0.672												
PCDHB16	57717	broad.mit.edu	37	5	140562237	140562237	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:140562237G>A	uc003liv.2	+	1	1258	c.103G>A	c.(103-105)GTA>ATA	p.V35I	PCDHB16_uc010jfw.1_Intron	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	35	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCCTATTCCGTAGTGGAAGA	0.522												
PCDHB11	56125	broad.mit.edu	37	5	140580848	140580848	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:140580848G>A	uc003liy.2	+	1	1501	c.1501G>A	c.(1501-1503)GCC>ACC	p.A501T	PCDHB11_uc011daj.1_Missense_Mutation_p.A136T	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	501	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCCCCTCGCCTCCCTGGT	0.647												
PCDHB15	56121	broad.mit.edu	37	5	140626735	140626735	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:140626735G>A	uc003lje.2	+	1	1589	c.1589G>A	c.(1588-1590)CGC>CAC	p.R530H		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	530	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGAGTTCCGCGTGGGCGCC	0.662												
SLC25A2	83884	broad.mit.edu	37	5	140683099	140683099	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:140683099C>T	uc003ljf.2	-	1	514	c.334G>A	c.(334-336)GCG>ACG	p.A112T		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 member 2	112	Helical; Name=3; (Potential).|Solcar 2.				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			ovary(1)	1		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	AAGGACCCCGCGGCTGCAGTC	0.557												
PCDHGA6	56109	broad.mit.edu	37	5	140756049	140756049	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:140756049C>T	uc003ljy.1	+	1	2399	c.2399C>T	c.(2398-2400)ACG>ATG	p.T800M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.T800M	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	800	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTACTTGAAACGAAAGGAGAA	0.483												
PCDHGB5	56101	broad.mit.edu	37	5	140779417	140779417	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:140779417C>T	uc003lkf.1	+	1	1723	c.1723C>T	c.(1723-1725)CCG>TCG	p.P575S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.P575S	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	575	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGATATGGTGCCGCGCGCTGC	0.672												
PCDHGA12	26025	broad.mit.edu	37	5	140811041	140811041	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:140811041G>A	uc003lkt.1	+	1	884	c.715G>A	c.(715-717)GCA>ACA	p.A239T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.A239T	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	239	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCACCAGCGTT	0.662												
PCDH1	5097	broad.mit.edu	37	5	141243692	141243692	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:141243692G>A	uc003llq.2	-	3	2321	c.2204C>T	c.(2203-2205)ACG>ATG	p.T735M	PCDH1_uc003llp.2_Missense_Mutation_p.T735M|PCDH1_uc011dbf.1_Missense_Mutation_p.T713M	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	735	Extracellular (Potential).|Cadherin 7.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTGGCTGACCGTCTCACCAAG	0.542												
RBM27	54439	broad.mit.edu	37	5	145650551	145650551	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:145650551T>G	uc003lnz.3	+	18	2892	c.2726T>G	c.(2725-2727)CTC>CGC	p.L909R		NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	909					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			central_nervous_system(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAACTGGACCTCCACAAGAGG	0.408												
SH3TC2	79628	broad.mit.edu	37	5	148386495	148386495	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:148386495G>C	uc003lpu.2	-	16	3776	c.3624C>G	c.(3622-3624)TAC>TAG	p.Y1208*	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Nonsense_Mutation_p.Y852*|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Nonsense_Mutation_p.Y755*|SH3TC2_uc010jgx.2_Nonsense_Mutation_p.Y1201*	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1208							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTGGCATAGTACAGGGCCT	0.547												
ARSI	340075	broad.mit.edu	37	5	149677000	149677000	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:149677000T>C	uc003lrv.2	-	2	2076	c.1487A>G	c.(1486-1488)AAC>AGC	p.N496S		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I precursor	496						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCTGTGCGGTTATATTCGGC	0.622												
TCOF1	6949	broad.mit.edu	37	5	149776323	149776323	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:149776323G>A	uc003lry.2	+	24	4368	c.4260G>A	c.(4258-4260)GAG>GAA	p.E1420E	TCOF1_uc011dch.1_Silent_p.E1383E|TCOF1_uc003lrz.2_Silent_p.E1382E|TCOF1_uc003lrx.2_Silent_p.E1344E|TCOF1_uc003lsa.2_Silent_p.E1343E	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1420					skeletal system development	nucleolus	protein binding|transporter activity			ovary(2)|large_intestine(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGAAGAGGAGCTTCAGAAGG	0.527												
NDST1	3340	broad.mit.edu	37	5	149901204	149901204	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:149901204C>T	uc003lsk.3	+	2	890	c.388C>T	c.(388-390)CGT>TGT	p.R130C	NDST1_uc011dcj.1_Missense_Mutation_p.R130C|NDST1_uc003lsl.2_Missense_Mutation_p.R130C	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	130	Heparan sulfate N-deacetylase 1.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGACAAGGGCCGTGGCCGCTT	0.607												
NDST1	3340	broad.mit.edu	37	5	149921174	149921174	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:149921174G>A	uc003lsk.3	+	9	2294	c.1792G>A	c.(1792-1794)GAG>AAG	p.E598K	NDST1_uc011dcj.1_Missense_Mutation_p.E598K	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	598	Heparan sulfate N-deacetylase 1.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGTCCAAGGAGAAGACGTG	0.577												
FAT2	2196	broad.mit.edu	37	5	150946762	150946762	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:150946762C>T	uc003lue.3	-	1	1744	c.1731G>A	c.(1729-1731)TGG>TGA	p.W577*	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Nonsense_Mutation_p.W577*	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	577	Extracellular (Potential).|Cadherin 5.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCCTACTGGCCAGTCTTGGC	0.428												
FAT2	2196	broad.mit.edu	37	5	150948282	150948282	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:150948282A>G	uc003lue.3	-	1	224	c.211T>C	c.(211-213)TAC>CAC	p.Y71H	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.Y71H	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	71	Extracellular (Potential).|Cadherin 1.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGATCCGGTACCTCACTGCC	0.478												
G3BP1	10146	broad.mit.edu	37	5	151179453	151179453	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:151179453C>T	uc003lun.2	+	9	1018	c.847C>T	c.(847-849)CGT>TGT	p.R283C	G3BP1_uc003lum.2_Missense_Mutation_p.R283C|G3BP1_uc011dcu.1_Missense_Mutation_p.R101C|G3BP1_uc010jhz.2_Missense_Mutation_p.R101C|G3BP1_uc003luq.2_Intron	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Ras-GTPase-activating protein SH3-domain-binding	283					Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			skin(3)|ovary(1)	4		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			TTTTCAGCCCCGTCCAGAGTC	0.388												
GEMIN5	25929	broad.mit.edu	37	5	154284999	154284999	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:154284999T>C	uc003lvx.3	-	17	2516	c.2433A>G	c.(2431-2433)TCA>TCG	p.S811S	GEMIN5_uc011ddk.1_Silent_p.S810S	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	811					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	p.S811L(1)		skin(2)|ovary(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTTCAAAGCCTGAGGAAACTG	0.343												
KIF4B	285643	broad.mit.edu	37	5	154395130	154395130	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:154395130C>T	uc010jih.1	+	1	1871	c.1711C>T	c.(1711-1713)CTG>TTG	p.L571L		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	571	Potential.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGTCATCAATCTGCAAAAGGA	0.423												
FAM71B	153745	broad.mit.edu	37	5	156592737	156592737	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:156592737C>T	uc003lwn.2	-	1	543	c.443G>A	c.(442-444)CGT>CAT	p.R148H		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	148						nucleus				ovary(4)|pancreas(1)|skin(1)	6	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATAAAAAGTACGGCCAGTGGC	0.478												
ADAM19	8728	broad.mit.edu	37	5	156964960	156964960	+	Silent	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:156964960A>C	uc003lwz.2	-	4	355	c.291T>G	c.(289-291)ACT>ACG	p.T97T	ADAM19_uc003lww.1_5'UTR|ADAM19_uc011ddr.1_Silent_p.T28T	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	97					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TACCACTTGAAGTATAATGGG	0.443												
THG1L	54974	broad.mit.edu	37	5	157164949	157164949	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:157164949T>C	uc003lxd.2	+	5	808	c.682T>C	c.(682-684)TAT>CAT	p.Y228H	THG1L_uc011ddu.1_Missense_Mutation_p.Y96H	NM_017872	NP_060342	Q9NWX6	THG1_HUMAN	interphase cytoplasmic foci protein 45	228					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity				0	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAACATCAACTATAATAATGA	0.343												
C1QTNF2	114898	broad.mit.edu	37	5	159781796	159781796	+	Missense_Mutation	SNP	G	G	A	rs115558158	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:159781796G>A	uc003lyd.2	-	2	362	c.358C>T	c.(358-360)CGG>TGG	p.R120W		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	75	Collagen-like.					collagen				skin(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGTCCCCCCGGTCGCCGTCG	0.632												
C1QTNF2	114898	broad.mit.edu	37	5	159781937	159781937	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:159781937G>A	uc003lyd.2	-	2	221	c.217C>T	c.(217-219)CGG>TGG	p.R73W		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	28						collagen				skin(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGCCTTTCCGGAAGTCCCTG	0.682												
ATP10B	23120	broad.mit.edu	37	5	160076199	160076199	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:160076199A>T	uc003lym.1	-	8	1587	c.740T>A	c.(739-741)CTC>CAC	p.L247H	ATP10B_uc003lyp.2_Missense_Mutation_p.L247H|ATP10B_uc011deg.1_Missense_Mutation_p.L291H|ATP10B_uc003lyo.2_Missense_Mutation_p.L219H	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	247	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAATTTGTTGAGGTGGTTGTT	0.398												
GABRA1	2554	broad.mit.edu	37	5	161292772	161292772	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:161292772G>T	uc010jiw.2	+	5	701	c.233G>T	c.(232-234)GGA>GTA	p.G78V	GABRA1_uc010jix.2_Missense_Mutation_p.G78V|GABRA1_uc010jiy.2_Missense_Mutation_p.G78V|GABRA1_uc003lyx.3_Missense_Mutation_p.G78V|GABRA1_uc010jiz.2_Missense_Mutation_p.G78V|GABRA1_uc010jja.2_Missense_Mutation_p.G78V|GABRA1_uc010jjb.2_Missense_Mutation_p.G78V	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	78	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	ACCAGTTTCGGACCCGTTTCA	0.373												
NUDCD2	134492	broad.mit.edu	37	5	162887021	162887021	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:162887021T>C	uc003lze.2	-	1	123	c.36A>G	c.(34-36)GTA>GTG	p.V12V	HMMR_uc003lzh.2_5'Flank|HMMR_uc003lzf.2_5'Flank|HMMR_uc003lzg.2_5'Flank|HMMR_uc011dem.1_5'Flank	NM_145266	NP_660309	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	12						intracellular					0	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		TCCCGCACGGTACCACCCCAC	0.687												
CPEB4	80315	broad.mit.edu	37	5	173383109	173383109	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:173383109G>A	uc003mcs.3	+	10	3565	c.2159G>A	c.(2158-2160)CGC>CAC	p.R720H	CPEB4_uc010jjv.2_Missense_Mutation_p.R703H|CPEB4_uc011dfg.1_Missense_Mutation_p.R695H|CPEB4_uc003mct.3_Missense_Mutation_p.R330H|CPEB4_uc003mcu.3_Missense_Mutation_p.R313H	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	720							nucleotide binding|RNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGCGGTGACCGCCCTCGGCAT	0.502												
SFXN1	94081	broad.mit.edu	37	5	174937167	174937167	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:174937167G>A	uc003mda.2	+	4	529	c.391G>A	c.(391-393)GTC>ATC	p.V131I	SFXN1_uc003mdb.1_Missense_Mutation_p.V70I	NM_022754	NP_073591	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	131					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			ovary(1)	1	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAATGCCGTCGTCAATTACAC	0.498												
COL23A1	91522	broad.mit.edu	37	5	177682023	177682023	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:177682023G>A	uc003mje.2	-	16	1245	c.887C>T	c.(886-888)GCC>GTC	p.A296V	COL23A1_uc010jkt.2_Missense_Mutation_p.A178V	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	296	Extracellular (Potential).|Collagen-like 2.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|skin(1)	2	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		GAGGCCTGGGGCACCCTGAGG	0.547												
COL23A1	91522	broad.mit.edu	37	5	177987735	177987735	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:177987735T>C	uc003mje.2	-	2	667	c.309A>G	c.(307-309)CTA>CTG	p.L103L		NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	103	Extracellular (Potential).|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|skin(1)	2	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		GGATCTTCGCTAGTCCGTCCA	0.502												
FLT4	2324	broad.mit.edu	37	5	180048190	180048190	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:180048190G>A	uc003mma.3	-	14	2162	c.2083C>T	c.(2083-2085)CTG>TTG	p.L695L	FLT4_uc003mlz.3_Silent_p.L695L|FLT4_uc003mmb.1_Silent_p.L228L|FLT4_uc011dgy.1_Silent_p.L695L	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	695	Ig-like C2-type 7.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGCATCTCCAGCGAGTCGCTC	0.647									Congenital_Hereditary_Lymphedema			
MGAT1	4245	broad.mit.edu	37	5	180218991	180218991	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:180218991C>T	uc003mmg.3	-	2	1476	c.981G>A	c.(979-981)CAG>CAA	p.Q327Q	MGAT1_uc010jlf.2_Silent_p.Q327Q|MGAT1_uc010jlg.2_Silent_p.Q327Q|MGAT1_uc003mmh.3_Silent_p.Q327Q|MGAT1_uc010jlh.2_Silent_p.Q327Q|MGAT1_uc003mmi.3_Silent_p.Q327Q	NM_002406	NP_002397	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein	327	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(1)	1	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTTGAGGTGCTGGTCAAAGA	0.597												
BTNL9	153579	broad.mit.edu	37	5	180486594	180486594	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:180486594G>A	uc003mmt.2	+	11	1571	c.1340G>A	c.(1339-1341)CGG>CAG	p.R447Q		NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9 precursor	447	Cytoplasmic (Potential).|B30.2/SPRY.					integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGCCCCCGCGGCGCCTGGGC	0.692												
HUS1B	135458	broad.mit.edu	37	6	656665	656665	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:656665C>T	uc003mtg.2	-	1	300	c.280G>A	c.(280-282)GCA>ACA	p.A94T	EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint protein B	94											0	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GCGCCCGCTGCGCTTCTCGCC	0.692												
HUS1B	135458	broad.mit.edu	37	6	656846	656846	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:656846G>A	uc003mtg.2	-	1	119	c.99C>T	c.(97-99)CGC>CGT	p.R33R	EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint protein B	33											0	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CAGGGCGCACGCGGAGCACGC	0.662												
FOXF2	2295	broad.mit.edu	37	6	1390547	1390547	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:1390547C>T	uc003mtm.2	+	1	479	c.365C>T	c.(364-366)ACG>ATG	p.T122M	FOXF2_uc003mtn.2_Missense_Mutation_p.T122M	NM_001452	NP_001443	Q12947	FOXF2_HUMAN	forkhead box F2	122	Fork-head.				epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		AAGCGCCTGACGCTCAGCGAG	0.652												
RIPK1	8737	broad.mit.edu	37	6	3085497	3085497	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:3085497T>C	uc010jni.2	+	6	925	c.693T>C	c.(691-693)GCT>GCC	p.A231A	RIPK1_uc003muv.3_Silent_p.A68A|RIPK1_uc003muw.3_Silent_p.A166A|RIPK1_uc011dhs.1_Silent_p.A185A|RIPK1_uc003mux.2_Silent_p.A231A	NM_003804	NP_003795	Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine	231	Protein kinase.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			large_intestine(3)|lung(1)|skin(1)	5	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TTGTAGATGCTATCTGTGAGC	0.438												
PRPF4B	8899	broad.mit.edu	37	6	4044084	4044084	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:4044084T>C	uc003mvv.2	+	6	1779	c.1688T>C	c.(1687-1689)GTG>GCG	p.V563A	PRPF4B_uc003mvw.2_RNA|PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	563						catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AACATGTCTGTGCCATCTGAA	0.393												
NUP153	9972	broad.mit.edu	37	6	17629625	17629625	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:17629625A>G	uc003ncd.1	-	18	3005	c.2805T>C	c.(2803-2805)GGT>GGC	p.G935G	NUP153_uc011dje.1_Silent_p.G966G|NUP153_uc010jpl.1_Silent_p.G893G	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	935					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CGGATGACACACCTATTTTGA	0.378												
GPLD1	2822	broad.mit.edu	37	6	24436838	24436838	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:24436838C>T	uc003ned.1	-	22	2435	c.2324G>A	c.(2323-2325)TGC>TAC	p.C775Y		NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	775						extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3						CCATGATTTGCATTTGCCAGT	0.408												
KIAA0319	9856	broad.mit.edu	37	6	24569143	24569143	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:24569143A>G	uc011djo.1	-	13	2243	c.2006T>C	c.(2005-2007)GTG>GCG	p.V669A	KIAA0319_uc011djp.1_Missense_Mutation_p.V624A|KIAA0319_uc003neh.1_Missense_Mutation_p.V669A|KIAA0319_uc011djq.1_Missense_Mutation_p.V660A|KIAA0319_uc011djr.1_Missense_Mutation_p.V669A|KIAA0319_uc010jpt.1_Missense_Mutation_p.V80A	NM_014809	NP_055624	Q5VV43	K0319_HUMAN	KIAA0319 precursor	669	PKD 4.|Extracellular (Potential).				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)|skin(1)	2						TTCCATCTCCACTGCACTGGG	0.473												
HIST1H1A	3024	broad.mit.edu	37	6	26017954	26017954	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:26017954C>T	uc003nfo.2	-	1	87	c.7G>A	c.(7-9)GAA>AAA	p.E3K	HIST1H3A_uc003nfp.1_5'Flank	NM_005325	NP_005316	Q02539	H11_HUMAN	histone cluster 1, H1a	3					nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			ovary(2)	2						GGCACTGTTTCAGACATGGTG	0.517											OREG0017237	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HIST1H4G	8369	broad.mit.edu	37	6	26247036	26247036	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:26247036C>T	uc003nhf.2	-	1	170	c.170G>A	c.(169-171)CGG>CAG	p.R57Q		NM_003547	NP_003538	Q99525	H4G_HUMAN	histone cluster 1, H4g	57					nucleosome assembly	nucleosome|nucleus	DNA binding				0		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CTTGAACACCCGGCGGGTCTC	0.582												
BTN3A3	10384	broad.mit.edu	37	6	26444334	26444334	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:26444334T>C	uc003nhz.2	+	4	415	c.235T>C	c.(235-237)TAT>CAT	p.Y79H	BTN3A3_uc003nia.2_Missense_Mutation_p.Y37H|BTN3A3_uc011dkn.1_Missense_Mutation_p.Y37H	NM_006994	NP_008925	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3 isoform a	79	Extracellular (Potential).|Ig-like V-type 1.					integral to membrane					0						GGTGAACGTGTATGCAGATGG	0.567												
ZNF391	346157	broad.mit.edu	37	6	27368839	27368839	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:27368839C>T	uc003njf.1	+	3	1208	c.690C>T	c.(688-690)TTC>TTT	p.F230F		NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	230	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(2)|skin(1)	3						GGAAAGCCTTCGGTGACCGTT	0.428												
HIST1H2AM	8336	broad.mit.edu	37	6	27860700	27860700	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:27860700C>T	uc003nkb.1	-	1	264	c.228G>A	c.(226-228)AAG>AAA	p.K76K	HIST1H3J_uc003nka.2_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank	NM_003514	NP_003505	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	76					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			ovary(2)	2						TGATGCGGGTCTTTTTGTTGT	0.642												
SCAND3	114821	broad.mit.edu	37	6	28541269	28541269	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:28541269A>G	uc003nlo.2	-	4	3015	c.2397T>C	c.(2395-2397)AGT>AGC	p.S799S		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	799					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						tcaattcactactctttcttt	0												
HLA-A	3105	broad.mit.edu	37	6	29911150	29911150	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:29911150T>C	uc003nol.2	+	3	449	c.449T>C	c.(448-450)CTG>CCG	p.L150P	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_RNA|HLA-A_uc010jrq.2_Missense_Mutation_p.L29P|HLA-A_uc003nok.2_Missense_Mutation_p.L29P|HLA-A_uc003non.2_Missense_Mutation_p.L150P|HLA-A_uc003noo.2_Missense_Mutation_p.L150P|HLA-A_uc010jrr.2_Missense_Mutation_p.L150P|HLA-A_uc003nom.2_Missense_Mutation_p.L29P|HLA-A_uc010klp.2_Missense_Mutation_p.L122P|HLA-A_uc011dmc.1_Missense_Mutation_p.L29P|HLA-A_uc011dmd.1_Missense_Mutation_p.L29P	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	150	Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2						TACATCGCCCTGAACGAGGAC	0.647									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)		
TRIM40	135644	broad.mit.edu	37	6	30114888	30114888	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:30114888G>A	uc003npk.2	+	4	954	c.568G>A	c.(568-570)GCC>ACC	p.A190T	TRIM40_uc003npm.2_Missense_Mutation_p.A161T	NM_138700	NP_619645	Q6P9F5	TRI40_HUMAN	tripartite motif-containing 40	190						intracellular	zinc ion binding			ovary(1)	1						AGCAGAAGCGGCCAGAATCCT	0.592												
KIAA1949	170954	broad.mit.edu	37	6	30653521	30653521	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:30653521C>T	uc003nra.2	-	2	506	c.275G>A	c.(274-276)CGG>CAG	p.R92Q	KIAA1949_uc003nrb.3_Missense_Mutation_p.R92Q	NM_001134870	NP_001128342	Q6NYC8	PHTNS_HUMAN	phostensin	92						cytoplasm|cytoskeleton	actin binding				0						ccgctcctgcCGGATGAATCG	0.532												
MDC1	9656	broad.mit.edu	37	6	30680469	30680469	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:30680469G>A	uc003nrg.3	-	5	1690	c.1250C>T	c.(1249-1251)GCA>GTA	p.A417V	MDC1_uc003nrf.3_Missense_Mutation_p.A71V|MDC1_uc011dmp.1_Missense_Mutation_p.A289V|MDC1_uc003nrh.1_Missense_Mutation_p.A289V|MDC1_uc003nri.2_Missense_Mutation_p.A417V	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	417	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						TTTCAGATGTGCCAAAGTCAG	0.532								Other_conserved_DNA_damage_response_genes				
HLA-C	3107	broad.mit.edu	37	6	31239447	31239447	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:31239447T>C	uc003nsy.2	-	2	279	c.272A>G	c.(271-273)TAC>TGC	p.Y91C	HLA-C_uc011dnj.1_Missense_Mutation_p.Y63C|HLA-C_uc003nsx.2_5'UTR|HLA-C_uc003nsz.2_Missense_Mutation_p.Y91C|HLA-C_uc010jsl.2_Missense_Mutation_p.Y91C|HLA-C_uc003nta.2_Missense_Mutation_p.Y91C|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_5'UTR|HLA-B_uc003ntf.2_Intron	NM_002117	NP_002108	Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	91	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex					0						CTGGCGCTTGTACTTCTGTGT	0.701												
AIF1	199	broad.mit.edu	37	6	31584673	31584673	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:31584673C>T	uc003nuy.2	+	6	514	c.440C>T	c.(439-441)CCC>CTC	p.P147L	AIF1_uc010jsy.2_3'UTR|AIF1_uc003nva.2_Missense_Mutation_p.P93L	NM_001623	NP_001614	P55008	AIF1_HUMAN	allograft inflammatory factor 1 isoform 3	147				KEKPTGPPAKKAISELP -> RKTNTPPSQESPI (in Ref. 2; AAA92457).	actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation	nucleus|ruffle membrane	actin filament binding|calcium ion binding			ovary(1)	1						TCTGAGTTGCCCTGATTTGAA	0.448												
BAT3	7917	broad.mit.edu	37	6	31608183	31608183	+	Silent	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:31608183A>C	uc003nvg.3	-	22	3341	c.3027T>G	c.(3025-3027)CCT>CCG	p.P1009P	BAT3_uc003nvf.3_Silent_p.P1003P|BAT3_uc003nvh.3_Silent_p.P1003P|BAT3_uc003nvi.3_Silent_p.P1003P|BAT3_uc011dnw.1_Silent_p.P1003P|BAT3_uc011dnx.1_Intron	NM_004639	NP_004630	P46379	BAG6_HUMAN	HLA-B associated transcript-3 isoform a	1009					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding				0						CAGCTGCCCAAGGTTCTGTCT	0.557												
BAT5	7920	broad.mit.edu	37	6	31668789	31668789	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:31668789G>A	uc003nvy.1	-	4	303	c.273C>T	c.(271-273)TCC>TCT	p.S91S	BAT5_uc003nvx.1_5'UTR|BAT5_uc011dny.1_Silent_p.S58S|BAT5_uc003nvz.1_5'UTR|BAT5_uc011dnz.1_5'UTR|BAT5_uc010jtc.1_RNA|BAT5_uc011doa.1_5'UTR	NM_021160	NP_066983	O95870	ABHGA_HUMAN	HLA-B associated transcript 5	91						integral to membrane	hydrolase activity|protein binding				0						GCACCACTTTGGACAAACTCA	0.552												
RDBP	7936	broad.mit.edu	37	6	31922385	31922385	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:31922385C>T	uc003nyk.2	-	7	893	c.689G>A	c.(688-690)CGG>CAG	p.R230Q	RDBP_uc011dot.1_Missense_Mutation_p.R200Q|RDBP_uc003nyl.1_Missense_Mutation_p.R170Q|RDBP_uc003nym.1_Missense_Mutation_p.R225Q	NM_002904	NP_002895	P18615	NELFE_HUMAN	RD RNA-binding protein	230	30 X 2 AA approximate tandem repeats of R-[DSNE].|24.				positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	nucleotide binding|protein binding|RNA binding				0						atccctgtcccgttcccggtc	0.149												
HLA-DRA	3122	broad.mit.edu	37	6	32410986	32410986	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:32410986C>T	uc003obh.2	+	3	434	c.353C>T	c.(352-354)ACG>ATG	p.T118M	HLA-DRA_uc003obi.2_Intron	NM_019111	NP_061984	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR	118	Ig-like C1-type.|Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			ovary(1)|skin(1)	2						ACTGTGCTCACAAACAGCCCT	0.512									T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Kaposi_Sarcoma_Familial_Clustering_of			
TAP2	6891	broad.mit.edu	37	6	32782224	32782224	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:32782224G>A	uc011dqf.1	-	14	2459	c.2337C>T	c.(2335-2337)GGC>GGT	p.G779G	HLA-DOB_uc003oca.2_Silent_p.G172G|HLA-DOB_uc011dqg.1_Silent_p.G172G	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	Error:Variant_position_missing_in_Q03519_after_alignment					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0						TCCTGATAGGGCCAGTGGACA	0.522												
BRD2	6046	broad.mit.edu	37	6	32946137	32946137	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:32946137T>C	uc003ocn.3	+	10	3514	c.1813T>C	c.(1813-1815)TTT>CTT	p.F605L	BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Missense_Mutation_p.F605L|BRD2_uc003ocp.3_Missense_Mutation_p.F485L|BRD2_uc010juh.2_Missense_Mutation_p.F605L	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	605					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CCCTTCTGGCTTTGGACCTTC	0.542												
BRD2	6046	broad.mit.edu	37	6	32948188	32948188	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:32948188G>A	uc003ocn.3	+	12	3917	c.2216G>A	c.(2215-2217)CGG>CAG	p.R739Q	BRD2_uc003ocq.3_Missense_Mutation_p.R739Q|BRD2_uc003ocp.3_Missense_Mutation_p.R619Q|BRD2_uc010juh.2_Missense_Mutation_p.R774Q	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	739	ET.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TTAGAAAAGCGGTTACAAGAT	0.413												
COL11A2	1302	broad.mit.edu	37	6	33133489	33133489	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:33133489C>T	uc003ocx.1	-	63	4815	c.4587G>A	c.(4585-4587)CCG>CCA	p.P1529P	COL11A2_uc010jul.1_Silent_p.P99P|COL11A2_uc003ocy.1_Silent_p.P1443P|COL11A2_uc003ocz.1_Silent_p.P1422P	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1529					cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						CTCCCCCGGTCGGTATGGCCT	0.647												
VPS52	6293	broad.mit.edu	37	6	33236883	33236883	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:33236883T>C	uc003odm.1	-	6	666	c.456A>G	c.(454-456)GGA>GGG	p.G152G	VPS52_uc003odn.1_Silent_p.G27G|VPS52_uc003odo.1_Silent_p.G77G|VPS52_uc011dqy.1_Silent_p.G27G|VPS52_uc011dqz.1_Silent_p.G27G|RPS18_uc003odp.1_5'Flank|RPS18_uc010jum.1_5'Flank	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52	152					protein transport	endosome membrane|Golgi apparatus				ovary(4)|skin(1)	5						TGTTCATGGCTCCTGACTGTT	0.537												
RGL2	5863	broad.mit.edu	37	6	33259893	33259893	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:33259893G>A	uc003odv.2	-	18	2453	c.2320C>T	c.(2320-2322)CGG>TGG	p.R774W	WDR46_uc003ods.2_5'Flank|WDR46_uc011dra.1_5'Flank|RGL2_uc003odu.2_Missense_Mutation_p.R334W|RGL2_uc010jur.2_Missense_Mutation_p.R334W|RGL2_uc003odw.2_Missense_Mutation_p.R692W	NM_004761	NP_004752	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation	774					Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			skin(3)|lung(1)|breast(1)|pancreas(1)	6						AACAGTGCCCGTGCAATCTTC	0.562												
DAXX	1616	broad.mit.edu	37	6	33287897	33287897	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:33287897T>C	uc003oec.2	-	5	1560	c.1356A>G	c.(1354-1356)GAA>GAG	p.E452E	ZBTB22_uc003oeb.2_5'Flank|ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Silent_p.E377E|DAXX_uc011dre.1_Silent_p.E464E|DAXX_uc003oed.2_Silent_p.E452E	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform a	452	Asp/Glu-rich (acidic).|Potential.|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						cctcttcttcttcctcctcct	0.239			Mis|F|N		Pancreatic neuroendocrine tumors							
DAXX	1616	broad.mit.edu	37	6	33288217	33288217	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:33288217C>T	uc003oec.2	-	4	1395	c.1191G>A	c.(1189-1191)CGG>CGA	p.R397R	ZBTB22_uc003oeb.2_5'Flank|ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Silent_p.R322R|DAXX_uc011dre.1_Silent_p.R409R|DAXX_uc003oed.2_Silent_p.R397R|DAXX_uc010juw.2_Silent_p.R322R	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform a	397	Potential.|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						TGCCTTGGAGCCGAGCTCTTC	0.532			Mis|F|N		Pancreatic neuroendocrine tumors							
SYNGAP1	8831	broad.mit.edu	37	6	33400582	33400582	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:33400582C>T	uc011dri.1	+	5	703	c.508C>T	c.(508-510)CGG>TGG	p.R170W	SYNGAP1_uc003oeo.1_Missense_Mutation_p.R155W|SYNGAP1_uc010juy.2_Missense_Mutation_p.R155W	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	170	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						TGACCATGACCGGTACAGGGG	0.527												
SYNGAP1	8831	broad.mit.edu	37	6	33411637	33411637	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:33411637G>A	uc011dri.1	+	15	3503	c.3308G>A	c.(3307-3309)CGT>CAT	p.R1103H	SYNGAP1_uc010juy.2_Missense_Mutation_p.R1074H|SYNGAP1_uc010juz.2_Missense_Mutation_p.R815H	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	1103					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						GGCCCCGCCCGTCCACGGCAA	0.662												
ITPR3	3710	broad.mit.edu	37	6	33638551	33638551	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:33638551G>A	uc011drk.1	+	20	2764	c.2545G>A	c.(2545-2547)GTG>ATG	p.V849M		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	849	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						CAGCGAGGCCGTGCCCTTTGC	0.567												
TEAD3	7005	broad.mit.edu	37	6	35443481	35443481	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:35443481G>A	uc003oku.3	-	11	1139	c.903C>T	c.(901-903)GCC>GCT	p.A301A	TEAD3_uc003okt.2_Silent_p.A190A|TEAD3_uc010jvx.2_Silent_p.A241A	NM_003214	NP_003205	Q99594	TEAD3_HUMAN	TEA domain family member 3	301	Transcriptional activation (Potential).				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TGTTGAGGTCGGCCTGGGCAT	0.602												
PNPLA1	285848	broad.mit.edu	37	6	36274154	36274154	+	Splice_Site	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:36274154G>A	uc010jwf.2	+	7	1469	c.1469_splice	c.e7+1	p.T490_splice	PNPLA1_uc003olw.1_Splice_Site_p.T395_splice|PNPLA1_uc010jwe.1_Splice_Site_p.T404_splice	NM_001145717	NP_001139189	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1						lipid catabolic process		hydrolase activity			large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4						CTTATGTAACGTAAGTTTCCC	0.493												
MDGA1	266727	broad.mit.edu	37	6	37626035	37626035	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:37626035C>T	uc003onu.1	-	3	1547	c.368G>A	c.(367-369)CGC>CAC	p.R123H		NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	123	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2						CACGTCCACGCGGATGGACTT	0.682												
FRS3	10817	broad.mit.edu	37	6	41739124	41739124	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:41739124C>A	uc003orc.1	-	7	956	c.712G>T	c.(712-714)GGC>TGC	p.G238C		NM_006653	NP_006644	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	238					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			ovary(2)	2	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTCACCTGGCCTGGCTGCAAG	0.672												
CCND3	896	broad.mit.edu	37	6	41903835	41903835	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:41903835C>T	uc003orn.2	-	5	887	c.722G>A	c.(721-723)CGG>CAG	p.R241Q	CCND3_uc003orp.2_Missense_Mutation_p.R160Q|CCND3_uc011duk.1_Missense_Mutation_p.R45Q|CCND3_uc003orm.2_Missense_Mutation_p.R191Q|CCND3_uc003oro.2_Missense_Mutation_p.R169Q	NM_001760	NP_001751	P30281	CCND3_HUMAN	cyclin D3 isoform 2	241					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding				0	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGACAGGCCCGCAGGCAGTC	0.642			T	IGH@	MM						OREG0017437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GUCA1A	2978	broad.mit.edu	37	6	42146991	42146991	+	Silent	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:42146991C>A	uc003orx.2	+	6	1101	c.456C>A	c.(454-456)TCC>TCA	p.S152S	GUCA1A_uc011duo.1_RNA|GUCA1A_uc010jxt.2_Silent_p.S152S	NM_000409	NP_000400	P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	152	EF-hand 4.|3 (Potential).				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity				0	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGGAACTCTCCCTGGAAGAGT	0.582												
GUCA1B	2979	broad.mit.edu	37	6	42152629	42152629	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:42152629A>G	uc003orz.2	-	4	663	c.527T>C	c.(526-528)GTG>GCG	p.V176A		NM_002098	NP_002089	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	176	EF-hand 4.				body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			skin(2)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			CATCTTCATCACCCACTTGTC	0.577												
KIAA0240	23506	broad.mit.edu	37	6	42797828	42797828	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:42797828G>A	uc003osn.1	+	6	1908	c.1757G>A	c.(1756-1758)CGT>CAT	p.R586H	KIAA0240_uc003osm.1_Missense_Mutation_p.R586H|KIAA0240_uc011duw.1_Missense_Mutation_p.R586H|KIAA0240_uc003oso.1_Missense_Mutation_p.R586H|KIAA0240_uc003osp.1_Missense_Mutation_p.R586H	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	hypothetical protein LOC23506	586										ovary(1)	1	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			GTGTCTCATCGTCTTCCAGTT	0.488												
PEX6	5190	broad.mit.edu	37	6	42933450	42933450	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:42933450G>A	uc003otf.2	-	13	2533	c.2440C>T	c.(2440-2442)CGA>TGA	p.R814*	PEX6_uc010jya.2_RNA	NM_000287	NP_000278	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	814					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)	1			all cancers(41;0.00235)|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;0.0562)			TCTCCACTTCGCCCCCGGCTT	0.562												
PEX6	5190	broad.mit.edu	37	6	42946217	42946217	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:42946217C>A	uc003otf.2	-	1	765	c.672G>T	c.(670-672)TGG>TGT	p.W224C	PEX6_uc010jya.2_RNA	NM_000287	NP_000278	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	224					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)	1			all cancers(41;0.00235)|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;0.0562)			CCTGGGCCACCCACACCCATT	0.627												
PTK7	5754	broad.mit.edu	37	6	43113108	43113108	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:43113108C>T	uc003oub.1	+	16	2776	c.2578C>T	c.(2578-2580)CGG>TGG	p.R860W	PTK7_uc003ouc.1_Missense_Mutation_p.R804W|PTK7_uc003oud.1_Missense_Mutation_p.R820W|PTK7_uc003oue.1_Missense_Mutation_p.R730W|PTK7_uc003ouf.1_Intron|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Missense_Mutation_p.R868W|PTK7_uc010jyj.1_Missense_Mutation_p.R186W	NM_002821	NP_002812	Q13308	PTK7_HUMAN	PTK7 protein tyrosine kinase 7 isoform a	860	Cytoplasmic (Potential).|Protein kinase; inactive.|Interaction with CTNNB1.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			ovary(2)|large_intestine(1)	3			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CAACGTGGTGCGGCTCCTGGG	0.607												
ZNF318	24149	broad.mit.edu	37	6	43323194	43323194	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:43323194T>C	uc003oux.2	-	4	1956	c.1878A>G	c.(1876-1878)TTA>TTG	p.L626L	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	626					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTGAGGAGCGTAATGATGGCT	0.517												
XPO5	57510	broad.mit.edu	37	6	43494448	43494448	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:43494448A>G	uc003ovp.2	-	27	3169	c.2958T>C	c.(2956-2958)AGT>AGC	p.S986S	POLR1C_uc003ovo.1_Intron	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	exportin 5	986					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			skin(2)|breast(1)|kidney(1)	4	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GGGGAGCACTACTGTGGTCAG	0.498												
CDC5L	988	broad.mit.edu	37	6	44360532	44360532	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:44360532C>T	uc003oxl.2	+	3	537	c.278C>T	c.(277-279)GCG>GTG	p.A93V		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	93	H-T-H motif (By similarity).|HTH myb-type 2.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGAAGAACAGCGGCCCAGTGC	0.413												
CYP39A1	51302	broad.mit.edu	37	6	46620180	46620180	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:46620180T>C	uc003oyf.1	-	1	344	c.140A>G	c.(139-141)AAA>AGA	p.K47R	CYP39A1_uc011dwa.1_Missense_Mutation_p.K47R|CYP39A1_uc010jzd.1_5'UTR|SLC25A27_uc011dwb.1_5'Flank|SLC25A27_uc003oyg.2_5'Flank|SLC25A27_uc003oyh.2_5'Flank|SLC25A27_uc011dwc.1_5'Flank	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A,	47					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(1)	1						TAGAGGGGCTTTCCCAAACTC	0.458												
PLA2G7	7941	broad.mit.edu	37	6	46679343	46679343	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:46679343A>G	uc010jzf.2	-	7	822	c.553T>C	c.(553-555)TCT>CCT	p.S185P	PLA2G7_uc010jzg.1_Missense_Mutation_p.S185P|PLA2G7_uc011dwd.1_Missense_Mutation_p.S140P|PLA2G7_uc011dwe.1_Missense_Mutation_p.S58P	NM_005084	NP_005075	Q13093	PAFA_HUMAN	phospholipase A2, group VII	185					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding				0			Lung(136;0.192)			TAAGTTGCAGATGCAGATCTA	0.413												
DEFB110	245913	broad.mit.edu	37	6	49986805	49986805	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:49986805T>C	uc003pac.2	-	2	135	c.89A>G	c.(88-90)GAC>GGC	p.D30G	DEFB110_uc011dwr.1_Intron	NM_001037497	NP_001032586	Q30KQ9	DB110_HUMAN	beta-defensin 110 isoform a	30					defense response to bacterium	extracellular region				ovary(1)	1	Lung NSC(77;0.042)					TCTCCTCAAGTCCAAGCTACC	0.373												
GCLC	2729	broad.mit.edu	37	6	53370226	53370226	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:53370226A>G	uc003pbw.1	-	12	1747	c.1359T>C	c.(1357-1359)CTT>CTC	p.L453L	GCLC_uc003pbv.1_Silent_p.L177L	NM_001498	NP_001489	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	453					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			ovary(1)|central_nervous_system(1)	2	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	ATTTGTAGGAAAGGATCACTC	0.368												
BAI3	577	broad.mit.edu	37	6	70070871	70070871	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:70070871A>T	uc003pev.3	+	29	4154	c.3706A>T	c.(3706-3708)AGC>TGC	p.S1236C	BAI3_uc010kak.2_Missense_Mutation_p.S1236C|BAI3_uc011dxx.1_Missense_Mutation_p.S442C	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1236	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				TGAAGGGCTAAGCTATTCAAC	0.433												
COL9A1	1297	broad.mit.edu	37	6	71004132	71004132	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:71004132T>G	uc003pfg.3	-	5	593	c.434A>C	c.(433-435)AAG>ACG	p.K145T		NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	145	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						GCCATTAATCTTTATGCCAAC	0.428												
RIMS1	22999	broad.mit.edu	37	6	73100438	73100438	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:73100438A>C	uc003pga.2	+	30	4582	c.4505A>C	c.(4504-4506)AAT>ACT	p.N1502T	RIMS1_uc011dyb.1_Missense_Mutation_p.N899T|RIMS1_uc003pgc.2_Missense_Mutation_p.N951T|RIMS1_uc010kaq.2_Missense_Mutation_p.N822T|RIMS1_uc011dyc.1_Missense_Mutation_p.N627T|RIMS1_uc010kar.2_Missense_Mutation_p.N570T|RIMS1_uc011dyd.1_Missense_Mutation_p.N636T|RIMS1_uc003pgf.2_Missense_Mutation_p.N502T|RIMS1_uc003pgg.2_Missense_Mutation_p.N398T|RIMS1_uc003pgi.2_Missense_Mutation_p.N318T|RIMS1_uc003pgh.2_Missense_Mutation_p.N369T|RIMS1_uc003pgd.2_Missense_Mutation_p.N568T|RIMS1_uc003pge.2_Missense_Mutation_p.N542T|RIMS1_uc011dye.1_Missense_Mutation_p.N308T|RIMS1_uc011dyf.1_Missense_Mutation_p.N126T|RIMS1_uc011dyg.1_Missense_Mutation_p.N29T	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1502					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TCTGAGGGCAAGTAAGTGCTG	0.483												
DPPA5	340168	broad.mit.edu	37	6	74063580	74063580	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:74063580C>T	uc003pgs.1	-	2	293	c.288G>A	c.(286-288)GAG>GAA	p.E96E		NM_001025290	NP_001020461	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	96					multicellular organismal development	cytoplasm	RNA binding				0						TCTCACCTCGCTCCTGGCGCT	0.637												
PHIP	55023	broad.mit.edu	37	6	79655139	79655139	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:79655139C>T	uc003pir.2	-	39	4932	c.4706G>A	c.(4705-4707)GGC>GAC	p.G1569D	PHIP_uc003piq.2_Missense_Mutation_p.G593D|PHIP_uc011dyp.1_Missense_Mutation_p.G1568D|IRAK1BP1_uc010kbg.1_RNA|PHIP_uc003pio.3_Missense_Mutation_p.G455D	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1569					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ATTCCTAGTGCCATGACTAAA	0.358												
PGM3	5238	broad.mit.edu	37	6	83891504	83891504	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:83891504A>G	uc003pjv.2	-	6	778	c.738T>C	c.(736-738)AAT>AAC	p.N246N	PGM3_uc003pjw.2_Silent_p.N165N|PGM3_uc011dyz.1_Silent_p.N274N	NM_015599	NP_056414	O95394	AGM1_HUMAN	phosphoglucomutase 3	246					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity				0		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		CACATAAATGATTGAGTTTGC	0.438												
GABRR1	2569	broad.mit.edu	37	6	89888745	89888745	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:89888745G>A	uc003pna.2	-	10	1639	c.1184C>T	c.(1183-1185)GCG>GTG	p.A395V	GABRR1_uc011dzv.1_Missense_Mutation_p.A372V	NM_002042	NP_002033	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 1	395	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			pancreas(1)	1		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	GTCCAGCATCGCAGTGCGGGG	0.547												
MDN1	23195	broad.mit.edu	37	6	90499923	90499923	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:90499923A>G	uc003pnn.1	-	6	1169	c.1053T>C	c.(1051-1053)CCT>CCC	p.P351P	MDN1_uc003pnp.1_Silent_p.P351P	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	351					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GAAGCTGAGGAGGCTTTGTTC	0.413												
CASP8AP2	9994	broad.mit.edu	37	6	90572134	90572134	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:90572134G>A	uc003pnr.2	+	7	902	c.706G>A	c.(706-708)GAG>AAG	p.E236K	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.E236K|CASP8AP2_uc011dzz.1_Missense_Mutation_p.E236K	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	236					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TCAGGTTGGCGAGGGTAGCTC	0.388												
EPHA7	2045	broad.mit.edu	37	6	94120499	94120499	+	Silent	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:94120499A>C	uc003poe.2	-	3	793	c.552T>G	c.(550-552)CTT>CTG	p.L184L	EPHA7_uc003pof.2_Silent_p.L184L|EPHA7_uc011eac.1_Silent_p.L184L|EPHA7_uc003pog.3_Silent_p.L184L	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	184	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCTGAAAGGCAAGATAGAATC	0.413												
MANEA	79694	broad.mit.edu	37	6	96053641	96053641	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:96053641C>T	uc003poo.1	+	5	889	c.749C>T	c.(748-750)GCC>GTC	p.A250V		NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	250	Catalytic (Probable).|Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			ovary(2)|breast(1)	3		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		AATCATCCGGCCTTTTACAGG	0.348												
KIAA0776	23376	broad.mit.edu	37	6	96974275	96974275	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:96974275T>C	uc003por.2	+	5	477	c.429T>C	c.(427-429)TGT>TGC	p.C143C	KIAA0776_uc010kck.2_RNA	NM_015323	NP_056138	O94874	UFL1_HUMAN	hypothetical protein LOC23376	143	Required for E3 UFM1-protein ligase activity.|Involved in CDK5RAP3-binding.				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity			ovary(1)	1		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0934)		CAGAACTGTGTAAAACTTATG	0.333												
SIM1	6492	broad.mit.edu	37	6	100896103	100896103	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:100896103G>T	uc003pqj.3	-	7	976	c.769C>A	c.(769-771)CCT>ACT	p.P257T	SIM1_uc010kcu.2_Missense_Mutation_p.P257T	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	257	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGGTCCTGAGGTTCGTACCCC	0.642												
ASCC3	10973	broad.mit.edu	37	6	101049723	101049723	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:101049723A>G	uc003pqk.2	-	34	5595	c.5266T>C	c.(5266-5268)TGG>CGG	p.W1756R		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1756					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AAGTAAGTCCAGGTGATATAA	0.378												
BVES	11149	broad.mit.edu	37	6	105563668	105563668	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:105563668C>T	uc003pqw.2	-	7	1008	c.851G>A	c.(850-852)TGC>TAC	p.C284Y	BVES_uc003pqx.2_Missense_Mutation_p.C284Y|BVES_uc003pqy.2_Missense_Mutation_p.C284Y	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance isoform 5	284	Cytoplasmic (Potential).				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity				0		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				GATCTGTGTGCAGAGGCTGAG	0.458												
PRDM1	639	broad.mit.edu	37	6	106552778	106552778	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:106552778A>G	uc003prd.2	+	5	977	c.743A>G	c.(742-744)TAC>TGC	p.Y248C	PRDM1_uc003pre.2_Missense_Mutation_p.Y114C	NM_001198	NP_001189	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain isoform	248					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AAGAGAGAGTACAGCGTGAAA	0.448			D|N|Mis|F|S		DLBCL							
WASF1	8936	broad.mit.edu	37	6	110423338	110423338	+	Silent	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:110423338T>G	uc003ptv.1	-	10	1812	c.975A>C	c.(973-975)CCA>CCC	p.P325P	WASF1_uc003ptw.1_Silent_p.P325P|WASF1_uc003ptx.1_Silent_p.P325P|WASF1_uc003pty.1_Silent_p.P325P	NM_003931	NP_003922	Q92558	WASF1_HUMAN	Wiskott-Aldrich syndrome protein family member	325	Poly-Pro.				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding				0		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GTGGAGGAGGTGGGGGAGTGG	0.517												
CDC40	51362	broad.mit.edu	37	6	110530384	110530384	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:110530384G>T	uc003pua.2	+	5	612	c.588G>T	c.(586-588)TGG>TGT	p.W196C		NM_015891	NP_056975	O60508	PRP17_HUMAN	cell division cycle 40 homolog	196					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm					0		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		TGGGACCATGGGCAAAATATG	0.333												
REV3L	5980	broad.mit.edu	37	6	111697457	111697457	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:111697457T>C	uc003puy.3	-	13	2424	c.2101A>G	c.(2101-2103)ACA>GCA	p.T701A	REV3L_uc003pux.3_Missense_Mutation_p.T623A|REV3L_uc003puz.3_Missense_Mutation_p.T623A	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	701					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTGCCCAATGTATTCTCGTTA	0.333								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
FYN	2534	broad.mit.edu	37	6	112025235	112025235	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:112025235T>C	uc003pvj.2	-	6	854	c.514A>G	c.(514-516)ACC>GCC	p.T172A	FYN_uc003pvi.2_Missense_Mutation_p.T172A|FYN_uc003pvk.2_Missense_Mutation_p.T172A|FYN_uc003pvh.2_Missense_Mutation_p.T172A|FYN_uc010kdy.1_5'Flank	NM_002037	NP_002028	P06241	FYN_HUMAN	protein-tyrosine kinase fyn isoform a	172	SH2.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|central_nervous_system(1)|skin(1)	7		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	ATAAGAAAGGTACCTCTTGGG	0.408												
LAMA4	3910	broad.mit.edu	37	6	112460455	112460455	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:112460455T>C	uc003pvu.2	-	24	3458	c.3149A>G	c.(3148-3150)TAC>TGC	p.Y1050C	LAMA4_uc003pvv.2_Missense_Mutation_p.Y1043C|LAMA4_uc003pvt.2_Missense_Mutation_p.Y1043C	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	1050	Laminin G-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ATCGAAGAAGTAACTGGCAGC	0.468												
COL10A1	1300	broad.mit.edu	37	6	116442889	116442889	+	Silent	SNP	T	T	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:116442889T>A	uc003pwm.2	-	3	486	c.390A>T	c.(388-390)GGA>GGT	p.G130G	NT5DC1_uc003pwj.2_Intron|NT5DC1_uc003pwk.2_Intron|NT5DC1_uc003pwl.2_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	type X collagen alpha 1 precursor	130	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)	1		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GGCCAGCTGGTCCAACATCTC	0.597												
FAM184A	79632	broad.mit.edu	37	6	119285926	119285926	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:119285926T>G	uc003pyj.2	-	16	3392	c.3044A>C	c.(3043-3045)AAG>ACG	p.K1015T	FAM184A_uc003pyk.3_Missense_Mutation_p.K846T|FAM184A_uc003pyl.3_Intron|FAM184A_uc003pyi.2_RNA	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	1015										ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						CTGATAAAACTTATTATCCTC	0.269												
PTPRK	5796	broad.mit.edu	37	6	128505813	128505813	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:128505813A>G	uc003qbk.2	-	7	1293	c.926T>C	c.(925-927)CTG>CCG	p.L309P	PTPRK_uc003qbj.2_Missense_Mutation_p.L309P|PTPRK_uc010kfc.2_Missense_Mutation_p.L309P|PTPRK_uc011ebu.1_Missense_Mutation_p.L309P|PTPRK_uc003qbl.1_Missense_Mutation_p.L179P|PTPRK_uc011ebv.1_Missense_Mutation_p.L309P	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	309	Fibronectin type-III 1.|Extracellular (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TAGTTGGATCAGCAAATATGT	0.448												
LAMA2	3908	broad.mit.edu	37	6	129781432	129781432	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:129781432C>T	uc003qbn.2	+	48	7060	c.6955C>T	c.(6955-6957)CGA>TGA	p.R2319*	LAMA2_uc003qbo.2_Nonsense_Mutation_p.R2319*	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2319	Laminin G-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTGGAATTTCCGAGAAAAAGA	0.418												
ARG1	383	broad.mit.edu	37	6	131904532	131904532	+	Missense_Mutation	SNP	G	G	A	rs104893948		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:131904532G>A	uc003qcp.1	+	7	761	c.703G>A	c.(703-705)GGA>AGA	p.G235R	ARG1_uc003qco.1_Intron|ARG1_uc010kfm.1_Missense_Mutation_p.G243R|MED23_uc003qcq.2_Intron	NM_000045	NP_000036	P05089	ARGI1_HUMAN	arginase 1	235			G -> R (in ARGIN).		arginine catabolic process|urea cycle	cytosol	arginase activity			ovary(1)	1	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	TGATGTTGACGGACTGGACCC	0.408												
TAAR6	319100	broad.mit.edu	37	6	132892319	132892319	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:132892319A>G	uc011eck.1	+	1	859	c.859A>G	c.(859-861)ATA>GTA	p.I287V		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	287	Helical; Name=7; (Potential).					plasma membrane	G-protein coupled receptor activity			ovary(2)|skin(1)	3	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TATGGGCTTTATAACCCCTGC	0.373												
BCLAF1	9774	broad.mit.edu	37	6	136599456	136599456	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:136599456T>C	uc003qgx.1	-	4	816	c.563A>G	c.(562-564)AAA>AGA	p.K188R	BCLAF1_uc003qgw.1_Missense_Mutation_p.K188R|BCLAF1_uc003qgy.1_Missense_Mutation_p.K186R|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.K186R	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	188					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AAATGTATCTTTCGGTTCCTC	0.413												
KIAA1244	57221	broad.mit.edu	37	6	138584224	138584224	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:138584224G>A	uc003qhu.2	+	12	1604	c.1604G>A	c.(1603-1605)AGT>AAT	p.S535N		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	535					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CACAAGAACAGTCTCAAGTCG	0.557												
TXLNB	167838	broad.mit.edu	37	6	139563773	139563773	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:139563773C>T	uc011eds.1	-	10	2110	c.1945G>A	c.(1945-1947)GAG>AAG	p.E649K		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	taxilin beta	649						cytoplasm				large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CTACTGGGCTCGCATGCAGGC	0.652												
UTRN	7402	broad.mit.edu	37	6	144898277	144898277	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:144898277G>A	uc003qkt.2	+	50	7424	c.7332G>A	c.(7330-7332)ACG>ACA	p.T2444T		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	2444	Spectrin 17.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGTGGAGGACGGTGCAGGCCT	0.498												
FBXO30	84085	broad.mit.edu	37	6	146127271	146127271	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:146127271T>C	uc003qla.2	-	2	470	c.271A>G	c.(271-273)ACT>GCT	p.T91A	uc003qky.1_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	F-box only protein 30	91	TRAF-type.						ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		CATTCCATAGTACAGCACACC	0.423												
SHPRH	257218	broad.mit.edu	37	6	146247355	146247355	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:146247355G>A	uc003qlf.2	-	16	3678	c.3279C>T	c.(3277-3279)GGC>GGT	p.G1093G	SHPRH_uc003qld.2_Silent_p.G1102G|SHPRH_uc003qle.2_Silent_p.G1102G|SHPRH_uc003qlg.1_Silent_p.G649G|SHPRH_uc003qlh.2_Silent_p.G18G|SHPRH_uc003qli.1_Silent_p.G18G	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	1093					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CCTCAAGTCGGCCATCACGCA	0.378												
GRM1	2911	broad.mit.edu	37	6	146755082	146755082	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:146755082G>A	uc010khw.1	+	9	3205	c.2735G>A	c.(2734-2736)CGC>CAC	p.R912H	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_Silent_p.P900P	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	912	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ATGTGGCACCGCCTCTCTGTG	0.507												
SUMO4	387082	broad.mit.edu	37	6	149721537	149721537	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:149721537G>A	uc003qml.2	+	1	43	c.10G>A	c.(10-12)GAA>AAA	p.E4K	TAB2_uc011eec.1_Intron|TAB2_uc003qmj.2_Intron|TAB2_uc003qmk.3_Intron	NM_001002255	NP_001002255	Q6EEV6	SUMO4_HUMAN	SMT3 suppressor of mif two 3 homolog 4	4											0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;7.91e-12)|GBM - Glioblastoma multiforme(68;0.0282)		CATGGCCAACGAAAAGCCCAC	0.507												
ULBP3	79465	broad.mit.edu	37	6	150385828	150385828	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:150385828C>T	uc003qns.3	-	4	650	c.650G>A	c.(649-651)GGC>GAC	p.G217D	ULBP3_uc011eej.1_Missense_Mutation_p.G92D	NM_024518	NP_078794	Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3 precursor	217					antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity				0		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		TTGAGCTAAGCCTGGGGCCAT	0.537												
MTHFD1L	25902	broad.mit.edu	37	6	151281413	151281413	+	Silent	SNP	G	G	A	rs146093887	by1000genomes	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:151281413G>A	uc003qob.2	+	18	2074	c.1806G>A	c.(1804-1806)GCG>GCA	p.A602A	MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Silent_p.A603A|MTHFD1L_uc003qoc.2_Silent_p.A550A	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+	602	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TGGTTCAGGCGCAGTTTGACA	0.612												
AKAP12	9590	broad.mit.edu	37	6	151670579	151670579	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:151670579C>T	uc011eep.1	+	4	1293	c.1053C>T	c.(1051-1053)ACC>ACT	p.T351T	AKAP12_uc003qoe.2_Silent_p.T351T|AKAP12_uc003qof.2_Silent_p.T253T|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Silent_p.T246T	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	351	Involved in PKC-binding (Probable).				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGAAACTGACCGCCTCCGAGC	0.532												
C6orf211	79624	broad.mit.edu	37	6	151775736	151775736	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:151775736T>C	uc003qok.1	+	2	354	c.95T>C	c.(94-96)GTT>GCT	p.V32A	C6orf211_uc011ees.1_Intron|RMND1_uc003qoi.2_5'Flank	NM_024573	NP_078849	Q9H993	CF211_HUMAN	hypothetical protein LOC79624	32							protein binding				0			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TTAACTAAGGTTATTGATACA	0.284												
SYNE1	23345	broad.mit.edu	37	6	152782789	152782789	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:152782789T>C	uc010kiw.2	-	21	2939	c.2337A>G	c.(2335-2337)CAA>CAG	p.Q779Q	SYNE1_uc003qot.3_Silent_p.Q786Q|SYNE1_uc003qou.3_Silent_p.Q779Q|SYNE1_uc010kjb.1_Silent_p.Q762Q|SYNE1_uc003qow.2_Silent_p.Q74Q|SYNE1_uc003qox.1_Silent_p.Q295Q|SYNE1_uc003qoz.2_Silent_p.Q211Q|SYNE1_uc003qoy.2_Silent_p.Q346Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	779	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCCTTCTTCTTGGGGGCTTT	0.423										HNSCC(10;0.0054)		
MYCT1	80177	broad.mit.edu	37	6	153043068	153043068	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:153043068G>A	uc003qpd.3	+	2	396	c.388G>A	c.(388-390)GGC>AGC	p.G130S	MYCT1_uc010kjc.1_Intron|MYCT1_uc003qpc.3_Missense_Mutation_p.G130S	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	myc target 1	130						nucleus				ovary(1)	1		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CCGCCACAGTGGCTGTGAACG	0.507												
TFB1M	51106	broad.mit.edu	37	6	155635562	155635562	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:155635562T>C	uc003qqj.3	-	1	65	c.1A>G	c.(1-3)ATG>GTG	p.M1V	TFB1M_uc003qqk.2_RNA	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			skin(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		GAGGCAGCCATGATACGCGGC	0.577												
ARID1B	57492	broad.mit.edu	37	6	157525016	157525016	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:157525016G>A	uc003qqn.2	+	19	5009	c.4857G>A	c.(4855-4857)TGG>TGA	p.W1619*	ARID1B_uc003qqo.2_Nonsense_Mutation_p.W1579*|ARID1B_uc003qqp.2_Nonsense_Mutation_p.W1566*	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1624					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTGAGGCGTGGCGTGTGATGA	0.403												
C6orf35	729515	broad.mit.edu	37	6	157744464	157744464	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:157744464T>A	uc003sih.3	-	1	331	c.68A>T	c.(67-69)GAC>GTC	p.D23V		NM_018452	NP_060922	Q9NWH2	CF035_HUMAN	hypothetical protein LOC729515	23						integral to membrane					0						GAAAAGCCGGTCATTCGTGGA	0.637												
TULP4	56995	broad.mit.edu	37	6	158923938	158923938	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:158923938C>T	uc003qrf.2	+	13	4600	c.3243C>T	c.(3241-3243)ACC>ACT	p.T1081T	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	1081					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GCGACCGCACCGACTACGTCA	0.682												
RSPH3	83861	broad.mit.edu	37	6	159399367	159399367	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:159399367C>A	uc003qrx.2	-	7	1487	c.1297G>T	c.(1297-1299)GGA>TGA	p.G433*	RSPH3_uc010kju.2_Nonsense_Mutation_p.G337*	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog	433										ovary(1)|skin(1)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GGAAGAAATCCTATCTCAATA	0.308												
IGF2R	3482	broad.mit.edu	37	6	160483631	160483631	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:160483631G>T	uc003qta.2	+	26	3798	c.3650G>T	c.(3649-3651)TGT>TTT	p.C1217F		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1217	8.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GTGGAAGCCTGTCCCGTTGTC	0.458												
RPS6KA2	6196	broad.mit.edu	37	6	166833418	166833418	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:166833418G>A	uc003qvb.1	-	18	1991	c.1772C>T	c.(1771-1773)GCG>GTG	p.A591V	RPS6KA2_uc011ego.1_Missense_Mutation_p.A502V|RPS6KA2_uc010kkl.1_Missense_Mutation_p.A502V|RPS6KA2_uc003qvc.1_Missense_Mutation_p.A599V|RPS6KA2_uc003qvd.1_Missense_Mutation_p.A616V|RPS6KA2_uc010kkk.1_Missense_Mutation_p.A23V	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	591	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GATGTCACACGCCGCATCATA	0.562												
KIF25	3834	broad.mit.edu	37	6	168439368	168439368	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:168439368A>G	uc003qwk.1	+	5	715	c.453A>G	c.(451-453)ACA>ACG	p.T151T	KIF25_uc003qwl.1_Silent_p.T151T	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	kinesin family member 25 isoform 1	151	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(1)|pancreas(1)	2		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		AGGTGGTGACAGCCAAGGATG	0.552												
SUN1	23353	broad.mit.edu	37	7	892561	892561	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:892561C>T	uc011jvp.1	+	10	1104	c.1025C>T	c.(1024-1026)ACG>ATG	p.T342M	GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Missense_Mutation_p.T259M|SUN1_uc011jvq.1_Missense_Mutation_p.T239M|SUN1_uc003sjg.2_Missense_Mutation_p.T247M|SUN1_uc011jvr.1_Missense_Mutation_p.T151M|SUN1_uc003sji.2_Missense_Mutation_p.T180M|SUN1_uc003sjk.2_Translation_Start_Site	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	369	Perinuclear space.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0						TTTAAACCCACGACTTCTCGC	0.562												
ADAP1	11033	broad.mit.edu	37	7	938896	938896	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:938896G>A	uc003sjo.3	-	10	1046	c.870C>T	c.(868-870)GAC>GAT	p.D290D	ADAP1_uc003sjm.3_Silent_p.D116D|ADAP1_uc011jvs.1_Silent_p.D195D|ADAP1_uc003sjn.3_Silent_p.D218D|ADAP1_uc010ksc.2_Silent_p.D218D	NM_006869	NP_006860	O75689	ADAP1_HUMAN	centaurin, alpha 1	290	PH 2.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			upper_aerodigestive_tract(1)	1						GGGCGAAGGCGTCCTGTGGGT	0.687												
INTS1	26173	broad.mit.edu	37	7	1535897	1535897	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:1535897G>A	uc003skn.2	-	12	1707	c.1606C>T	c.(1606-1608)CGC>TGC	p.R536C	INTS1_uc003skp.1_5'Flank	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	536					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)		ACCACGAAGCGCTCCTGCAGG	0.642												
INTS1	26173	broad.mit.edu	37	7	1538426	1538426	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:1538426G>A	uc003skn.2	-	9	1301	c.1200C>T	c.(1198-1200)TCC>TCT	p.S400S	INTS1_uc003skq.2_Silent_p.S400S	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	400					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)		CCATGTCTTCGGAACCGTGCG	0.637												
INTS1	26173	broad.mit.edu	37	7	1539893	1539893	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:1539893G>A	uc003skn.2	-	4	560	c.459C>T	c.(457-459)CGC>CGT	p.R153R	INTS1_uc003skq.2_Silent_p.R153R	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	153					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)		CAGGCTTGGCGCGGGTGACCT	0.632												
CARD11	84433	broad.mit.edu	37	7	2979408	2979408	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:2979408T>G	uc003smv.2	-	6	1243	c.839A>C	c.(838-840)AAC>ACC	p.N280T		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	280	Potential.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CAGCTCCTGGTTTTTGGTCTT	0.557			Mis		DLBCL							
SDK1	221935	broad.mit.edu	37	7	4213858	4213858	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:4213858C>A	uc003smx.2	+	33	4944	c.4805C>A	c.(4804-4806)CCG>CAG	p.P1602Q	SDK1_uc010kso.2_Missense_Mutation_p.P878Q|SDK1_uc003smy.2_Missense_Mutation_p.P89Q	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1602	Fibronectin type-III 10.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TTGCAGCCTCCGAGGGACGAA	0.577												
WIPI2	26100	broad.mit.edu	37	7	5267842	5267842	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:5267842G>A	uc003snv.2	+	11	1337	c.1121G>A	c.(1120-1122)CGG>CAG	p.R374Q	WIPI2_uc003snw.2_Missense_Mutation_p.R374Q|WIPI2_uc003snx.2_Missense_Mutation_p.R356Q|WIPI2_uc003sny.2_Missense_Mutation_p.R356Q|WIPI2_uc010ksv.2_Missense_Mutation_p.R230Q|WIPI2_uc003soa.2_Missense_Mutation_p.R315Q|WIPI2_uc003sob.2_Missense_Mutation_p.R117Q	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	374					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			ovary(2)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		AAGCAGCACCGGTGAGTCTGC	0.627												
FSCN1	6624	broad.mit.edu	37	7	5632671	5632671	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:5632671C>T	uc003sou.2	+	1	218	c.104C>T	c.(103-105)GCG>GTG	p.A35V		NM_003088	NP_003079	Q16658	FSCN1_HUMAN	fascin 1	35					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			ovary(1)	1		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		AAGGTGAACGCGTCCGCCAGC	0.677												
THSD7A	221981	broad.mit.edu	37	7	11514158	11514158	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:11514158T>G	uc003ssf.3	-	8	2307	c.2055A>C	c.(2053-2055)GAA>GAC	p.E685D		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	685	TSP type-1 6.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AGCTTCGTACTTCTTGCAAAG	0.468										HNSCC(18;0.044)		
AHR	196	broad.mit.edu	37	7	17374530	17374530	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:17374530T>C	uc011jxz.1	+	8	1541	c.928T>C	c.(928-930)TAT>CAT	p.Y310H	AHR_uc003stt.3_RNA	NM_001621	NP_001612	P35869	AHR_HUMAN	aryl hydrocarbon receptor precursor	310	PAS 2.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			urinary_tract(1)|kidney(1)|pancreas(1)	3	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TGTTTTAGGATATACTGAAGC	0.328												
TWISTNB	221830	broad.mit.edu	37	7	19739896	19739896	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:19739896A>G	uc003sup.1	-	3	425	c.404T>C	c.(403-405)GTT>GCT	p.V135A		NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN	TWIST neighbor	135						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			ovary(1)	1						CACTTTATTAACTATACCCTG	0.403												
MACC1	346389	broad.mit.edu	37	7	20198704	20198704	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:20198704A>G	uc003sus.3	-	5	1589	c.1280T>C	c.(1279-1281)CTT>CCT	p.L427P	MACC1_uc010kug.2_Missense_Mutation_p.L427P	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	427					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)|skin(1)	3						TGGCTTGTCAAGTAAAAATGA	0.348												
DNAH11	8701	broad.mit.edu	37	7	21818688	21818688	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:21818688G>A	uc003svc.2	+	58	9501	c.9470G>A	c.(9469-9471)CGG>CAG	p.R3157Q		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3157	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						AAAGTGAGCCGGGAAAAGACC	0.478									Kartagener_syndrome			
HIBADH	11112	broad.mit.edu	37	7	27672063	27672063	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:27672063A>G	uc003szf.2	-	3	449	c.254T>C	c.(253-255)GTA>GCA	p.V85A	HIBADH_uc003szg.2_Missense_Mutation_p.V36A|HIBADH_uc003szh.2_5'UTR|HIBADH_uc003szi.2_Missense_Mutation_p.V36A	NM_152740	NP_689953	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase precursor	85					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			ovary(2)	2			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	GGAAGATACTACCTTTAAAAA	0.373												
CHN2	1124	broad.mit.edu	37	7	29552299	29552299	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:29552299A>G	uc003szz.2	+	13	1792	c.1355A>G	c.(1354-1356)TAC>TGC	p.Y452C	CHN2_uc011jzs.1_Missense_Mutation_p.Y527C|CHN2_uc010kva.2_3'UTR|CHN2_uc010kvb.2_RNA|CHN2_uc010kvc.2_Missense_Mutation_p.Y417C|CHN2_uc011jzt.1_Missense_Mutation_p.Y465C|CHN2_uc010kvd.2_Missense_Mutation_p.Y308C|CHN2_uc011jzu.1_Missense_Mutation_p.Y437C|CHN2_uc010kvg.2_Missense_Mutation_p.Y270C|CHN2_uc010kvh.2_Missense_Mutation_p.Y212C|CHN2_uc010kvi.2_Missense_Mutation_p.Y244C|CHN2_uc010kve.2_3'UTR|CHN2_uc003taa.2_Missense_Mutation_p.Y316C|CHN2_uc010kvf.2_Missense_Mutation_p.Y258C|CHN2_uc010kvj.2_Missense_Mutation_p.Y225C|CHN2_uc010kvk.2_Missense_Mutation_p.Y127C|CHN2_uc010kvl.2_RNA|CHN2_uc010kvm.2_Missense_Mutation_p.Y271C|CHN2_uc011jzv.1_Missense_Mutation_p.Y245C	NM_004067	NP_004058	P52757	CHIO_HUMAN	beta chimerin isoform 2	452	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)	2						GATATGCGGTACCAAAAGCTG	0.473												
GARS	2617	broad.mit.edu	37	7	30671954	30671954	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:30671954C>T	uc003tbm.2	+	16	2352	c.1995C>T	c.(1993-1995)GGC>GGT	p.G665G		NM_002047	NP_002038	P41250	SYG_HUMAN	glycyl-tRNA synthetase	665					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			ovary(1)	1					Glycine(DB00145)	ATGAGATTGGCGTGGCTTTTG	0.527												
BBS9	27241	broad.mit.edu	37	7	33545142	33545142	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:33545142A>C	uc003tdn.1	+	20	2696	c.2183A>C	c.(2182-2184)AAG>ACG	p.K728T	BBS9_uc003tdo.1_Missense_Mutation_p.K693T|BBS9_uc003tdp.1_Missense_Mutation_p.K723T|BBS9_uc003tdq.1_Missense_Mutation_p.K688T|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.K252T|BBS9_uc003tds.1_Missense_Mutation_p.K151T|BBS9_uc003tdt.2_RNA	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	728					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			ACCAGGCTGAAGAGTGCCACC	0.483									Bardet-Biedl_syndrome			
TBX20	57057	broad.mit.edu	37	7	35289643	35289643	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:35289643A>G	uc011kas.1	-	2	311	c.300T>C	c.(298-300)ATT>ATC	p.I100I		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	T-box transcription factor TBX20	100						nucleus	DNA binding			central_nervous_system(1)	1						GGCTGCAGGCAATTTTGGCCA	0.582												
EEPD1	80820	broad.mit.edu	37	7	36194770	36194770	+	Silent	SNP	C	C	T	rs143445715		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:36194770C>T	uc003tfa.2	+	2	1477	c.837C>T	c.(835-837)CCC>CCT	p.P279P		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	279					DNA repair		DNA binding				0						CCAACAACCCCGGGGTGCGAG	0.607												
TARP	445347	broad.mit.edu	37	7	38305159	38305159	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:38305159A>T	uc003tge.1	-	5	925	c.548T>A	c.(547-549)GTT>GAT	p.V183D	uc003tfz.1_Intron|TARP_uc003tgb.2_5'UTR|TARP_uc003tgc.1_5'UTR|TARP_uc003tgd.1_5'UTR|TARP_uc010kxi.1_RNA|TARP_uc003tgf.1_RNA|TARP_uc003tgj.1_RNA|TARP_uc003tgh.1_RNA|TARP_uc003tgi.1_RNA|TARP_uc003tgg.1_RNA			A2JGV3	A2JGV3_HUMAN	Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds.	Error:Variant_position_missing_in_A2JGV3_after_alignment											0						TATCTTAATAACATCAGGGAA	0.418												
AMPH	273	broad.mit.edu	37	7	38505777	38505777	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:38505777G>A	uc003tgu.2	-	8	731	c.662C>T	c.(661-663)GCG>GTG	p.A221V	AMPH_uc003tgv.2_Missense_Mutation_p.A221V|AMPH_uc003tgt.2_5'Flank	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	221	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						ACTCACCACCGCAATTTCCTT	0.353												
C7orf10	79783	broad.mit.edu	37	7	40900046	40900046	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:40900046G>A	uc003thn.1	+	14	1330	c.1285G>A	c.(1285-1287)GCT>ACT	p.A429T	C7orf10_uc003thm.1_Missense_Mutation_p.A425T|C7orf10_uc003tho.1_Missense_Mutation_p.A381T|C7orf10_uc003thp.1_RNA	NM_024728	NP_079004	Q9HAC7	CG010_HUMAN	dermal papilla derived protein 13	436							transferase activity			ovary(2)	2						GCTGCTCAGCGCTGGAGTGGT	0.572												
GLI3	2737	broad.mit.edu	37	7	42005569	42005569	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:42005569C>T	uc011kbh.1	-	15	3193	c.3102G>A	c.(3100-3102)GCG>GCA	p.A1034A	GLI3_uc011kbg.1_Silent_p.A975A	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1034					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						ACGTGGCCATCGCCGGGGGGT	0.701									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
GLI3	2737	broad.mit.edu	37	7	42007444	42007444	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:42007444C>T	uc011kbh.1	-	14	2272	c.2181G>A	c.(2179-2181)GGG>GGA	p.G727G	GLI3_uc011kbg.1_Silent_p.G668G	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	727			G -> R (in PAPA1 and PAPB).		negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GAAGCTCGAGCCCACTGTTGG	0.537									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
PGAM2	5224	broad.mit.edu	37	7	44105024	44105024	+	Silent	SNP	G	G	A	rs147733064		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:44105024G>A	uc003tjs.2	-	1	140	c.105C>T	c.(103-105)ACC>ACT	p.T35T		NM_000290	NP_000281	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2	35					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity				0						TGGCCTCCTCGGTCCCCTTTT	0.607												
NPC1L1	29881	broad.mit.edu	37	7	44553055	44553055	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:44553055C>T	uc003tlb.2	-	20	4127	c.4071G>A	c.(4069-4071)CGG>CGA	p.R1357R	NPC1L1_uc003tlc.2_Silent_p.R1330R|NPC1L1_uc011kbw.1_Silent_p.R1284R|NPC1L1_uc003tla.2_3'UTR	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	1357	Cytoplasmic (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	ATCAGAACTGCCGCCCATTGT	0.537												
OGDH	4967	broad.mit.edu	37	7	44664027	44664027	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:44664027G>A	uc003tln.2	+	2	194	c.85G>A	c.(85-87)GCA>ACA	p.A29T	OGDH_uc003tlm.2_Missense_Mutation_p.A29T|OGDH_uc011kbx.1_Missense_Mutation_p.A29T|OGDH_uc011kby.1_Missense_Mutation_p.A29T|OGDH_uc003tlp.2_Missense_Mutation_p.A29T|OGDH_uc011kbz.1_5'UTR	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	29					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	AAACAGACCAGCAGCAGCTAG	0.448												
RAMP3	10268	broad.mit.edu	37	7	45216981	45216981	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:45216981C>T	uc003tnb.2	+	2	193	c.132C>T	c.(130-132)TTC>TTT	p.F44F	RAMP3_uc003tnc.2_Silent_p.F12F	NM_005856	NP_005847	O60896	RAMP3_HUMAN	receptor activity modifying protein 3 precursor	44	Extracellular (Potential).				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity				0					Pramlintide(DB01278)	GGAAGGCTTTCGCAGACATGA	0.592												
ADCY1	107	broad.mit.edu	37	7	45701761	45701761	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:45701761T>C	uc003tne.3	+	8	1571	c.1553T>C	c.(1552-1554)TTC>TCC	p.F518S	ADCY1_uc003tnd.2_Missense_Mutation_p.F293S	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	518	Interaction with calmodulin (By similarity).|Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CGGAAAATGTTCAAGGCCGAG	0.537												
ABCA13	154664	broad.mit.edu	37	7	48682920	48682920	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:48682920T>C	uc003toq.2	+	60	14899	c.14874T>C	c.(14872-14874)TGT>TGC	p.C4958C	ABCA13_uc010kys.1_Silent_p.C2033C|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Silent_p.C688C	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4958					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						TTTGGCTCTGTAAGGAAGCAA	0.318												
COBL	23242	broad.mit.edu	37	7	51096403	51096403	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:51096403G>A	uc003tpr.3	-	10	2575	c.2390C>T	c.(2389-2391)CCC>CTC	p.P797L	COBL_uc003tps.2_Missense_Mutation_p.P854L|COBL_uc011kcl.1_Missense_Mutation_p.P797L|COBL_uc003tpp.3_Missense_Mutation_p.P583L|COBL_uc003tpq.3_Missense_Mutation_p.P738L|COBL_uc003tpo.3_Missense_Mutation_p.P339L	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	797										skin(3)|ovary(2)	5	Glioma(55;0.08)					CGTCTGCGTGGGCACAGGGGT	0.612												
ZNF138	7697	broad.mit.edu	37	7	64275419	64275419	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:64275419T>C	uc011kdp.1	+	2	303	c.127T>C	c.(127-129)TTG>CTG	p.L43L	ZNF138_uc003ttg.2_5'UTR|ZNF138_uc011kdq.1_Silent_p.L43L|ZNF138_uc003tth.2_Intron|ZNF138_uc010kzs.2_Silent_p.L37L	NM_001160183	NP_001153655	B4DFX2	B4DFX2_HUMAN	zinc finger protein 138 isoform 2	43					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding				0		Lung NSC(55;0.0795)|all_lung(88;0.18)				CCTGGTTTTCTTGGGTGAGAA	0.383												
AUTS2	26053	broad.mit.edu	37	7	69064858	69064858	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:69064858G>A	uc003tvw.3	+	1	962	c.219G>A	c.(217-219)CCG>CCA	p.P73P	AUTS2_uc003tvv.3_Silent_p.P73P|AUTS2_uc003tvx.3_Silent_p.P73P	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	73										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCAGACCCCCGCGGAGGAAGC	0.562												
AUTS2	26053	broad.mit.edu	37	7	70254984	70254984	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:70254984G>A	uc003tvw.3	+	19	3525	c.2782G>A	c.(2782-2784)GCC>ACC	p.A928T	AUTS2_uc003tvx.3_Missense_Mutation_p.A904T|AUTS2_uc011keg.1_Missense_Mutation_p.A380T	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	928										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CGAGGGGCGCGCCGCGGGCGA	0.716												
NSUN5	55695	broad.mit.edu	37	7	72722714	72722714	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:72722714A>G	uc003txw.2	-	1	110	c.74T>C	c.(73-75)GTG>GCG	p.V25A	FKBP6_uc003twz.2_Intron|NSUN5_uc003txv.2_Missense_Mutation_p.V25A|NSUN5_uc003txx.2_Missense_Mutation_p.V25A|NSUN5_uc011kev.1_Missense_Mutation_p.V25A	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	NOL1/NOP2/Sun domain family, member 5 isoform 2	25							methyltransferase activity				0		Lung NSC(55;0.163)				GCTGGAGTACACCAACCCCTT	0.677												
WBSCR22	114049	broad.mit.edu	37	7	73107983	73107983	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:73107983C>T	uc003tyt.2	+	9	684	c.626C>T	c.(625-627)TCG>TTG	p.S209L	WBSCR22_uc010lbi.1_RNA|WBSCR22_uc003tyu.2_Missense_Mutation_p.S209L|WBSCR22_uc003tyv.2_Missense_Mutation_p.S171L|WBSCR22_uc003tyw.1_Missense_Mutation_p.S72L	NM_017528	NP_059998	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	209						nucleus	methyltransferase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)				TCTGGGCCTTCGACCTTTATA	0.562												
LIMK1	3984	broad.mit.edu	37	7	73535232	73535232	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:73535232G>A	uc003uaa.1	+	15	1799	c.1634G>A	c.(1633-1635)CGG>CAG	p.R545Q	RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Missense_Mutation_p.R511Q	NM_002314	NP_002305	P53667	LIMK1_HUMAN	LIM domain kinase 1	545	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			stomach(2)|ovary(1)	3		Lung NSC(55;0.137)				ATCATCGGGCGGGTGAACGCA	0.647												
GTF2IRD1	9569	broad.mit.edu	37	7	73954296	73954296	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:73954296C>T	uc003uaq.2	+	14	2009	c.1616C>T	c.(1615-1617)ACA>ATA	p.T539I	GTF2IRD1_uc010lbq.2_Missense_Mutation_p.T571I|GTF2IRD1_uc003uap.2_Missense_Mutation_p.T539I|GTF2IRD1_uc003uar.1_Missense_Mutation_p.T539I	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	539						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4						GAGATGCTGACAGGTAAGAAA	0.572												
HIP1	3092	broad.mit.edu	37	7	75186991	75186991	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:75186991C>T	uc003uds.1	-	16	1589	c.1548G>A	c.(1546-1548)TCG>TCA	p.S516S	HIP1_uc011kfz.1_Silent_p.S393S	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	516	Potential.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						TGCGCTCCAACGAATCCTCCA	0.557			T	PDGFRB	CMML							
POR	5447	broad.mit.edu	37	7	75608819	75608819	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:75608819G>A	uc003udy.2	+	4	370	c.288G>A	c.(286-288)GAG>GAA	p.E96E	POR_uc011kgb.1_RNA|POR_uc011kgc.1_5'Flank|POR_uc011kgd.1_5'Flank|POR_uc011kge.1_5'Flank	NM_000941	NP_000932	P16435	NCPR_HUMAN	cytochrome P450 reductase	93	Flavodoxin-like.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)	1					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	CTGCAGAGGAGTTTGCCAACC	0.627												
SRCRB4D	136853	broad.mit.edu	37	7	76019658	76019658	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:76019658G>A	uc003ufb.2	-	11	1794	c.1446C>T	c.(1444-1446)TGC>TGT	p.C482C	SRCRB4D_uc003ufa.2_5'UTR	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain	482	SRCR 4.					extracellular region|membrane	scavenger receptor activity			pancreas(1)	1						CACGTCCCTCGCATCGGTGGG	0.647												
MAGI2	9863	broad.mit.edu	37	7	77885613	77885613	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:77885613G>A	uc003ugx.2	-	10	1948	c.1694C>T	c.(1693-1695)CCG>CTG	p.P565L	MAGI2_uc003ugy.2_Missense_Mutation_p.P565L|MAGI2_uc010ldx.1_Missense_Mutation_p.P174L|MAGI2_uc010ldy.1_Missense_Mutation_p.P174L|MAGI2_uc011kgr.1_Missense_Mutation_p.P397L|MAGI2_uc011kgs.1_Missense_Mutation_p.P402L	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	565						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGAATGAGGCGGCCGATCTGT	0.507												
CD36	948	broad.mit.edu	37	7	80276128	80276128	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:80276128T>C	uc003uhc.2	+	6	756	c.72T>C	c.(70-72)GGT>GGC	p.G24G	CD36_uc003uhd.3_Silent_p.G24G|CD36_uc011kgv.1_Intron|CD36_uc003uhe.3_Silent_p.G24G|CD36_uc003uhf.3_Silent_p.G24G|CD36_uc003uhg.3_Silent_p.G24G|CD36_uc003uhh.3_Silent_p.G24G	NM_001127444	NP_001120916	P16671	CD36_HUMAN	CD36 antigen	24	Helical; (Potential).				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			ovary(1)	1						TGTTTGGAGGTATTCTAATGC	0.438												
HGF	3082	broad.mit.edu	37	7	81340814	81340814	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:81340814G>A	uc003uhl.2	-	12	1592	c.1427C>T	c.(1426-1428)ACA>ATA	p.T476I	HGF_uc003uhm.2_Missense_Mutation_p.T471I	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	476					epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						ATTGACTATTGTAGGTGTGGT	0.259												
HGF	3082	broad.mit.edu	37	7	81372669	81372669	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:81372669C>T	uc003uhl.2	-	7	1030	c.865G>A	c.(865-867)GCT>ACT	p.A289T	HGF_uc003uhm.2_Missense_Mutation_p.A284T|HGF_uc003uhn.1_Missense_Mutation_p.E289K|HGF_uc003uho.1_Missense_Mutation_p.E284K	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	289					epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						CTTCACTTACCGCATGTTTTA	0.448												
PCLO	27445	broad.mit.edu	37	7	82581873	82581873	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:82581873G>A	uc003uhx.2	-	5	8685	c.8396C>T	c.(8395-8397)ACA>ATA	p.T2799I	PCLO_uc003uhv.2_Missense_Mutation_p.T2799I|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2730					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AGCTGTGCATGTGACAAAGGT	0.433												
PCLO	27445	broad.mit.edu	37	7	82763950	82763950	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:82763950C>T	uc003uhx.2	-	3	3205	c.2916G>A	c.(2914-2916)CAG>CAA	p.Q972Q	PCLO_uc003uhv.2_Silent_p.Q972Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	918	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AAGTAGGTGGCTGTGAAGGGG	0.522												
PCLO	27445	broad.mit.edu	37	7	82764620	82764620	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:82764620A>C	uc003uhx.2	-	3	2535	c.2246T>G	c.(2245-2247)GTT>GGT	p.V749G	PCLO_uc003uhv.2_Missense_Mutation_p.V749G	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	695	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						ATCATCAGCAACAGGGGCCTT	0.507												
GRM3	2913	broad.mit.edu	37	7	86468223	86468223	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:86468223C>T	uc003uid.2	+	4	2492	c.1393C>T	c.(1393-1395)CGA>TGA	p.R465*	GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Nonsense_Mutation_p.R337*|GRM3_uc010leh.2_Nonsense_Mutation_p.R57*	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	465	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGGAATGGGGCGATACAACGT	0.383												
ZNF804B	219578	broad.mit.edu	37	7	88847534	88847534	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:88847534A>C	uc011khi.1	+	2	712	c.174A>C	c.(172-174)GAA>GAC	p.E58D		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	58	C2H2-type.					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)			TTTACTGTGAATTATGTGACA	0.363										HNSCC(36;0.09)		
ZNF804B	219578	broad.mit.edu	37	7	88956722	88956722	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:88956722A>C	uc011khi.1	+	3	852	c.314A>C	c.(313-315)GAG>GCG	p.E105A		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	105						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)			TGGAAAGATGAGAAAAAACAA	0.358										HNSCC(36;0.09)		
AKAP9	10142	broad.mit.edu	37	7	91724394	91724394	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:91724394T>C	uc003ulg.2	+	40	9861	c.9636T>C	c.(9634-9636)AGT>AGC	p.S3212S	AKAP9_uc003ulf.2_Silent_p.S3204S|AKAP9_uc003uli.2_Silent_p.S2835S|AKAP9_uc003ulj.2_Silent_p.S982S|AKAP9_uc003ull.2_Silent_p.S108S	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	3216	Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CATTAGCAAGTGAACAGAAAA	0.388			T	BRAF	papillary thyroid							
SAMD9L	219285	broad.mit.edu	37	7	92763746	92763746	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:92763746T>G	uc003umh.1	-	5	2755	c.1539A>C	c.(1537-1539)GAA>GAC	p.E513D	SAMD9L_uc003umj.1_Missense_Mutation_p.E513D|SAMD9L_uc003umi.1_Missense_Mutation_p.E513D|SAMD9L_uc010lfb.1_Missense_Mutation_p.E513D|SAMD9L_uc003umk.1_Missense_Mutation_p.E513D|SAMD9L_uc010lfc.1_Missense_Mutation_p.E513D|SAMD9L_uc010lfd.1_Missense_Mutation_p.E513D|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	513										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATAAATGTGGTTCTAGAGGTT	0.378												
CALCR	799	broad.mit.edu	37	7	93055810	93055810	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:93055810G>A	uc003umv.1	-	15	1646	c.1385C>T	c.(1384-1386)GCT>GTT	p.A462V	CALCR_uc011kia.1_Missense_Mutation_p.A242V|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.A428V|CALCR_uc003umw.2_Missense_Mutation_p.A428V	NM_001742	NP_001733	P30988	CALCR_HUMAN	calcitonin receptor isoform 2 precursor	444	Poly-Ala.|Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	p.I462I(1)		ovary(3)|lung(3)|skin(2)|pancreas(1)	9	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	AGCGGCTGCAGCGCGAGCAGA	0.597												
PON3	5446	broad.mit.edu	37	7	94991695	94991695	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:94991695A>G	uc003unt.2	-	8	910	c.885T>C	c.(883-885)CCT>CCC	p.P295P	PON1_uc011kih.1_Intron	NM_000940	NP_000931	Q15166	PON3_HUMAN	paraoxonase 3	295					aromatic compound catabolic process|carboxylic acid catabolic process|response to external stimulus	extracellular space	aryldialkylphosphatase activity|arylesterase activity|metal ion binding|protein homodimerization activity			ovary(1)	1	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			GAGGGTCCTCAGGGTTATAGT	0.468												
SMURF1	57154	broad.mit.edu	37	7	98649829	98649829	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:98649829G>A	uc003upu.1	-	7	1040	c.720C>T	c.(718-720)TAC>TAT	p.Y240Y	SMURF1_uc003upv.1_Silent_p.Y240Y|SMURF1_uc003upt.2_Silent_p.Y240Y	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	240	WW 1.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|lung(1)	4	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TTCTCTCACCGTAGCCTTCGG	0.463												
CYP3A4	1576	broad.mit.edu	37	7	99361615	99361615	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:99361615C>T	uc003urv.1	-	10	993	c.889G>A	c.(889-891)GCC>ACC	p.A297T	CYP3A4_uc003urw.1_Missense_Mutation_p.A296T|CYP3A4_uc011kiz.1_Missense_Mutation_p.A256T|CYP3A4_uc011kja.1_Missense_Mutation_p.A248T|CYP3A4_uc011kjb.1_Missense_Mutation_p.A147T	NM_017460	NP_059488	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A,	297					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			central_nervous_system(3)|ovary(1)	4	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	ATTGATTGGGCCACGAGCTCC	0.428												
ZKSCAN1	7586	broad.mit.edu	37	7	99621904	99621904	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:99621904G>A	uc003usk.1	+	3	773	c.554G>A	c.(553-555)CGG>CAG	p.R185Q	ZKSCAN1_uc003usj.2_Missense_Mutation_p.R184Q|ZKSCAN1_uc003usl.1_Missense_Mutation_p.R149Q|ZKSCAN1_uc003usm.1_Intron	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	zinc finger protein 36	185					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CATTCGTCTCGGAAACCCCGC	0.532												
TAF6	6878	broad.mit.edu	37	7	99710462	99710462	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:99710462A>G	uc003uti.2	-	6	614	c.533T>C	c.(532-534)CTG>CCG	p.L178P	TAF6_uc003utg.2_Missense_Mutation_p.L100P|TAF6_uc003uth.2_Missense_Mutation_p.L235P|TAF6_uc003utk.2_Missense_Mutation_p.L178P|TAF6_uc011kji.1_Missense_Mutation_p.L215P|TAF6_uc003utj.2_Missense_Mutation_p.L168P|TAF6_uc003utl.2_Missense_Mutation_p.L178P|TAF6_uc003utm.2_Missense_Mutation_p.L178P|TAF6_uc003utn.1_RNA	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	178					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTTGCCCTTCAGGGGTCCGTC	0.597												
GIGYF1	64599	broad.mit.edu	37	7	100279802	100279802	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:100279802A>G	uc003uwg.1	-	22	3827	c.2818T>C	c.(2818-2820)TAT>CAT	p.Y940H		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	940										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GAACGGATATAATCGTGGACA	0.547												
ZAN	7455	broad.mit.edu	37	7	100350272	100350272	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:100350272A>G	uc003uwj.2	+	14	2709	c.2544A>G	c.(2542-2544)GAA>GAG	p.E848E	ZAN_uc003uwk.2_Silent_p.E848E|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	848	66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCCCCATGGAAAAACCCACCA	0.502												
ZAN	7455	broad.mit.edu	37	7	100366269	100366269	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:100366269G>A	uc003uwj.2	+	27	5243	c.5078G>A	c.(5077-5079)CGC>CAC	p.R1693H	ZAN_uc003uwk.2_Missense_Mutation_p.R1693H|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Missense_Mutation_p.R270H	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1693	Extracellular (Potential).|VWFD 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GACAACCTGCGCCCCGACAGA	0.607												
ACHE	43	broad.mit.edu	37	7	100491627	100491627	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:100491627C>T	uc003uxd.2	-	1	383	c.227G>A	c.(226-228)CGT>CAT	p.R76H	ACHE_uc003uxe.2_Missense_Mutation_p.R76H|ACHE_uc003uxf.2_Missense_Mutation_p.R76H|ACHE_uc003uxg.2_Missense_Mutation_p.R76H|ACHE_uc003uxh.2_Missense_Mutation_p.R76H|ACHE_uc003uxi.2_Missense_Mutation_p.R76H|ACHE_uc003uxj.1_Missense_Mutation_p.R195H	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	76					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CAGAAAGCGACGGGGTCCCAT	0.642												
MOGAT3	346606	broad.mit.edu	37	7	100841524	100841524	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:100841524A>T	uc003uyc.2	-	5	783	c.616T>A	c.(616-618)TGC>AGC	p.C206S	MOGAT3_uc010lhr.2_Missense_Mutation_p.C206S	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	206					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			ovary(2)	2	Lung NSC(181;0.168)|all_lung(186;0.215)					AGCGTAAGGCAGTGCTCCCCG	0.652												
CUX1	1523	broad.mit.edu	37	7	101844765	101844765	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:101844765C>T	uc003uyx.3	+	18	2226	c.2188C>T	c.(2188-2190)CAG>TAG	p.Q730*	CUX1_uc003uys.3_Nonsense_Mutation_p.Q741*|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	730					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						TGCCTTAAAGCAGGCACCACT	0.642												
DNAJC2	27000	broad.mit.edu	37	7	102967090	102967090	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:102967090T>A	uc003vbo.2	-	5	723	c.472A>T	c.(472-474)AAC>TAC	p.N158Y	PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.2_5'UTR|DNAJC2_uc010lix.2_Missense_Mutation_p.N158Y|DNAJC2_uc003vbp.2_5'UTR|DNAJC2_uc003vbq.1_RNA	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	158	J.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			kidney(1)	1						TCTACACTGTTAAATGCTCGT	0.343												
DUS4L	11062	broad.mit.edu	37	7	107216881	107216881	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:107216881A>G	uc003veh.2	+	7	883	c.550A>G	c.(550-552)ACA>GCA	p.T184A	DUS4L_uc003veg.2_Missense_Mutation_p.T63A|DUS4L_uc011klw.1_RNA|DUS4L_uc011klx.1_Missense_Mutation_p.T63A|DUS4L_uc010ljl.2_Missense_Mutation_p.T94A	NM_181581	NP_853559	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like	184					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity				0						TTCATGGATTACAGTCCATGG	0.348												
BCAP29	55973	broad.mit.edu	37	7	107234461	107234461	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:107234461C>T	uc003vej.2	+	4	594	c.255C>T	c.(253-255)AGC>AGT	p.S85S	BCAP29_uc011kly.1_5'UTR|BCAP29_uc011klz.1_Silent_p.S85S|BCAP29_uc011kma.1_Silent_p.S85S	NM_018844	NP_061332	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein BAP29 isoform	85	Lumenal (Potential).				apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				large_intestine(1)|ovary(1)	2						GCTCCACCAGCAGACCTGATG	0.353												
DNAJB9	4189	broad.mit.edu	37	7	108212352	108212352	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:108212352C>A	uc003vfn.2	+	2	384	c.182C>A	c.(181-183)CCG>CAG	p.P61Q	THAP5_uc003vfl.2_5'Flank|THAP5_uc003vfm.2_5'Flank	NM_012328	NP_036460	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	61	J.				ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding				0						AATAAGAGCCCGGATGCTGAA	0.408												
LRRN3	54674	broad.mit.edu	37	7	110763303	110763303	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:110763303G>A	uc003vft.3	+	4	1521	c.475G>A	c.(475-477)GCC>ACC	p.A159T	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.A159T|LRRN3_uc003vfs.3_Missense_Mutation_p.A159T	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	159	LRR 4.|Extracellular (Potential).					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TTCACCTGGAGCCTTTATTGG	0.363												
TMEM168	64418	broad.mit.edu	37	7	112423777	112423777	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:112423777C>T	uc003vgn.2	-	2	1496	c.1104G>A	c.(1102-1104)GCG>GCA	p.A368A	TMEM168_uc010lju.2_Silent_p.A368A|TMEM168_uc011kmr.1_Intron	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	transmembrane protein 168	368	Helical; (Potential).					integral to membrane|transport vesicle				ovary(1)|central_nervous_system(1)	2						CTCCCAAAATCGCTGTTGCAA	0.393												
PPP1R3A	5506	broad.mit.edu	37	7	113519686	113519686	+	Missense_Mutation	SNP	T	T	G	rs139605314		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:113519686T>G	uc010ljy.1	-	4	1492	c.1461A>C	c.(1459-1461)AGA>AGC	p.R487S		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	487					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						AATGGAAATCTCTTCGTAAAC	0.363												
KCND2	3751	broad.mit.edu	37	7	119915142	119915142	+	Silent	SNP	G	G	A	rs116322872	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:119915142G>A	uc003vjj.1	+	1	1421	c.456G>A	c.(454-456)GCG>GCA	p.A152A		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	152	Cytoplasmic (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					AGGACGACGCGGATACCGACA	0.632												
WNT16	51384	broad.mit.edu	37	7	120979236	120979236	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:120979236G>A	uc003vjw.2	+	4	1192	c.935G>A	c.(934-936)CGT>CAT	p.R312H	WNT16_uc003vjv.2_Missense_Mutation_p.R302H|WNT16_uc010lkl.2_Missense_Mutation_p.R96H	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family,	312					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			lung(2)|ovary(2)|large_intestine(1)	5	all_neural(327;0.117)					GAATGCAACCGTACATCAGAG	0.493												
FEZF1	389549	broad.mit.edu	37	7	121942278	121942278	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:121942278T>C	uc003vkd.2	-	4	1275	c.1201A>G	c.(1201-1203)ACC>GCC	p.T401A	FEZF1_uc003vkc.2_Missense_Mutation_p.T351A|uc010lko.1_5'Flank	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1 isoform 1	401	C2H2-type 6.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)	3						GTGGGGCAGGTGAAAGGCTTC	0.572												
GPR37	2861	broad.mit.edu	37	7	124404743	124404743	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:124404743C>T	uc003vli.2	-	1	939	c.288G>A	c.(286-288)CCG>CCA	p.P96P		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	96	Extracellular (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3						TGCCTGCAGCCGGGTCACGGC	0.736												
LRRC4	64101	broad.mit.edu	37	7	127669622	127669622	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:127669622C>T	uc003vmk.2	-	2	1209	c.1072G>A	c.(1072-1074)GCA>ACA	p.A358T	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	358	Extracellular (Potential).|Ig-like.					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		TCTCGAGGTGCGTCCATGATG	0.597												
SND1	27044	broad.mit.edu	37	7	127729706	127729706	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:127729706A>G	uc003vmi.2	+	22	2810	c.2584A>G	c.(2584-2586)ATG>GTG	p.M862V	SND1_uc010lle.2_Missense_Mutation_p.M515V	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	862					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						AGGGCTGGTCATGGTGGAGGT	0.592												
TNPO3	23534	broad.mit.edu	37	7	128597313	128597313	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:128597313C>T	uc003vol.1	-	22	3142	c.2768G>A	c.(2767-2769)CGA>CAA	p.R923Q	TNPO3_uc010llx.1_Intron|TNPO3_uc003vom.1_Missense_Mutation_p.R857Q|TNPO3_uc010lly.1_Missense_Mutation_p.R957Q|TNPO3_uc010llz.1_Missense_Mutation_p.R859Q	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	transportin 3	923					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	p.R923*(1)		ovary(2)|skin(2)|lung(1)	5						TGTGAGCTATCGAAACAACCT	0.512												
PLXNA4	91584	broad.mit.edu	37	7	131859616	131859616	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:131859616G>A	uc003vra.3	-	21	4167	c.3938C>T	c.(3937-3939)CCG>CTG	p.P1313L		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1313	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						GTCCAGGAACGGAATCCCGGC	0.577												
PLXNA4	91584	broad.mit.edu	37	7	131895837	131895837	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:131895837C>T	uc003vra.3	-	10	2392	c.2163G>A	c.(2161-2163)ACG>ACA	p.T721T		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	721	Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						TGGCCTTCAGCGTGATAGGCT	0.652												
EXOC4	60412	broad.mit.edu	37	7	133580444	133580444	+	Silent	SNP	C	C	T	rs34995232		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:133580444C>T	uc003vrk.2	+	12	1862	c.1827C>T	c.(1825-1827)TGC>TGT	p.C609C	EXOC4_uc011kpo.1_Silent_p.C508C|EXOC4_uc003vrl.2_Silent_p.C219C|EXOC4_uc011kpp.1_Silent_p.C141C	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	609					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)				ACATGGTGTGCGTGAAGCTCC	0.473												
AKR1B1	231	broad.mit.edu	37	7	134132069	134132069	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:134132069C>T	uc003vrp.1	-	8	880	c.806G>A	c.(805-807)CGC>CAC	p.R269H	AKR1B1_uc003vrq.1_RNA	NM_001628	NP_001619	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1	269	NADP.				C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			ovary(3)	3					NADH(DB00157)|Sulindac(DB00605)	CTCAGCAATGCGTTCTGGTGT	0.527												
AKR1B1	231	broad.mit.edu	37	7	134132123	134132123	+	Missense_Mutation	SNP	C	C	T	rs145261078		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:134132123C>T	uc003vrp.1	-	8	826	c.752G>A	c.(751-753)CGG>CAG	p.R251Q	AKR1B1_uc003vrq.1_RNA	NM_001628	NP_001619	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1	251	NADP.				C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			ovary(3)	3					NADH(DB00157)|Sulindac(DB00605)	CATGGGGAACCGGATCAGGAC	0.358												
AKR1B1	231	broad.mit.edu	37	7	134136454	134136454	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:134136454A>G	uc003vrp.1	-	2	192	c.118T>C	c.(118-120)TAC>CAC	p.Y40H	AKR1B1_uc003vrq.1_RNA	NM_001628	NP_001619	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1	40					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			ovary(3)	3					NADH(DB00157)|Sulindac(DB00605)	ATGTGGCGGTACCCGACGTCA	0.592												
KIAA1549	57670	broad.mit.edu	37	7	138546182	138546182	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:138546182G>A	uc011kql.1	-	16	4999	c.4950C>T	c.(4948-4950)GCC>GCT	p.A1650A	KIAA1549_uc011kqi.1_Silent_p.A434A|KIAA1549_uc003vuk.3_Silent_p.A1600A|KIAA1549_uc011kqj.1_Silent_p.A1650A|KIAA1549_uc011kqk.1_Silent_p.A434A	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	1650						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						TCTGCACATCGGCTGGGAGGT	0.542			O	BRAF	pilocytic astrocytoma							
UBN2	254048	broad.mit.edu	37	7	138936727	138936727	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:138936727A>G	uc011kqr.1	+	3	587	c.587A>G	c.(586-588)AAG>AGG	p.K196R		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	196										ovary(1)|skin(1)	2						AAACACCGGAAGGATCGGCTA	0.368												
UBN2	254048	broad.mit.edu	37	7	138944059	138944059	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:138944059G>A	uc011kqr.1	+	5	848	c.848G>A	c.(847-849)CGG>CAG	p.R283Q	UBN2_uc003vuv.2_Missense_Mutation_p.R6Q	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	283	Lys-rich.									ovary(1)|skin(1)	2						AAGCGGAAGCGGAAAGAGGAA	0.383												
DENND2A	27147	broad.mit.edu	37	7	140227168	140227168	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:140227168C>T	uc010lnj.2	-	13	2600	c.2455G>A	c.(2455-2457)GGG>AGG	p.G819R	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.G819R|DENND2A_uc003vvw.2_Missense_Mutation_p.G819R	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	819	DENN.									ovary(3)|breast(1)	4	Melanoma(164;0.00956)					GAGAGCAGCCCGATGAGGAAG	0.672												
ADCK2	90956	broad.mit.edu	37	7	140380868	140380868	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:140380868G>A	uc003vvy.1	+	4	1414	c.1236G>A	c.(1234-1236)CAG>CAA	p.Q412Q	ADCK2_uc003vvz.2_Silent_p.Q412Q	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	412	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity				0	Melanoma(164;0.00956)					CCAGTTACCAGCAGGCAGGAA	0.577												
FAM131B	9715	broad.mit.edu	37	7	143053849	143053849	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:143053849C>T	uc003wct.2	-	6	2499	c.793G>A	c.(793-795)GCA>ACA	p.A265T	FAM131B_uc010loz.2_Missense_Mutation_p.A233T|FAM131B_uc003wcu.3_Missense_Mutation_p.A265T|FAM131B_uc010lpa.2_Missense_Mutation_p.A293T	NM_014690	NP_055505	Q86XD5	F131B_HUMAN	hypothetical protein LOC9715 isoform b	265											0	Melanoma(164;0.205)					AGGTCCACTGCGCCTACCCCC	0.622												
OR2A2	442361	broad.mit.edu	37	7	143807240	143807240	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:143807240G>A	uc011ktz.1	+	1	565	c.565G>A	c.(565-567)GCT>ACT	p.A189T		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A,	189	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Melanoma(164;0.0783)					GCTGGCCTGTGCTGACACCTG	0.507												
ZNF786	136051	broad.mit.edu	37	7	148767606	148767606	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:148767606A>G	uc003wfh.2	-	4	2395	c.2258T>C	c.(2257-2259)GTA>GCA	p.V753A	ZNF786_uc011kuk.1_Missense_Mutation_p.V716A|ZNF786_uc003wfi.2_Missense_Mutation_p.V667A	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	753	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTTTGTGTGTACTCTGATGTG	0.517												
ZNF282	8427	broad.mit.edu	37	7	148909543	148909543	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:148909543T>A	uc003wfm.2	+	6	1151	c.1046T>A	c.(1045-1047)ATT>AAT	p.I349N	ZNF282_uc011kun.1_Missense_Mutation_p.I349N|ZNF282_uc003wfn.2_Missense_Mutation_p.I289N|ZNF282_uc003wfo.2_Intron	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	349					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		GACAGAGATATTCCCACGGAT	0.323												
KRBA1	84626	broad.mit.edu	37	7	149423093	149423093	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:149423093C>T	uc003wfz.2	+	11	1815	c.1416C>T	c.(1414-1416)ACC>ACT	p.T472T	KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Silent_p.T140T	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	KRAB A domain containing 1	472										ovary(1)|central_nervous_system(1)	2	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGCAGCACCGACTGGGACC	0.647												
SSPO	23145	broad.mit.edu	37	7	149474079	149474079	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:149474079G>T	uc010lpk.2	+	3	289	c.289G>T	c.(289-291)GGC>TGC	p.G97C	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	97	EMI.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TTGTTGCCCAGGCTGGGGGGG	0.622												
SLC4A2	6522	broad.mit.edu	37	7	150771788	150771788	+	Silent	SNP	G	G	A	rs17852574		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:150771788G>A	uc003wit.3	+	19	3163	c.2907G>A	c.(2905-2907)TCG>TCA	p.S969S	SLC4A2_uc011kve.1_Silent_p.S960S|SLC4A2_uc003wiu.3_Silent_p.S955S|SLC4A2_uc003wiv.3_Silent_p.S163S	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	969	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGGATTCTCGGTGACTGCCC	0.592												
FASTK	10922	broad.mit.edu	37	7	150774091	150774091	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:150774091C>T	uc003wix.1	-	9	1549	c.1451G>A	c.(1450-1452)CGC>CAC	p.R484H	uc011kvf.1_5'Flank|FASTK_uc003wiw.1_Missense_Mutation_p.R245H|FASTK_uc003wiy.1_Missense_Mutation_p.R343H|FASTK_uc003wiz.1_Missense_Mutation_p.R457H|FASTK_uc003wja.1_3'UTR	NM_006712	NP_006703	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase isoform 1	484	RAP.				apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(2)|stomach(2)	4			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GAAATGCCAGCGTTCCCGCAA	0.701												
GALNT11	63917	broad.mit.edu	37	7	151810452	151810452	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:151810452G>A	uc010lqg.1	+	8	1432	c.1202G>A	c.(1201-1203)CGG>CAG	p.R401Q	GALNT11_uc011kvm.1_Missense_Mutation_p.R320Q|GALNT11_uc003wku.2_Missense_Mutation_p.R401Q|GALNT11_uc003wkw.1_Missense_Mutation_p.R149Q	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	N-acetylgalactosaminyltransferase 11	401	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		AACTCTTTGCGGCTGGCACAT	0.468												
LMBR1	64327	broad.mit.edu	37	7	156520652	156520652	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:156520652T>G	uc003wmw.3	-	12	1180	c.965A>C	c.(964-966)GAT>GCT	p.D322A	LMBR1_uc003wmv.3_Missense_Mutation_p.D170A|LMBR1_uc003wmx.3_Missense_Mutation_p.D170A|LMBR1_uc010lqn.2_Missense_Mutation_p.D363A|LMBR1_uc011kvx.1_Missense_Mutation_p.D301A	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	limb region 1 protein	322	Extracellular (Potential).					integral to membrane	receptor activity				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		TGCTGTTTCATCAACCAATAG	0.363												
PTPRN2	5799	broad.mit.edu	37	7	157985114	157985114	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:157985114G>A	uc003wno.2	-	5	575	c.454C>T	c.(454-456)CGA>TGA	p.R152*	PTPRN2_uc003wnp.2_Nonsense_Mutation_p.R135*|PTPRN2_uc003wnq.2_Nonsense_Mutation_p.R152*|PTPRN2_uc003wnr.2_Nonsense_Mutation_p.R114*|PTPRN2_uc011kwa.1_Nonsense_Mutation_p.R175*	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	152	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGTGGCGTCGGAGGGCGTTG	0.652												
NCAPG2	54892	broad.mit.edu	37	7	158486107	158486107	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:158486107A>G	uc003wnv.1	-	3	306	c.161T>C	c.(160-162)CTG>CCG	p.L54P	NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.L54P|NCAPG2_uc011kwe.1_Missense_Mutation_p.L54P	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	54					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TAAATTCTTCAGCCTTTGCCA	0.408												
ESYT2	57488	broad.mit.edu	37	7	158531742	158531742	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:158531742T>C	uc003wob.1	-	18	2386	c.2320A>G	c.(2320-2322)AAG>GAG	p.K774E	ESYT2_uc003wny.1_RNA|ESYT2_uc003wnz.1_Missense_Mutation_p.K213E|ESYT2_uc003woa.1_Missense_Mutation_p.K351E	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	family with sequence similarity 62 (C2 domain	802	C2 3.					integral to membrane|plasma membrane				central_nervous_system(2)|kidney(1)	3						ACGATAAGCTTGTTTCTCTGC	0.607												
CSMD1	64478	broad.mit.edu	37	8	2808696	2808696	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:2808696T>C	uc011kwk.1	-	66	10534	c.10144A>G	c.(10144-10146)ACA>GCA	p.T3382A	CSMD1_uc011kwj.1_Missense_Mutation_p.T2696A|CSMD1_uc010lrg.2_Missense_Mutation_p.T1273A	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3382	Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTACTGCTTGTTGCATTGAAC	0.468												
CSMD1	64478	broad.mit.edu	37	8	3200878	3200878	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:3200878A>G	uc011kwk.1	-	23	3962	c.3572T>C	c.(3571-3573)CTG>CCG	p.L1191P	CSMD1_uc011kwj.1_Missense_Mutation_p.L583P|CSMD1_uc003wqe.2_Missense_Mutation_p.L347P	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1191	Extracellular (Potential).|CUB 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCTAGCCACAGGTGATTGGA	0.428												
CSMD1	64478	broad.mit.edu	37	8	3216843	3216843	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:3216843A>G	uc011kwk.1	-	21	3528	c.3138T>C	c.(3136-3138)TGT>TGC	p.C1046C	CSMD1_uc011kwj.1_Silent_p.C438C|CSMD1_uc003wqe.2_Silent_p.C202C	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1046	Sushi 6.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGGATCATCACATGGCTCCA	0.433												
MCPH1	79648	broad.mit.edu	37	8	6302587	6302587	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:6302587T>C	uc003wqi.2	+	8	1412	c.1344T>C	c.(1342-1344)TCT>TCC	p.S448S	MCPH1_uc003wqh.2_Silent_p.S448S|MCPH1_uc011kwl.1_Silent_p.S400S	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	448						microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GAAGTCTTTCTAAGAAGGAGA	0.393												
PRSS55	203074	broad.mit.edu	37	8	10383222	10383222	+	Missense_Mutation	SNP	C	C	T	rs148104469		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:10383222C>T	uc003wta.2	+	1	142	c.127C>T	c.(127-129)CCC>TCC	p.P43S	uc010lru.2_Intron	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	hypothetical protein LOC203074 precursor	43	Extracellular (Potential).				proteolysis	integral to membrane	serine-type endopeptidase activity			ovary(1)	1						CCGCCCTCAGCCCCCTCATCC	0.667												
DLC1	10395	broad.mit.edu	37	8	12948849	12948849	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:12948849G>C	uc003wwm.2	-	14	4277	c.3833C>G	c.(3832-3834)GCC>GGC	p.A1278G	DLC1_uc003wwk.1_Missense_Mutation_p.A841G|DLC1_uc003wwl.1_Missense_Mutation_p.A875G|DLC1_uc011kxx.1_Missense_Mutation_p.A767G	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	1278	Rho-GAP.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						CTTGCACTCGGCGATCATATG	0.418												
FGF20	26281	broad.mit.edu	37	8	16850819	16850819	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:16850819A>C	uc003wxc.1	-	3	531	c.398T>G	c.(397-399)CTT>CGT	p.L133R	FGF20_uc010lsv.1_RNA|FGF20_uc010lsw.1_Silent_p.T98T	NM_019851	NP_062825	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	133					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity			lung(1)	1				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TTCGGAAGTAAGTTTCTCCTG	0.323												
MTMR7	9108	broad.mit.edu	37	8	17157580	17157580	+	Missense_Mutation	SNP	G	G	A	rs140365611		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:17157580G>A	uc003wxm.2	-	14	2013	c.1774C>T	c.(1774-1776)CGG>TGG	p.R592W	MTMR7_uc011kya.1_Missense_Mutation_p.R226W|MTMR7_uc011kyb.1_Missense_Mutation_p.R183W	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	592							protein tyrosine phosphatase activity			skin(1)	1				Colorectal(111;0.112)		GAAGGGCTCCGGGATGGAAAT	0.478												
ASAH1	427	broad.mit.edu	37	8	17916887	17916887	+	Missense_Mutation	SNP	G	G	A	rs147233112	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:17916887G>A	uc003wyl.2	-	12	1316	c.1004C>T	c.(1003-1005)ACG>ATG	p.T335M	ASAH1_uc010ltb.1_RNA|ASAH1_uc003wym.2_Missense_Mutation_p.T310M|ASAH1_uc003wyn.2_Missense_Mutation_p.T351M|ASAH1_uc003wyo.2_Missense_Mutation_p.T329M	NM_177924	NP_808592	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase 1 isoform a	335					ceramide metabolic process	lysosome	ceramidase activity				0				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		CTTTGCAGGCGTTCTGCGATC	0.453												
LZTS1	11178	broad.mit.edu	37	8	20112401	20112401	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:20112401A>T	uc003wzr.2	-	1	403	c.292T>A	c.(292-294)TTT>ATT	p.F98I	LZTS1_uc010ltg.1_Missense_Mutation_p.F98I	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	98					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GACGGGTCAAAGTCCACCCCA	0.592												
CHMP7	91782	broad.mit.edu	37	8	23115862	23115862	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:23115862C>A	uc003xdc.2	+	7	1508	c.860C>A	c.(859-861)GCC>GAC	p.A287D	CHMP7_uc011kzs.1_RNA|CHMP7_uc003xdd.2_Missense_Mutation_p.A177D|CHMP7_uc003xde.2_Missense_Mutation_p.A145D	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN	CHMP family, member 7	287	Potential.				cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity				0		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TCTCTCAAGGCCAAGCAACGG	0.572												
NEFM	4741	broad.mit.edu	37	8	24773231	24773231	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:24773231C>T	uc003xed.3	+	2	1227	c.1194C>T	c.(1192-1194)ATC>ATT	p.I398I	NEFM_uc011lac.1_Silent_p.I398I|NEFM_uc010lue.2_Silent_p.I22I	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	398	Rod.|Coil 2B.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATATAGAAATCGCTGCGTACA	0.527												
DOCK5	80005	broad.mit.edu	37	8	25158099	25158099	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:25158099T>C	uc003xeg.2	+	9	909	c.772T>C	c.(772-774)TAT>CAT	p.Y258H	DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Intron|DOCK5_uc003xef.2_Missense_Mutation_p.Y258H	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	258						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAGTGAGAACTATCTAATTCG	0.433												
EBF2	64641	broad.mit.edu	37	8	25902252	25902252	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:25902252C>T	uc003xes.1	-	1	141	c.124G>A	c.(124-126)GCG>ACG	p.A42T	PPP2R2A_uc003xek.2_Intron|EBF2_uc003xet.1_Missense_Mutation_p.A42T	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2	42					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			ovary(3)|skin(1)	4		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TACCTCTGCGCGGCGACATTA	0.602												
EXTL3	2137	broad.mit.edu	37	8	28575417	28575417	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:28575417T>C	uc003xgz.1	+	3	2434	c.1841T>C	c.(1840-1842)TTC>TCC	p.F614S		NM_001440	NP_001431	O43909	EXTL3_HUMAN	exostoses-like 3	614	Lumenal (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			skin(2)	2		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TTCCATCTTTTCCCCCACACT	0.577												
BRF2	55290	broad.mit.edu	37	8	37702451	37702451	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:37702451G>A	uc003xkk.2	-	4	927	c.817C>T	c.(817-819)CTG>TTG	p.L273L		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	RNA polymerase III transcription initiation	273					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding				0		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			ATCCGCAGCAGCACAGCCAGC	0.582												
FGFR1	2260	broad.mit.edu	37	8	38275753	38275753	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:38275753G>A	uc003xlp.2	-	11	2365	c.1423C>T	c.(1423-1425)CGG>TGG	p.R475W	FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Missense_Mutation_p.R473W|FGFR1_uc011lbp.1_Missense_Mutation_p.R386W|FGFR1_uc011lbq.1_Missense_Mutation_p.R384W|FGFR1_uc010lwk.2_Missense_Mutation_p.R465W	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	475	Cytoplasmic (Potential).				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TACCTGTCCCGAGGCAGCTCC	0.532		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome					
GINS4	84296	broad.mit.edu	37	8	41399516	41399516	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:41399516C>T	uc003xnx.2	+	8	792	c.582C>T	c.(580-582)TAC>TAT	p.Y194Y	GINS4_uc003xny.2_Silent_p.Y194Y	NM_032336	NP_115712	Q9BRT9	SLD5_HUMAN	GINS complex subunit 4	194	Important for GINS complex assembly.				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				skin(1)	1	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			TCAGGGACTACGTGATTGACC	0.517												
CHRNA6	8973	broad.mit.edu	37	8	42611479	42611479	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:42611479A>G	uc003xpj.2	-	5	909	c.863T>C	c.(862-864)GTC>GCC	p.V288A	CHRNA6_uc011lcw.1_Missense_Mutation_p.V273A	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6	288	Helical; (Potential).					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TTCTGTGATGACCAGCAAAAA	0.473												
PRKDC	5591	broad.mit.edu	37	8	48846583	48846583	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:48846583G>T	uc003xqi.2	-	15	1622	c.1565C>A	c.(1564-1566)CCC>CAC	p.P522H	PRKDC_uc003xqj.2_Missense_Mutation_p.P522H|PRKDC_uc011ldh.1_Missense_Mutation_p.P522H	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	522					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TTTGTATGTGGGCACCTTCCA	0.468								NHEJ				
EFCAB1	79645	broad.mit.edu	37	8	49647703	49647703	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:49647703C>T	uc003xqo.2	-	1	168	c.8G>A	c.(7-9)CGC>CAC	p.R3H	EFCAB1_uc003xqn.3_RNA|EFCAB1_uc011ldj.1_Missense_Mutation_p.R3H|EFCAB1_uc010lxx.2_RNA|EFCAB1_uc011ldk.1_RNA	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1 isoform a	3							calcium ion binding				0		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				CAGTTTCTTGCGGTTCATGTC	0.622												
SNTG1	54212	broad.mit.edu	37	8	51449331	51449331	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:51449331C>T	uc010lxy.1	+	12	1014	c.643C>T	c.(643-645)CGC>TGC	p.R215C	SNTG1_uc003xqs.1_Missense_Mutation_p.R215C|SNTG1_uc010lxz.1_Missense_Mutation_p.R215C|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	215					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ACTTCATTCGCGCTTCTCTCA	0.488												
PXDNL	137902	broad.mit.edu	37	8	52366130	52366130	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:52366130C>A	uc003xqu.3	-	10	1299	c.1198G>T	c.(1198-1200)GCC>TCC	p.A400S		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	400	Ig-like C2-type 2.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTATTGTTGGCATGACAGGTA	0.483												
NPBWR1	2831	broad.mit.edu	37	8	53852727	53852727	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:53852727C>T	uc011ldu.1	+	1	260	c.260C>T	c.(259-261)ACG>ATG	p.T87M		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	87	Helical; Name=2; (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GAGCTCTTCACGCTGGTGCTG	0.622												
MRPL15	29088	broad.mit.edu	37	8	55055348	55055348	+	Splice_Site	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:55055348T>C	uc003xsa.2	+	4	616	c.553_splice	c.e4+2	p.D185_splice		NM_014175	NP_054894	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15 precursor						translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome				0		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			GAAGTCTGGGTAAGTTTGTTC	0.363												
MOS	4342	broad.mit.edu	37	8	57026447	57026447	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:57026447G>A	uc011leb.1	-	1	95	c.95C>T	c.(94-96)GCG>GTG	p.A32V		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	32							ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)			AAGCAGCTTCGCAGGTAGCTC	0.697												
NSMAF	8439	broad.mit.edu	37	8	59502106	59502106	+	Missense_Mutation	SNP	G	G	A	rs146901191	by1000genomes	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:59502106G>A	uc003xtt.2	-	26	2330	c.2116C>T	c.(2116-2118)CGC>TGC	p.R706C	NSMAF_uc011lee.1_Missense_Mutation_p.R737C	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	706					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)				GTGTCCTGGCGTCTTCCAAAT	0.373												
CHD7	55636	broad.mit.edu	37	8	61736543	61736543	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:61736543A>G	uc003xue.2	+	13	3823	c.3346A>G	c.(3346-3348)AAG>GAG	p.K1116E	CHD7_uc003xuf.2_Missense_Mutation_p.K229E	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1116	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAGGAACTGCAAGCTGTTGGA	0.458												
CHD7	55636	broad.mit.edu	37	8	61764728	61764728	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:61764728G>A	uc003xue.2	+	29	6293	c.5816G>A	c.(5815-5817)CGG>CAG	p.R1939Q		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1939	Poly-Arg.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAGACTGACCGGCGCAGACGG	0.522												
TTPA	7274	broad.mit.edu	37	8	63973933	63973933	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:63973933C>A	uc003xux.1	-	5	747	c.715G>T	c.(715-717)GAC>TAC	p.D239Y		NM_000370	NP_000361	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	239	CRAL-TRIO.				lipid metabolic process		transporter activity|vitamin E binding				0	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	GGAAGAATGTCTGGGAAATGC	0.393												
C8orf44	56260	broad.mit.edu	37	8	67592020	67592020	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:67592020A>G	uc003xwo.1	+	3	464	c.311A>G	c.(310-312)AAG>AGG	p.K104R	SGK3_uc003xwp.2_5'UTR|C8orf44_uc003xwq.1_Missense_Mutation_p.K104R	NM_019607	NP_062553	Q96CB5	CH044_HUMAN	hypothetical protein LOC56260	104											0	Breast(64;0.186)		Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149)			AAAAGGCAAAAGGGGTCTTTG	0.413												
SGK3	23678	broad.mit.edu	37	8	67771720	67771720	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:67771720T>C	uc003xwr.2	+	17	1694	c.1395T>C	c.(1393-1395)TCT>TCC	p.S465S	SGK3_uc003xwp.2_Silent_p.S459S|SGK3_uc003xwt.2_Silent_p.S465S|SGK3_uc003xwu.2_Silent_p.S433S	NM_001033578	NP_001028750	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase 3 isoform	465	AGC-kinase C-terminal.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			ovary(1)|large_intestine(1)|lung(1)|breast(1)	4	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGTGTGTATCTTCTGACTATT	0.383												
ARFGEF1	10565	broad.mit.edu	37	8	68204282	68204282	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:68204282T>C	uc003xxo.1	-	6	1106	c.716A>G	c.(715-717)CAC>CGC	p.H239R		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	239					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTCAGGCTCGTGATGGCTTAC	0.403												
PREX2	80243	broad.mit.edu	37	8	69005938	69005938	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:69005938T>C	uc003xxv.1	+	21	2376	c.2349T>C	c.(2347-2349)GCT>GCC	p.A783A	PREX2_uc003xxu.1_Silent_p.A783A|PREX2_uc011lez.1_Silent_p.A718A	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	783					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						CAGGGGATGCTTTTGACTGTA	0.403												
PREX2	80243	broad.mit.edu	37	8	69028025	69028025	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:69028025C>T	uc003xxv.1	+	26	3211	c.3184C>T	c.(3184-3186)CGT>TGT	p.R1062C		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1062					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						TAAATTAGAACGTAAGACATC	0.348												
TRPA1	8989	broad.mit.edu	37	8	72975152	72975152	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:72975152A>G	uc003xza.2	-	6	864	c.689T>C	c.(688-690)TTG>TCG	p.L230S		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	230	Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	GTTAATGTGCAACTGTCTACT	0.358												
STAU2	27067	broad.mit.edu	37	8	74525998	74525998	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:74525998C>T	uc003xzm.2	-	9	1108	c.872G>A	c.(871-873)CGC>CAC	p.R291H	STAU2_uc011lfg.1_Missense_Mutation_p.R119H|STAU2_uc003xzn.2_Missense_Mutation_p.R259H|STAU2_uc011lfh.1_Missense_Mutation_p.R187H|STAU2_uc003xzo.2_Missense_Mutation_p.R291H|STAU2_uc003xzp.2_Missense_Mutation_p.R259H|STAU2_uc011lfi.1_Missense_Mutation_p.R253H|STAU2_uc003xzq.2_Missense_Mutation_p.R71H|STAU2_uc010lzk.2_Missense_Mutation_p.R259H|STAU2_uc010lzl.1_Missense_Mutation_p.R119H	NM_014393	NP_055208	Q9NUL3	STAU2_HUMAN	staufen homolog 2 isoform e	291	Nuclear localization signal 1 (By similarity).				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding				0	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TGTTTTAGGGCGTTTTTTAAA	0.348												
ZBTB10	65986	broad.mit.edu	37	8	81412237	81412237	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:81412237G>A	uc003ybx.3	+	2	2079	c.1481G>A	c.(1480-1482)CGG>CAG	p.R494Q	ZBTB10_uc003ybv.3_Missense_Mutation_p.R202Q|ZBTB10_uc003ybw.3_Missense_Mutation_p.R494Q|ZBTB10_uc010lzt.2_Missense_Mutation_p.R494Q	NM_001105539	NP_001099009	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10 isoform	494					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)	1	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			TCTTCATCACGGGATCAAAAA	0.373												
PAG1	55824	broad.mit.edu	37	8	81897572	81897572	+	Silent	SNP	G	G	A	rs113484085		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:81897572G>A	uc003ybz.2	-	7	1026	c.315C>T	c.(313-315)TAC>TAT	p.Y105Y		NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid	105	Cytoplasmic (Potential).			Y->F: No effect on interaction with FYN or CSK.	epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity				0	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GGACTTCCTCGTAATGCTGCA	0.498												
SNX16	64089	broad.mit.edu	37	8	82736084	82736084	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:82736084T>C	uc011lft.1	-	5	1061	c.554A>G	c.(553-555)CAA>CGA	p.Q185R	SNX16_uc003ycn.2_Missense_Mutation_p.Q185R|SNX16_uc003yco.2_Missense_Mutation_p.Q156R	NM_022133	NP_071416	P57768	SNX16_HUMAN	sorting nexin 16 isoform a	185	PX.				cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			ovary(1)|pancreas(1)	2						TAATCCTAATTGTCTGTCTTC	0.333												
MMP16	4325	broad.mit.edu	37	8	89086858	89086858	+	Silent	SNP	G	G	A	rs143304974	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:89086858G>A	uc003yeb.3	-	7	1479	c.1197C>T	c.(1195-1197)AGC>AGT	p.S399S	MMP16_uc003yec.2_Silent_p.S399S	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	399	Hemopexin-like 2.|Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						AATTCCCGTCGCTATTTTCAT	0.413												
OSGIN2	734	broad.mit.edu	37	8	90937290	90937290	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:90937290T>C	uc003yeg.2	+	6	1394	c.1048T>C	c.(1048-1050)TAT>CAT	p.Y350H	OSGIN2_uc003yeh.2_Missense_Mutation_p.Y394H	NM_004337	NP_004328	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family	350					germ cell development|meiosis						0			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CAAAAAGCTGTATCCTGAATA	0.378												
DECR1	1666	broad.mit.edu	37	8	91029419	91029419	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:91029419C>A	uc003yek.1	+	2	278	c.137C>A	c.(136-138)CCT>CAT	p.P46H	DECR1_uc011lgc.1_Missense_Mutation_p.P37H|DECR1_uc011lgd.1_Intron	NM_001359	NP_001350	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1 precursor	46					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH				0			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TTCTTTTCACCTCTTCAAAAA	0.353												
DECR1	1666	broad.mit.edu	37	8	91055016	91055016	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:91055016T>C	uc003yek.1	+	7	867	c.726T>C	c.(724-726)CCT>CCC	p.P242P	DECR1_uc011lgc.1_Silent_p.P233P|DECR1_uc011lgd.1_RNA	NM_001359	NP_001350	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1 precursor	242					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH				0			BRCA - Breast invasive adenocarcinoma(11;0.00953)			AACCAGGGCCTATAAAAACCA	0.313												
TMEM55A	55529	broad.mit.edu	37	8	92008941	92008941	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:92008941G>A	uc003yes.2	-	6	797	c.571C>T	c.(571-573)CGC>TGC	p.R191C		NM_018710	NP_061180	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	191						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity				0			BRCA - Breast invasive adenocarcinoma(11;0.033)			GCACAGCAGCGTCTTCGTGGA	0.358												
RBM12B	389677	broad.mit.edu	37	8	94747757	94747757	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:94747757A>G	uc003yfz.2	-	3	1075	c.882T>C	c.(880-882)AGT>AGC	p.S294S		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	294	RRM 2.						nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TTTCGTCAATACTGAGGGACA	0.338												
VPS13B	157680	broad.mit.edu	37	8	100147927	100147927	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:100147927G>A	uc003yiv.2	+	11	1640	c.1529G>A	c.(1528-1530)CGC>CAC	p.R510H	VPS13B_uc003yiw.2_Missense_Mutation_p.R510H|VPS13B_uc003yit.2_Missense_Mutation_p.R510H|VPS13B_uc003yiu.1_Missense_Mutation_p.R510H|VPS13B_uc003yix.1_5'Flank	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	510					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)			AATGGTACTCGCGCAGAATTT	0.358												
PABPC1	26986	broad.mit.edu	37	8	101721808	101721808	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:101721808T>C	uc003yjs.1	-	8	1628	c.1124A>G	c.(1123-1125)CAG>CGG	p.Q375R	PABPC1_uc011lhc.1_Missense_Mutation_p.Q343R|PABPC1_uc011lhd.1_Missense_Mutation_p.Q330R|PABPC1_uc003yjt.1_Missense_Mutation_p.Q372R|PABPC1_uc003yju.2_RNA	NM_002568	NP_002559	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	375					mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity				0	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GAGGTGAGCCTGGCGCTCTTC	0.493												
TRHR	7201	broad.mit.edu	37	8	110099786	110099786	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:110099786G>A	uc003ymz.3	+	1	61	c.45G>A	c.(43-45)CAG>CAA	p.Q15Q		NM_003301	NP_003292	P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	15	Extracellular (Potential).					integral to plasma membrane	thyrotropin-releasing hormone receptor activity			skin(2)|lung(1)	3			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CACAGCTTCAGCCACGAGCAG	0.448												
SYBU	55638	broad.mit.edu	37	8	110587852	110587852	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:110587852A>G	uc003ynj.3	-	7	1438	c.1275T>C	c.(1273-1275)GCT>GCC	p.A425A	SYBU_uc003yni.3_Silent_p.A422A|SYBU_uc003ynk.3_Silent_p.A306A|SYBU_uc010mco.2_Silent_p.A424A|SYBU_uc003ynl.3_Silent_p.A424A|SYBU_uc010mcp.2_Silent_p.A425A|SYBU_uc010mcq.2_Silent_p.A425A|SYBU_uc003yno.3_Silent_p.A306A|SYBU_uc010mcr.2_Silent_p.A425A|SYBU_uc003ynm.3_Silent_p.A424A|SYBU_uc003ynn.3_Silent_p.A424A|SYBU_uc010mcs.2_Silent_p.A306A|SYBU_uc010mct.2_Silent_p.A425A|SYBU_uc010mcu.2_Silent_p.A424A|SYBU_uc003ynp.3_Silent_p.A357A|SYBU_uc010mcv.2_Silent_p.A425A|SYBU_uc003ynh.3_Silent_p.A219A|SYBU_uc011lhw.1_Silent_p.A295A	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	425						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						GCTCCCTGTCAGCCCCTTCCC	0.527												
CSMD3	114788	broad.mit.edu	37	8	113293501	113293501	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:113293501A>C	uc003ynu.2	-	59	9569	c.9410T>G	c.(9409-9411)GTC>GGC	p.V3137G	CSMD3_uc003yns.2_Missense_Mutation_p.V2339G|CSMD3_uc003ynt.2_Missense_Mutation_p.V3097G|CSMD3_uc011lhx.1_Missense_Mutation_p.V2968G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3137	Extracellular (Potential).|Sushi 23.					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						GGAATAAATGACTGAACTAGA	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
CSMD3	114788	broad.mit.edu	37	8	113694851	113694851	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:113694851C>T	uc003ynu.2	-	16	2656	c.2497G>A	c.(2497-2499)GAA>AAA	p.E833K	CSMD3_uc003yns.2_Missense_Mutation_p.E105K|CSMD3_uc003ynt.2_Missense_Mutation_p.E793K|CSMD3_uc011lhx.1_Missense_Mutation_p.E729K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	833	Sushi 4.|Extracellular (Potential).					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						TCAGGGCATTCATTATGTCCA	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
TRPS1	7227	broad.mit.edu	37	8	116616692	116616692	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:116616692T>G	uc003ynz.2	-	3	1924	c.1465A>C	c.(1465-1467)AGT>CGT	p.S489R	TRPS1_uc011lhy.1_Missense_Mutation_p.S493R|TRPS1_uc003yny.2_Missense_Mutation_p.S502R|TRPS1_uc010mcy.2_Missense_Mutation_p.S489R	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	489					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CCTTCTGAACTTTTGGCTAGA	0.483									Langer-Giedion_syndrome			
TRPS1	7227	broad.mit.edu	37	8	116616856	116616856	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:116616856T>C	uc003ynz.2	-	3	1760	c.1301A>G	c.(1300-1302)TAC>TGC	p.Y434C	TRPS1_uc011lhy.1_Missense_Mutation_p.Y438C|TRPS1_uc003yny.2_Missense_Mutation_p.Y447C|TRPS1_uc010mcy.2_Missense_Mutation_p.Y434C	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	434					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTACACCAGTAGTAACTGGT	0.473									Langer-Giedion_syndrome			
RAD21	5885	broad.mit.edu	37	8	117859879	117859879	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:117859879G>A	uc003yod.2	-	14	2044	c.1756C>T	c.(1756-1758)CGA>TGA	p.R586*		NM_006265	NP_006256	O60216	RAD21_HUMAN	RAD21 homolog	586					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			lung(1)|skin(1)	2	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TTCGTATTTCGACATAACTCA	0.383												
NOV	4856	broad.mit.edu	37	8	120430323	120430323	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:120430323C>T	uc003yoq.2	+	3	557	c.336C>T	c.(334-336)TTC>TTT	p.F112F		NM_002514	NP_002505	P48745	NOV_HUMAN	nephroblastoma overexpressed precursor	112	VWFC.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			ovary(2)|skin(2)|kidney(1)	5	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACTGTGTGTTCGATGGGGTCA	0.483												
COL14A1	7373	broad.mit.edu	37	8	121259946	121259946	+	Silent	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:121259946C>A	uc003yox.2	+	21	2839	c.2574C>A	c.(2572-2574)GGC>GGA	p.G858G	COL14A1_uc003yoy.2_Silent_p.G536G	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	858	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CGGTGAAAGGCTATAGAATTG	0.443												
SQLE	6713	broad.mit.edu	37	8	126015640	126015640	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:126015640T>C	uc011liq.1	+	2	1440	c.514T>C	c.(514-516)TAT>CAT	p.Y172H		NM_003129	NP_003120	Q14534	ERG1_HUMAN	squalene epoxidase	172					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			ovary(1)|breast(1)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	GCCGGGTGGTTATCATGTTCT	0.448												
GSDMC	56169	broad.mit.edu	37	8	130788386	130788386	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:130788386A>G	uc003ysr.2	-	3	1248	c.366T>C	c.(364-366)GTT>GTC	p.V122V		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	melanoma-derived leucine zipper, extra-nuclear	122						mitochondrion				ovary(2)|skin(1)	3						ATGGGATGGTAACAATTTGAA	0.493												
TG	7038	broad.mit.edu	37	8	133881992	133881992	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:133881992C>T	uc003ytw.2	+	3	236	c.195C>T	c.(193-195)AAC>AAT	p.N65N		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	65	Thyroglobulin type-1 1.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGTGCCAGAACGACGGCCGCT	0.637												
WISP1	8840	broad.mit.edu	37	8	134225358	134225358	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:134225358C>T	uc003yub.2	+	2	397	c.321C>T	c.(319-321)CGC>CGT	p.R107R	WISP1_uc003yuc.2_Silent_p.R107R|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Silent_p.R107R|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_RNA	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	107	IGFBP N-terminal.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GCGGGGACCGCCCGAGGTACG	0.612												
COL22A1	169044	broad.mit.edu	37	8	139833608	139833608	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:139833608G>A	uc003yvd.2	-	7	1463	c.1016C>T	c.(1015-1017)GCT>GTT	p.A339V		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	339	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGCACCCACAGCGTTGTACTC	0.567										HNSCC(7;0.00092)		
COL22A1	169044	broad.mit.edu	37	8	139845316	139845316	+	Missense_Mutation	SNP	G	G	A	rs141938188		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:139845316G>A	uc003yvd.2	-	5	1258	c.811C>T	c.(811-813)CGG>TGG	p.R271W		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	271	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GATCCCATCCGTACATAGGAA	0.507										HNSCC(7;0.00092)		
LYPD2	137797	broad.mit.edu	37	8	143833859	143833859	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:143833859G>A	uc003ywz.2	-	1	94	c.11C>T	c.(10-12)ACG>ATG	p.T4M		NM_205545	NP_991108	Q6UXB3	LYPD2_HUMAN	LY6/PLAUR domain containing 2 precursor	4				T -> A (in Ref. 2; BAF83020).		anchored to membrane|plasma membrane					0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CGCCAGCCGCGTCCCCCGCAT	0.697												
TOP1MT	116447	broad.mit.edu	37	8	144403476	144403476	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:144403476G>A	uc003yxz.2	-	8	1060	c.1041C>T	c.(1039-1041)CAC>CAT	p.H347H	TOP1MT_uc011lkd.1_Silent_p.H249H|TOP1MT_uc011lke.1_Silent_p.H249H|TOP1MT_uc010mfb.2_Silent_p.H249H|TOP1MT_uc011lkf.1_Silent_p.H142H|TOP1MT_uc010mfd.1_Silent_p.H142H	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	mitochondrial topoisomerase I precursor	347					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GCAGCTGGACGTGCTCCACGC	0.617												
RHPN1	114822	broad.mit.edu	37	8	144463474	144463474	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:144463474G>A	uc003yyb.2	+	12	1581	c.1448G>A	c.(1447-1449)CGC>CAC	p.R483H		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	rhophilin 1	508					signal transduction	intracellular				large_intestine(1)	1	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			AGGATGCCACGCCTGTCCCAG	0.627												
ZNF623	9831	broad.mit.edu	37	8	144732671	144732671	+	Missense_Mutation	SNP	C	C	T	rs144210785	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:144732671C>T	uc003yzd.2	+	1	718	c.629C>T	c.(628-630)GCG>GTG	p.A210V	ZNF623_uc011lkp.1_Missense_Mutation_p.A170V|ZNF623_uc003yzc.2_Missense_Mutation_p.A170V	NM_014789	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623 isoform 1	210	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TTCAAATGTGCGCAGTGTGGG	0.473												
MAPK15	225689	broad.mit.edu	37	8	144803497	144803497	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:144803497G>A	uc003yzj.2	+	11	1161	c.1120G>A	c.(1120-1122)GAC>AAC	p.D374N		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	374					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			lung(2)	2	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACCCAGAGCCGACCCTCAGCT	0.647												
FAM83H	286077	broad.mit.edu	37	8	144812314	144812314	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:144812314C>T	uc003yzk.2	-	2	508	c.439G>A	c.(439-441)GCC>ACC	p.A147T	FAM83H_uc010mfk.1_5'Flank	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	147					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACCTGCTGGGCGGAACGGATC	0.657												
PLEC	5339	broad.mit.edu	37	8	145003396	145003396	+	Silent	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:145003396G>T	uc003zaf.1	-	25	3716	c.3546C>A	c.(3544-3546)GCC>GCA	p.A1182A	PLEC_uc003zab.1_Silent_p.A1045A|PLEC_uc003zac.1_Silent_p.A1049A|PLEC_uc003zad.2_Silent_p.A1045A|PLEC_uc003zae.1_Silent_p.A1013A|PLEC_uc003zag.1_Silent_p.A1023A|PLEC_uc003zah.2_Silent_p.A1031A|PLEC_uc003zaj.2_Silent_p.A1072A	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1182	Globular 1.				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						TCTCGGCCTCGGCAGAGAGCC	0.682												
PARP10	84875	broad.mit.edu	37	8	145057410	145057410	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:145057410G>A	uc003zal.3	-	8	2455	c.2347C>T	c.(2347-2349)CGC>TGC	p.R783C	PARP10_uc003zak.3_Missense_Mutation_p.R480C|PARP10_uc011lku.1_Missense_Mutation_p.R795C|PARP10_uc011lkv.1_Intron|PARP10_uc003zam.2_Missense_Mutation_p.R774C	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	783	Myc binding.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCAAGTGGCGGGCAGCACGG	0.657												
OPLAH	26873	broad.mit.edu	37	8	145111995	145111995	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:145111995C>A	uc003zar.3	-	12	1644	c.1562G>T	c.(1561-1563)GGG>GTG	p.G521V	OPLAH_uc003zas.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	521							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CAGGGCCAGCCCCAGGGCCGA	0.677												
HSF1	3297	broad.mit.edu	37	8	145535505	145535505	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:145535505C>T	uc003zbt.3	+	8	1013	c.843C>T	c.(841-843)GGC>GGT	p.G281G	HSF1_uc003zbu.3_RNA	NM_005526	NP_005517	Q00613	HSF1_HUMAN	heat shock transcription factor 1	281	Regulatory domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-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;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CCTCCCCCGGCGGGAGCATAG	0.682												
FBXL6	26233	broad.mit.edu	37	8	145579704	145579704	+	Missense_Mutation	SNP	T	T	C	rs61747069		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:145579704T>C	uc003zcb.2	-	8	1421	c.1396A>G	c.(1396-1398)AGC>GGC	p.S466G	C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_Missense_Mutation_p.S193G|FBXL6_uc003zca.2_Missense_Mutation_p.S460G|FBXL6_uc010mfx.2_Missense_Mutation_p.S227G|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6 isoform	466	LRR 10.				proteolysis		ubiquitin-protein ligase activity			ovary(1)|lung(1)	2	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-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;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CCAGGGGTGCTTAAGAAGGCA	0.607												
FBXL6	26233	broad.mit.edu	37	8	145580161	145580161	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:145580161G>A	uc003zcb.2	-	7	1049	c.1024C>T	c.(1024-1026)CCC>TCC	p.P342S	C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_Missense_Mutation_p.P69S|FBXL6_uc003zca.2_Missense_Mutation_p.P336S|FBXL6_uc010mfx.2_Missense_Mutation_p.P103S|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6 isoform	342	LRR 6.				proteolysis		ubiquitin-protein ligase activity			ovary(1)|lung(1)	2	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-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;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GGAGGCTTGGGCAGCCACATC	0.647												
ADCK5	203054	broad.mit.edu	37	8	145608327	145608327	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:145608327G>A	uc003zch.2	+	3	216	c.162G>A	c.(160-162)GCG>GCA	p.A54A	ADCK5_uc003zcg.2_RNA	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	54	Helical; (Potential).					integral to membrane	protein serine/threonine kinase activity			stomach(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-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;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TCTCCACCGCGGTAGTGGGGG	0.667												
CPSF1	29894	broad.mit.edu	37	8	145623932	145623932	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:145623932G>A	uc003zcj.2	-	18	1810	c.1735C>T	c.(1735-1737)CGG>TGG	p.R579W		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	579					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GAGTCTTCCCGGCTCAGAATC	0.677												
NFKBIL2	4796	broad.mit.edu	37	8	145662159	145662159	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:145662159A>G	uc011llg.1	-	15	1886	c.1871T>C	c.(1870-1872)GTC>GCC	p.V624A	uc011llh.1_RNA	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	624	ANK 3.				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-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;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCGGAGGGTGACGGACGCCCC	0.667												
DOCK8	81704	broad.mit.edu	37	9	376262	376262	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:376262T>C	uc003zgf.2	+	19	2274	c.2162T>C	c.(2161-2163)GTA>GCA	p.V721A	DOCK8_uc010mgu.2_Missense_Mutation_p.V23A|DOCK8_uc010mgv.2_Missense_Mutation_p.V653A|DOCK8_uc010mgw.1_Missense_Mutation_p.V23A|DOCK8_uc003zgk.2_Missense_Mutation_p.V179A|DOCK8_uc003zgh.2_RNA	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	721					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CATAAGGGAGTATTTAATATT	0.398												
KANK1	23189	broad.mit.edu	37	9	711731	711731	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:711731G>T	uc003zgl.1	+	7	1614	c.965G>T	c.(964-966)CGG>CTG	p.R322L	KANK1_uc003zgm.2_Missense_Mutation_p.R322L|KANK1_uc003zgn.1_Missense_Mutation_p.R322L|KANK1_uc003zgo.1_Missense_Mutation_p.R322L|KANK1_uc003zgp.1_Missense_Mutation_p.R322L|KANK1_uc003zgq.2_Missense_Mutation_p.R164L|KANK1_uc003zgr.1_Missense_Mutation_p.R164L|KANK1_uc003zgs.1_Missense_Mutation_p.R164L	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	322					negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GTGAGGAAGCGGTCCTATAGT	0.517												
GLIS3	169792	broad.mit.edu	37	9	3829471	3829471	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:3829471T>G	uc003zhw.1	-	9	2224	c.2030A>C	c.(2029-2031)AAG>ACG	p.K677T	GLIS3_uc003zhx.1_Missense_Mutation_p.K832T|GLIS3_uc010mhf.1_Missense_Mutation_p.K226T|GLIS3_uc003zhv.1_RNA	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	677					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GGGACAGAACTTCTGCAGCTG	0.532												
INSL6	11172	broad.mit.edu	37	9	5185339	5185339	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:5185339C>T	uc003zix.2	-	1	280	c.264G>A	c.(262-264)CCG>CCA	p.P88P		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	insulin-like 6 precursor	88						extracellular region	hormone activity				0	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		TTCCCCGGGCCGGGGAAGCGG	0.527												
CD274	29126	broad.mit.edu	37	9	5467858	5467858	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:5467858C>T	uc003zje.2	+	7	921	c.869C>T	c.(868-870)ACG>ATG	p.T290M	C9orf46_uc003zjd.2_Intron|CD274_uc010mhn.2_RNA|CD274_uc003zjf.2_Missense_Mutation_p.T176M	NM_014143	NP_054862	Q9NZQ7	PD1L1_HUMAN	CD274 molecule precursor	290	Cytoplasmic (Potential).				cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation	endomembrane system|integral to membrane	receptor activity			lung(1)|central_nervous_system(1)	2	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		TTGGAGGAGACGTAATCCAGC	0.423			T	CIITA	PMBL|Hodgkin Lymphona|							
UHRF2	115426	broad.mit.edu	37	9	6498070	6498070	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:6498070G>A	uc003zjy.2	+	12	2160	c.1820G>A	c.(1819-1821)CGC>CAC	p.R607H	UHRF2_uc003zjz.2_RNA|UHRF2_uc003zkb.2_RNA	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains	607	YDG.|Methyl-CpG binding and interaction with HDAC1.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		TTGGTTTGGCGCTATCTTTTA	0.383												
GLDC	2731	broad.mit.edu	37	9	6605272	6605272	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:6605272A>G	uc003zkc.2	-	6	913	c.720T>C	c.(718-720)ACT>ACC	p.T240T		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	240					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TGAGGACTCCAGTATATCTGG	0.423												
KDM4C	23081	broad.mit.edu	37	9	7013988	7013988	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:7013988A>G	uc003zkh.2	+	14	2749	c.2169A>G	c.(2167-2169)GTA>GTG	p.V723V	KDM4C_uc010mhu.2_Silent_p.V745V|KDM4C_uc011lmi.1_Silent_p.V723V|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Silent_p.V723V|KDM4C_uc011lmk.1_Silent_p.V468V|KDM4C_uc011lml.1_Silent_p.V410V	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	723	PHD-type 1.				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1						AGTGCTGCGTACGGGTTCATG	0.368												
MPDZ	8777	broad.mit.edu	37	9	13110649	13110649	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:13110649A>G	uc010mhy.2	-	42	5779	c.5728T>C	c.(5728-5730)TCC>CCC	p.S1910P	MPDZ_uc003zkx.3_Missense_Mutation_p.S134P|MPDZ_uc003zky.3_Missense_Mutation_p.S473P|MPDZ_uc010mib.2_Missense_Mutation_p.S644P|MPDZ_uc010mhx.2_Missense_Mutation_p.S761P|MPDZ_uc011lmm.1_Missense_Mutation_p.S798P|MPDZ_uc003zkz.3_Missense_Mutation_p.S632P|MPDZ_uc010mhz.2_Missense_Mutation_p.S1906P|MPDZ_uc011lmn.1_Missense_Mutation_p.S1877P|MPDZ_uc003zlb.3_Missense_Mutation_p.S1910P	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1939	PDZ 12.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		ATTTCAATGGAGCCAGATGCA	0.418												
MPDZ	8777	broad.mit.edu	37	9	13221391	13221391	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:13221391G>T	uc010mia.1	-	6	913	c.856C>A	c.(856-858)CCT>ACT	p.P286T	MPDZ_uc010mhy.2_Missense_Mutation_p.P286T|MPDZ_uc010mhz.2_Missense_Mutation_p.P286T|MPDZ_uc011lmn.1_Missense_Mutation_p.P286T|MPDZ_uc003zlb.3_Missense_Mutation_p.P286T	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	286	PDZ 2.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		ACTCCTCCAGGCAGAATGGTT	0.368												
SH3GL2	6456	broad.mit.edu	37	9	17795624	17795624	+	Silent	SNP	C	C	T	rs146755876		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:17795624C>T	uc003zna.2	+	9	1230	c.942C>T	c.(940-942)GGC>GGT	p.G314G	SH3GL2_uc011lmy.1_Silent_p.G267G	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	314	SH3.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			skin(1)	1				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		TTAAAGAGGGCGATATCATCA	0.478												
FAM154A	158297	broad.mit.edu	37	9	18928326	18928326	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:18928326A>G	uc003zni.1	-	4	1427	c.1149T>C	c.(1147-1149)CCT>CCC	p.P383P	FAM154A_uc010mip.1_Silent_p.P191P	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	hypothetical protein LOC158297	383										pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.53e-16)		TGGTATTGATAGGCAGGTGGG	0.582												
IFNA17	3451	broad.mit.edu	37	9	21227953	21227953	+	Missense_Mutation	SNP	T	T	C	rs150705157	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:21227953T>C	uc003zos.1	-	1	269	c.220A>G	c.(220-222)ACT>GCT	p.T74A	IFNA14_uc003zoo.1_Intron	NM_021268	NP_067091	P01571	IFN17_HUMAN	interferon, alpha 17 precursor	74					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding				0				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		ATGGCTTGAGTCTTCTGGAAC	0.502												
CDKN2A	1029	broad.mit.edu	37	9	21970967	21970967	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:21970967G>A	uc003zpk.2	-	2	603	c.391C>T	c.(391-393)CGC>TGC	p.R131C	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_3'UTR	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	131	ANK 4.				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(13)|p.R131H(4)|p.R128fs*12(3)|p.R128fs*9(2)|p.R131R(2)|p.R131L(1)|p.A118fs*10(1)|p.R131C(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCCGCGCGCAGGTACCGT	0.682		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)		
TEK	7010	broad.mit.edu	37	9	27206671	27206671	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:27206671T>C	uc003zqi.3	+	15	2898	c.2456T>C	c.(2455-2457)CTT>CCT	p.L819P	TEK_uc011lno.1_Missense_Mutation_p.L776P|TEK_uc011lnp.1_Missense_Mutation_p.L671P|TEK_uc003zqj.1_Missense_Mutation_p.L753P	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	819	Cytoplasmic (Potential).				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TATCCAGTGCTTGACTGGAAT	0.463												
TEK	7010	broad.mit.edu	37	9	27229174	27229174	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:27229174C>T	uc003zqi.3	+	23	3761	c.3319C>T	c.(3319-3321)CTT>TTT	p.L1107F	TEK_uc011lno.1_Missense_Mutation_p.L1064F|TEK_uc011lnp.1_Missense_Mutation_p.L959F	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	1107	Cytoplasmic (Potential).				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GAATACCACGCTTTATGAGAA	0.458												
LINGO2	158038	broad.mit.edu	37	9	27949193	27949193	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:27949193T>C	uc003zqu.1	-	2	1671	c.1477A>G	c.(1477-1479)ACC>GCC	p.T493A	LINGO2_uc010mjf.1_Missense_Mutation_p.T493A|LINGO2_uc003zqv.1_Missense_Mutation_p.T493A	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	493	Ig-like C2-type.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GCTGTGAAGGTATCATTCCCA	0.493												
DDX58	23586	broad.mit.edu	37	9	32466435	32466435	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:32466435T>C	uc003zra.2	-	16	2348	c.2190A>G	c.(2188-2190)AGA>AGG	p.R730R	DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Silent_p.R685R|DDX58_uc011lnr.1_Missense_Mutation_p.E526G|DDX58_uc010mji.2_Silent_p.R659R	NM_014314	NP_055129	O95786	DDX58_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	730	Helicase C-terminal.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			ovary(2)|liver(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TTGCTCTTCCTCTGCCTATTA	0.313												
TOPORS	10210	broad.mit.edu	37	9	32543953	32543953	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:32543953A>G	uc003zrb.2	-	3	737	c.570T>C	c.(568-570)GCT>GCC	p.A190A	TOPORS_uc003zrc.2_Silent_p.A123A	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	190	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AATACACAGAAGCATTTCGTT	0.453												
TAF1L	138474	broad.mit.edu	37	9	32630337	32630337	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:32630337T>A	uc003zrg.1	-	1	5331	c.5241A>T	c.(5239-5241)GAA>GAT	p.E1747D		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1747					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)		TTCCTTCCTCTTCATCTGCAA	0.483												
NFX1	4799	broad.mit.edu	37	9	33295421	33295421	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:33295421C>T	uc003zsq.2	+	2	1090	c.1029C>T	c.(1027-1029)CAC>CAT	p.H343H	SUGT1P1_uc010mjq.1_Intron|NFX1_uc011lnw.1_Silent_p.H343H|NFX1_uc003zso.2_Silent_p.H343H|NFX1_uc003zsp.1_Silent_p.H343H|NFX1_uc010mjr.1_Silent_p.H343H|NFX1_uc003zsr.2_Silent_p.H343H	NM_002504	NP_002495	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	343					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TGGAAACGCACACAGGTAAAC	0.358												
NFX1	4799	broad.mit.edu	37	9	33318813	33318813	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:33318813T>C	uc003zsq.2	+	8	1734	c.1673T>C	c.(1672-1674)TTA>TCA	p.L558S	SUGT1P1_uc010mjq.1_Intron|NFX1_uc011lnw.1_Missense_Mutation_p.L558S|NFX1_uc003zso.2_Missense_Mutation_p.L558S|NFX1_uc003zsp.1_Missense_Mutation_p.L558S|NFX1_uc010mjr.1_Missense_Mutation_p.L558S|NFX1_uc003zsr.2_Missense_Mutation_p.L558S	NM_002504	NP_002495	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	558					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TTCAGCTGTTTAAAGATATGT	0.383												
NOL6	65083	broad.mit.edu	37	9	33466161	33466161	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:33466161G>A	uc003zsz.2	-	18	2373	c.2272C>T	c.(2272-2274)CGA>TGA	p.R758*	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Nonsense_Mutation_p.R755*|NOL6_uc011lob.1_Nonsense_Mutation_p.R706*|NOL6_uc003ztb.1_Nonsense_Mutation_p.R758*	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	758					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AAGGCAGCTCGGACCCGCTGC	0.612												
VCP	7415	broad.mit.edu	37	9	35065361	35065361	+	Missense_Mutation	SNP	G	G	A	rs121909330		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:35065361G>A	uc003zvy.2	-	5	852	c.463C>T	c.(463-465)CGT>TGT	p.R155C	VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_5'UTR|VCP_uc010mki.1_Missense_Mutation_p.R110C	NM_007126	NP_009057	P55072	TERA_HUMAN	valosin-containing protein	155			R -> C (in IBMPFD; also in one patient without evidence of Paget disease of the bone).|R -> H (in IBMPFD; strongly reduced affinity for ADP and increased affinity for ATP).|R -> P (in IBMPFD).		activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			upper_aerodigestive_tract(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ATCCCACCACGGACAAGAAAA	0.493												
TLN1	7094	broad.mit.edu	37	9	35719097	35719097	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:35719097G>A	uc003zxt.2	-	16	2224	c.1870C>T	c.(1870-1872)CGC>TGC	p.R624C		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	624					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGGCACTGCGCAGCAGTTCT	0.637												
OR13J1	392309	broad.mit.edu	37	9	35869832	35869832	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:35869832G>A	uc011lph.1	-	1	567	c.567C>T	c.(565-567)TGC>TGT	p.C189C		NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J,	189	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			ACGTGTTGCCGCATGCCAGCT	0.597												
RNF38	152006	broad.mit.edu	37	9	36369774	36369774	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:36369774A>G	uc003zzh.2	-	4	703	c.512T>C	c.(511-513)CTA>CCA	p.L171P	RNF38_uc003zzi.2_Missense_Mutation_p.L121P|RNF38_uc003zzj.2_Missense_Mutation_p.L88P|RNF38_uc003zzk.2_Missense_Mutation_p.L88P|RNF38_uc003zzl.2_Missense_Mutation_p.L95P|RNF38_uc003zzm.2_Missense_Mutation_p.L88P	NM_022781	NP_073618	Q9H0F5	RNF38_HUMAN	ring finger protein 38 isoform 1	171							zinc ion binding			central_nervous_system(1)	1			STAD - Stomach adenocarcinoma(86;0.228)			AGCAGGATGTAGCAGACGGGG	0.463												
POLR1E	64425	broad.mit.edu	37	9	37493650	37493650	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:37493650G>A	uc003zzz.1	+	5	971	c.683G>A	c.(682-684)CGT>CAT	p.R228H	POLR1E_uc011lqj.1_Intron|POLR1E_uc003zzy.1_Missense_Mutation_p.R166H|POLR1E_uc011lqk.1_Missense_Mutation_p.R95H	NM_022490	NP_071935	Q9GZS1	RPA49_HUMAN	RNA polymerase I associated factor 53	228					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding				0				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		TCTTTGAATCGTGCAGTGGCT	0.443												
FRMPD1	22844	broad.mit.edu	37	9	37744582	37744582	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:37744582A>G	uc004aag.1	+	16	2597	c.2553A>G	c.(2551-2553)TCA>TCG	p.S851S	FRMPD1_uc004aah.1_Silent_p.S851S	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	851						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		CTCAGGTCTCATTTCCCCTGG	0.557												
PGM5	5239	broad.mit.edu	37	9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478												
TJP2	9414	broad.mit.edu	37	9	71836092	71836092	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:71836092G>A	uc004ahe.2	+	5	832	c.632G>A	c.(631-633)CGC>CAC	p.R211H	TJP2_uc011lrs.1_Missense_Mutation_p.R188H|TJP2_uc004ahb.1_Missense_Mutation_p.R188H|TJP2_uc011lrt.1_Missense_Mutation_p.R188H|TJP2_uc004ahd.2_Missense_Mutation_p.R211H|TJP2_uc004ahf.2_Missense_Mutation_p.R211H|TJP2_uc011lru.1_Missense_Mutation_p.R215H|TJP2_uc011lrv.1_Missense_Mutation_p.R233H	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	211					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						GACCATGCGCGCACCCGAGAC	0.776												
TRPM3	80036	broad.mit.edu	37	9	73152166	73152166	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:73152166G>A	uc004aid.2	-	25	4071	c.3827C>T	c.(3826-3828)GCC>GTC	p.A1276V	TRPM3_uc004ahu.2_Missense_Mutation_p.A1118V|TRPM3_uc004ahv.2_Missense_Mutation_p.A1078V|TRPM3_uc004ahw.2_Missense_Mutation_p.A1148V|TRPM3_uc004ahx.2_Missense_Mutation_p.A1135V|TRPM3_uc004ahy.2_Missense_Mutation_p.A1138V|TRPM3_uc004ahz.2_Missense_Mutation_p.A1125V|TRPM3_uc004aia.2_Missense_Mutation_p.A1123V|TRPM3_uc004aib.2_Missense_Mutation_p.A1113V|TRPM3_uc004aic.2_Missense_Mutation_p.A1276V	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1301	Cytoplasmic (Potential).|Potential.					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						GTTGGACTCGGCCCGCTCCAG	0.627												
TMEM2	23670	broad.mit.edu	37	9	74332975	74332975	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:74332975G>A	uc011lsa.1	-	13	2828	c.2288C>T	c.(2287-2289)GCA>GTA	p.A763V	TMEM2_uc010mos.2_Missense_Mutation_p.A700V|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	763						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TTCGGGGTTTGCATCCTGATG	0.348												
RORB	6096	broad.mit.edu	37	9	77300472	77300472	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:77300472A>G	uc004aji.2	+	10	1400	c.1351A>G	c.(1351-1353)ACA>GCA	p.T451A	RORB_uc004ajh.2_Missense_Mutation_p.T440A	NM_006914	NP_008845	Q92753	RORB_HUMAN	RAR-related orphan receptor B	451	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						GATAGTGAATACACTGTTTCC	0.458												
FOXB2	442425	broad.mit.edu	37	9	79635851	79635851	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:79635851G>A	uc004ako.1	+	1	1281	c.1281G>A	c.(1279-1281)TCG>TCA	p.S427S		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	forkhead box B2	427					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						CCTTGCACTCGGTGCTAGTGC	0.726												
TLE4	7091	broad.mit.edu	37	9	82321726	82321726	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:82321726G>A	uc004ald.2	+	11	1676	c.827G>A	c.(826-828)CGC>CAC	p.R276H	TLE4_uc004alc.2_Missense_Mutation_p.R283H|TLE4_uc010mpr.2_Missense_Mutation_p.R162H|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Missense_Mutation_p.R251H|TLE4_uc010mps.2_Intron|TLE4_uc004alf.2_Missense_Mutation_p.R222H	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5						GACAAGACACGCCTGCTCAAG	0.517												
TLE1	7088	broad.mit.edu	37	9	84225140	84225140	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:84225140C>T	uc004aly.2	-	14	1767	c.1326G>A	c.(1324-1326)GGG>GGA	p.G442G	TLE1_uc004alz.2_Silent_p.G452G|TLE1_uc011lsr.1_Silent_p.G427G|TLE1_uc004ama.1_Silent_p.G441G	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	442	Pro/Ser-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)|skin(1)	2						CTTACGGTTTCCCCCCAGGGA	0.473												
FLJ46321	389763	broad.mit.edu	37	9	84607025	84607025	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:84607025T>G	uc004amn.2	+	4	1687	c.1640T>G	c.(1639-1641)CTT>CGT	p.L547R		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	547						integral to membrane					0						TCCCCAGTACTTCCCCCTCCC	0.502												
DAPK1	1612	broad.mit.edu	37	9	90264945	90264945	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:90264945C>T	uc004apc.2	+	16	1676	c.1538C>T	c.(1537-1539)ACG>ATG	p.T513M	DAPK1_uc004ape.2_Missense_Mutation_p.T513M|DAPK1_uc004apd.2_Missense_Mutation_p.T513M|DAPK1_uc011ltg.1_Missense_Mutation_p.T513M|DAPK1_uc011lth.1_Missense_Mutation_p.T250M|DAPK1_uc004apf.1_Missense_Mutation_p.T67M	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	513	ANK 5.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						GAAGGAGAGACGCCCCTCCTG	0.582									Chronic_Lymphocytic_Leukemia_Familial_Clustering_of			
DIRAS2	54769	broad.mit.edu	37	9	93376013	93376013	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:93376013G>A	uc004aqx.1	-	2	208	c.97C>T	c.(97-99)CGG>TGG	p.R33W		NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN	Di-Ras2	33	GTP.				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity				0						TAGCTCTCCCGGAATGTGCCT	0.567												
SYK	6850	broad.mit.edu	37	9	93650880	93650880	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:93650880C>T	uc004aqz.2	+	13	2011	c.1806C>T	c.(1804-1806)TAC>TAT	p.Y602Y	SYK_uc004ara.2_Silent_p.Y579Y|SYK_uc004arb.2_Silent_p.Y579Y|SYK_uc004arc.2_Silent_p.Y602Y|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	NM_003177	NP_003168	P43405	KSYK_HUMAN	spleen tyrosine kinase isoform 1	602	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						GAGAGATGTACGATCTCATGA	0.478			T	ETV6|ITK	MDS|peripheral T-cell lymphoma							
AUH	549	broad.mit.edu	37	9	93978376	93978376	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:93978376T>C	uc004arf.3	-	9	942	c.907A>G	c.(907-909)ACA>GCA	p.T303A	AUH_uc004arg.3_Missense_Mutation_p.T274A	NM_001698	NP_001689	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-Coenzyme A	303					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding				0						GCTAACCCTGTTACTAAATCG	0.318												
WNK2	65268	broad.mit.edu	37	9	95997117	95997117	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:95997117T>C	uc004ati.1	+	4	1103	c.1103T>C	c.(1102-1104)ATG>ACG	p.M368T	WNK2_uc011lud.1_Missense_Mutation_p.M368T|WNK2_uc004atj.2_Missense_Mutation_p.M368T|WNK2_uc004atk.2_Missense_Mutation_p.M5T|WNK2_uc010mrc.1_Missense_Mutation_p.M368T|WNK2_uc010mrd.1_Missense_Mutation_p.M5T	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	368	Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						GCGCCCGAGATGTACGAGGAG	0.617												
FAM120A	23196	broad.mit.edu	37	9	96233460	96233460	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:96233460T>C	uc004atw.2	+	2	537	c.512T>C	c.(511-513)ATT>ACT	p.I171T	FAM120A_uc004atv.2_Missense_Mutation_p.I171T|FAM120A_uc004atx.2_5'UTR|FAM120A_uc004aty.2_5'UTR	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	171						cytoplasm|plasma membrane	RNA binding				0						CAGGAAGTGATTGGTTTCTGC	0.443												
FAM120A	23196	broad.mit.edu	37	9	96320179	96320179	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:96320179G>T	uc004atw.2	+	14	2580	c.2555G>T	c.(2554-2556)AGC>ATC	p.S852I	FAM120A_uc004aty.2_Missense_Mutation_p.S633I|FAM120A_uc004atz.2_Missense_Mutation_p.S501I|FAM120A_uc010mrg.2_Missense_Mutation_p.S165I	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	852	RNA binding.					cytoplasm|plasma membrane	RNA binding				0						TCCAGGCAGAGCCACACGCTC	0.642												
C9orf102	375748	broad.mit.edu	37	9	98728851	98728851	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:98728851A>G	uc004avt.3	+	14	2376	c.1988A>G	c.(1987-1989)CAC>CGC	p.H663R	C9orf102_uc011lum.1_Missense_Mutation_p.H365R|C9orf102_uc010mry.1_Missense_Mutation_p.H365R|C9orf102_uc010mrz.2_Missense_Mutation_p.H474R|C9orf102_uc004avu.2_5'UTR	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	663	Helicase C-terminal.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)				TAGCAACTTCACTGTGTGGTG	0.388												
ZNF510	22869	broad.mit.edu	37	9	99537116	99537116	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:99537116C>T	uc004awn.1	-	3	272	c.83G>A	c.(82-84)CGG>CAG	p.R28Q	ZNF510_uc004awo.1_Missense_Mutation_p.R28Q	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)				TGTGGAGAACCGTAAAGGATA	0.453												
ZNF462	58499	broad.mit.edu	37	9	109746489	109746489	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:109746489A>C	uc004bcz.2	+	10	7144	c.6855A>C	c.(6853-6855)GAA>GAC	p.E2285D	ZNF462_uc010mto.2_Missense_Mutation_p.E2194D|ZNF462_uc004bda.2_Missense_Mutation_p.E2193D|ZNF462_uc011lvz.1_Missense_Mutation_p.E242D|uc004bdc.1_Intron	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	2285					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						TCCCCATTGAAGTTTGCCGGT	0.428												
RAD23B	5887	broad.mit.edu	37	9	110081036	110081036	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:110081036C>T	uc004bde.2	+	6	924	c.557C>T	c.(556-558)ACG>ATG	p.T186M	RAD23B_uc011lwa.1_Missense_Mutation_p.T186M|RAD23B_uc011lwb.1_Missense_Mutation_p.T165M	NM_002874	NP_002865	P54727	RD23B_HUMAN	UV excision repair protein RAD23 homolog B	186					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			ovary(1)	1						TTTTTAGTGACGGGTCAGTCT	0.328								Direct_reversal_of_damage|NER				
ACTL7B	10880	broad.mit.edu	37	9	111617896	111617896	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:111617896C>T	uc004bdi.2	-	1	380	c.315G>A	c.(313-315)ACG>ACA	p.T105T		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	105						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1						GAGGCGCCTCCGTGTTGAGCA	0.632												
ACTL7A	10881	broad.mit.edu	37	9	111625773	111625773	+	Missense_Mutation	SNP	G	G	T	rs142768089	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:111625773G>T	uc004bdj.1	+	1	1171	c.1171G>T	c.(1171-1173)GTG>TTG	p.V391L		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	actin-like 7A	391						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton				0						GCAGGTAAACGTGCTGCCTGA	0.587												
HSDL2	84263	broad.mit.edu	37	9	115166397	115166397	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:115166397A>G	uc004bga.1	+	2	233	c.140A>G	c.(139-141)CAT>CGT	p.H47R	HSDL2_uc011lwv.1_Intron|HSDL2_uc004bgb.1_5'UTR|HSDL2_uc004bgc.1_Missense_Mutation_p.H47R|HSDL2_uc011lww.1_5'UTR	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	47						peroxisome	oxidoreductase activity|sterol binding				0						GCCCAGCCACATCCAAAACTT	0.418												
ZNF883	169834	broad.mit.edu	37	9	115759687	115759687	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:115759687T>G	uc011lwy.1	-	5	2092	c.853A>C	c.(853-855)AAA>CAA	p.K285Q		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	hypothetical protein LOC169834	285	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GAATGAATTTTTAGATGTTCA	0.378												
COL27A1	85301	broad.mit.edu	37	9	117062942	117062942	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:117062942G>C	uc011lxl.1	+	51	4676	c.4676G>C	c.(4675-4677)GGC>GCC	p.G1559A	COL27A1_uc004bii.2_RNA	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	1559	Collagen-like 15.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						GGCATCCAGGGCCCTCGGGGG	0.627												
PAPPA	5069	broad.mit.edu	37	9	118950337	118950337	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:118950337C>G	uc004bjn.2	+	2	1701	c.1320C>G	c.(1318-1320)TGC>TGG	p.C440W	PAPPA_uc011lxp.1_Missense_Mutation_p.C233W|PAPPA_uc011lxq.1_Missense_Mutation_p.C233W	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	440	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						GCGGGGATTGCCGCCACCTGC	0.592												
ASTN2	23245	broad.mit.edu	37	9	119413813	119413813	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:119413813T>C	uc004bjs.1	-	17	3167	c.3066A>G	c.(3064-3066)ACA>ACG	p.T1022T	ASTN2_uc004bjr.1_Silent_p.T1018T|ASTN2_uc004bjt.1_Silent_p.T971T|ASTN2_uc004bjp.1_Silent_p.T115T|ASTN2_uc004bjq.1_Silent_p.T74T|ASTN2_uc011lxr.1_Silent_p.T74T|ASTN2_uc011lxs.1_Silent_p.T74T|ASTN2_uc011lxt.1_Silent_p.T74T|ASTN2_uc004bjv.1_Silent_p.T74T	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	1022	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						TCACCTCCTTTGTGCCATTGT	0.557												
TRIM32	22954	broad.mit.edu	37	9	119461051	119461051	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:119461051C>T	uc004bjx.2	+	2	1188	c.1030C>T	c.(1030-1032)CGG>TGG	p.R344W	ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.R344W	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN	tripartite motif-containing 32	344					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|kidney(1)	3						TGCTAAACAGCGGGGTCCTGA	0.557									Bardet-Biedl_syndrome			
DBC1	1620	broad.mit.edu	37	9	121929568	121929568	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:121929568G>A	uc004bkc.2	-	8	2536	c.2080C>T	c.(2080-2082)CTC>TTC	p.L694F		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	694					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						AACAAGAGGAGCATCACTGAC	0.577												
DBC1	1620	broad.mit.edu	37	9	121929812	121929812	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:121929812G>A	uc004bkc.2	-	8	2292	c.1836C>T	c.(1834-1836)TTC>TTT	p.F612F		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	612					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						GGACCGTCTCGAAAAATGTTT	0.552												
DBC1	1620	broad.mit.edu	37	9	121971057	121971057	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:121971057T>C	uc004bkc.2	-	7	1541	c.1085A>G	c.(1084-1086)AAG>AGG	p.K362R		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	362					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						GCCGAAAAGCTTGCGGGCAGT	0.587												
CDK5RAP2	55755	broad.mit.edu	37	9	123210224	123210224	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:123210224C>T	uc004bkf.2	-	22	3155	c.2974G>A	c.(2974-2976)GCT>ACT	p.A992T	CDK5RAP2_uc010mvi.2_Missense_Mutation_p.A42T|CDK5RAP2_uc004bke.2_Missense_Mutation_p.A277T|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.A992T|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.A257T|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.A257T|CDK5RAP2_uc011lya.1_Missense_Mutation_p.A257T|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.A762T|CDK5RAP2_uc004bki.2_Missense_Mutation_p.A759T	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	992	Interaction with MAPRE1.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						ACTGCTTCAGCCAGAATTAAC	0.498												
C5	727	broad.mit.edu	37	9	123794459	123794459	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:123794459G>A	uc004bkv.2	-	6	629	c.599C>T	c.(598-600)ACG>ATG	p.T200M	C5_uc010mvm.1_Missense_Mutation_p.T200M|C5_uc010mvn.1_Missense_Mutation_p.T200M	NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	200					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	AGCCTTGATCGTCCACATACC	0.279												
STOM	2040	broad.mit.edu	37	9	124111494	124111494	+	Silent	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:124111494G>T	uc004blh.2	-	5	509	c.429C>A	c.(427-429)ACC>ACA	p.T143T	STOM_uc011lyk.1_Silent_p.T92T|STOM_uc004bli.2_Intron	NM_004099	NP_004090	P27105	STOM_HUMAN	stomatin isoform a	143	Cytoplasmic (Potential).				protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding				0				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		CCAAAAGACGGGTTGCTGAGT	0.478												
STOM	2040	broad.mit.edu	37	9	124116898	124116898	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:124116898T>C	uc004blh.2	-	3	299	c.219A>G	c.(217-219)CAA>CAG	p.Q73Q	STOM_uc011lyk.1_Silent_p.Q22Q|STOM_uc004bli.2_Intron	NM_004099	NP_004090	P27105	STOM_HUMAN	stomatin isoform a	73	Cytoplasmic (Potential).				protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding				0				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		TGGCTCCTCCTTGTAAAATGC	0.284												
PTGS1	5742	broad.mit.edu	37	9	125154583	125154583	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:125154583T>C	uc004bmg.1	+	11	1695	c.1560T>C	c.(1558-1560)AGT>AGC	p.S520S	PTGS1_uc011lys.1_Silent_p.S458S|PTGS1_uc010mwb.1_Silent_p.S374S|PTGS1_uc004bmf.1_Silent_p.S483S|PTGS1_uc004bmh.1_Silent_p.S411S|PTGS1_uc011lyt.1_Silent_p.S411S	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	520					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|skin(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	TTGGGGAGAGTATGATAGAGA	0.512												
STRBP	55342	broad.mit.edu	37	9	125909141	125909141	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:125909141G>A	uc004bns.2	-	13	1761	c.1331C>T	c.(1330-1332)GCG>GTG	p.A444V	STRBP_uc004bnt.2_Missense_Mutation_p.A262V|STRBP_uc004bnu.2_Missense_Mutation_p.A430V|STRBP_uc004bnv.2_Missense_Mutation_p.A444V|STRBP_uc004bnr.2_Missense_Mutation_p.A56V	NM_018387	NP_060857	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	444	DRBM 1.				multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|skin(1)	2						TACCTTCACCGCTACGTGAAG	0.353												
ZNF79	7633	broad.mit.edu	37	9	130197442	130197442	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:130197442G>A	uc004bqw.3	+	3	593	c.179G>A	c.(178-180)CGG>CAG	p.R60Q	ZNF79_uc011maf.1_Missense_Mutation_p.R36Q|ZNF79_uc011mag.1_Missense_Mutation_p.R36Q	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	zinc finger protein 79	60	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						TCTACTCCACGGGACAGGTTC	0.453												
FAM129B	64855	broad.mit.edu	37	9	130280190	130280190	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:130280190G>T	uc004brh.2	-	6	822	c.620C>A	c.(619-621)CCT>CAT	p.P207H	FAM129B_uc004bri.2_Missense_Mutation_p.P194H|FAM129B_uc004brj.3_Missense_Mutation_p.P207H	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	207							protein binding				0						TGTGAACGCAGGGCCCTCTAC	0.612												
DNM1	1759	broad.mit.edu	37	9	130986540	130986540	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:130986540T>C	uc011mau.1	+	10	1294	c.1207T>C	c.(1207-1209)TTT>CTT	p.F403L	DNM1_uc010mxr.2_Intron|DNM1_uc011mat.1_Missense_Mutation_p.F403L	NM_004408	NP_004399	Q05193	DYN1_HUMAN	dynamin 1 isoform 1	403					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			ovary(2)	2						AACGGGGCTGTTTACCCCAGA	0.348												
TRUB2	26995	broad.mit.edu	37	9	131076121	131076121	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:131076121A>G	uc004buq.1	-	5	436	c.426T>C	c.(424-426)CGT>CGC	p.R142R		NM_015679	NP_056494	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase homolog 2	142					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			ovary(1)	1						TCCCGTCCTCACGGAAGTCAT	0.572												
SLC27A4	10999	broad.mit.edu	37	9	131110839	131110839	+	Missense_Mutation	SNP	A	A	G	rs148956936		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:131110839A>G	uc004but.2	+	4	856	c.572A>G	c.(571-573)CAT>CGT	p.H191R	SLC27A4_uc004buu.2_Intron	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid	191					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding				0						TGTGAGGTCCATGCCAGCCTG	0.632												
PKN3	29941	broad.mit.edu	37	9	131468079	131468079	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:131468079G>A	uc004bvw.2	+	3	725	c.332G>A	c.(331-333)CGG>CAG	p.R111Q	PKN3_uc010myh.2_Missense_Mutation_p.R111Q|PKN3_uc011mbk.1_5'UTR	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	protein kinase PKNbeta	111	REM 2.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			stomach(2)|lung(2)	4						GAGGCTCTCCGGAGGCAGCTG	0.657												
ABL1	25	broad.mit.edu	37	9	133759579	133759579	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:133759579C>T	uc004bzw.2	+	11	1905	c.1902C>T	c.(1900-1902)GGC>GGT	p.G634G	ABL1_uc004bzv.2_Silent_p.G653G	NM_005157	NP_005148	P00519	ABL1_HUMAN	c-abl oncogene 1, receptor tyrosine kinase	634					actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GAGGGGCCGGCGAGGAAGAGG	0.647			T|Mis	BCR|ETV6|NUP214	CML|ALL|T-ALL							
BAT2L1	84726	broad.mit.edu	37	9	134357813	134357813	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:134357813G>A	uc004can.3	+	20	5094	c.5039G>A	c.(5038-5040)CGG>CAG	p.R1680Q	BAT2L1_uc004cao.3_Missense_Mutation_p.R1037Q|BAT2L1_uc004cap.3_5'Flank	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1680							protein binding				0						GCCGAGTCTCGGGAGTCGTCT	0.602												
RALGDS	5900	broad.mit.edu	37	9	135982497	135982497	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:135982497A>G	uc004cco.2	-	7	1408	c.1388T>C	c.(1387-1389)GTG>GCG	p.V463A	RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Missense_Mutation_p.V451A|RALGDS_uc004ccr.2_Missense_Mutation_p.V462A|RALGDS_uc011mcv.1_Missense_Mutation_p.V434A|RALGDS_uc004ccs.2_Missense_Mutation_p.V408A|RALGDS_uc011mcw.1_Missense_Mutation_p.V534A|RALGDS_uc004ccv.1_Missense_Mutation_p.V232A|RALGDS_uc004ccu.1_Missense_Mutation_p.V232A	NM_006266	NP_006257	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	463	Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CCAGTGCTCCACCACCCTGGC	0.622			T	CIITA	PMBL|Hodgkin Lymphona|							
C9orf96	169436	broad.mit.edu	37	9	136251429	136251429	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:136251429C>T	uc004cdk.2	+	4	309	c.248C>T	c.(247-249)GCC>GTC	p.A83V	C9orf96_uc004cdl.2_RNA	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	hypothetical protein LOC169436	83	Protein kinase.						ATP binding|protein kinase activity			stomach(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTGCGGCACGCCCACATCTCT	0.607												
C9orf7	11094	broad.mit.edu	37	9	136328610	136328610	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:136328610G>A	uc011mdg.1	+	2	229	c.127G>A	c.(127-129)GCG>ACG	p.A43T	C9orf7_uc004cec.2_Missense_Mutation_p.A43T|C9orf7_uc011mdh.1_Missense_Mutation_p.A43T|C9orf7_uc011mdi.1_Missense_Mutation_p.A43T|C9orf7_uc010nan.2_RNA	NM_017586	NP_060056	Q9UGQ2	FLOWR_HUMAN	hypothetical protein LOC11094 isoform a	43	Helical; (Potential).					integral to membrane					0				GBM - Glioblastoma multiforme(294;5.7e-39)|all cancers(34;1.83e-23)|OV - Ovarian serous cystadenocarcinoma(145;8.94e-08)|Epithelial(140;1.01e-06)		TCAAGCTTGCGCGATCTCTGG	0.612												
C9orf7	11094	broad.mit.edu	37	9	136328658	136328658	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:136328658G>A	uc011mdg.1	+	2	277	c.175G>A	c.(175-177)GCG>ACG	p.A59T	C9orf7_uc004cec.2_Missense_Mutation_p.A59T|C9orf7_uc011mdh.1_Missense_Mutation_p.A59T|C9orf7_uc011mdi.1_Missense_Mutation_p.A59T|C9orf7_uc010nan.2_RNA	NM_017586	NP_060056	Q9UGQ2	FLOWR_HUMAN	hypothetical protein LOC11094 isoform a	59	Helical; (Potential).					integral to membrane					0				GBM - Glioblastoma multiforme(294;5.7e-39)|all cancers(34;1.83e-23)|OV - Ovarian serous cystadenocarcinoma(145;8.94e-08)|Epithelial(140;1.01e-06)		TCTGAACATTGCGGCCGGCGT	0.622												
COL5A1	1289	broad.mit.edu	37	9	137622201	137622201	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:137622201G>A	uc004cfe.2	+	7	1426	c.1044G>A	c.(1042-1044)ACG>ACA	p.T348T		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	348	Nonhelical 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)		ACTACTACACGCCCTCACCGT	0.632												
FCN2	2220	broad.mit.edu	37	9	137777737	137777737	+	Missense_Mutation	SNP	G	G	A	rs55860122		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:137777737G>A	uc004cfg.1	+	6	563	c.553G>A	c.(553-555)GCC>ACC	p.A185T	FCN2_uc004cfh.1_Missense_Mutation_p.A147T	NM_004108	NP_004099	Q15485	FCN2_HUMAN	ficolin 2 isoform a precursor	185	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			large_intestine(1)	1		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CGCCCTGACCGCCCAGGGTAG	0.672												
CAMSAP1	157922	broad.mit.edu	37	9	138712780	138712780	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:138712780C>G	uc004cgr.3	-	11	3727	c.3727G>C	c.(3727-3729)GCC>CCC	p.A1243P	CAMSAP1_uc004cgq.3_Missense_Mutation_p.A1133P|CAMSAP1_uc010nbg.2_Missense_Mutation_p.A965P	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	1243						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TCGTCGGGGGCCTTCAGGTCG	0.627												
UBAC1	10422	broad.mit.edu	37	9	138847166	138847166	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:138847166G>A	uc004cgt.2	-	2	452	c.234C>T	c.(232-234)ATC>ATT	p.I78I	UBAC1_uc004cgs.1_Silent_p.I78I|UBAC1_uc004cgu.2_RNA	NM_016172	NP_057256	Q9BSL1	UBAC1_HUMAN	ubiquitin associated domain containing 1	78	Ubiquitin-like.					Golgi apparatus|plasma membrane	protein binding			skin(2)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		TCTCTTCCAGGATGGTCCTGG	0.582												
NOTCH1	4851	broad.mit.edu	37	9	139396735	139396735	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:139396735G>A	uc004chz.2	-	28	5373	c.5373C>T	c.(5371-5373)TCC>TCT	p.S1791S		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1791	Cytoplasmic (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGAGGCCCACGGAGTCCTCGC	0.701			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)		
LCN8	138307	broad.mit.edu	37	9	139649870	139649870	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:139649870A>G	uc004cjb.1	-	4	674	c.325T>C	c.(325-327)TAC>CAC	p.Y109H	LCN8_uc004cja.2_RNA	NM_178469	NP_848564	Q6JVE9	LCN8_HUMAN	lipocalin 8	132					transport	extracellular region	binding			pancreas(1)	1	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		TTACTAAAGTACTTGAGGACG	0.652												
ABCA2	20	broad.mit.edu	37	9	139911742	139911742	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:139911742A>G	uc011mem.1	-	17	2604	c.2456T>C	c.(2455-2457)ATC>ACC	p.I819T	ABCA2_uc011mel.1_Missense_Mutation_p.I820T|ABCA2_uc004ckl.1_Missense_Mutation_p.I750T|ABCA2_uc004ckm.1_Missense_Mutation_p.I850T|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	819	Helical; (Potential).				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GAAGTAGATGATGCCACCGCA	0.632												
MAN1B1	11253	broad.mit.edu	37	9	140002104	140002104	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:140002104G>A	uc004cld.2	+	12	1921	c.1886G>A	c.(1885-1887)CGA>CAA	p.R629Q	MAN1B1_uc011mep.1_Missense_Mutation_p.R629Q|MAN1B1_uc010ncc.2_RNA|MAN1B1_uc004clf.1_Missense_Mutation_p.R302Q|MAN1B1_uc004clg.1_RNA	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	alpha 1,2-mannosidase	629	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			ovary(1)|central_nervous_system(1)	2	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		AGCTTCAGCCGATTCACACGG	0.667												
NELF	26012	broad.mit.edu	37	9	140348239	140348239	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:140348239C>T	uc004cna.2	-	8	1098	c.866G>A	c.(865-867)CGG>CAG	p.R289Q	C9orf167_uc011mew.1_Intron|NELF_uc011mex.1_Missense_Mutation_p.R86Q|NELF_uc010nci.2_Intron|NELF_uc011mey.1_Intron|NELF_uc011mez.1_Missense_Mutation_p.R266Q|NELF_uc004cmz.2_Missense_Mutation_p.R287Q|NELF_uc004cnc.2_Missense_Mutation_p.R264Q|NELF_uc004cnb.2_Intron	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN	nasal embryonic LHRH factor isoform a	289						nucleus|plasma membrane					0	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)		GCTCCAGGACCGGCTGAAGCT	0.697												
EHMT1	79813	broad.mit.edu	37	9	140611142	140611142	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:140611142G>A	uc011mfc.1	+	3	187	c.150G>A	c.(148-150)GCG>GCA	p.A50A	EHMT1_uc004coa.2_Silent_p.A50A|EHMT1_uc004cob.1_Silent_p.A19A	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	50					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ACATGGCTGCGGACGGTGAGA	0.562												
CLCN4	1183	broad.mit.edu	37	X	10176320	10176320	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:10176320G>A	uc004csy.3	+	9	1509	c.1079G>A	c.(1078-1080)CGC>CAC	p.R360H	CLCN4_uc011mid.1_Missense_Mutation_p.R266H	NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	360						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						TGCAGGAGGCGCAAGACCACC	0.597												
FANCB	2187	broad.mit.edu	37	X	14883542	14883542	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:14883542T>G	uc004cwg.1	-	3	359	c.91A>C	c.(91-93)AAT>CAT	p.N31H	FANCB_uc004cwh.1_Missense_Mutation_p.N31H	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN	Fanconi anemia complementation group B	31					DNA repair	nucleoplasm				lung(1)	1	Hepatocellular(33;0.183)					TCTGCAAAATTTCCTTTAGAC	0.363								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
NHS	4810	broad.mit.edu	37	X	17744772	17744772	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:17744772C>T	uc004cxx.2	+	6	2821	c.2483C>T	c.(2482-2484)CCG>CTG	p.P828L	NHS_uc011mix.1_Missense_Mutation_p.P849L|NHS_uc004cxy.2_Missense_Mutation_p.P672L|NHS_uc004cxz.2_Missense_Mutation_p.P651L|NHS_uc004cya.2_Missense_Mutation_p.P551L	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	828						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					AAGGCAAAGCCGACCCCACCT	0.502												
NHS	4810	broad.mit.edu	37	X	17745811	17745811	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:17745811T>C	uc004cxx.2	+	6	3860	c.3522T>C	c.(3520-3522)ACT>ACC	p.T1174T	NHS_uc011mix.1_Silent_p.T1195T|NHS_uc004cxy.2_Silent_p.T1018T|NHS_uc004cxz.2_Silent_p.T997T|NHS_uc004cya.2_Silent_p.T897T	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	1174						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					AATACTCCACTGAAGACACCA	0.403												
SH3KBP1	30011	broad.mit.edu	37	X	19587236	19587236	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:19587236G>A	uc004czm.2	-	13	1685	c.1369C>T	c.(1369-1371)CGC>TGC	p.R457C	SH3KBP1_uc011mje.1_Missense_Mutation_p.R196C|SH3KBP1_uc011mjf.1_Missense_Mutation_p.R219C|SH3KBP1_uc004czl.2_Missense_Mutation_p.R420C|SH3KBP1_uc010nfm.2_5'UTR	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	457					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding				0						TCATTGCTGCGGTCCGAGAGA	0.483												
SH3KBP1	30011	broad.mit.edu	37	X	19606847	19606847	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:19606847C>T	uc004czm.2	-	12	1528	c.1212G>A	c.(1210-1212)CGG>CGA	p.R404R	SH3KBP1_uc011mje.1_Silent_p.R143R|SH3KBP1_uc011mjf.1_Silent_p.R166R|SH3KBP1_uc004czl.2_Silent_p.R367R	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	404	Pro-rich.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding				0						TCTTAGGTGGCCGAGGCTTTT	0.532												
MAP7D2	256714	broad.mit.edu	37	X	20082870	20082870	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:20082870G>A	uc004czr.1	-	2	203	c.184C>T	c.(184-186)CGA>TGA	p.R62*	MAP7D2_uc011mji.1_Nonsense_Mutation_p.R18*|MAP7D2_uc010nfo.1_Nonsense_Mutation_p.R62*|MAP7D2_uc011mjj.1_Nonsense_Mutation_p.R62*|MAP7D2_uc004czs.1_Nonsense_Mutation_p.R18*	NM_152780	NP_689993	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	62	Potential.									ovary(2)|breast(1)	3						CTTTCTTCTCGTCTTTCTTTG	0.398												
CNKSR2	22866	broad.mit.edu	37	X	21670629	21670629	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:21670629C>T	uc004czx.1	+	22	3131	c.3095C>T	c.(3094-3096)ACG>ATG	p.T1032M	CNKSR2_uc011mjo.1_Missense_Mutation_p.T1002M	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	1032					regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2						TACATTGAAACGCATGTCTAA	0.378												
ZNF645	158506	broad.mit.edu	37	X	22291373	22291373	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:22291373G>A	uc004dai.1	+	1	314	c.265G>A	c.(265-267)GGA>AGA	p.G89R		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	89	RING-type.					intracellular	zinc ion binding			lung(1)|pancreas(1)	2						TGACAAAGTCGGATATAAAGT	0.403												
ACOT9	23597	broad.mit.edu	37	X	23748967	23748967	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:23748967G>A	uc004dap.2	-	4	447	c.301C>T	c.(301-303)CGA>TGA	p.R101*	ACOT9_uc004dao.2_Nonsense_Mutation_p.R110*|ACOT9_uc004daq.2_Nonsense_Mutation_p.R59*|ACOT9_uc004dar.2_Nonsense_Mutation_p.R41*|ACOT9_uc011mjt.1_RNA|ACOT9_uc004das.2_Nonsense_Mutation_p.R41*|ACOT9_uc004dat.1_Nonsense_Mutation_p.R101*	NM_001033583	NP_001028755	Q9Y305	ACOT9_HUMAN	acyl-Coenzyme A thioesterase 2, mitochondrial	101					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			ovary(2)|pancreas(1)	3						TATTTCTCTCGTAATTCAGGC	0.333												
TAB3	257397	broad.mit.edu	37	X	30870905	30870905	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:30870905G>A	uc004dcj.2	-	7	2363	c.1700C>T	c.(1699-1701)GCG>GTG	p.A567V	TAB3_uc004dck.2_Missense_Mutation_p.A567V|TAB3_uc010ngl.2_Missense_Mutation_p.A567V	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	mitogen-activated protein kinase kinase kinase 7	567					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			ovary(1)	1						CGTAGGGATCGCAGTGGTGCA	0.463												
DMD	1756	broad.mit.edu	37	X	31496309	31496309	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:31496309G>A	uc004dda.1	-	59	9095	c.8851C>T	c.(8851-8853)CGC>TGC	p.R2951C	DMD_uc004dcq.1_Missense_Mutation_p.R222C|DMD_uc004dcr.1_Missense_Mutation_p.R491C|DMD_uc004dcs.1_Missense_Mutation_p.R491C|DMD_uc004dct.1_Missense_Mutation_p.R491C|DMD_uc004dcu.1_Missense_Mutation_p.R491C|DMD_uc004dcv.1_Missense_Mutation_p.R491C|DMD_uc004dcw.2_Missense_Mutation_p.R1607C|DMD_uc004dcx.2_Missense_Mutation_p.R1610C|DMD_uc004dcz.2_Missense_Mutation_p.R2828C|DMD_uc004dcy.1_Missense_Mutation_p.R2947C|DMD_uc004ddb.1_Missense_Mutation_p.R2943C	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2951	Spectrin 22.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCAGCTTGGCGCAGCTTGAGG	0.537												
FAM47B	170062	broad.mit.edu	37	X	34961163	34961163	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:34961163G>A	uc004ddi.1	+	1	233	c.215G>A	c.(214-216)CGC>CAC	p.R72H		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	72										ovary(3)|breast(1)	4						CTTGTTTGTCGCCGTGACGAG	0.527												
FAM47B	170062	broad.mit.edu	37	X	34961839	34961839	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:34961839G>A	uc004ddi.1	+	1	909	c.891G>A	c.(889-891)CCG>CCA	p.P297P		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	297	Pro-rich.									ovary(3)|breast(1)	4						ATCTCCACCCGGAGCCTCCTG	0.632												
LANCL3	347404	broad.mit.edu	37	X	37526606	37526606	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:37526606T>C	uc011mkd.1	+	4	1269	c.967T>C	c.(967-969)TGT>CGT	p.C323R	LANCL3_uc004ddp.1_Missense_Mutation_p.C323R	NM_198511	NP_940913	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3	323							catalytic activity				0						ATGTATTCGGTGTGGGGAACT	0.498												
TSPAN7	7102	broad.mit.edu	37	X	38535094	38535094	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:38535094G>A	uc004deg.3	+	5	646	c.577G>A	c.(577-579)GCC>ACC	p.A193T	TSPAN7_uc011mkj.1_Missense_Mutation_p.A219T|TSPAN7_uc011mkk.1_Missense_Mutation_p.A210T|TSPAN7_uc004deh.2_Missense_Mutation_p.A101T	NM_004615	NP_004606	P41732	TSN7_HUMAN	tetraspanin 7	193	Extracellular (Potential).				interspecies interaction between organisms	integral to plasma membrane				ovary(1)	1						GACTGTGGCCGCCACCAAAGT	0.517												
RBM10	8241	broad.mit.edu	37	X	47045755	47045755	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:47045755G>A	uc004dhf.2	+	23	3015	c.2636G>A	c.(2635-2637)CGC>CAC	p.R879H	RBM10_uc004dhg.2_Missense_Mutation_p.R801H|RBM10_uc004dhh.2_Missense_Mutation_p.R878H|RBM10_uc010nhq.2_Missense_Mutation_p.R802H|RBM10_uc004dhi.2_Missense_Mutation_p.R944H	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	879	G-patch.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						GGCCTGGGCCGCAAGAAGCAG	0.632												
ARAF	369	broad.mit.edu	37	X	47430411	47430411	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:47430411G>T	uc011mlq.1	+	15	1819	c.1686G>T	c.(1684-1686)CAG>CAT	p.Q562H		NM_001654	NP_001645	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene	562	Protein kinase.				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			large_intestine(3)|lung(2)|ovary(1)|skin(1)	7					Adenosine triphosphate(DB00171)	TCTTCCCCCAGGTGGGCTGGG	0.592												
ZNF81	347344	broad.mit.edu	37	X	47774350	47774350	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:47774350A>G	uc010nhy.1	+	6	673	c.305A>G	c.(304-306)CAG>CGG	p.Q102R		NM_007137	NP_009068	P51508	ZNF81_HUMAN	zinc finger protein 81	102						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(315;0.0973)				AAGCCTTCCCAGAGGAGAATT	0.338												
ZNF81	347344	broad.mit.edu	37	X	47774500	47774500	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:47774500G>A	uc010nhy.1	+	6	823	c.455G>A	c.(454-456)CGC>CAC	p.R152H		NM_007137	NP_009068	P51508	ZNF81_HUMAN	zinc finger protein 81	152						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(315;0.0973)				CTTCTGAGTCGCACTACTTTC	0.333												
ZNF630	57232	broad.mit.edu	37	X	47917969	47917969	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:47917969T>C	uc004div.3	-	5	2114	c.1862A>G	c.(1861-1863)CAC>CGC	p.H621R	ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.H497R	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	zinc finger protein 630	621	C2H2-type 13; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|lung(1)	2						CTCCCCAGTGTGTCTTCTCTG	0.438												
MAGIX	79917	broad.mit.edu	37	X	49019249	49019249	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:49019249G>A	uc010nin.1	+	1	69	c.22G>A	c.(22-24)GCC>ACC	p.A8T	MAGIX_uc010nio.1_Missense_Mutation_p.A8T|MAGIX_uc004dmt.2_Missense_Mutation_p.A8T|MAGIX_uc004dmu.2_5'Flank|MAGIX_uc004dmw.2_5'Flank	NM_024859	NP_079135	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked isoform a	8											0						CACAGGGGGCGCCGCGAACCC	0.682												
CLCN5	1184	broad.mit.edu	37	X	49837186	49837186	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:49837186A>G	uc004dos.1	+	3	396	c.148A>G	c.(148-150)AGT>GGT	p.S50G	CLCN5_uc004dor.1_Missense_Mutation_p.S120G|CLCN5_uc004doq.1_Missense_Mutation_p.S120G|CLCN5_uc004dot.1_Missense_Mutation_p.S50G	NM_000084	NP_000075	P51795	CLCN5_HUMAN	chloride channel 5 isoform b	50	Cytoplasmic (By similarity).				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			ovary(2)|lung(1)|central_nervous_system(1)	4	Ovarian(276;0.236)					CTTAATTCACAGTGTGAGTGA	0.363												
HUWE1	10075	broad.mit.edu	37	X	53674333	53674333	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:53674333C>T	uc004dsp.2	-	6	731	c.329G>A	c.(328-330)CGG>CAG	p.R110Q		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	110					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						GTACAGATGCCGGGAAAAGCT	0.438												
TSR2	90121	broad.mit.edu	37	X	54470968	54470968	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:54470968C>T	uc004dte.2	+	5	563	c.561C>T	c.(559-561)GTC>GTT	p.V187V	TSR2_uc004dtf.2_Silent_p.V92V	NM_058163	NP_477511	Q969E8	TSR2_HUMAN	TSR2, 20S rRNA accumulation, homolog	187					rRNA processing		protein binding				0						GGACCATTGTCCGGAGAAAAA	0.483												
GNL3L	54552	broad.mit.edu	37	X	54577458	54577458	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:54577458G>A	uc004dth.1	+	10	977	c.838G>A	c.(838-840)GTG>ATG	p.V280M	GNL3L_uc004dti.2_RNA	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3	280	G.				ribosome biogenesis	nucleolus	GTP binding			ovary(1)	1						CGCATGCAGCGTGGGAGCTGT	0.557												
MAGED2	10916	broad.mit.edu	37	X	54838668	54838668	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:54838668G>A	uc004dtk.1	+	7	1163	c.1069G>A	c.(1069-1071)GCA>ACA	p.A357T	MAGED2_uc004dtl.1_Missense_Mutation_p.A357T|MAGED2_uc004dtm.1_Missense_Mutation_p.A272T|MAGED2_uc010nkc.1_Missense_Mutation_p.A357T|MAGED2_uc004dtn.1_Missense_Mutation_p.A357T|MAGED2_uc004dto.1_Missense_Mutation_p.A331T|SNORA11_uc004dtp.1_5'Flank	NM_177433	NP_803182	Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	357	MAGE.									ovary(2)|breast(1)	3						GCCCACTGATGCAGGCATACT	0.502												
ALAS2	212	broad.mit.edu	37	X	55051231	55051231	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:55051231G>A	uc004dua.3	-	3	362	c.224C>T	c.(223-225)TCG>TTG	p.S75L	ALAS2_uc004dub.3_Missense_Mutation_p.S99L|ALAS2_uc004dud.3_Missense_Mutation_p.S75L	NM_000032	NP_000023	P22557	HEM0_HUMAN	5-aminolevulinate synthase 2 isoform a	75					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(1)	1					Glycine(DB00145)	CTGGAGTTCCGACAGCATGAA	0.468												
RRAGB	10325	broad.mit.edu	37	X	55757835	55757835	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:55757835G>A	uc004dup.2	+	6	1067	c.416G>A	c.(415-417)CGG>CAG	p.R139Q	RRAGB_uc004duq.2_Missense_Mutation_p.R111Q	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B long isoform	139					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding				0						ACTAGCCAACGGGACAACATC	0.398												
FAAH2	158584	broad.mit.edu	37	X	57474979	57474979	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:57474979G>T	uc004dvc.2	+	10	1400	c.1251G>T	c.(1249-1251)AAG>AAT	p.K417N		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	417						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			ovary(3)	3						TGGAAGAAAAGCTCAGATATA	0.348										HNSCC(52;0.14)		
FAM123B	139285	broad.mit.edu	37	X	63410310	63410310	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:63410310G>T	uc004dvo.2	-	2	3130	c.2857C>A	c.(2857-2859)CCA>ACA	p.P953T		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	953	Pro-rich.				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						TAGGCCCCTGGGGGTTCAGTA	0.592												
ZC4H2	55906	broad.mit.edu	37	X	64140060	64140060	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:64140060T>C	uc004dvu.2	-	3	387	c.299A>G	c.(298-300)GAG>GGG	p.E100G	ZC4H2_uc004dvv.2_Missense_Mutation_p.E77G|ZC4H2_uc011mov.1_Missense_Mutation_p.E77G|ZC4H2_uc011mow.1_Missense_Mutation_p.E100G|ZC4H2_uc004dvw.1_Missense_Mutation_p.E100G	NM_018684	NP_061154	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	100	Potential.			E -> K (in Ref. 3; BAB14308).			metal ion binding|protein binding			ovary(1)	1						TGGCTTATACTCATCATGCAG	0.483												
ITGB1BP2	26548	broad.mit.edu	37	X	70523138	70523138	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:70523138C>T	uc004dzr.1	+	5	373	c.344C>T	c.(343-345)CCG>CTG	p.P115L	BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Missense_Mutation_p.P97L	NM_012278	NP_036410	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein 2	115					muscle organ development|signal transduction		SH3 domain binding			ovary(1)	1	Renal(35;0.156)					AAGCTGCTGCCGCTAAATATA	0.488												
ACRC	93953	broad.mit.edu	37	X	70823496	70823496	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:70823496T>C	uc004eae.2	+	8	870	c.369T>C	c.(367-369)ATT>ATC	p.I123I	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	123						nucleus				ovary(3)	3	Renal(35;0.156)					CAATAGTTATTAGTGATGATG	0.438												
KIAA2022	340533	broad.mit.edu	37	X	73961039	73961039	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:73961039G>A	uc004eby.2	-	3	3970	c.3353C>T	c.(3352-3354)ACC>ATC	p.T1118I		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	1118					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						CCGTGAAAGGGTACTGCAGTC	0.448												
MAGT1	84061	broad.mit.edu	37	X	77112905	77112905	+	Silent	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:77112905A>C	uc004fof.2	-	4	638	c.576T>G	c.(574-576)GGT>GGG	p.G192G	MAGT1_uc004fog.3_Intron	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	160					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				upper_aerodigestive_tract(1)	1						CAGCTGAAAAACCCCGCACCT	0.438												
ATP7A	538	broad.mit.edu	37	X	77244200	77244200	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:77244200A>T	uc004ecx.3	+	3	743	c.583A>T	c.(583-585)AAA>TAA	p.K195*	ATP7A_uc004ecw.2_Nonsense_Mutation_p.K195*	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	195	HMA 2.|Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						AAAAATTGGGAAACTGCAAGG	0.398												
BRWD3	254065	broad.mit.edu	37	X	79932589	79932589	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:79932589C>T	uc004edt.2	-	41	5191	c.4928G>A	c.(4927-4929)AGC>AAC	p.S1643N	BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.S1239N|BRWD3_uc004edp.2_Missense_Mutation_p.S1472N|BRWD3_uc004edq.2_Missense_Mutation_p.S1239N|BRWD3_uc010nmj.1_Missense_Mutation_p.S1239N|BRWD3_uc004edr.2_Missense_Mutation_p.S1313N|BRWD3_uc004eds.2_Missense_Mutation_p.S1239N|BRWD3_uc004edu.2_Missense_Mutation_p.S1313N|BRWD3_uc004edv.2_Missense_Mutation_p.S1239N|BRWD3_uc004edw.2_Missense_Mutation_p.S1239N|BRWD3_uc004edx.2_Missense_Mutation_p.S1239N|BRWD3_uc004edy.2_Missense_Mutation_p.S1239N|BRWD3_uc004edz.2_Missense_Mutation_p.S1313N|BRWD3_uc004eea.2_Missense_Mutation_p.S1313N|BRWD3_uc004eeb.2_Missense_Mutation_p.S1239N|uc004edn.1_5'Flank	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1643										ovary(4)	4						TATGAATTTGCTATAATCATG	0.413												
SATL1	340562	broad.mit.edu	37	X	84349197	84349197	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:84349197A>G	uc011mqx.1	-	4	1813	c.1813T>C	c.(1813-1815)TAC>CAC	p.Y605H	SATL1_uc004een.2_Missense_Mutation_p.Y605H	NM_001163541	NP_001157013	Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	418	N-acetyltransferase.						N-acetyltransferase activity			breast(2)	2						CATGAGTCGTATGTAAAGTAG	0.383												
SATL1	340562	broad.mit.edu	37	X	84363029	84363029	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:84363029T>A	uc011mqx.1	-	1	946	c.946A>T	c.(946-948)ATG>TTG	p.M316L	SATL1_uc004een.2_Missense_Mutation_p.M316L	NM_001163541	NP_001157013	Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	129	Gln-rich.						N-acetyltransferase activity			breast(2)	2						GGTTGTTTCATGCCAGGTTGG	0.488												
ZNF711	7552	broad.mit.edu	37	X	84510747	84510747	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:84510747A>G	uc004eeo.2	+	4	909	c.562A>G	c.(562-564)ACC>GCC	p.T188A	ZNF711_uc004eep.2_Missense_Mutation_p.T188A|ZNF711_uc004eeq.2_Missense_Mutation_p.T188A	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	zinc finger protein 711	188					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			ovary(3)|skin(1)	4						TACTATAAAAACCGAAGATGA	0.378												
DRP2	1821	broad.mit.edu	37	X	100505457	100505457	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:100505457G>A	uc004egz.2	+	15	1955	c.1586G>A	c.(1585-1587)CGC>CAC	p.R529H	DRP2_uc011mrh.1_Missense_Mutation_p.R451H	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	529					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2						TGTGACCAGCGCCACCTTGGT	0.612												
ESX1	80712	broad.mit.edu	37	X	103499192	103499192	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:103499192T>C	uc004ely.2	-	2	207	c.149A>G	c.(148-150)AAA>AGA	p.K50R		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	extraembryonic, spermatogenesis, homeobox	50					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GTACTCAGGTTTGGACCGTGT	0.597												
NRK	203447	broad.mit.edu	37	X	105142690	105142690	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:105142690C>T	uc004emd.2	+	8	997	c.694C>T	c.(694-696)CGC>TGC	p.R232C	NRK_uc010npc.1_Translation_Start_Site	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	232	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						GGACCCAAGACGCTCCTATGA	0.393										HNSCC(51;0.14)		
IRS4	8471	broad.mit.edu	37	X	107976465	107976465	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:107976465C>T	uc004eoc.2	-	1	3143	c.3110G>A	c.(3109-3111)CGC>CAC	p.R1037H		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	1037						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						AGCATCATAGCGAATGGCACT	0.473												
IRS4	8471	broad.mit.edu	37	X	107977589	107977589	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:107977589T>C	uc004eoc.2	-	1	2019	c.1986A>G	c.(1984-1986)GGA>GGG	p.G662G		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	662						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						CTTTCGTGGCTCCTCTGTCAA	0.517												
HTR2C	3358	broad.mit.edu	37	X	114141351	114141351	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:114141351C>T	uc004epu.1	+	6	1478	c.750C>T	c.(748-750)CAC>CAT	p.H250H	HTR2C_uc010nqc.1_Silent_p.H250H|HTR2C_uc004epv.1_Missense_Mutation_p.R219W	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	250	Cytoplasmic (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TGTTACTGCACGGCCACACCG	0.512												
WDR44	54521	broad.mit.edu	37	X	117480540	117480540	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:117480540T>G	uc004eqn.2	+	1	499	c.74T>G	c.(73-75)GTG>GGG	p.V25G	WDR44_uc004eqo.2_Missense_Mutation_p.V25G|WDR44_uc011mtr.1_Missense_Mutation_p.V25G	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	25	Binding activity.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						GGCTACCCCGTGGGGTAAGTG	0.627												
DOCK11	139818	broad.mit.edu	37	X	117712549	117712549	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:117712549T>C	uc004eqp.2	+	13	1514	c.1451T>C	c.(1450-1452)GTA>GCA	p.V484A	DOCK11_uc004eqq.2_Missense_Mutation_p.V250A	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	484					blood coagulation	cytosol	GTP binding			ovary(3)	3						ATTGAAAAGGTACTACAGGGA	0.348												
IL13RA1	3597	broad.mit.edu	37	X	117895240	117895240	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:117895240T>C	uc004eqs.2	+	6	859	c.816T>C	c.(814-816)CAT>CAC	p.H272H	IL13RA1_uc004eqr.1_Silent_p.H272H|IL13RA1_uc004eqt.1_Silent_p.H272H	NM_001560	NP_001551	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1 precursor	272	Extracellular (Potential).					interleukin-13 receptor complex	cytokine receptor activity				0						CTGAGACACATAATGTTTTCT	0.289												
CXorf56	63932	broad.mit.edu	37	X	118676477	118676477	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:118676477C>A	uc004erk.1	-	5	550	c.504G>T	c.(502-504)GAG>GAT	p.E168D	CXorf56_uc004erj.1_Missense_Mutation_p.E119D|CXorf56_uc011mtu.1_Missense_Mutation_p.E154D	NM_022101	NP_071384	Q9H5V9	CX056_HUMAN	hypothetical protein LOC63932	168							protein binding				0						CAGCCTCAATCTCCTCTTCCT	0.502												
UBE2A	7319	broad.mit.edu	37	X	118717213	118717213	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:118717213T>C	uc004erl.2	+	6	630	c.454T>C	c.(454-456)TGT>CGT	p.C152R	UBE2A_uc004erm.2_Missense_Mutation_p.C122R|UBE2A_uc004ern.2_RNA|UBE2A_uc004ero.2_RNA|UBE2A_uc004erp.2_Missense_Mutation_p.C77R	NM_003336	NP_003327	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A isoform 1	152					histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity				0						CTGGCGTGATTGTTGACCCCG	0.413								Direct_reversal_of_damage|Rad6_pathway				
MCTS1	28985	broad.mit.edu	37	X	119742168	119742168	+	Silent	SNP	T	T	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:119742168T>G	uc004esx.2	+	4	699	c.351T>G	c.(349-351)ACT>ACG	p.T117T	MCTS1_uc011mub.1_Silent_p.T118T	NM_014060	NP_054779	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1 isoform 1	117	PUA.				cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding				0						CAGGCTTAACTTCTCCTGGAG	0.413												
ODZ1	10178	broad.mit.edu	37	X	123517968	123517968	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:123517968C>T	uc004euj.2	-	29	6856	c.6792G>A	c.(6790-6792)GGG>GGA	p.G2264G	ODZ1_uc011muj.1_Silent_p.G2270G|ODZ1_uc010nqy.2_Silent_p.G2271G	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	2264	YD 21.|Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						GAAGGTGCTGCCCTAGGCTGG	0.478												
SMARCA1	6594	broad.mit.edu	37	X	128599865	128599865	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:128599865T>C	uc004eun.3	-	22	2886	c.2773A>G	c.(2773-2775)AGA>GGA	p.R925G	SMARCA1_uc004eup.3_Missense_Mutation_p.R913G|SMARCA1_uc011muk.1_Missense_Mutation_p.R925G|SMARCA1_uc011mul.1_Missense_Mutation_p.R913G	NM_003069	NP_003060	P28370	SMCA1_HUMAN	SWI/SNF-related matrix-associated	925					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			ovary(3)|skin(1)	4						CGTTGAATTCTTGCTTCTCCA	0.333												
SMARCA1	6594	broad.mit.edu	37	X	128621096	128621096	+	Missense_Mutation	SNP	G	G	A	rs140388140		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:128621096G>A	uc004eun.3	-	17	2229	c.2116C>T	c.(2116-2118)CGC>TGC	p.R706C	SMARCA1_uc004eup.3_Missense_Mutation_p.R694C|SMARCA1_uc011muk.1_Missense_Mutation_p.R706C|SMARCA1_uc011mul.1_Missense_Mutation_p.R694C	NM_003069	NP_003060	P28370	SMCA1_HUMAN	SWI/SNF-related matrix-associated	706					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			ovary(3)|skin(1)	4						TTTTGCAGGCGTTCATTCATC	0.318												
ZDHHC9	51114	broad.mit.edu	37	X	128948693	128948693	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:128948693A>G	uc004euv.2	-	5	935	c.566T>C	c.(565-567)CTT>CCT	p.L189P	ZDHHC9_uc004euw.2_Missense_Mutation_p.L189P|ZDHHC9_uc004eux.1_Missense_Mutation_p.L189P|ZDHHC9_uc004euy.1_Missense_Mutation_p.L116P	NM_001008222	NP_001008223	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC domain containing 9	189	Helical; (Potential).|DHHC-type.					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1						GGAGAGAGAAAGGATGAAGAG	0.532												
ZDHHC9	51114	broad.mit.edu	37	X	128957767	128957767	+	Silent	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:128957767A>G	uc004euv.2	-	4	744	c.375T>C	c.(373-375)CGT>CGC	p.R125R	ZDHHC9_uc004euw.2_Silent_p.R125R|ZDHHC9_uc004eux.1_Silent_p.R125R|ZDHHC9_uc004euy.1_Silent_p.R52R	NM_001008222	NP_001008223	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC domain containing 9	125	Cytoplasmic (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1						AATTCTTGATACGAGGCGGTG	0.488												
BCORL1	63035	broad.mit.edu	37	X	129149510	129149510	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:129149510C>A	uc004evb.1	+	4	2876	c.2762C>A	c.(2761-2763)CCT>CAT	p.P921H	BCORL1_uc010nrd.1_Missense_Mutation_p.P823H	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	921					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						CAAGTCAATCCTGTCCTCTTG	0.552												
BCORL1	63035	broad.mit.edu	37	X	129162713	129162713	+	Silent	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:129162713T>C	uc004evb.1	+	8	4296	c.4182T>C	c.(4180-4182)GAT>GAC	p.D1394D	BCORL1_uc010nrd.1_Silent_p.D1166D|BCORL1_uc004evc.1_Silent_p.D156D	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1394					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						GGATCTCGGATTCACCAAACG	0.502											OREG0019921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
IGSF1	3547	broad.mit.edu	37	X	130410036	130410036	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:130410036A>T	uc004ewd.2	-	15	3033	c.2795T>A	c.(2794-2796)GTT>GAT	p.V932D	IGSF1_uc004ewe.3_Missense_Mutation_p.V926D|IGSF1_uc004ewf.2_Missense_Mutation_p.V912D	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	932	Extracellular (Potential).|Ig-like C2-type 9.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						CTCTGCTCCAACAGTGTGGAG	0.512												
FAM122C	159091	broad.mit.edu	37	X	133941656	133941656	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:133941656T>C	uc004exz.1	+	1	433	c.28T>C	c.(28-30)TTC>CTC	p.F10L	FAM122C_uc010nru.1_Missense_Mutation_p.F46L|FAM122C_uc004exw.2_Missense_Mutation_p.F10L|FAM122C_uc004exx.2_RNA|FAM122C_uc011mvq.1_RNA|FAM122C_uc004exy.1_Missense_Mutation_p.F10L	NM_138819	NP_620174	Q6P4D5	F222C_HUMAN	hypothetical protein LOC159091	10											0	Acute lymphoblastic leukemia(192;0.000127)					GAAACTAGGTTTCAAGTCGCT	0.517												
CXorf48	54967	broad.mit.edu	37	X	134303672	134303672	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:134303672A>G	uc004eyk.1	-	2	781	c.125T>C	c.(124-126)GTT>GCT	p.V42A	CXorf48_uc004eyl.1_Missense_Mutation_p.V42A	NM_001031705	NP_001026875	Q8WUE5	CX048_HUMAN	hypothetical protein LOC54967 isoform 1	42											0	Acute lymphoblastic leukemia(192;0.000127)					ACTTGTGACAACTCCCTGCAC	0.403												
ZNF449	203523	broad.mit.edu	37	X	134494771	134494771	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:134494771A>C	uc004eys.2	+	5	1492	c.1327A>C	c.(1327-1329)AGT>CGT	p.S443R	ZNF449_uc004eyt.2_Missense_Mutation_p.S323R|ZNF449_uc004eyu.2_Missense_Mutation_p.S249R	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	443	C2H2-type 5.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					TTGTGGGAAAAGTTTTAGTCG	0.368												
FHL1	2273	broad.mit.edu	37	X	135290680	135290680	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:135290680A>G	uc004ezo.2	+	5	668	c.568A>G	c.(568-570)ACC>GCC	p.T190A	FHL1_uc010nrz.2_Missense_Mutation_p.T190A|FHL1_uc004ezm.2_RNA|FHL1_uc004ezl.2_Missense_Mutation_p.T190A|FHL1_uc004ezq.2_Intron|FHL1_uc011mvy.1_Missense_Mutation_p.T190A|FHL1_uc011mvz.1_Missense_Mutation_p.T190A|FHL1_uc004ezn.2_Missense_Mutation_p.T190A|FHL1_uc011mwa.1_Missense_Mutation_p.T219A|FHL1_uc011mwb.1_RNA|FHL1_uc004ezp.2_Missense_Mutation_p.T206A|FHL1_uc004ezr.2_Silent_p.L8L	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN	four and a half LIM domains 1 isoform 1	190	LIM zinc-binding 3.				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(192;0.000127)					TGTGTGTGTTACCTGCTCTAA	0.527												
MAP7D3	79649	broad.mit.edu	37	X	135313712	135313712	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:135313712G>A	uc004ezt.2	-	8	1495	c.1404C>T	c.(1402-1404)GAC>GAT	p.D468D	MAP7D3_uc004ezs.2_Silent_p.D432D|MAP7D3_uc011mwc.1_Silent_p.D450D|MAP7D3_uc010nsa.1_Silent_p.D426D	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	468						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					CCTTTGGAGCGTCTCTCGCTT	0.423												
VGLL1	51442	broad.mit.edu	37	X	135630774	135630774	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:135630774C>T	uc004ezy.2	+	3	411	c.241C>T	c.(241-243)CGT>TGT	p.R81C	MIR934_hsa-mir-934|MI0005756_5'Flank	NM_016267	NP_057351	Q99990	VGLL1_HUMAN	vestigial like 1	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity				0	Acute lymphoblastic leukemia(192;0.000127)					AAATCAGTGGCGTTACTCGTC	0.423												
MCF2	4168	broad.mit.edu	37	X	138698521	138698521	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:138698521C>T	uc004fau.2	-	9	1405	c.1111G>A	c.(1111-1113)GAA>AAA	p.E371K	MCF2_uc004fav.2_Missense_Mutation_p.E371K|MCF2_uc011mwl.1_Missense_Mutation_p.E332K|MCF2_uc010nsh.1_Missense_Mutation_p.E371K|MCF2_uc011mwm.1_Missense_Mutation_p.E332K|MCF2_uc011mwn.1_Missense_Mutation_p.E516K|MCF2_uc004faw.2_Missense_Mutation_p.E431K|MCF2_uc011mwo.1_Missense_Mutation_p.E431K	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	371					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)					AGAGCCATTTCAAGAAAATTT	0.338												
ATP11C	286410	broad.mit.edu	37	X	138865330	138865330	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:138865330T>C	uc004faz.2	-	17	1871	c.1772A>G	c.(1771-1773)AAT>AGT	p.N591S	ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.N591S	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	591	Cytoplasmic (Potential).				ATP biosynthetic process	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(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)					CACCATTGCATTACGTTCCAC	0.368												
SLITRK2	84631	broad.mit.edu	37	X	144905424	144905424	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:144905424C>T	uc004fcd.2	+	5	2471	c.1481C>T	c.(1480-1482)ACG>ATG	p.T494M	SLITRK2_uc010nsp.2_Missense_Mutation_p.T494M|SLITRK2_uc010nso.2_Missense_Mutation_p.T494M|SLITRK2_uc011mwq.1_Missense_Mutation_p.T494M|SLITRK2_uc011mwr.1_Missense_Mutation_p.T494M|SLITRK2_uc011mws.1_Missense_Mutation_p.T494M|SLITRK2_uc004fcg.2_Missense_Mutation_p.T494M|SLITRK2_uc011mwt.1_Missense_Mutation_p.T494M	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	494	Extracellular (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGGGGGGACGGCCCTAACC	0.463												
SLITRK2	84631	broad.mit.edu	37	X	144905693	144905693	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:144905693T>A	uc004fcd.2	+	5	2740	c.1750T>A	c.(1750-1752)TTG>ATG	p.L584M	SLITRK2_uc010nsp.2_Missense_Mutation_p.L584M|SLITRK2_uc010nso.2_Missense_Mutation_p.L584M|SLITRK2_uc011mwq.1_Missense_Mutation_p.L584M|SLITRK2_uc011mwr.1_Missense_Mutation_p.L584M|SLITRK2_uc011mws.1_Missense_Mutation_p.L584M|SLITRK2_uc004fcg.2_Missense_Mutation_p.L584M|SLITRK2_uc011mwt.1_Missense_Mutation_p.L584M	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	584	Extracellular (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCCCAAACTTGTCAGATGG	0.468												
MAGEA8	4107	broad.mit.edu	37	X	149013371	149013371	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:149013371C>T	uc004fdw.1	+	3	540	c.325C>T	c.(325-327)CGG>TGG	p.R109W		NM_005364	NP_005355	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	109											0	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCCTGTTCCGGGAAGCACT	0.542												
MTMR1	8776	broad.mit.edu	37	X	149931153	149931153	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:149931153G>A	uc004fei.2	+	15	2084	c.1949G>A	c.(1948-1950)CGG>CAG	p.R650Q	MTMR1_uc011mya.1_Missense_Mutation_p.R556Q|MTMR1_uc004feh.1_Missense_Mutation_p.R658Q|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_Intron	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	myotubularin-related protein 1	650						plasma membrane	protein tyrosine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					TCATCTGAGCGGGGCTCCTCG	0.677												
PASD1	139135	broad.mit.edu	37	X	150839574	150839574	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:150839574A>C	uc004fev.3	+	12	1468	c.1136A>C	c.(1135-1137)AAG>ACG	p.K379T		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	379	Potential.					nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CTGATGAAGAAGTTGAAGGAG	0.448												
MAGEA10	4109	broad.mit.edu	37	X	151304043	151304043	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:151304043T>C	uc004ffk.2	-	5	458	c.50A>G	c.(49-51)CAA>CGA	p.Q17R	MAGEA10_uc004ffl.2_Missense_Mutation_p.Q17R	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	17											0	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTTGGGATTGAAGATCTTC	0.532												
NSDHL	50814	broad.mit.edu	37	X	152031181	152031181	+	Silent	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:152031181C>T	uc004fgt.1	+	6	717	c.456C>T	c.(454-456)GGC>GGT	p.G152G	NSDHL_uc004fgs.1_Silent_p.G152G	NM_001129765	NP_001123237	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	152					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity				0	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	TCTTTGAGGGCGTCGATATCA	0.413												
ZNF275	10838	broad.mit.edu	37	X	152613218	152613218	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:152613218C>T	uc004fhg.1	+	5	1154	c.977C>T	c.(976-978)CCG>CTG	p.P326L	ZNF275_uc011mym.1_Missense_Mutation_p.R359C|ZNF275_uc011myn.1_Missense_Mutation_p.R296C			A6NFS0	A6NFS0_HUMAN	SubName: Full=cDNA FLJ16723 fis, clone UTERU3004418, highly similar to Zinc finger protein 275; SubName: Full=Putative uncharacterized protein ZNF275;	326						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAAGGCCTTCCGTGGGCCCTC	0.667												
ATP2B3	492	broad.mit.edu	37	X	152813346	152813346	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:152813346G>A	uc004fht.1	+	7	1138	c.1012G>A	c.(1012-1014)GAG>AAG	p.E338K	ATP2B3_uc004fhs.1_Missense_Mutation_p.E338K	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	338	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAAGAGCGCGGAGGGTGGGGA	0.587												
ARHGAP4	393	broad.mit.edu	37	X	153184481	153184481	+	Silent	SNP	G	G	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:153184481G>T	uc004fjk.1	-	7	879	c.837C>A	c.(835-837)GCC>GCA	p.A279A	ARHGAP4_uc011mzf.1_Silent_p.A256A|ARHGAP4_uc004fjl.1_Silent_p.A319A|ARHGAP4_uc010nup.1_RNA	NM_001666	NP_001657	P98171	RHG04_HUMAN	Rho GTPase activating protein 4 isoform 2	279					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCCCCAGGGCCAGGTGGA	0.662												
ARHGAP4	393	broad.mit.edu	37	X	153184643	153184643	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:153184643T>C	uc004fjk.1	-	6	818	c.776A>G	c.(775-777)AAC>AGC	p.N259S	ARHGAP4_uc011mzf.1_Missense_Mutation_p.N236S|ARHGAP4_uc004fjl.1_Missense_Mutation_p.N299S|ARHGAP4_uc010nup.1_RNA	NM_001666	NP_001657	P98171	RHG04_HUMAN	Rho GTPase activating protein 4 isoform 2	259					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGTAGTAGTTACTGACAGC	0.577												
HCFC1	3054	broad.mit.edu	37	X	153219884	153219884	+	Silent	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:153219884G>A	uc004fjp.2	-	17	4494	c.3966C>T	c.(3964-3966)TGC>TGT	p.C1322C		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	1322	HCF repeat 6.				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			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)					CGTGGGTCTCGCATGGCGGGT	0.687												
IRAK1	3654	broad.mit.edu	37	X	153278860	153278860	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:153278860G>A	uc004fjs.1	-	12	1643	c.1564C>T	c.(1564-1566)CAG>TAG	p.Q522*	IRAK1_uc004fjr.1_Intron|IRAK1_uc004fjt.1_Nonsense_Mutation_p.Q443*|IRAK1_uc010nur.2_Intron	NM_001569	NP_001560	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	522					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			lung(5)|ovary(2)|breast(1)|central_nervous_system(1)	9	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCACTGCCTGCAGCTTCTCT	0.657												
TKTL1	8277	broad.mit.edu	37	X	153524229	153524229	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:153524229C>T	uc004fkg.2	+	1	203	c.17C>T	c.(16-18)GCG>GTG	p.A6V	TEX28_uc004fke.2_5'Flank|TEX28_uc004fkf.2_5'Flank|TEX28_uc010nut.1_5'Flank|TKTL1_uc011mzl.1_Missense_Mutation_p.A6V|TKTL1_uc011mzm.1_Missense_Mutation_p.A6V	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	6					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-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)					GATGCTGAGGCGAGGGCTGAG	0.612												
ATP6AP1	537	broad.mit.edu	37	X	153662013	153662013	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:153662013A>G	uc004flf.1	+	6	692	c.631A>G	c.(631-633)AAG>GAG	p.K211E	ATP6AP1_uc004flg.1_RNA|ATP6AP1_uc004flh.1_Missense_Mutation_p.K171E	NM_001183	NP_001174	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory	211					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			ovary(3)|breast(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					GAGCACACTCAAGTCCGAAGA	0.607												
AKNAD1	254268	broad.mit.edu	37	1	109369927	109369927	+	Splice_Site	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:109369926_109369926TA>T	uc001dwa.3	-	11	2108	c.1839_splice	c.e11-1	p.W613_splice	AKNAD1_uc010ovb.2_Splice_Site_p.W320_splice|AKNAD1_uc001dwb.3_Splice_Site	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	613										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTTGCTTCCTAAAAAAAGGT	0.378												
UBE2Q1	55585	broad.mit.edu	37	1	154524458	154524459	+	Splice_Site	INS	-	-	GA			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:154524457_154524458T>TGA	uc001fff.1	-	9	1058	c.967_splice	c.e9-1	p.D323_splice		NM_017582	NP_060052	Q7Z7E8	UB2Q1_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2Q family member 1 (UBE2Q1), mRNA.	323							ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAAGTTATCCTGAGAGAGAGAG	0.574												
PREPL	9581	broad.mit.edu	37	2	44550553	44550553	+	Splice_Site	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:44550552_44550552TA>T	uc002ruf.3	-	11	2706	c.1747_splice	c.e11-1	p.A583_splice	PREPL_uc002rug.3_Splice_Site_p.A517_splice|PREPL_uc002ruh.3_Splice_Site_p.A521_splice|PREPL_uc010fax.3_Splice_Site_p.A583_splice|PREPL_uc002rui.4_Splice_Site_p.A494_splice|PREPL_uc002ruj.2_Splice_Site_p.A494_splice|PREPL_uc002ruk.2_Splice_Site_p.A583_splice	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA.	583					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GAAAGGTGCCTAAAAAAAAGG	0.333												
PSME4	23198	broad.mit.edu	37	2	54167140	54167140	+	Splice_Site	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348												
USP34	9736	broad.mit.edu	37	2	61577527	61577527	+	Splice_Site	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:61577526_61577526TA>T	uc002sbe.3	-	12	1400	c.1378_splice	c.e12-1	p.T460_splice		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	460					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTACAGTGTCTAAAAAAAAGA	0.338												
NEK10	152110	broad.mit.edu	37	3	27157621	27157622	+	Splice_Site	INS	-	-	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:27157620_27157621T>TA	uc010hfk.3	-	15	1527	c.1298_splice	c.e15-1	p.G433_splice	NEK10_uc010hfj.3_Splice_Site_p.G376_splice			Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	1121							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTGGTAAACCTAAAAAAGATAA	0.347												
PBRM1	55193	broad.mit.edu	37	3	52676064	52676066	+	Splice_Site	DEL	ACA	ACA	-	rs11719685	by1000genomes	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:52676063_52676065TACA>T	uc003des.2	-	10	1008	c.996_splice	c.e10-1	p.R332_splice	PBRM1_uc003dex.2_Splice_Site|PBRM1_uc003deq.2_Splice_Site_p.R332_splice|PBRM1_uc003der.2_Splice_Site_p.S300_splice|PBRM1_uc003det.2_Splice_Site_p.R332_splice|PBRM1_uc003deu.2_Splice_Site_p.R332_splice|PBRM1_uc003dev.2_Splice_Site|PBRM1_uc003dew.2_Splice_Site_p.R332_splice|PBRM1_uc010hmk.1_Splice_Site_p.R332_splice|PBRM1_uc003dey.2_Splice_Site_p.R332_splice|PBRM1_uc003dez.1_Splice_Site_p.R332_splice|PBRM1_uc003dfb.1_Splice_Site_p.R230_splice	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	332					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTTTTATTACTACAAAAAAAAAA	0.340			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""							
ANKRD17	26057	broad.mit.edu	37	4	73981636	73981636	+	Splice_Site	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:73981635_73981635TA>T	uc003hgp.3	-	23	4306	c.4189_splice	c.e23-1	p.G1397_splice	ANKRD17_uc003hgo.3_Splice_Site_p.G1284_splice|ANKRD17_uc003hgq.3_Splice_Site_p.G1146_splice|ANKRD17_uc003hgr.3_Splice_Site_p.G1396_splice|ANKRD17_uc011cbd.1_Splice_Site_p.G962_splice	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	1397					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CACATGACCCTAAAAAATAGA	0.358												
PLRG1	5356	broad.mit.edu	37	4	155468219	155468220	+	Splice_Site	INS	-	-	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:155468218_155468219T>TA	uc003iny.3	-	4	385	c.260_splice	c.e4-1	p.G87_splice	PLRG1_uc003inz.3_Splice_Site_p.G87_splice|PLRG1_uc011cil.2_Splice_Site	NM_002669	NP_002660	O43660	PLRG1_HUMAN	Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA.	87						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CTTCTTGTCCTAAAAAAACACA	0.307												
HLA-G	3135	broad.mit.edu	37	6	29857106	29857107	+	Splice_Site	INS	-	-	C	rs70987606		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:29857105_29857106A>AC	uc021ytv.1	+	4	629	c.620_splice	c.e4-1	p.D207_splice	HLA-G_uc021ytw.1_Splice_Site|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Splice_Site|HLA-G_uc010jro.3_3'UTR|HLA-J_uc021ytx.1_Splice_Site			P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.	207	Alpha-3.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TTCCCGTCAGACCCCCCCCAAG	0.579												
CROT	54677	broad.mit.edu	37	7	86991046	86991046	+	Splice_Site	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:86991045_86991045GA>G	uc003uiu.3	+	7	752	c.507_splice	c.e7-1	p.K169_splice	CROT_uc003uit.3_Splice_Site_p.K141_splice	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	141					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TTTTAATAGAGAAAAAGTGCC	0.323												
TRPA1	8989	broad.mit.edu	37	8	72977796	72977796	+	Splice_Site	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:72977795_72977795TA>T	uc003xza.3	-	4	620	c.445_splice	c.e4-1	p.V149_splice		NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	149						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AAGCAAGACCTAAAAAAAGGG	0.368												
TMEM55A	55529	broad.mit.edu	37	8	92020972	92020972	+	Splice_Site	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:92020971_92020971AT>A	uc003yes.3	-	5	765	c.539_splice	c.e5+1	p.I180_splice		NM_018710	NP_061180	Q8N4L2	TM55A_HUMAN	Homo sapiens transmembrane protein 55A (TMEM55A), mRNA.	180						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	p.I180fs*6(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			GGGAACTTACATTTTTTTGCA	0.318												
UBR5	51366	broad.mit.edu	37	8	103299795	103299795	+	Splice_Site	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:103299794_103299794TA>T	uc003ykr.2	-	37	5281	c.4826_splice	c.e37-1	p.G1609_splice	UBR5_uc003yks.2_Splice_Site_p.G1609_splice	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	1609					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TATCACTCCCTAAAAAATACA	0.403												
CPSF1	29894	broad.mit.edu	37	8	145626214	145626214	+	Splice_Site	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:145626213_145626213TG>T	uc003zcj.3	-	7	615	c.540_splice	c.e7-1	p.G180_splice	CPSF1_uc003zck.1_Splice_Site_p.G102_splice|CPSF1_uc011lle.1_Splice_Site_p.G180_splice|CPSF1_uc022bco.1_5'Flank|CPSF1_uc011llf.1_Splice_Site_p.G180_splice	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	180					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GACCTCTGCCTGGGGGGCCAG	0.662												
C9orf11	54586	broad.mit.edu	37	9	27296739	27296739	+	Splice_Site	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:27296738_27296738TA>T	uc003zql.3	-	2	161	c.77_splice	c.e2-1	p.A26_splice	C9orf11_uc011lnq.2_Splice_Site_p.A26_splice|C9orf11_uc003zqm.3_Splice_Site_p.A26_splice	NM_020641	NP_065692	Q9NQ60	AFAF_HUMAN	Homo sapiens chromosome 9 open reading frame 11 (C9orf11), transcript variant 1, mRNA.	26						acrosomal membrane|integral to membrane				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	17				OV - Ovarian serous cystadenocarcinoma(39;7.39e-08)|Lung(218;1.26e-05)|LUSC - Lung squamous cell carcinoma(38;0.000106)		TAGGCAATGCTAAAAAAAAGT	0.323												
UBAP2	55833	broad.mit.edu	37	9	33944640	33944640	+	Splice_Site	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:33944639_33944639TA>T	uc003ztq.1	-	14	1384	c.1271_splice	c.e14-1	p.D424_splice	UBAP2_uc011loc.1_Splice_Site_p.D333_splice|UBAP2_uc011lod.1_Splice_Site_p.D157_splice|UBAP2_uc011loe.1_Splice_Site_p.D179_splice|UBAP2_uc011lof.1_Splice_Site_p.D349_splice|UBAP2_uc011log.1_Splice_Site_p.D370_splice|UBAP2_uc003ztr.2_Splice_Site_p.D296_splice|UBAP2_uc003zts.3_Splice_Site_p.D57_splice	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA.	424										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ATTTGAAGTCTAAAAAAAGTA	0.438												
C9orf80	58493	broad.mit.edu	37	9	115456516	115456516	+	Splice_Site	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:115456515_115456515TA>T	uc004bgg.3	-	3	203	c.26_splice	c.e3-1	p.G9_splice	C9orf80_uc010muk.3_Splice_Site	NM_021218	NP_067041	Q9NRY2	SOSSC_HUMAN	Homo sapiens chromosome 9 open reading frame 80 (C9orf80), mRNA.	9					DNA repair|response to ionizing radiation	SOSS complex	protein binding	p.?(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	4						TTTGAAAACCTAAAAAAAAGA	0.348												
RAB14	51552	broad.mit.edu	37	9	123954450	123954450	+	Splice_Site	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:123954449_123954449AT>A	uc004blc.3	-	3	562	c.106_splice	c.e3+1	p.F36_splice		NM_016322	NP_057406	P61106	RAB14_HUMAN	Homo sapiens RAB14, member RAS oncogene family (RAB14), mRNA.	36					Golgi to endosome transport|embryo development|fibroblast growth factor receptor signaling pathway|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	Golgi membrane|Golgi stack|cytosol|early endosome membrane|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TTGAACTTACATTTTTTTTCT	0.294												
IPO7	10527	broad.mit.edu	37	11	9450087	9450088	+	Splice_Site	INS	-	-	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:9450086_9450087G>GA	uc001mho.3	+	13	1478	c.1336_splice	c.e13-1	p.K446_splice	SNORA23_uc001mhp.1_5'Flank	NM_006391	NP_006382	O95373	IPO7_HUMAN	Homo sapiens importin 7 (IPO7), mRNA.	446					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	Ran GTPase binding|protein transporter activity|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TATATTTACAGAAAAAGATCTA	0.297												
SF3B2	10992	broad.mit.edu	37	11	65836146	65836147	+	Splice_Site	INS	-	-	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:65836145_65836146C>CA	uc001ogy.1	+	22	2657	c.2617_splice	c.e22-1	p.Q873_splice	PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.2_5'Flank	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	873					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCCTATACAGCAAAAAAAACGG	0.515											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PGM2L1	283209	broad.mit.edu	37	11	74082034	74082034	+	Splice_Site	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:74082033_74082033TA>T	uc001ovb.1	-	4	683	c.387_splice	c.e4-1	p.R129_splice		NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN	Homo sapiens phosphoglucomutase 2-like 1 (PGM2L1), mRNA.	129					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					TTAGCAAGCCTAAAAAAAGAG	0.343												
ATG2B	55102	broad.mit.edu	37	14	96794874	96794874	+	Splice_Site	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:96794873_96794873CT>C	uc001yfi.3	-	14	2340	c.1975_splice	c.e14-1	p.G659_splice		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	659										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CTTGATTACCCTTTTAAAAAA	0.294												
GANC	2595	broad.mit.edu	37	15	42632113	42632114	+	Splice_Site	INS	-	-	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:42632112_42632113T>TA	uc001zpi.3	+	17	2401	c.2087_splice	c.e17+2	p.R696_splice		NM_198141	NP_937784	Q8TET4	GANC_HUMAN	Homo sapiens glucosidase, alpha; neutral C (GANC), mRNA.	696					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		TGTCATGAGGTAAAAAAGCTTC	0.450												
PHKB	5257	broad.mit.edu	37	16	47614272	47614272	+	Splice_Site	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:47614271_47614271TA>T	uc002eev.4	+	8	826	c.774_splice	c.e8+2	p.Q258_splice	PHKB_uc002eeu.4_Splice_Site_p.Q251_splice	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	258					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GGCAACCAGGTAAAAAATAAG	0.323												
SHMT1	6470	broad.mit.edu	37	17	18259317	18259317	+	Splice_Site	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:18259316_18259316TA>T	uc002gta.3	-	2	172	c.-18_splice	c.e2-1		SHMT1_uc002gtb.3_Splice_Site|SHMT1_uc010vxt.2_Splice_Site|SHMT1_uc002gtd.1_Splice_Site|SHMT1_uc010vxu.1_Splice_Site	NM_004169	NP_004160	P34896	GLYC_HUMAN	Homo sapiens serine hydroxymethyltransferase 1 (soluble) (SHMT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.						L-serine catabolic process|carnitine biosynthetic process|folic acid metabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CGAAGCTGCCTAAAAAAATGG	0.408												
KIAA0100	9703	broad.mit.edu	37	17	26966334	26966334	+	Splice_Site	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:26966333_26966333CT>C	uc002hbu.3	-	11	1332	c.1229_splice	c.e11+1	p.R410_splice	KIAA0100_uc002hbv.3_Frame_Shift_Del_p.R410fs	NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	410						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCAGACTGACCTTTTTTTCCT	0.433												
THOC1	9984	broad.mit.edu	37	18	215507	215507	+	Splice_Site	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:215506_215506TA>T	uc002kkj.4	-	20	1643	c.1603_splice	c.e20-1	p.P535_splice	THOC1_uc002kkh.4_Splice_Site_p.P159_splice	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	Homo sapiens THO complex 1 (THOC1), mRNA.	535					RNA splicing|apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|signal transduction|transcription, DNA-dependent	THO complex part of transcription export complex|cytoplasm|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				AGAAGGAGGCTAAAAATGAGA	0.368												
SPIRE1	56907	broad.mit.edu	37	18	12453140	12453140	+	Splice_Site	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:12453139_12453139TA>T	uc002kre.3	-	14	1824	c.1777_splice	c.e14-1	p.L593_splice	SPIRE1_uc002krc.3_Splice_Site|SPIRE1_uc010wzw.2_Splice_Site_p.L459_splice|SPIRE1_uc010wzx.2_Splice_Site_p.L382_splice|SPIRE1_uc010wzy.2_Splice_Site_p.L579_splice	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	Homo sapiens spire homolog 1 (Drosophila) (SPIRE1), transcript variant 1, mRNA.	593						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						AAAGCAGAGCTAAAAAATACA	0.338												
ZNF43	7594	broad.mit.edu	37	19	22002026	22002026	+	Splice_Site	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACA	0.383												
AP2A1	160	broad.mit.edu	37	19	50304647	50304647	+	Splice_Site	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:50304646_50304646GC>G	uc002ppn.3	+	13	1765	c.1554_splice	c.e13-1	p.S518_splice	AP2A1_uc010enj.1_Intron|AP2A1_uc002ppo.3_Splice_Site_p.S518_splice|AP2A1_uc002ppp.1_5'Flank	NM_014203	NP_055018	O95782	AP2A1_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 1 subunit (AP2A1), transcript variant 1, mRNA.	518					Golgi to endosome transport|axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CCTGCACACAGCCCCCCAGTG	0.642												
CASK	8573	broad.mit.edu	37	X	41519817	41519819	+	Splice_Site	DEL	GAG	GAG	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:41519816_41519818TGAG>T	uc004dfk.4	-	3	280	c.154_splice	c.e3-1	p.M52_splice	CASK_uc004dfl.4_Splice_Site_p.M237_splice|CASK_uc004dfm.4_Splice_Site_p.M237_splice|CASK_uc004dfn.4_Splice_Site_p.M237_splice	NM_003688	NP_003679	O14936	CSKP_HUMAN	Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family) (CASK), transcript variant 1, mRNA.	237	Protein kinase.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						TGGATTCATCTGAGGAGGAGGAA	0.379												
ACSL4	2182	broad.mit.edu	37	X	108902743	108902743	+	Splice_Site	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:108902742_108902742TA>T	uc004eoi.2	-	16	2326	c.1821_splice	c.e16-1	p.S607_splice	ACSL4_uc004eoj.2_Splice_Site_p.S566_splice|ACSL4_uc004eok.2_Splice_Site_p.S566_splice	NM_022977	NP_004449	O60488	ACSL4_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 4 (ACSL4), transcript variant 2, mRNA.	607					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	GACTGATCACTAAAAAAACAG	0.318												
FNBP1L	54874	broad.mit.edu	37	1	93995246	93995246	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:93995246delA	uc001dpw.2	+	6	443	c.443delA	c.(442-444)GAAfs	p.E148fs	FNBP1L_uc001dpv.2_Frame_Shift_Del_p.E148fs|FNBP1L_uc010otk.1_5'UTR	NM_001024948	NP_001020119	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like isoform 1	148	Induction of membrane tubulation (By similarity).|Potential.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding				0		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		AGAGAGGCAGAAAAGGCACAA	0.303												
GJD4	219770	broad.mit.edu	37	10	35897554	35897554	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:35897554delA	uc001iyy.1	+	2	1271	c.1113delA	c.(1111-1113)TGAfs	p.*371fs		NM_153368	NP_699199	Q96KN9	CXD4_HUMAN	connexin40.1	371					cell communication	connexon complex|integral to membrane				large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						AGTGGGTGTGAAAAAAACAGC	0.433												
PTEN	5728	broad.mit.edu	37	10	89717770	89717770	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:89717770delA	uc001kfb.2	+	8	1826	c.795delA	c.(793-795)CTAfs	p.L265fs		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	265	C2 tensin-type.			KMLKKDK->AAGAADA: Reduces the growth suppression activity and cells show anchorage-independent growth. Reduces binding to phospholipid membranes in vitro. Phosphatase activity towards PtdIns(3,4,5)P3 is not affected.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.K267fs*9(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M264fs*8(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.D268fs*30(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACAAGATGCTAAAAAAGGTTT	0.348		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
TUBGCP2	10844	broad.mit.edu	37	10	135093332	135093332	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:135093332delG	uc001lmg.1	-	18	3004	c.2647delC	c.(2647-2649)CAAfs	p.Q883fs	ADAM8_uc010quz.1_5'Flank|ADAM8_uc009ybi.2_5'Flank|ADAM8_uc010qva.1_5'Flank|ADAM8_uc009ybj.1_5'Flank|TUBGCP2_uc001lmf.1_Frame_Shift_Del_p.Q476fs|TUBGCP2_uc010qvc.1_Frame_Shift_Del_p.Q911fs|TUBGCP2_uc009ybk.1_Frame_Shift_Del_p.Q906fs|TUBGCP2_uc010qvd.1_Frame_Shift_Del_p.Q753fs|TUBGCP2_uc001lmh.1_RNA	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	883					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		ACAGGCACTTGGGGGGTGGCC	0.657												
PDDC1	347862	broad.mit.edu	37	11	770899	770899	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:770899delA	uc001lrc.2	-	8	686	c.661delT	c.(661-663)TGAfs	p.*221fs	PDDC1_uc001lrb.2_5'Flank|PDDC1_uc010qwm.1_Frame_Shift_Del_p.*171fs|PDDC1_uc001lrd.2_Intron|PDDC1_uc001lrf.1_3'UTR|PDDC1_uc001lrg.1_RNA|PDDC1_uc009ycg.2_3'UTR|PDDC1_uc010qwn.1_RNA|PDDC1_uc010qwo.1_RNA|PDDC1_uc010qwp.1_3'UTR|PDDC1_uc010qwq.1_3'UTR|PDDC1_uc010qwr.1_3'UTR|PDDC1_uc010qws.1_3'UTR	NM_182612	NP_872418	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	221						extracellular region					0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGCAGGTTCATTTCCTGCAG	0.627												
STIM1	6786	broad.mit.edu	37	11	4091365	4091367	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:4091365_4091367delGAA	uc001lyv.2	+	6	1291_1293	c.723_725delGAA	c.(721-726)ATGAAG>ATG	p.K243del	STIM1_uc009yef.2_In_Frame_Del_p.K243del|STIM1_uc009yeg.2_In_Frame_Del_p.K70del	NM_003156	NP_003147	Q13586	STIM1_HUMAN	stromal interaction molecule 1 precursor	243	Cytoplasmic (Potential).				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			pancreas(1)	1		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		AGGAGCACATGAAGAAGATGATG	0.517												
E2F8	79733	broad.mit.edu	37	11	19259637	19259637	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:19259637delT	uc001mpm.2	-	3	580	c.58delA	c.(58-60)ACAfs	p.T20fs	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Frame_Shift_Del_p.T20fs|E2F8_uc001mpo.1_Frame_Shift_Del_p.T20fs	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	20					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						TTCAGAGGTGTTTTCATTAGT	0.408												
TBC1D10C	374403	broad.mit.edu	37	11	67176565	67176565	+	Frame_Shift_Del	DEL	C	C	-	rs147560025		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:67176565delC	uc001ola.2	+	9	983	c.954delC	c.(952-954)ATCfs	p.I318fs	PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.2_Frame_Shift_Del_p.P254fs|TBC1D10C_uc001olb.2_RNA	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	318						intracellular	Rab GTPase activator activity				0			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TTCGAGCCATCCCCCCCGCGC	0.687												
DYNC2H1	79659	broad.mit.edu	37	11	103048288	103048288	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:103048288delA	uc001pho.2	+	38	6022	c.5878delA	c.(5878-5880)AAAfs	p.K1960fs	DYNC2H1_uc001phn.1_Frame_Shift_Del_p.K1960fs|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1960	AAA 2 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTACTAGATCAAAAAGGCTTT	0.318												
KIAA0528	9847	broad.mit.edu	37	12	22625276	22625276	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:22625276delA	uc001rfq.2	-	18	2341	c.2113delT	c.(2113-2115)TATfs	p.Y705fs	KIAA0528_uc010sir.1_Frame_Shift_Del_p.Y520fs|KIAA0528_uc010sis.1_Frame_Shift_Del_p.Y705fs|KIAA0528_uc010sit.1_Frame_Shift_Del_p.Y707fs|KIAA0528_uc010siu.1_Frame_Shift_Del_p.Y705fs|KIAA0528_uc001rfr.2_Frame_Shift_Del_p.Y696fs	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	hypothetical protein LOC9847	705							protein binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						TTACAACTATAAAAGCCTGTC	0.234												
CSNK1A1L	122011	broad.mit.edu	37	13	37679145	37679145	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:37679145delT	uc001uwm.1	-	1	657	c.249delA	c.(247-249)AAAfs	p.K83fs		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	83	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)	1		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CATTGTTGTCTTTTTCCTGAC	0.468												
STXBP6	29091	broad.mit.edu	37	14	25325269	25325269	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:25325269delA	uc001wpu.2	-	4	1039	c.324delT	c.(322-324)TTTfs	p.F108fs	STXBP6_uc001wpv.2_Frame_Shift_Del_p.F108fs|STXBP6_uc001wpw.2_Frame_Shift_Del_p.F108fs|STXBP6_uc001wpx.1_RNA	NM_014178	NP_054897	Q8NFX7	STXB6_HUMAN	amisyn	108					vesicle-mediated transport	cytoplasm|integral to membrane					0				GBM - Glioblastoma multiforme(265;0.0296)		CCCACTGGTCAAAAGCATTTT	0.423												
MIPOL1	145282	broad.mit.edu	37	14	37754647	37754647	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:37754647delA	uc001wuc.2	+	8	1121	c.618delA	c.(616-618)CTAfs	p.L206fs	MIPOL1_uc010amr.2_Intron|MIPOL1_uc001wub.3_Frame_Shift_Del_p.L175fs|MIPOL1_uc001wud.2_Frame_Shift_Del_p.L206fs|MIPOL1_uc010ams.2_Frame_Shift_Del_p.L206fs|MIPOL1_uc001wue.2_Frame_Shift_Del_p.L175fs|MIPOL1_uc010amt.2_Frame_Shift_Del_p.L25fs	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	206	Potential.									ovary(1)|central_nervous_system(1)	2	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AAATGTCTCTAAAAGTGTATG	0.368												
MIA2	117153	broad.mit.edu	37	14	39703369	39703370	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:39703369_39703370delAA	uc001wux.2	+	1	245_246	c.51_52delAA	c.(49-54)ACAAAGfs	p.T17fs	MIA2_uc010amy.1_5'UTR	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	17_18						extracellular region				ovary(1)|breast(1)	2	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TTTCTCTGACAAAGTGTCTGGA	0.426												
CASC5	57082	broad.mit.edu	37	15	40917332	40917333	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:40917332_40917333delAA	uc010bbs.1	+	11	5109_5110	c.4948_4949delAA	c.(4948-4950)AAAfs	p.K1650fs	CASC5_uc010ucq.1_Frame_Shift_Del_p.K1474fs|CASC5_uc001zme.2_Frame_Shift_Del_p.K1624fs|CASC5_uc010bbt.1_Frame_Shift_Del_p.K1624fs	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	1650					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)		TGAGGAAAATAAAAAGTCTCAT	0.342												
RNF111	54778	broad.mit.edu	37	15	59376343	59376343	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:59376343delC	uc002afv.2	+	9	2592	c.2313delC	c.(2311-2313)CGCfs	p.R771fs	RNF111_uc002afs.2_Frame_Shift_Del_p.R771fs|RNF111_uc002aft.2_Frame_Shift_Del_p.R780fs|RNF111_uc002afu.2_Frame_Shift_Del_p.R770fs|RNF111_uc002afw.2_Frame_Shift_Del_p.R780fs|RNF111_uc002afx.2_Frame_Shift_Del_p.R297fs|RNF111_uc002afy.2_5'Flank	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	ring finger protein 111	771	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2				all cancers(107;0.194)		CACATGAACGCCCCCCACCCC	0.443												
PLCG2	5336	broad.mit.edu	37	16	81934374	81934376	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:81934374_81934376delATC	uc002fgt.2	+	14	1503_1505	c.1351_1353delATC	c.(1351-1353)ATCdel	p.I453del	PLCG2_uc010chg.1_In_Frame_Del_p.I453del	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	453	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						GCGGGAGAAGATCATCATCAAGG	0.626												
CPD	1362	broad.mit.edu	37	17	28706682	28706683	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:28706682_28706683insC	uc002hfb.1	+	1	699_700	c.684_685insC	c.(682-687)GAACCCfs	p.E228fs	CPD_uc010wbo.1_5'Flank|CPD_uc010wbp.1_5'Flank	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	228_229	Extracellular (Potential).|Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						GCACCGGCGAACCCCCCGCCCT	0.703												
FASN	2194	broad.mit.edu	37	17	80043423	80043423	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:80043423delG	uc002kdu.2	-	23	4174	c.4057delC	c.(4057-4059)CTCfs	p.L1353fs	FASN_uc002kdw.1_Frame_Shift_Del_p.L569fs	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	1353				LGDI -> SGH (in Ref. 2; AAA73576).	energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	ATGTCCCCGAGGGGGTGCCCC	0.706												
POLRMT	5442	broad.mit.edu	37	19	632888	632888	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:632888delG	uc002lpf.1	-	2	195	c.139delC	c.(139-141)CAGfs	p.Q47fs		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	47					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTTGCTCCTGGGGGCTGGCG	0.751												
MAST1	22983	broad.mit.edu	37	19	12985060	12985060	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:12985060delG	uc002mvm.2	+	26	4217	c.4089delG	c.(4087-4089)CCGfs	p.P1363fs		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	1363					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						AGGAATCCCCGGGGGGCGCCG	0.736												
PPP1R13L	10848	broad.mit.edu	37	19	45898859	45898859	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:45898859delG	uc002pbn.2	-	7	1266	c.1189delC	c.(1189-1191)CTCfs	p.L397fs	PPP1R13L_uc002pbm.2_5'Flank|PPP1R13L_uc002pbo.2_Frame_Shift_Del_p.L397fs|PPP1R13L_uc002pbp.2_Frame_Shift_Del_p.L397fs	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	397	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CGGGTGAAGAGGGGGGACCCA	0.453												
MGAT5	4249	broad.mit.edu	37	2	135012020	135012020	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:135012020delT	uc002ttv.1	+	1	191	c.46delT	c.(46-48)TTTfs	p.F16fs		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	16	Helical; Signal-anchor for type II membrane protein; (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GAAGCTGGGCTTTTTCCTGGT	0.512												
NBEAL1	65065	broad.mit.edu	37	2	204037548	204037549	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:204037548_204037549insA	uc002uzt.3	+	40	6541_6542	c.6208_6209insA	c.(6208-6210)GAAfs	p.E2070fs	NBEAL1_uc002uzs.3_Frame_Shift_Ins_p.E780fs	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1 isoform 3	2070	BEACH.						binding			ovary(1)|skin(1)	2						GGTAGTTAATGAAAAAAACGCC	0.332												
PIKFYVE	200576	broad.mit.edu	37	2	209169732	209169732	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:209169732delA	uc002vcz.2	+	12	1789	c.1631delA	c.(1630-1632)CAAfs	p.Q544fs	PIKFYVE_uc010fun.1_Frame_Shift_Del_p.Q225fs|PIKFYVE_uc002vcy.1_Intron|PIKFYVE_uc002vcv.2_Frame_Shift_Del_p.Q447fs|PIKFYVE_uc002vcw.2_Frame_Shift_Del_p.Q544fs|PIKFYVE_uc002vcx.2_Frame_Shift_Del_p.Q458fs	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	544					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						CCTGCTGACCAAAAAGGTAGG	0.547												
ACR	49	broad.mit.edu	37	22	51183154	51183154	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:51183154delG	uc003bnh.3	+	5	797	c.785delG	c.(784-786)TGGfs	p.W262fs		NM_001097	NP_001088	P10323	ACRO_HUMAN	acrosin precursor	262	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding				0		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		ATCACAAGCTGGGGGGTAGGC	0.587												
SDAD1	55153	broad.mit.edu	37	4	76891521	76891521	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:76891521delT	uc003hje.3	-	10	943	c.824delA	c.(823-825)AAGfs	p.K275fs	SDAD1_uc003hjf.3_Frame_Shift_Del_p.K178fs|SDAD1_uc011cbr.1_Frame_Shift_Del_p.K238fs	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	275	Potential.				protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			ovary(1)	1			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTTTTTCTTCTTTTTTTGTTT	0.373												
IRF2	3660	broad.mit.edu	37	4	185339758	185339758	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:185339758delT	uc003iwf.3	-	4	492	c.292delA	c.(292-294)AGCfs	p.S98fs		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	98	IRF tryptophan pentad repeat.				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TTCTTTATGCTTTTATCCTTG	0.418												
IRX2	153572	broad.mit.edu	37	5	2749792	2749793	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:2749792_2749793delTT	uc003jda.2	-	2	600_601	c.358_359delAA	c.(358-360)AACfs	p.N120fs	C5orf38_uc003jdc.2_5'Flank|C5orf38_uc011cmg.1_5'Flank|C5orf38_uc011cmh.1_5'Flank|C5orf38_uc011cmi.1_5'Flank|C5orf38_uc011cmj.1_5'Flank|IRX2_uc003jdb.2_Frame_Shift_Del_p.N120fs	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	120	Homeobox; TALE-type.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		CCGCGTGGCGTTCTTGCGGTAC	0.658												
SRD5A1	6715	broad.mit.edu	37	5	6633704	6633704	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:6633704delG	uc003jdw.2	+	1	205	c.15delG	c.(13-15)ACGfs	p.T5fs	NSUN2_uc003jdu.2_5'Flank|NSUN2_uc011cmk.1_5'Flank|NSUN2_uc003jdv.2_5'Flank|SRD5A1_uc011cml.1_RNA|SRD5A1_uc011cmm.1_Frame_Shift_Del_p.R14fs	NM_001047	NP_001038	P18405	S5A1_HUMAN	steroid-5-alpha-reductase 1	5					androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity				0					Dutasteride(DB01126)|Finasteride(DB01216)	CAACGGCGACGGGGGTGGCGG	0.736												
PKD2L2	27039	broad.mit.edu	37	5	137243584	137243584	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:137243584delT	uc003lby.2	+	7	1185	c.1129delT	c.(1129-1131)TTTfs	p.F377fs	PKD2L2_uc003lbw.1_Frame_Shift_Del_p.F377fs|PKD2L2_uc003lbx.2_Frame_Shift_Del_p.F377fs|PKD2L2_uc011cyi.1_5'UTR	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	377	Helical; (Potential).					integral to membrane	calcium ion binding|ion channel activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TATTACCATCTTTTTTGCATG	0.269												
OR5V1	81696	broad.mit.edu	37	6	29323702	29323702	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:29323702delT	uc011dlo.1	-	1	353	c.271delA	c.(271-273)AGCfs	p.S91fs		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V,	91	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|kidney(1)	4						TAAGAAATGCTTTTTTTCTTT	0.418												
BAT2	7916	broad.mit.edu	37	6	31602641	31602641	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:31602641delC	uc003nvb.3	+	21	5296	c.5047delC	c.(5047-5049)CCCfs	p.P1683fs	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Frame_Shift_Del_p.P1683fs	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1683	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						AGCAGAGGGACCCCCCAAGAG	0.627												
DST	667	broad.mit.edu	37	6	56434717	56434717	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:56434717delT	uc003pdf.2	-	48	7486	c.7458delA	c.(7456-7458)AAAfs	p.K2486fs	DST_uc003pcz.3_Frame_Shift_Del_p.K2308fs|DST_uc011dxj.1_Frame_Shift_Del_p.K2337fs|DST_uc011dxk.1_Frame_Shift_Del_p.K2348fs|DST_uc003pcy.3_Frame_Shift_Del_p.K1982fs	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	4394					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CAATGGGAACTTTTTTTGTTG	0.328												
COL12A1	1303	broad.mit.edu	37	6	75840613	75840614	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:75840613_75840614delAC	uc003phs.2	-	36	6187_6188	c.6021_6022delGT	c.(6019-6024)CTGTACfs	p.L2007fs	COL12A1_uc003pht.2_Frame_Shift_Del_p.L843fs	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2007_2008	Fibronectin type-III 15.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CCATCCGAGTACAGAGCCACAA	0.554												
HTR1B	3351	broad.mit.edu	37	6	78172873	78172873	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:78172873delG	uc003pil.1	-	1	248	c.248delC	c.(247-249)CCGfs	p.P83fs		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	83	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity				0		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GTAGTTAGCCGGGGTGTGCAG	0.582												
KIAA1967	57805	broad.mit.edu	37	8	22477167	22477169	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:22477167_22477169delAGA	uc003xch.2	+	21	2881_2883	c.2744_2746delAGA	c.(2743-2748)GAGAAG>GAG	p.K916del	KIAA1967_uc003xci.2_In_Frame_Del_p.K916del|KIAA1967_uc003xcj.1_3'UTR	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	916					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		AGCTGGGTGGAGAAGGAGGAGCC	0.626												
HTATSF1	27336	broad.mit.edu	37	X	135593401	135593402	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:135593401_135593402insA	uc004ezw.2	+	10	1919_1920	c.1497_1498insA	c.(1495-1500)CCTAAAfs	p.P499fs	HTATSF1_uc004ezx.2_Frame_Shift_Ins_p.P499fs	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	499_500	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					AGGATAGTCCTAAAAAAGAGTC	0.441												
RERE	473	broad.mit.edu	37	1	8420009	8420010	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:8420008_8420009GCA>G	uc001ape.3	-	19	4243_4244	c.3433_3434TGC>C	c.(3433-3435)gccfs	p.A1145fs	RERE_uc001apf.3_Frame_Shift_Del_p.A1145fs|RERE_uc001apd.3_Frame_Shift_Del_p.A591fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1145					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTCTGTCCGGGCACACGAGTTG	0.619												
SPEN	23013	broad.mit.edu	37	1	16255783	16255783	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:16255782_16255782CA>C	uc001axk.1	+	10	3251	c.3047_3047CA>C	c.(3046-3048)tcafs	p.S1016fs	SPEN_uc010obp.1_Frame_Shift_Del_p.S975fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1016					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGCGTGCTTTCAAAAAAGCAG	0.453												
CLCNKA	1187	broad.mit.edu	37	1	16377465	16377465	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:16377464_16377464AC>A	uc001axx.4	+	11	1284	c.1148_1148AC>A	c.(1147-1149)gacfs	p.D383fs	CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_Frame_Shift_Del_p.D214fs|CLCNKA_uc001axy.4_Frame_Shift_Del_p.D214fs	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	383					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GAGGAGCTCGACCCCCAGCAC	0.627												
EPHA2	1969	broad.mit.edu	37	1	16462199	16462199	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:16462198_16462198CG>C	uc001aya.2	-	5	1535	c.1380_1380CG>G	c.(1378-1380)ccgfs	p.P460fs	EPHA2_uc010oca.2_Frame_Shift_Del_p.P460fs	NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	460	Fibronectin type-III 2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	p.P460fs*33(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TCTGCTGCGGCGGGGGGATGC	0.662												
RAP1GAP	5909	broad.mit.edu	37	1	21936094	21936094	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:21936093_21936093AG>A	uc001bev.3	-	11	1064	c.1046_1046CT>T	c.(1045-1047)ctcfs	p.L349fs	RAP1GAP_uc001bew.3_Frame_Shift_Del_p.L413fs|RAP1GAP_uc001bey.3_Frame_Shift_Del_p.L349fs|RAP1GAP_uc001bex.3_Frame_Shift_Del_p.L349fs	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.	349	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GGGGTCCGGGAGGGGGGGTCC	0.637												
TCEB3	6924	broad.mit.edu	37	1	24078022	24078024	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:24078021_24078023TGAA>T	uc001bho.3	+	3	1064_1066	c.1004_1006TGAA>T	c.(1003-1008)ctgaag>cTag	p.K338del		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	Homo sapiens transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) (TCEB3), mRNA.	338					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	p.K312delK(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GGCAGCAGCCTGAAGAAGAAGTG	0.527											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SRRM1	10250	broad.mit.edu	37	1	24995729	24995729	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:24995728_24995728TC>T	uc001bjm.3	+	13	2078	c.1854_1854TC>T	c.(1852-1854)cctfs	p.P618fs	SRRM1_uc010oel.2_Frame_Shift_Del_p.P630fs|SRRM1_uc009vrh.1_Frame_Shift_Del_p.P591fs|SRRM1_uc009vri.1_Frame_Shift_Del_p.P547fs	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	618	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CTTCACCTCCTCCCCCTCCTA	0.552												
TMEM57	55219	broad.mit.edu	37	1	25775375	25775376	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:25775374_25775375C>CT	uc001bkk.3	+	2	500_501	c.298_299C>CT	c.(298-300)cttfs	p.L100fs	TMEM57_uc009vru.3_Frame_Shift_Ins_p.L100fs|TMEM57_uc009vrv.3_Intron|TMEM57_uc009vrt.2_Non-coding_Transcript	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	Homo sapiens transmembrane protein 57 (TMEM57), mRNA.	100						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CATACAGTGGCTTTTTTTTGCT	0.342												
ARID1A	8289	broad.mit.edu	37	1	27105931	27105932	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:27105930_27105931T>TG	uc001bmv.1	+	19	5914_5915	c.5541_5542T>TG	c.(5539-5544)ggtgggfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Ins_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Ins_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Ins_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Ins_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					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	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(6)|p.G1847fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		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)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
DMBX1	127343	broad.mit.edu	37	1	46972783	46972783	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:46972782_46972782GC>G	uc001cpx.3	+	0	115	c.100_100GC>G	c.(100-102)gccfs	p.A34fs	DMBX1_uc001cpw.3_Frame_Shift_Del_p.A34fs	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	34	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GGCCCAGCATGCCCCCGACTA	0.632												
PODN	127435	broad.mit.edu	37	1	53543377	53543377	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:53543376_53543376TC>T	uc001cuv.3	+	6	1070	c.902_902TC>T	c.(901-903)atcfs	p.I301fs	PODN_uc010onr.2_Frame_Shift_Del_p.I282fs|PODN_uc010ons.2_Frame_Shift_Del_p.I159fs|PODN_uc001cuw.3_Frame_Shift_Del_p.I282fs	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	253					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTGGAGAAGATCCCCCCGGGG	0.617												
FAM151A	338094	broad.mit.edu	37	1	55081757	55081757	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:55081756_55081756TG>T	uc001cxn.3	-	2	484	c.352_352CA>A	c.(352-354)actfs	p.T118fs	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGT	0.592												
SGIP1	84251	broad.mit.edu	37	1	67147618	67147618	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:67147617_67147617AT>A	uc001dcr.3	+	14	1097	c.880_880AT>A	c.(880-882)attfs	p.I294fs	SGIP1_uc010opd.2_Intron|SGIP1_uc001dcs.3_Intron|SGIP1_uc001dct.3_Intron|SGIP1_uc009wat.3_Frame_Shift_Del_p.I61fs	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	294	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CTTGGACAGCATTTTTGGGCC	0.408												
GNG12	55970	broad.mit.edu	37	1	68171151	68171151	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:68171150_68171150GT>G	uc001dea.2	-	3	408	c.203_203AC>C	c.(202-204)actfs	p.T68fs		NM_018841	NP_061329	Q9UBI6	GBG12_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 12 (GNG12), mRNA.	68					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			lung(3)	3						GATGATGCAAGTTTTTTTATC	0.433												
CLCA4	22802	broad.mit.edu	37	1	87025666	87025666	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:87025665_87025665AT>A	uc009wcs.3	+	1	254	c.210_210AT>A	c.(208-210)agafs	p.R70fs	CLCA4_uc009wct.3_5'UTR|CLCA4_uc009wcu.3_5'UTR	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	70						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CAGAAAAAAGATTTTTTTTCA	0.338												
LRRC8B	23507	broad.mit.edu	37	1	90048567	90048567	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:90048566_90048566GT>G	uc001dni.3	+	6	864	c.357_357GT>G	c.(355-357)aagfs	p.K119fs	LRRC8B_uc001dnh.3_Frame_Shift_Del_p.K119fs|LRRC8B_uc001dnj.3_Frame_Shift_Del_p.K119fs	NM_001134476	NP_056165	Q6P9F7	LRC8B_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA.	119						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GGTTTGCAAAGTTTTTCCCCT	0.512												
HFM1	164045	broad.mit.edu	37	1	91781980	91781981	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:91781979_91781980A>AT	uc001doa.4	-	25	2965_2966	c.2866_2867T>AT	c.(2866-2868)atafs	p.I956fs	HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Frame_Shift_Ins_p.I635fs|HFM1_uc001dob.4_Frame_Shift_Ins_p.I144fs|HFM1_uc010osv.1_Frame_Shift_Ins_p.I640fs	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	956	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TGTCTCTTCTATTTTTTTAAAG	0.292												
EVI5	7813	broad.mit.edu	37	1	93169000	93169000	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:93168999_93168999TA>T	uc010otf.2	-	3	659	c.649_649TA>A	c.(649-651)aagfs	p.K217fs	EVI5_uc001dox.3_Frame_Shift_Del_p.K217fs	NM_005665	NP_005656	O60447	EVI5_HUMAN	Homo sapiens ecotropic viral integration site 5 (EVI5), mRNA.	217	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	Rab GTPase activator activity|protein binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TCTTTTTCCTTAAAAAAGTTG	0.333												
GABPB2	126626	broad.mit.edu	37	1	151076042	151076042	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:151076041_151076041AC>A	uc001ewr.2	+	5	957	c.626_626AC>A	c.(625-627)gacfs	p.D209fs	GABPB2_uc010pcp.1_Frame_Shift_Del_p.D225fs|GABPB2_uc001ewt.2_Intron	NM_144618	NP_653219	Q8TAK5	GABP2_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 2 (GABPB2), mRNA.	209					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		GAAATAGGTGACCCCCATGCC	0.428												
LYSMD1	388695	broad.mit.edu	37	1	151134433	151134433	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:151134432_151134432CT>C	uc001ewy.3	-	1	961	c.325_325AG>G	c.(325-327)gtafs	p.V109fs	SCNM1_uc021oyk.1_Intron|LYSMD1_uc010pcr.2_Frame_Shift_Del_p.V61fs	NM_212551	NP_997716	Q96S90	LYSM1_HUMAN	Homo sapiens LysM, putative peptidoglycan-binding, domain containing 1 (LYSMD1), transcript variant 1, mRNA.	109					cell wall macromolecule catabolic process					endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTGGGTGTACTTTTTCCTCT	0.498												
UBE2Q1	55585	broad.mit.edu	37	1	154524458	154524459	+	Splice_Site	INS	-	-	GA			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:154524457_154524458T>TGA	uc001fff.1	-	9	1058	c.967_splice	c.e9-1	p.D323_splice		NM_017582	NP_060052	Q7Z7E8	UB2Q1_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2Q family member 1 (UBE2Q1), mRNA.	323							ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAAGTTATCCTGAGAGAGAGAG	0.574												
AIM2	9447	broad.mit.edu	37	1	159033322	159033322	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:159033321_159033321AT>A	uc001ftj.1	-	4	1205	c.960_960AT>T	c.(958-960)aatfs	p.N320fs		NM_004833	NP_004824	O14862	AIM2_HUMAN	Homo sapiens absent in melanoma 2 (AIM2), mRNA.	320	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					GTTTTTCTCCATTTTTTGACA	0.408												
MPZL1	9019	broad.mit.edu	37	1	167741720	167741721	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:167741719_167741720G>GA	uc001geo.3	+	2	668_669	c.466_467G>GA	c.(466-468)gaafs	p.E156fs	MPZL1_uc001gen.4_Frame_Shift_Ins_p.E156fs|MPZL1_uc001gep.3_Frame_Shift_Ins_p.E156fs|MPZL1_uc001geq.3_Intron|MPZL1_uc009wvh.3_Intron	NM_003953	NP_003944	O95297	MPZL1_HUMAN	Homo sapiens myelin protein zero-like 1 (MPZL1), transcript variant 1, mRNA.	156					cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					CTATGTCGTAGAAAAAGGTACT	0.406												
RGL1	23179	broad.mit.edu	37	1	183881395	183881395	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:183881394_183881394CA>C	uc001gqm.3	+	15	2307	c.1846_1846CA>C	c.(1846-1848)caafs	p.Q616fs	RGL1_uc010pof.1_Frame_Shift_Del_p.Q386fs|RGL1_uc010pog.2_Frame_Shift_Del_p.Q579fs|RGL1_uc010poh.2_Frame_Shift_Del_p.Q579fs|RGL1_uc001gqo.3_Frame_Shift_Del_p.Q581fs|RGL1_uc010poi.2_Frame_Shift_Del_p.Q552fs	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	581					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TGATGAGCCTCAAAAAAAGGT	0.488												
RGS21	431704	broad.mit.edu	37	1	192335195	192335196	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:192335194_192335195T>TA	uc001gsh.3	+	4	573_574	c.399_400T>TA	c.(397-402)tataaafs	p.Y133fs		NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN	Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA.	133	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						CAGAGATTTATAAAAAACTGGT	0.366												
RGS2	5997	broad.mit.edu	37	1	192780194	192780194	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:192780193_192780193CA>C	uc001gsl.3	+	3	390	c.357_357CA>C	c.(355-357)ttcfs	p.F119fs		NM_002923	NP_002914	P41220	RGS2_HUMAN	Homo sapiens regulator of G-protein signaling 2, 24kDa (RGS2), mRNA.	119	RGS.				cell cycle|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of cardiac muscle hypertrophy|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	GTPase activator activity|calmodulin binding|signal transducer activity	p.F119L(2)		large_intestine(3)|lung(1)|urinary_tract(1)	5						GTGAAGACTTCAAAAAAACCA	0.398												
RPS6KC1	26750	broad.mit.edu	37	1	213277903	213277903	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:213277902_213277902CT>C	uc010ptr.2	+	3	528	c.369_369CT>C	c.(367-369)gacfs	p.D123fs	RPS6KC1_uc001hkd.3_Frame_Shift_Del_p.D111fs|RPS6KC1_uc010pts.2_5'UTR|RPS6KC1_uc010ptt.2_5'UTR|RPS6KC1_uc010ptu.2_5'UTR|RPS6KC1_uc010ptv.2_5'UTR|RPS6KC1_uc001hke.3_5'UTR	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA.	123	PX.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AGCTTGAAGACTTTTTCAAGG	0.308												
KCTD3	51133	broad.mit.edu	37	1	215747171	215747172	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:215747170_215747171C>CT	uc001hks.3	+	1	419_420	c.125_126C>CT	c.(124-126)tctfs	p.S42fs	KCTD3_uc001hkt.3_Frame_Shift_Ins_p.S42fs|KCTD3_uc010pub.2_5'UTR	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 3 (KCTD3), mRNA.	42	BTB.					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ATTCCAGATTCTTTTTTTTCCA	0.228												
C1orf131	128061	broad.mit.edu	37	1	231362513	231362513	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:231362512_231362512CT>C	uc001hul.3	-	4	703	c.666_666AG>G	c.(664-666)aagfs	p.K222fs	C1orf131_uc001hum.3_Frame_Shift_Del_p.K221fs|C1orf131_uc001hun.1_Frame_Shift_Del_p.K222fs|C1orf131_uc010pwd.1_Frame_Shift_Del_p.K221fs	NM_152379	NP_689592	Q8NDD1	CA131_HUMAN	Homo sapiens chromosome 1 open reading frame 131 (C1orf131), mRNA.	222	Lys-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				CCTTTGCTGCCTTTTTTTCTT	0.373												
ERO1LB	56605	broad.mit.edu	37	1	236384137	236384137	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:236384136_236384136CA>C	uc001hxt.3	-	14	1595	c.1339_1339TG>G	c.(1339-1341)ggafs	p.G447fs		NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	Homo sapiens ERO1-like beta (S. cerevisiae) (ERO1LB), mRNA.	447					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TCTTACCTTCCAAAAGCATTT	0.343												
ZNF124	7678	broad.mit.edu	37	1	247319909	247319909	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr1:247319908_247319908GT>G	uc001ick.3	-	3	1155	c.1016_1016AC>C	c.(1015-1017)actfs	p.T339fs	ZNF124_uc001ici.3_Intron|ZNF124_uc001icj.1_Frame_Shift_Del_p.T277fs	NM_003431	NP_003422	Q15973	ZN124_HUMAN	Homo sapiens zinc finger protein 124 (ZNF124), transcript variant 1, mRNA.	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TCCAGTATGAGTTTTTTTATG	0.368												
SLC30A3	7781	broad.mit.edu	37	2	27479380	27479380	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:27479379_27479379CG>C	uc002rjk.3	-	6	1079	c.893_893CG>G	c.(892-894)cgcfs	p.R298fs	SLC30A3_uc002rjj.3_Frame_Shift_Del_p.A144fs|SLC30A3_uc010ylh.2_Frame_Shift_Del_p.R293fs	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 3 (SLC30A3), mRNA.	298					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	p.R298H(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCACATTGCGGGGGGTACC	0.607												
KRTCAP3	200634	broad.mit.edu	37	2	27666007	27666009	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:27666006_27666008CCTT>C	uc002rks.3	+	3	386_388	c.339_341CCTT>C	c.(337-342)ctcctt>ctCt	p.113_114LL>L	KRTCAP3_uc010ylr.2_In_Frame_Del_p.113_114LL>L|KRTCAP3_uc021vfd.1_In_Frame_Del_p.113_114LL>L|KRTCAP3_uc002rkt.3_In_Frame_Del_p.95_96LL>L	NM_173853	NP_776252	Q53RY4	KCP3_HUMAN	Homo sapiens keratinocyte associated protein 3 (KRTCAP3), transcript variant 2, mRNA.	113						integral to membrane				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					CCCTGGGCCTCCTTCTTGCTGTG	0.631												
FAM82A1	151393	broad.mit.edu	37	2	38224583	38224583	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:38224582_38224582GA>G	uc002rqn.2	+	7	1629	c.1503_1503GA>G	c.(1501-1503)gagfs	p.E501fs	FAM82A1_uc002rqk.1_Frame_Shift_Del_p.E178fs|FAM82A1_uc002rql.3_Frame_Shift_Del_p.E323fs|FAM82A1_uc021vga.1_Frame_Shift_Del_p.E323fs|FAM82A1_uc002rqm.3_Frame_Shift_Del_p.E178fs	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	323						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						GCTGGATTGAGAAAAAAATGG	0.358												
UGP2	7360	broad.mit.edu	37	2	64111166	64111167	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:64111165_64111166C>CAA	uc010ypx.2	+	4	547_548	c.540_541C>CAA	c.(538-543)accaaafs	p.T180fs	UGP2_uc002scl.3_Frame_Shift_Ins_p.T160fs|UGP2_uc002scm.3_Frame_Shift_Ins_p.T171fs	NM_001001521	NP_001001521	Q16851	UGPA_HUMAN	Homo sapiens UDP-glucose pyrophosphorylase 2 (UGP2), transcript variant 2, mRNA.	171					UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|glycogen biosynthetic process|phosphorylation|xenobiotic metabolic process	cytosol	UTP:glucose-1-phosphate uridylyltransferase activity|metal ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						ATGAAGATACCAAAAAAATACT	0.327												
ATP6V1B1	525	broad.mit.edu	37	2	71191573	71191573	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:71191572_71191572AC>A	uc002shj.3	+	11	1235	c.1148_1148AC>A	c.(1147-1149)tacfs	p.Y383fs	ATP6V1B1_uc010fdx.3_Frame_Shift_Del_p.Y341fs	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	383					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCTCAGATCTACCCCCCCATC	0.542											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DYSF	8291	broad.mit.edu	37	2	71817411	71817411	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:71817410_71817410CT>C	uc010fen.3	+	31	3707	c.3566_3566CT>C	c.(3565-3567)tctfs	p.S1189fs	DYSF_uc010fei.3_Frame_Shift_Del_p.S1188fs|DYSF_uc010feh.3_Frame_Shift_Del_p.S1157fs|DYSF_uc002sig.4_Frame_Shift_Del_p.S1157fs|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Frame_Shift_Del_p.S1202fs|DYSF_uc010fee.3_Frame_Shift_Del_p.S1171fs|DYSF_uc010fef.3_Frame_Shift_Del_p.S1188fs|DYSF_uc002sie.3_Frame_Shift_Del_p.S1171fs|DYSF_uc010feo.3_Frame_Shift_Del_p.S1203fs|DYSF_uc010fej.3_Frame_Shift_Del_p.S1158fs|DYSF_uc010fel.3_Frame_Shift_Del_p.S1158fs|DYSF_uc010fem.3_Frame_Shift_Del_p.S1172fs|DYSF_uc002sif.3_Frame_Shift_Del_p.S1172fs|DYSF_uc010fek.3_Frame_Shift_Del_p.S1189fs|DYSF_uc010yqy.2_Frame_Shift_Del_p.S52fs	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1171	C2 4.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GACAAGGACTCTTTTTCTGGT	0.552												
DYSF	8291	broad.mit.edu	37	2	71839797	71839797	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:71839796_71839796GC>G	uc010fen.3	+	38	4388	c.4247_4247GC>G	c.(4246-4248)tgcfs	p.C1416fs	DYSF_uc010fei.3_Frame_Shift_Del_p.C1415fs|DYSF_uc010feh.3_Frame_Shift_Del_p.C1384fs|DYSF_uc002sig.4_Frame_Shift_Del_p.C1384fs|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Frame_Shift_Del_p.C1429fs|DYSF_uc010fee.3_Frame_Shift_Del_p.C1398fs|DYSF_uc010fef.3_Frame_Shift_Del_p.C1415fs|DYSF_uc002sie.3_Frame_Shift_Del_p.C1398fs|DYSF_uc010feo.3_Frame_Shift_Del_p.C1430fs|DYSF_uc010fej.3_Frame_Shift_Del_p.C1385fs|DYSF_uc010fel.3_Frame_Shift_Del_p.C1385fs|DYSF_uc010fem.3_Frame_Shift_Del_p.C1399fs|DYSF_uc002sif.3_Frame_Shift_Del_p.C1399fs|DYSF_uc010fek.3_Frame_Shift_Del_p.C1416fs|DYSF_uc010yqy.2_Frame_Shift_Del_p.C279fs|DYSF_uc010yqz.2_Frame_Shift_Del_p.C138fs	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1398						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAGCTCTACTGCCCCCCCATC	0.617												
NAT8B	51471	broad.mit.edu	37	2	73928285	73928286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:73928284_73928285G>GC	uc002sjk.1	-	1	180_181	c.145_146C>GC	c.(145-147)gccfs	p.A49fs		NM_016347	NP_057431	Q9UHF3	NAT8B_HUMAN	Homo sapiens N-acetyltransferase 8B (GCN5-related, putative, gene/pseudogene) (NAT8B), mRNA.	50					gastrulation with mouth forming second	integral to membrane	N-acetyltransferase activity										TAGGGCAAGGGCCCCCCCAAGT	0.624												
DOK1	1796	broad.mit.edu	37	2	74781910	74781911	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:74781909_74781910C>CT	uc002sms.3	+	0	398_399	c.28_29C>CT	c.(28-30)cttfs	p.L10fs	LOXL3_uc010ffm.1_5'Flank|LOXL3_uc002smp.1_5'Flank|LOXL3_uc002smq.1_5'Flank|LOXL3_uc010ffn.1_5'Flank|DOK1_uc002smr.3_Intron|DOK1_uc010ffo.3_5'UTR|DOK1_uc002smt.3_5'UTR|DOK1_uc002smu.3_5'UTR|DOK1_uc010yrz.2_5'UTR|DOK1_uc002smw.1_5'Flank	NM_001381	NP_001184189	Q99704	DOK1_HUMAN	Homo sapiens docking protein 1, 62kDa (downstream of tyrosine kinase 1) (DOK1), transcript variant 1, mRNA.	10	PH.			MDGAVMEGPLFLQSQRFGTK -> RLPAQASATREREPRWS PFQ (in Ref. 3; AAB88182).	fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGAAGGGCCGCTTTTTTTGCAG	0.663												
EIF5B	9669	broad.mit.edu	37	2	99999352	99999352	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:99999351_99999351TA>T	uc002tab.3	+	13	2422	c.2238_2238TA>T	c.(2236-2238)tctfs	p.S746fs		NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	746					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTCTCAAATCTAAAAAATGTC	0.343												
MAP4K4	9448	broad.mit.edu	37	2	102452432	102452433	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:102452431_102452432C>CA	uc002tbc.3	+	8	1142_1143	c.764_765C>CA	c.(763-765)tcafs	p.S255fs	MAP4K4_uc002tbf.3_Frame_Shift_Ins_p.S255fs|MAP4K4_uc002tbd.3_Frame_Shift_Ins_p.S255fs|MAP4K4_uc010yvy.2_Frame_Shift_Ins_p.S255fs|MAP4K4_uc002tbh.3_Frame_Shift_Ins_p.S255fs|MAP4K4_uc002tbg.3_Frame_Shift_Ins_p.S255fs|MAP4K4_uc002tbi.3_Intron|MAP4K4_uc010yvz.2_Frame_Shift_Ins_p.S235fs|MAP4K4_uc010fiw.1_Frame_Shift_Ins_p.S97fs|MAP4K4_uc002tbj.1_Frame_Shift_Ins_p.S151fs	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	255	Protein kinase.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CGGCTGAAGTCAAAAAAATGGT	0.416												
GCC2	9648	broad.mit.edu	37	2	109087884	109087884	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:109087883_109087883GA>G	uc002tec.3	+	5	2252	c.2098_2098GA>G	c.(2098-2100)gaafs	p.E700fs	GCC2_uc002ted.3_Frame_Shift_Del_p.E599fs	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	700					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTCAGTTCAGAAAAAAAACA	0.308												
SAP130	79595	broad.mit.edu	37	2	128699613	128699614	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:128699612_128699613C>CT	uc010fmd.2	-	20	3351_3352	c.3219_3220G>AG	c.(3217-3222)aaagtgfs	p.K1073fs	SAP130_uc002tpn.2_Frame_Shift_Ins_p.K798fs|SAP130_uc002tpp.2_Frame_Shift_Ins_p.K1038fs	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	1038					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AATTTGGACACTTTTTTGACAG	0.431												
RIF1	55183	broad.mit.edu	37	2	152321163	152321164	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:152321162_152321163G>GA	uc002txm.3	+	29	5289_5290	c.5128_5129G>GA	c.(5128-5130)gaafs	p.E1710fs	RIF1_uc002txn.3_Frame_Shift_Ins_p.E1710fs|RIF1_uc002txl.3_Frame_Shift_Ins_p.E1710fs|RIF1_uc002txo.3_Frame_Shift_Ins_p.E1710fs|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	1710					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TTCGCTTTCAGAAAAAACTTTT	0.371												
PDE11A	50940	broad.mit.edu	37	2	178494204	178494204	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:178494203_178494203GT>G	uc002ulq.3	-	19	3052	c.2734_2734AC>C	c.(2734-2736)cgafs	p.R912fs	PDE11A_uc002ulp.3_Frame_Shift_Del_p.R468fs|PDE11A_uc002ulr.3_Frame_Shift_Del_p.R662fs|PDE11A_uc010zfd.2_Frame_Shift_Del_p.R103fs|PDE11A_uc002uls.1_Frame_Shift_Del_p.R554fs|PDE11A_uc002ult.1_Frame_Shift_Del_p.R662fs|PDE11A_uc002ulu.1_Frame_Shift_Del_p.R554fs	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	912					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.R912Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GCCAGCAGTCGTTTTTGGTGT	0.483									Primary Pigmented Nodular Adrenocortical Disease, Familial			
TTN	7273	broad.mit.edu	37	2	179579970	179579971	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:179579969_179579970C>CT	uc021vsy.1	-	86	22436_22437	c.22211_22212G>AG	c.(22210-22212)aagfs	p.K7404fs	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Frame_Shift_Ins_p.K4065fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8331	Ig-like 56.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGATGAGGCTTTTTGCGGAA	0.391												
CASP8	841	broad.mit.edu	37	2	202151290	202151290	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:202151289_202151289GA>G	uc002uxr.1	+	9	1621	c.1412_1412GA>G	c.(1411-1413)agafs	p.R471fs	CASP8_uc002uxq.1_Frame_Shift_Del_p.R456fs|CASP8_uc002uxp.1_Frame_Shift_Del_p.R488fs|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_Frame_Shift_Del_p.R530fs|CASP8_uc002uxw.1_Frame_Shift_Del_p.R456fs|CASP8_uc010ftf.2_Frame_Shift_Del_p.R387fs	NM_033355	NP_203519	Q14790	CASP8_HUMAN	Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA.	471					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TTCACACTAAGAAAAAAACTT	0.398										HNSCC(4;0.00038)		
NBEAL1	65065	broad.mit.edu	37	2	204037549	204037550	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:204037548_204037549G>GA	uc002uzt.3	+	39	6541_6542	c.6208_6209G>GA	c.(6208-6210)gaafs	p.E2070fs	NBEAL1_uc021vvj.1_Frame_Shift_Ins_p.E773fs	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	2070	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GGTAGTTAATGAAAAAAACGCC	0.332												
IRS1	3667	broad.mit.edu	37	2	227661341	227661341	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:227661340_227661340GC>G	uc021vxn.1	-	0	2115	c.2115_2115GC>C	c.(2113-2115)ggcfs	p.G705fs	IRS1_uc002voh.4_Frame_Shift_Del_p.G705fs	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	705					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.G704R(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GAGAGTGGTGGCCCCCTACCC	0.597											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PSMD1	5707	broad.mit.edu	37	2	231927287	231927288	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:231927286_231927287A>AT	uc002vrn.2	+	3	363_364	c.201_202A>AT	c.(199-204)gtatttfs	p.V67fs	PSMD1_uc002vrm.2_Frame_Shift_Ins_p.V67fs|PSMD1_uc010fxu.2_Intron	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 (PSMD1), transcript variant 1, mRNA.	67					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|regulation of protein catabolic process|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	CATCTAAAGTATTTTATCACCT	0.411												
CAPN10	11132	broad.mit.edu	37	2	241536203	241536203	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr2:241536202_241536202CG>C	uc002vzk.2	+	8	1782	c.1586_1586CG>C	c.(1585-1587)gcgfs	p.A529fs	CAPN10_uc002vzp.2_Intron|CAPN10_uc002vzm.2_Intron|CAPN10_uc002vzl.2_Intron|CAPN10_uc002vzn.2_Frame_Shift_Del_p.A401fs|CAPN10_uc002vzo.2_Intron|CAPN10_uc010fzg.2_Intron|CAPN10_uc002vzq.2_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA.	529	Domain III 2.		A -> S.		actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGCCAGACGGCGGGGGGCAGC	0.692												
NEK10	152110	broad.mit.edu	37	3	27157621	27157622	+	Splice_Site	INS	-	-	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:27157620_27157621T>TA	uc010hfk.3	-	15	1527	c.1298_splice	c.e15-1	p.G433_splice	NEK10_uc010hfj.3_Splice_Site_p.G376_splice			Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	1121							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTGGTAAACCTAAAAAAGATAA	0.347												
CISH	1154	broad.mit.edu	37	3	50645819	50645821	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:50645818_50645820TAGG>T	uc010hlq.3	-	2	563_565	c.276_278CCTA>A	c.(274-279)tcctac>tcAc	p.Y93del	CISH_uc003dax.3_In_Frame_Del_p.Y76del	NM_013324	NP_037456	Q9NSE2	CISH_HUMAN	Homo sapiens cytokine inducible SH2-containing protein (CISH), transcript variant 1, mRNA.	76	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TTCCCGAAGGTAGGAGAAGGTCT	0.571												
VPRBP	9730	broad.mit.edu	37	3	51457448	51457448	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:51457447_51457447GT>G	uc003dbe.2	-	13	3003	c.2818_2818AC>C	c.(2818-2820)cagfs	p.Q940fs	VPRBP_uc021wys.1_Frame_Shift_Del_p.Q939fs|VPRBP_uc003dbf.1_Frame_Shift_Del_p.Q269fs	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	993					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CTGTCCAGCTGTTTTTTTATG	0.502												
MYH15	22989	broad.mit.edu	37	3	108172981	108172981	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:108172980_108172980TA>T	uc003dxa.1	-	21	2389	c.2332_2332TA>A	c.(2332-2334)aaafs	p.K778fs		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	778	Actin-binding (By similarity).|Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AACCCAGCTTTAAAAAACACC	0.408												
WDR52	55779	broad.mit.edu	37	3	113085121	113085121	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:113085120_113085120AT>A	uc003ead.2	-	18	2548	c.2481_2481AT>T	c.(2479-2481)aatfs	p.N827fs	WDR52_uc003eae.2_Frame_Shift_Del_p.N827fs	NM_001164496	NP_001157968	Q96MT7	WDR52_HUMAN	Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA.	827										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GAATTGCTCCATTTTTCATTC	0.313												
ZBTB20	26137	broad.mit.edu	37	3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:114058002_114058002AG>A	uc003ebi.3	-	4	2256	c.2076_2076CT>T	c.(2074-2076)cctfs	p.P692fs	ZBTB20_uc003ebj.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.3_Frame_Shift_Del_p.P619fs	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTGTGCCTGCAGGGGGGGTCC	0.632												
B3GALNT1	8706	broad.mit.edu	37	3	160803879	160803879	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:160803878_160803878GT>G	uc003fdv.3	-	4	1084	c.665_665AC>C	c.(664-666)accfs	p.T222fs	B3GALNT1_uc003fdw.3_Frame_Shift_Del_p.T222fs|B3GALNT1_uc003fdx.3_Frame_Shift_Del_p.T222fs|B3GALNT1_uc003fdy.3_Frame_Shift_Del_p.T222fs|B3GALNT1_uc003fdz.3_Frame_Shift_Del_p.T222fs|B3GALNT1_uc003fea.3_Frame_Shift_Del_p.T222fs|B3GALNT1_uc011bpa.2_Intron|B3GALNT1_uc021xgw.1_Frame_Shift_Del_p.T222fs	NM_033169	NP_149359	O75752	B3GL1_HUMAN	Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) (B3GALNT1), transcript variant 4, mRNA.	222					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity	p.T222fs*23(1)		breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			AGAAATATGGGTTTTTTGGTA	0.358												
MYNN	55892	broad.mit.edu	37	3	169504444	169504444	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr3:169504443_169504443AT>A	uc003ffu.3	+	8	2306	c.1810_1810AT>A	c.(1810-1812)attfs	p.I604fs	MYNN_uc011bpm.2_Frame_Shift_Del_p.I490fs|MYNN_uc003fft.3_Frame_Shift_Del_p.I604fs|MYNN_uc003ffv.3_Frame_Shift_Del_p.I331fs|MYNN_uc010hwo.3_Frame_Shift_Del_p.I575fs	NM_001185118	NP_061127	Q9NPC7	MYNN_HUMAN	Homo sapiens myoneurin (MYNN), transcript variant 2, mRNA.	604						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			ACCACAGTTGATTTTTTTACA	0.368												
OCIAD1	54940	broad.mit.edu	37	4	48859372	48859373	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:48859371_48859372C>CA	uc010igk.3	+	7	920_921	c.704_705C>CA	c.(703-705)ccafs	p.P235fs	OCIAD1_uc003gyo.3_Frame_Shift_Ins_p.P230fs|OCIAD1_uc003gyq.3_Intron|OCIAD1_uc003gyp.3_Intron|OCIAD1_uc003gyr.3_Frame_Shift_Ins_p.P230fs|OCIAD1_uc021xoc.1_Intron	NM_001168254	NP_001161726	Q9NX40	OCAD1_HUMAN	Homo sapiens OCIA domain containing 1 (OCIAD1), transcript variant 6, mRNA.	230						endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						GAAAGAGTGCCAAAAAAAGAAG	0.302												
OCIAD2	132299	broad.mit.edu	37	4	48894833	48894833	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:48894832_48894832CA>C	uc003gyt.3	-	5	543	c.340_340TG>G	c.(340-342)gaafs	p.E114fs	OCIAD2_uc003gyu.3_Intron	NM_001014446	NP_001014446	Q56VL3	OCAD2_HUMAN	Homo sapiens OCIA domain containing 2 (OCIAD2), transcript variant 1, mRNA.	114	OCIA.					endosome				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						AGCTGATCTTCAAAAAAATGG	0.393												
TECRL	253017	broad.mit.edu	37	4	65274999	65275000	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:65274998_65274999G>GA	uc003hcv.3	-	0	180_181	c.71_72C>TC	c.(70-72)ttcfs	p.F24fs	TECRL_uc003hcw.3_Frame_Shift_Ins_p.F24fs	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	24					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CCTTCAGTATGAACCGTGTAGC	0.436												
UGT2B10	7365	broad.mit.edu	37	4	69874783	69874784	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:69874782_69874783G>GT	uc011cao.1	-	6	1093_1094	c.967_968C>AC	c.(967-969)accfs	p.T323fs	UGT2B10_uc011can.1_Frame_Shift_Ins_p.T239fs			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	367					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AAAAGCTCTGGTTTTTGGATGA	0.386												
ANKRD17	26057	broad.mit.edu	37	4	73981636	73981636	+	Splice_Site	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:73981635_73981635TA>T	uc003hgp.3	-	23	4306	c.4189_splice	c.e23-1	p.G1397_splice	ANKRD17_uc003hgo.3_Splice_Site_p.G1284_splice|ANKRD17_uc003hgq.3_Splice_Site_p.G1146_splice|ANKRD17_uc003hgr.3_Splice_Site_p.G1396_splice|ANKRD17_uc011cbd.1_Splice_Site_p.G962_splice	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	1397					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CACATGACCCTAAAAAATAGA	0.358												
FGF5	2250	broad.mit.edu	37	4	81196142	81196142	+	Frame_Shift_Del	DEL	A	A	-	rs35667286		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:81196141_81196141CA>C	uc003hmd.3	+	1	671	c.434_434CA>C	c.(433-435)tcafs	p.S145fs	FGF5_uc003hme.3_Intron	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	145					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						TTAGCGATGTCAAAAAAAGGA	0.328												
INTS12	57117	broad.mit.edu	37	4	106621122	106621123	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:106621121_106621122C>CA	uc003hxw.3	-	2	299_300	c.41_42G>TG	c.(40-42)ttgfs	p.L14fs	INTS12_uc010ilr.3_Frame_Shift_Ins_p.L14fs	NM_020395	NP_065128	Q96CB8	INT12_HUMAN	Homo sapiens integrator complex subunit 12 (INTS12), transcript variant 1, mRNA.	14					snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		CTAGTGCTTTCAAAAAAATGGG	0.386												
CFI	3426	broad.mit.edu	37	4	110687927	110687927	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:110687926_110687926AT>A	uc011cft.2	-	1	320	c.112_112AT>T	c.(112-114)tatfs	p.Y38fs	CFI_uc003hzr.4_Frame_Shift_Del_p.Y38fs	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	38					complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		AGGTGAGTATATTTTTTTGCT	0.398												
PCDH10	57575	broad.mit.edu	37	4	134071968	134071969	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:134071967_134071968G>GCC	uc003iha.3	+	0	1498_1499	c.672_673G>GCC	c.(670-675)ctgcccfs	p.L224fs	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Frame_Shift_Ins_p.L224fs	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	224	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		gagcaggCCTGCCCCCCCAGCA	0.668												
NR3C2	4306	broad.mit.edu	37	4	149002528	149002528	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:149002527_149002527TC>T	uc003ilj.4	-	8	3286	c.2923_2923GA>A	c.(2923-2925)aacfs	p.N975fs	NR3C2_uc003ilk.4_Frame_Shift_Del_p.N858fs|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	975	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GGCTTGGCGTTCCCCGACTCC	0.577												
PLRG1	5356	broad.mit.edu	37	4	155468219	155468220	+	Splice_Site	INS	-	-	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr4:155468218_155468219T>TA	uc003iny.3	-	4	385	c.260_splice	c.e4-1	p.G87_splice	PLRG1_uc003inz.3_Splice_Site_p.G87_splice|PLRG1_uc011cil.2_Splice_Site	NM_002669	NP_002660	O43660	PLRG1_HUMAN	Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA.	87						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CTTCTTGTCCTAAAAAAACACA	0.307												
TRIO	7204	broad.mit.edu	37	5	14487781	14487782	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:14487780_14487781A>AC	uc003jff.3	+	47	7049_7050	c.7043_7044A>AC	c.(7042-7044)cacfs	p.H2348fs	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Frame_Shift_Ins_p.H1997fs	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2348					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GTCCGACACCACCCCCCCGTGC	0.748												
NIPBL	25836	broad.mit.edu	37	5	36985528	36985528	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:36985527_36985527CA>C	uc003jkl.4	+	9	2744	c.2245_2245CA>C	c.(2245-2247)caafs	p.Q749fs	NIPBL_uc003jkk.4_Frame_Shift_Del_p.Q749fs|NIPBL_uc003jkm.1_Frame_Shift_Del_p.Q628fs	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	749					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AACTCCAAAGCAAAAAAATGA	0.453												
WDR70	55100	broad.mit.edu	37	5	37727018	37727019	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:37727017_37727018ACT>A	uc003jkv.3	+	16	1805_1806	c.1747_1748ACT>A	c.(1747-1749)actfs	p.T583fs		NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	Homo sapiens WD repeat domain 70 (WDR70), mRNA.	583										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACGGGGGCACTCTCTCTTCC	0.450												
FYB	2533	broad.mit.edu	37	5	39202091	39202091	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:39202090_39202090GC>G	uc003jls.3	-	0	1040	c.973_973GC>C	c.(973-975)ccafs	p.P325fs	FYB_uc003jlt.3_Frame_Shift_Del_p.P325fs|FYB_uc003jlu.3_Frame_Shift_Del_p.P325fs|FYB_uc011cpl.2_Frame_Shift_Del_p.P335fs	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	325					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding	p.P325A(4)|p.P335A(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGCCCCATGGCCCCCCCACT	0.537												
FYB	2533	broad.mit.edu	37	5	39203040	39203041	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:39203039_39203040G>GC	uc003jls.3	-	0	90_91	c.23_24C>GC	c.(22-24)ggcfs	p.G8fs	FYB_uc003jlt.3_Frame_Shift_Ins_p.G8fs|FYB_uc003jlu.3_Frame_Shift_Ins_p.G8fs|FYB_uc011cpl.2_Frame_Shift_Ins_p.G18fs	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	8					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CTGTCGGGTTGCCCCCCGTGTT	0.446												
AQPEP	206338	broad.mit.edu	37	5	115336805	115336805	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:115336804_115336804TA>T	uc003kro.3	+	9	1852	c.1688_1688TA>T	c.(1687-1689)atafs	p.I563fs	AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	563					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										CCAGCAACAATAAAAAACATA	0.388												
CTNNA1	1495	broad.mit.edu	37	5	138253516	138253516	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:138253515_138253515GA>G	uc003ldh.3	+	10	1569	c.1474_1474GA>G	c.(1474-1476)gaafs	p.E492fs	CTNNA1_uc011cyx.2_Frame_Shift_Del_p.E389fs|CTNNA1_uc011cyy.2_Frame_Shift_Del_p.E369fs|CTNNA1_uc003ldi.3_Frame_Shift_Del_p.E190fs|CTNNA1_uc003ldj.3_Frame_Shift_Del_p.E492fs|CTNNA1_uc003ldl.3_Frame_Shift_Del_p.E122fs	NM_001903	NP_001894	P35221	CTNA1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.	492					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGAACAATGGGAAAAACAAGT	0.413												
PCDHB13	56123	broad.mit.edu	37	5	140594607	140594607	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:140594606_140594606TA>T	uc003lja.1	+	0	1098	c.911_911TA>T	c.(910-912)ctafs	p.L304fs		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	304	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAATTGAACTAAAAAAACAA	0.388												
LARP1	23367	broad.mit.edu	37	5	154173390	154173391	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:154173389_154173390G>GC	uc003lvo.3	+	5	691_692	c.667_668G>GC	c.(667-669)gccfs	p.A223fs	LARP1_uc021ygh.1_Frame_Shift_Ins_p.A95fs|LARP1_uc021ygi.1_Frame_Shift_Ins_p.A300fs|LARP1_uc010jie.1_Frame_Shift_Ins_p.A95fs	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	300							RNA binding|protein binding	p.T303fs*19(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGTGCCCGTGGCCCCCCCCACC	0.644												
HNRNPH1	3187	broad.mit.edu	37	5	179044087	179044089	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr5:179044086_179044088CAAG>C	uc021yjd.1	-	8	1112_1114	c.1081_1083CTTG>G	c.(1081-1083)ttg>G	p.L361del	HNRNPH1_uc011dgn.2_In_Frame_Del_p.L91del|HNRNPH1_uc003mkf.4_In_Frame_Del_p.L361del|HNRNPH1_uc003mkg.4_In_Frame_Del_p.L269del|HNRNPH1_uc003mke.4_In_Frame_Del_p.L361del|HNRNPH1_uc003mkh.4_In_Frame_Del_p.L361del	NM_005520	NP_005511	P31943	HNRH1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein H1 (H) (HNRNPH1), mRNA.	361	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.|RRM 3.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CTGTAGAATTCAAGAAGAGTTCT	0.340												
SYCP2L	221711	broad.mit.edu	37	6	10935386	10935386	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:10935385_10935385CT>C	uc003mzo.3	+	20	2074	c.1778_1778CT>C	c.(1777-1779)gctfs	p.A593fs	SYCP2L_uc010jow.3_Frame_Shift_Del_p.A213fs	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	593						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GATAGTTTTGCTTTTTTGACT	0.348												
ZKSCAN4	387032	broad.mit.edu	37	6	28212908	28212909	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:28212907_28212908G>GT	uc003nks.1	-	4	1868_1869	c.1624_1625C>AC	c.(1624-1626)actfs	p.T542fs	ZKSCAN4_uc011dlb.1_Frame_Shift_Ins_p.T387fs	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 4 (ZKSCAN4), mRNA.	542					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CTGTGAAAGAGTTTTTTTCCCT	0.446												
DDR1	780	broad.mit.edu	37	6	30863251	30863252	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:30863250_30863251G>GC	uc003nrv.3	+	10	1625_1626	c.1583_1584G>GC	c.(1582-1584)ggcfs	p.G528fs	DDR1_uc010jse.3_Intron|DDR1_uc003nrq.3_Intron|DDR1_uc003nrr.3_Frame_Shift_Ins_p.G528fs|DDR1_uc003nrs.3_Frame_Shift_Ins_p.G528fs|DDR1_uc003nrt.3_Intron|DDR1_uc011dms.2_Intron|DDR1_uc003nru.3_Intron|DDR1_uc003nry.2_Intron|DDR1_uc003nrx.2_Intron|DDR1_uc003nrw.1_Frame_Shift_Ins_p.A300fs	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	528	Gly/Pro-rich.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CGAGGCCCGGGCCCCCCCACAC	0.683												
RXRB	6257	broad.mit.edu	37	6	33166144	33166145	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:33166143_33166144A>AG	uc003odb.3	-	2	760_761	c.581_582T>CT	c.(580-582)cctfs	p.P194fs	RXRB_uc003odc.3_Frame_Shift_Ins_p.P194fs|RXRB_uc011dqr.2_Intron|RXRB_uc011dqs.1_Intron|RXRB_uc003ode.1_Frame_Shift_Ins_p.P58fs|RXRB_uc011dqt.1_Frame_Shift_Ins_p.P194fs|RXRB_uc011dqu.1_Frame_Shift_Ins_p.P98fs|JA611279_uc021ywi.1_5'Flank|SLC39A7_uc003odf.3_5'Flank|SLC39A7_uc003odg.3_5'Flank|SLC39A7_uc011dqv.2_5'Flank	NM_021976	NP_068811	P28702	RXRB_HUMAN	Homo sapiens retinoid X receptor, beta (RXRB), mRNA.	194	Modulating (By similarity).|Pro-rich.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.P194S(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGCCACCTGGAGGGGGTGGACA	0.614												
KIF6	221458	broad.mit.edu	37	6	39580993	39580993	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:39580992_39580992TA>T	uc003oot.2	-	5	707	c.612_612TA>A	c.(610-612)ttafs	p.L204fs	KIF6_uc010jxa.1_5'UTR|KIF6_uc011dua.1_Frame_Shift_Del_p.L204fs|KIF6_uc010jxb.1_Frame_Shift_Del_p.L204fs	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	204	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGGTGTCTCCTAAAAAAAGCA	0.398												
FOXP4	116113	broad.mit.edu	37	6	41555186	41555186	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:41555185_41555185AC>A	uc003oql.3	+	6	1265	c.807_807AC>A	c.(805-807)tcafs	p.S269fs	FOXP4_uc003oqm.3_Frame_Shift_Del_p.S267fs|FOXP4_uc003oqn.3_Frame_Shift_Del_p.S268fs	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	Homo sapiens forkhead box P4 (FOXP4), transcript variant 1, mRNA.	269					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCAAGGTCTCACCCCCCCTCT	0.677											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
ZNF292	23036	broad.mit.edu	37	6	87965854	87965854	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:87965853_87965853GA>G	uc003plm.4	+	7	2547	c.2506_2506GA>G	c.(2506-2508)gaafs	p.E836fs		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	836					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TACTCCTCCTGAAAAAGTGCT	0.413												
MDN1	23195	broad.mit.edu	37	6	90366426	90366426	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:90366425_90366425GT>G	uc003pnn.1	-	90	15395	c.15279_15279AC>C	c.(15277-15279)aacfs	p.N5093fs		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	5093					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAACCTGTGTGTTTTTCCTGG	0.433												
POU3F2	5454	broad.mit.edu	37	6	99284028	99284028	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:99284027_99284027CG>C	uc003ppe.3	+	0	1448	c.1278_1278CG>C	c.(1276-1278)tacfs	p.Y426fs		NM_005604	NP_005595	P20265	PO3F2_HUMAN	Homo sapiens POU class 3 homeobox 2 (POU3F2), mRNA.	426					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		AGGATGTGTACGGGGGGAGTA	0.637												
ECHDC1	55862	broad.mit.edu	37	6	127652056	127652056	+	Frame_Shift_Del	DEL	T	T	-	rs148450288		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:127652055_127652055GT>G	uc003qax.3	-	1	173	c.137_137AC>C	c.(136-138)acafs	p.T46fs	ECHDC1_uc003qaz.4_Frame_Shift_Del_p.T40fs|ECHDC1_uc010key.3_Intron|ECHDC1_uc003qay.4_Frame_Shift_Del_p.T40fs|ECHDC1_uc010kez.3_Intron	NM_001139510	NP_001099014	Q9NTX5	ECHD1_HUMAN	Homo sapiens enoyl CoA hydratase domain containing 1 (ECHDC1), transcript variant 5, mRNA.	46							catalytic activity			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		CTGCTGAAGTGTTTTTTTCAC	0.398												
HECA	51696	broad.mit.edu	37	6	139488147	139488148	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:139488146_139488147A>AG	uc003qin.3	+	1	1282_1283	c.997_998A>AG	c.(997-999)aggfs	p.R333fs		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	333					respiratory tube development			p.H336fs*25(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GGCAGTTCACAGGGGGGGACAC	0.589												
AKAP12	9590	broad.mit.edu	37	6	151670524	151670525	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:151670523_151670524G>GA	uc011eep.2	+	3	1237_1238	c.997_998G>GA	c.(997-999)gaafs	p.E333fs	AKAP12_uc003qoe.3_Frame_Shift_Ins_p.E333fs|AKAP12_uc003qof.3_Frame_Shift_Ins_p.E235fs|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Frame_Shift_Ins_p.E228fs	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	333	Involved in PKC-binding (Probable).				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		ACAAGAGCCAGAAAAAGTAGAC	0.545												
ARID1B	57492	broad.mit.edu	37	6	157527398	157527398	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:157527397_157527397CA>C	uc003qqp.3	+	18	5083	c.5083_5083CA>C	c.(5083-5085)caafs	p.Q1695fs	ARID1B_uc003qqo.3_Frame_Shift_Del_p.Q1708fs|ARID1B_uc003qqn.3_Frame_Shift_Del_p.Q1748fs	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1695					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGACCCCAGCCAAAAAGCACT	0.438												
DLL1	28514	broad.mit.edu	37	6	170594674	170594674	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr6:170594673_170594673GC>G	uc003qxm.3	-	5	1316	c.846_846GC>C	c.(844-846)ggcfs	p.G282fs		NM_005618	NP_005609	O00548	DLL1_HUMAN	Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA.	282	EGF-like 2.				Notch receptor processing|Notch signaling pathway|cell communication|cell fate determination|hemopoiesis|regulation of cell adhesion	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TGCAGAAAAGGCCCCCCCAGC	0.602												
ETV1	2115	broad.mit.edu	37	7	13975473	13975473	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:13975472_13975472TG>T	uc021zzz.1	-	5	502	c.415_415CA>A	c.(415-417)acafs	p.T139fs	ETV1_uc021zzt.1_Frame_Shift_Del_p.T99fs|ETV1_uc021zzu.1_Intron|ETV1_uc021zzv.1_Frame_Shift_Del_p.T81fs|ETV1_uc021zzw.1_Frame_Shift_Del_p.T99fs|ETV1_uc021zzx.1_Intron|ETV1_uc021zzy.1_Frame_Shift_Del_p.T81fs|ETV1_uc022aaa.1_Frame_Shift_Del_p.T121fs|ETV1_uc022aab.1_Frame_Shift_Del_p.T139fs|ETV1_uc003ssw.4_Frame_Shift_Del_p.T139fs|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_Frame_Shift_Del_p.T121fs|ETV1_uc022aad.1_Frame_Shift_Del_p.T121fs|ETV1_uc010ktv.3_Frame_Shift_Del_p.T8fs	NM_004956	NP_004947	P50549	ETV1_HUMAN	Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA.	139					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTGGATGGTGTGGGGGGGTTG	0.532			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""							
DNAH11	8701	broad.mit.edu	37	7	21894039	21894039	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:21894038_21894038CA>C	uc003svc.3	+	68	11219	c.11188_11188CA>C	c.(11188-11190)caafs	p.Q3730fs		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3730					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TAATGACCTCCAAAAAATCAA	0.378									Kartagener syndrome			
OGDH	4967	broad.mit.edu	37	7	44715743	44715743	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:44715742_44715742GA>G	uc003tln.3	+	8	1359	c.1200_1200GA>G	c.(1198-1200)gggfs	p.G400fs	OGDH_uc003tlm.3_Frame_Shift_Del_p.G400fs|OGDH_uc011kbx.2_Frame_Shift_Del_p.G396fs|OGDH_uc011kby.2_Frame_Shift_Del_p.G250fs|OGDH_uc003tlp.3_Frame_Shift_Del_p.G411fs|OGDH_uc011kbz.2_Frame_Shift_Del_p.G195fs|OGDH_uc003tlo.1_Frame_Shift_Del_p.G233fs	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	400					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	ACACTGAAGGGAAAAAGGTAA	0.582												
LANCL2	55915	broad.mit.edu	37	7	55492954	55492956	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:55492953_55492955AAGG>A	uc003tqp.3	+	6	1593_1595	c.1015_1017AAGG>A	c.(1015-1017)aag>A	p.K339del		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 2 (bacterial) (LANCL2), mRNA.	339					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|GTP binding|catalytic activity|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			CCAGGTCTTTAAGGAGGAGAAGT	0.448												
ZNF138	7697	broad.mit.edu	37	7	64291954	64291954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:64291953_64291953TA>T	uc011kdq.2	+	2	431	c.255_255TA>T	c.(253-255)tgtfs	p.C85fs	ZNF138_uc003ttg.3_Frame_Shift_Del_p.C54fs|ZNF138_uc003tth.3_Non-coding_Transcript|ZNF138_uc010kzs.3_Frame_Shift_Del_p.C79fs|ZNF138_uc011kdp.2_3'UTR	NM_006524	NP_006515	B4DP87	B4DP87_HUMAN	Homo sapiens zinc finger protein 138 (ZNF138), transcript variant 1, mRNA.	85					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				GAAAAGGCTGTAAAAGTGTGG	0.333												
ZNF92	168374	broad.mit.edu	37	7	64863267	64863267	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:64863266_64863266AT>A	uc003ttz.3	+	3	382	c.239_239AT>A	c.(238-240)catfs	p.H80fs	ZNF92_uc003tua.3_Frame_Shift_Del_p.H11fs|ZNF92_uc010kzu.3_Frame_Shift_Del_p.H48fs|ZNF92_uc003tub.3_Frame_Shift_Del_p.H4fs|ZNF92_uc022afd.1_5'Flank	NM_152626	NP_009070	Q03936	ZNF92_HUMAN	Homo sapiens zinc finger protein 92 (ZNF92), transcript variant 2, mRNA.	80						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				ATGTGTTCTCATTTTGCCCAA	0.299												
STYXL1	51657	broad.mit.edu	37	7	75625886	75625886	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:75625885_75625885GT>G	uc003uel.3	-	8	1186	c.843_843AC>C	c.(841-843)aacfs	p.N281fs	STYXL1_uc003uef.3_Frame_Shift_Del_p.N71fs|STYXL1_uc011kgg.2_Frame_Shift_Del_p.Q96fs|STYXL1_uc003ueh.3_Frame_Shift_Del_p.N143fs|STYXL1_uc011kgf.2_Frame_Shift_Del_p.Q106fs|STYXL1_uc003uek.4_Frame_Shift_Del_p.N185fs|STYXL1_uc003uem.3_Frame_Shift_Del_p.N281fs|TMEM120A_uc003ued.3_5'Flank|TMEM120A_uc003uec.2_5'Flank|TMEM120A_uc022agl.1_5'Flank	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN	Homo sapiens serine/threonine/tyrosine interacting-like 1 (STYXL1), mRNA.	281	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						GACACATGTTGTTTTTGCACT	0.478												
CROT	54677	broad.mit.edu	37	7	86991046	86991046	+	Splice_Site	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:86991045_86991045GA>G	uc003uiu.3	+	7	752	c.507_splice	c.e7-1	p.K169_splice	CROT_uc003uit.3_Splice_Site_p.K141_splice	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	141					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TTTTAATAGAGAAAAAGTGCC	0.323												
GTPBP10	85865	broad.mit.edu	37	7	90014224	90014225	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:90014223_90014224G>GA	uc003ukm.2	+	9	996_997	c.919_920G>GA	c.(919-921)gaafs	p.E307fs	GTPBP10_uc003ukn.2_Frame_Shift_Ins_p.E228fs|GTPBP10_uc003uko.2_Frame_Shift_Ins_p.E117fs|CLDN12_uc003ukp.3_5'UTR|CLDN12_uc003ukq.3_5'UTR	NM_033107	NP_149098	A4D1E9	GTPBA_HUMAN	Homo sapiens GTP-binding protein 10 (putative) (GTPBP10), transcript variant 2, mRNA.	307					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						GCATTTATTTGAAAAAAACATG	0.327												
CDK14	5218	broad.mit.edu	37	7	90708770	90708770	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:90708769_90708769TA>T	uc003uky.2	+	11	1350	c.1128_1128TA>T	c.(1126-1128)tctfs	p.S376fs	CDK14_uc003ukz.1_Frame_Shift_Del_p.S358fs|CDK14_uc010les.1_Frame_Shift_Del_p.S330fs|CDK14_uc011khl.1_Frame_Shift_Del_p.S247fs	NM_012395	NP_036527	O94921	CDK14_HUMAN	Homo sapiens cyclin-dependent kinase 14 (CDK14), mRNA.	376	Protein kinase.				G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TGTACAGCTCTAAAAACCTTA	0.279												
AKAP9	10142	broad.mit.edu	37	7	91732039	91732039	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:91732038_91732038TG>T	uc003ulg.3	+	45	11453	c.11228_11228TG>T	c.(11227-11229)atgfs	p.M3743fs	AKAP9_uc003ulf.3_Frame_Shift_Del_p.M3735fs|AKAP9_uc003uli.3_Frame_Shift_Del_p.M3366fs|AKAP9_uc003ulj.3_Frame_Shift_Del_p.M1513fs|AKAP9_uc003ull.3_Frame_Shift_Del_p.M639fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3747					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGCCCGGATGGGGGGGCAG	0.537			T	BRAF	papillary thyroid							
HEPACAM2	253012	broad.mit.edu	37	7	92826814	92826814	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:92826813_92826813AT>A	uc011khy.2	-	5	1215	c.1192_1192AT>T	c.(1192-1194)tatfs	p.Y398fs	HEPACAM2_uc003uml.3_Frame_Shift_Del_p.Y363fs|HEPACAM2_uc010lff.3_Frame_Shift_Del_p.Y363fs|HEPACAM2_uc003umm.3_Frame_Shift_Del_p.Y375fs	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	375						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TAGGGTTGATATTTTTTCCAT	0.294												
OR2AE1	81392	broad.mit.edu	37	7	99474203	99474204	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:99474202_99474203G>GC	uc003usc.1	-	0	454_455	c.454_455C>GC	c.(454-456)gcafs	p.A152fs		NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AE, member 1 (OR2AE1), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GTTCACGGATGCCCCCAACCAT	0.515												
MLL5	55904	broad.mit.edu	37	7	104715218	104715218	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:104715217_104715217GA>G	uc003vcm.3	+	7	1218	c.684_684GA>G	c.(682-684)aggfs	p.R228fs	MLL5_uc010lja.1_Frame_Shift_Del_p.R82fs|MLL5_uc010ljb.1_Frame_Shift_Del_p.R228fs|MLL5_uc003vcl.3_Frame_Shift_Del_p.R228fs|MLL5_uc010ljc.3_Frame_Shift_Del_p.R228fs|MLL5_uc003vco.1_Non-coding_Transcript|MLL5_uc010ljd.1_5'Flank	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	228					DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						ATAAAAGAAGGAAAAAAAGCG	0.358												
PUS7	54517	broad.mit.edu	37	7	105148864	105148864	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:105148863_105148863GT>G	uc010lji.3	-	0	105	c.97_97AC>C	c.(97-99)cagfs	p.Q33fs	PUS7_uc003vcx.3_Frame_Shift_Del_p.Q33fs|PUS7_uc003vcy.3_Frame_Shift_Del_p.Q33fs|PUS7_uc003vcz.1_Frame_Shift_Del_p.Q33fs	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae) (PUS7), mRNA.	33					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						GACAGCTTCTGTTTTTTTGTC	0.483												
LAMB4	22798	broad.mit.edu	37	7	107692600	107692603	+	Frame_Shift_Del	DEL	AAGT	AAGT	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:107692599_107692602CAAGT>C	uc010ljo.1	-	25	3940_3943	c.3856_3859ACTTG>G	c.(3856-3861)cttgaafs	p.L1286fs	LAMB4_uc003vey.2_Frame_Shift_Del_p.L1286fs|LAMB4_uc010ljp.1_Frame_Shift_Del_p.L255fs	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1286	Domain II.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGAAGGTCTTCAAGTAAGAGGTCT	0.368												
IFRD1	3475	broad.mit.edu	37	7	112108039	112108040	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:112108038_112108039C>CT	uc003vgh.3	+	9	1379_1380	c.909_910C>CT	c.(907-912)gactttfs	p.D303fs	IFRD1_uc011kmn.2_Frame_Shift_Ins_p.D253fs|IFRD1_uc003vgj.3_Frame_Shift_Ins_p.D303fs|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Frame_Shift_Ins_p.D253fs|IFRD1_uc003vgk.3_Frame_Shift_Ins_p.D20fs	NM_001007245	NP_001184009	O00458	IFRD1_HUMAN	Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA.	303					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TTGTCCAGGACTTTTTTTATGA	0.391												
WNT16	51384	broad.mit.edu	37	7	120971879	120971879	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:120971878_120971878TG>T	uc003vjw.3	+	2	750	c.493_493TG>T	c.(493-495)tggfs	p.W165fs	WNT16_uc003vjv.3_Frame_Shift_Del_p.W155fs|WNT16_uc010lkl.3_Intron	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 16 (WNT16), transcript variant 1, mRNA.	165					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of JNK cascade|positive regulation of gene expression|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	p.C168fs*4(2)|p.H164P(1)		breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					AGGCTGGCACTGGGGGGGCTG	0.537												
PAX4	5078	broad.mit.edu	37	7	127255557	127255557	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:127255556_127255556GC>G	uc010lld.1	-	0	225	c.19_19GC>C	c.(19-21)ctcfs	p.L7fs	PAX4_uc003vmf.2_5'UTR|PAX4_uc003vmg.1_Frame_Shift_Del_p.L7fs|PAX4_uc003vmh.3_5'UTR	NM_006193	NP_006184	O43316	PAX4_HUMAN	Homo sapiens paired box 4 (PAX4), mRNA.	15	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TTCACAAAGAGCCCCCCAAGC	0.612												
WDR91	29062	broad.mit.edu	37	7	134871808	134871809	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:134871807_134871808C>CT	uc003vsp.2	-	13	2057_2058	c.1995_1996G>AG	c.(1993-1998)caagtcfs	p.Q665fs	WDR91_uc010lmr.2_Non-coding_Transcript|WDR91_uc010lmq.2_Frame_Shift_Ins_p.Q254fs	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	Homo sapiens WD repeat domain 91 (WDR91), mRNA.	665										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CCCCTGGGGACTTGAACCTGCT	0.559												
BRAF	673	broad.mit.edu	37	7	140482927	140482927	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:140482926_140482926AG>A	uc003vwc.4	-	9	1270	c.1209_1209CT>T	c.(1207-1209)cctfs	p.P403fs		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	403					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GTAATGAGGCAGGGGGGGTAG	0.428		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome			
FAM131B	9715	broad.mit.edu	37	7	143053878	143053878	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:143053877_143053877TC>T	uc010lpa.3	-	6	993	c.849_849GA>A	c.(847-849)ggafs	p.G283fs	FAM131B_uc010loz.3_Frame_Shift_Del_p.G223fs|FAM131B_uc003wct.3_Frame_Shift_Del_p.G255fs|FAM131B_uc003wcu.4_Frame_Shift_Del_p.G255fs	NM_001031690	NP_055505	Q86XD5	F131B_HUMAN	Homo sapiens family with sequence similarity 131, member B (FAM131B), transcript variant a, mRNA.	255	Poly-Glu.									breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					AGTCAGTGTCTCCCCCCAGCA	0.607												
NOM1	64434	broad.mit.edu	37	7	156742955	156742956	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:156742954_156742955C>CT	uc003wmy.3	+	0	538_539	c.523_524C>CT	c.(523-525)cttfs	p.L175fs		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	Homo sapiens nucleolar protein with MIF4G domain 1 (NOM1), mRNA.	175	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GAAACGGGCGCTTTTAGCGGCG	0.673												
WDR60	55112	broad.mit.edu	37	7	158695164	158695164	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr7:158695163_158695163CA>C	uc003woe.4	+	9	1392	c.1234_1234CA>C	c.(1234-1236)caafs	p.Q412fs	WDR60_uc010lqv.3_Non-coding_Transcript|WDR60_uc010lqw.3_5'UTR	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	Homo sapiens WD repeat domain 60 (WDR60), mRNA.	412										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TCCTCTAGCTCAAAAAAAGGA	0.373												
SGK223	157285	broad.mit.edu	37	8	8185359	8185359	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:8185358_8185358CT>C	uc003wsh.4	-	3	2934	c.2934_2934AG>G	c.(2932-2934)aagfs	p.K978fs		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	978	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										AGTGGAGCTCCTTTTTCTGGC	0.552												
EPB49	2039	broad.mit.edu	37	8	21926552	21926552	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:21926551_21926551TC>T	uc022asw.1	+	3	312	c.274_274TC>T	c.(274-276)tccfs	p.S92fs	EPB49_uc022asq.1_Frame_Shift_Del_p.S92fs|EPB49_uc011kys.1_Intron|EPB49_uc022asr.1_Frame_Shift_Del_p.S92fs|EPB49_uc022ass.1_Frame_Shift_Del_p.S67fs|EPB49_uc022ast.1_Frame_Shift_Del_p.S92fs|EPB49_uc022asu.1_Frame_Shift_Del_p.S92fs|EPB49_uc022asv.1_Frame_Shift_Del_p.S92fs|EPB49_uc022asx.1_Frame_Shift_Del_p.S92fs|EPB49_uc022asy.1_Frame_Shift_Del_p.S67fs	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	92					actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		CAAATCCACATCCCCCCCACC	0.607												
EPB49	2039	broad.mit.edu	37	8	21926994	21926994	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:21926993_21926993AC>A	uc022asw.1	+	4	396	c.358_358AC>A	c.(358-360)accfs	p.T120fs	EPB49_uc022asq.1_Frame_Shift_Del_p.T120fs|EPB49_uc011kys.1_Frame_Shift_Del_p.T80fs|EPB49_uc022asr.1_Frame_Shift_Del_p.T120fs|EPB49_uc022ass.1_Frame_Shift_Del_p.T95fs|EPB49_uc022ast.1_Frame_Shift_Del_p.T120fs|EPB49_uc022asu.1_Frame_Shift_Del_p.T120fs|EPB49_uc022asv.1_Frame_Shift_Del_p.T120fs|EPB49_uc022asx.1_Frame_Shift_Del_p.T120fs|EPB49_uc022asy.1_Frame_Shift_Del_p.T95fs	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	120					actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		AACCACTGGAACCCCCCGGAC	0.622												
CLU	1191	broad.mit.edu	37	8	27466514	27466515	+	Frame_Shift_Ins	INS	-	-	T	rs138211435		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:27466513_27466514G>GT	uc003xfy.2	-	2	367_368	c.220_221C>AC	c.(220-222)acafs	p.T74fs	CLU_uc003xfw.2_Frame_Shift_Ins_p.T63fs|CLU_uc003xfx.2_Frame_Shift_Ins_p.T63fs|CLU_uc003xfz.2_Frame_Shift_Ins_p.T63fs	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	63					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CTCTTCGTTTGTTTTTTCTATG	0.460												
SCARA5	286133	broad.mit.edu	37	8	27823980	27823980	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:27823979_27823979GC>G	uc003xgj.3	-	2	804	c.193_193GC>C	c.(193-195)ctcfs	p.L65fs	SCARA5_uc010luz.3_Frame_Shift_Del_p.L65fs|SCARA5_uc003xgk.3_Intron|SCARA5_uc003xgl.3_Frame_Shift_Del_p.L65fs	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	Homo sapiens scavenger receptor class A, member 5 (putative) (SCARA5), mRNA.	65					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		AGCAGGTAGAGCCCCAGGACA	0.542												
WHSC1L1	54904	broad.mit.edu	37	8	38187222	38187223	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:38187221_38187222G>GT	uc003xli.3	-	5	1773_1774	c.1255_1256C>AC	c.(1255-1257)accfs	p.T419fs	WHSC1L1_uc011lbm.2_Frame_Shift_Ins_p.T419fs|WHSC1L1_uc010lwe.3_Frame_Shift_Ins_p.T419fs|WHSC1L1_uc003xlj.3_Frame_Shift_Ins_p.T419fs	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	419					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TGGTCGTCGGGTTTTTTTAACT	0.431			T	NUP98	AML							
RB1CC1	9821	broad.mit.edu	37	8	53568877	53568877	+	Frame_Shift_Del	DEL	T	T	-	rs138517468		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:53568876_53568876GT>G	uc003xre.4	-	14	4071	c.3513_3513AC>C	c.(3511-3513)aacfs	p.N1171fs	RB1CC1_uc003xrf.4_Frame_Shift_Del_p.N1171fs	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	1171					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding	p.N1171fs*8(2)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GTTCTTTTAGGTTTTTTTCTA	0.289												
TRPA1	8989	broad.mit.edu	37	8	72977796	72977796	+	Splice_Site	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:72977795_72977795TA>T	uc003xza.3	-	4	620	c.445_splice	c.e4-1	p.V149_splice		NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	149						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AAGCAAGACCTAAAAAAAGGG	0.368												
TRPA1	8989	broad.mit.edu	37	8	72984094	72984094	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:72984093_72984093CA>C	uc003xza.3	-	1	296	c.121_121TG>G	c.(121-123)gaafs	p.E41fs		NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	41						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GCACTTCCTTCAAAAACCACC	0.323												
TMEM55A	55529	broad.mit.edu	37	8	92020972	92020972	+	Splice_Site	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:92020971_92020971AT>A	uc003yes.3	-	5	765	c.539_splice	c.e5+1	p.I180_splice		NM_018710	NP_061180	Q8N4L2	TM55A_HUMAN	Homo sapiens transmembrane protein 55A (TMEM55A), mRNA.	180						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	p.I180fs*6(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			GGGAACTTACATTTTTTTGCA	0.318												
CCNE2	9134	broad.mit.edu	37	8	95905168	95905168	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:95905167_95905167TC>T	uc003yhc.3	-	4	300	c.196_196GA>A	c.(196-198)atcfs	p.I66fs	CCNE2_uc003yhd.2_Frame_Shift_Del_p.I66fs	NM_057749	NP_477097	O96020	CCNE2_HUMAN	Homo sapiens cyclin E2 (CCNE2), mRNA.	66					G1/S transition of mitotic cell cycle|cell cycle checkpoint|cell division|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding	p.I66fs*8(2)		cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					CAAGGACTGATCCCCCCAGAT	0.308												
UBR5	51366	broad.mit.edu	37	8	103299795	103299795	+	Splice_Site	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:103299794_103299794TA>T	uc003ykr.2	-	37	5281	c.4826_splice	c.e37-1	p.G1609_splice	UBR5_uc003yks.2_Splice_Site_p.G1609_splice	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	1609					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TATCACTCCCTAAAAAATACA	0.403												
NSMCE2	286053	broad.mit.edu	37	8	126369982	126369985	+	Frame_Shift_Del	DEL	AAGT	AAGT	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:126369981_126369984AAAGT>A	uc003yrw.2	+	6	775_778	c.547_550AAAGT>A	c.(547-552)aaagtgfs	p.K183fs		NM_173685	NP_775956	Q96MF7	NSE2_HUMAN	Homo sapiens non-SMC element 2, MMS21 homolog (S. cerevisiae) (NSMCE2), mRNA.	183					DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			AGTGAAAAATAAAGTGTGTGGCCA	0.461												
MAPK15	225689	broad.mit.edu	37	8	144803823	144803823	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:144803822_144803822GC>G	uc003yzj.3	+	11	1349	c.1308_1308GC>G	c.(1306-1308)gcgfs	p.A436fs		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	436					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	p.A435fs*57(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CGAAGGAAGCGCCCCCCTTGA	0.647												
PLEC	5339	broad.mit.edu	37	8	144993120	144993121	+	In_Frame_Ins	INS	-	-	GAT			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:144993119_144993120C>CGAT	uc003zaf.1	-	31	11450_11451	c.11280_11281G>ATCG	c.(11278-11283)atcgag>atATCGag	p.E3761S	PLEC_uc003zab.1_In_Frame_Ins_p.E3624S|PLEC_uc003zac.1_In_Frame_Ins_p.E3628S|PLEC_uc003zad.2_In_Frame_Ins_p.E3624S|PLEC_uc003zae.1_In_Frame_Ins_p.E3592S|PLEC_uc003zag.1_In_Frame_Ins_p.E3602S|PLEC_uc003zah.2_In_Frame_Ins_p.E3610S|PLEC_uc003zaj.2_In_Frame_Ins_p.E3651S	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3761	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCAATGATCTCGATGATGATGA	0.614												
SPATC1	375686	broad.mit.edu	37	8	145095784	145095784	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:145095783_145095783GC>G	uc011lkw.2	+	2	1183	c.1081_1081GC>G	c.(1081-1083)gccfs	p.A361fs	SPATC1_uc011lkx.2_Frame_Shift_Del_p.A361fs	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	361										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCCCAGGGTGCCCCCCATCC	0.657												
CPSF1	29894	broad.mit.edu	37	8	145626214	145626214	+	Splice_Site	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr8:145626213_145626213TG>T	uc003zcj.3	-	7	615	c.540_splice	c.e7-1	p.G180_splice	CPSF1_uc003zck.1_Splice_Site_p.G102_splice|CPSF1_uc011lle.1_Splice_Site_p.G180_splice|CPSF1_uc022bco.1_5'Flank|CPSF1_uc011llf.1_Splice_Site_p.G180_splice	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	180					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GACCTCTGCCTGGGGGGCCAG	0.662												
CNTLN	54875	broad.mit.edu	37	9	17484353	17484353	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:17484352_17484352TA>T	uc003zmz.2	+	23	3938	c.3912_3912TA>T	c.(3910-3912)cttfs	p.L1304fs	CNTLN_uc003zmy.3_Frame_Shift_Del_p.L1305fs|CNTLN_uc010mio.3_Frame_Shift_Del_p.L984fs	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	1305						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TAAGAGAGCTTAAAAAAATGA	0.398												
TAF1L	138474	broad.mit.edu	37	9	32633584	32633585	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:32633583_32633584C>CT	uc003zrg.1	-	0	2084_2085	c.1994_1995G>AG	c.(1993-1995)aagfs	p.K665fs	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	665					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|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity	p.K665fs*4(4)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCATCTTGGCCTTTTTTTTGAT	0.480												
UBAP2	55833	broad.mit.edu	37	9	33944640	33944640	+	Splice_Site	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:33944639_33944639TA>T	uc003ztq.1	-	14	1384	c.1271_splice	c.e14-1	p.D424_splice	UBAP2_uc011loc.1_Splice_Site_p.D333_splice|UBAP2_uc011lod.1_Splice_Site_p.D157_splice|UBAP2_uc011loe.1_Splice_Site_p.D179_splice|UBAP2_uc011lof.1_Splice_Site_p.D349_splice|UBAP2_uc011log.1_Splice_Site_p.D370_splice|UBAP2_uc003ztr.2_Splice_Site_p.D296_splice|UBAP2_uc003zts.3_Splice_Site_p.D57_splice	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA.	424										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ATTTGAAGTCTAAAAAAAGTA	0.438												
ALDH1A1	216	broad.mit.edu	37	9	75542080	75542080	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:75542079_75542079TA>T	uc004ajd.3	-	4	774	c.457_457TA>A	c.(457-459)acafs	p.T153fs	ALDH1A1_uc011lsh.2_Frame_Shift_Del_p.T74fs|ALDH1A1_uc011lsg.2_5'Flank	NM_000689	NP_000680	P00352	AL1A1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A1 (ALDH1A1), mRNA.	153					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	Ras GTPase activator activity|aldehyde dehydrogenase (NAD) activity|androgen binding|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CTTGTATATGTAAAAAAATTT	0.299												
PRUNE2	158471	broad.mit.edu	37	9	79267523	79267525	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:79267522_79267524GAGA>G	uc010mpk.3	-	10	8556_8558	c.8432_8434TCTC>C	c.(8431-8436)tctctg>tCtg	p.L2812del	PRUNE2_uc011lsk.2_In_Frame_Del_p.L61del|PRUNE2_uc011lsl.2_In_Frame_Del_p.L76del|PRUNE2_uc011lsm.2_In_Frame_Del_p.L76del|PRUNE2_uc004akj.4_In_Frame_Del_p.L265del|PRUNE2_uc022big.1_Non-coding_Transcript|PRUNE2_uc010mpl.1_In_Frame_Del_p.L265del	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2812					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTTGGTCCAGAGAAAGATTGAT	0.414												
VPS13A	23230	broad.mit.edu	37	9	79875051	79875052	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:79875050_79875051T>TA	uc004akr.3	+	22	2597_2598	c.2337_2338T>TA	c.(2335-2340)gataaafs	p.D779fs	VPS13A_uc004akp.4_Frame_Shift_Ins_p.D779fs|VPS13A_uc004akq.4_Frame_Shift_Ins_p.D779fs|VPS13A_uc004aks.3_Frame_Shift_Ins_p.D779fs	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	779					Golgi to endosome transport|protein transport	intracellular	protein binding	p.D779H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAATCTCAGATAAAAAACTACA	0.297												
ERP44	23071	broad.mit.edu	37	9	102780583	102780583	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:102780582_102780582GT>G	uc004bam.3	-	6	809	c.601_601AC>C	c.(601-603)ccgfs	p.P201fs	ERP44_uc010msy.3_Non-coding_Transcript	NM_015051	NP_055866	Q9BS26	ERP44_HUMAN	Homo sapiens endoplasmic reticulum protein 44 (ERP44), mRNA.	201					cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	ER-Golgi intermediate compartment|endoplasmic reticulum lumen|endoplasmic reticulum membrane	protein binding|protein disulfide isomerase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						TATCTTTCCGGTTTTGAAACA	0.323												
C9orf84	158401	broad.mit.edu	37	9	114490016	114490017	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:114490015_114490016G>GT	uc004bfr.3	-	10	1674_1675	c.1539_1540C>AC	c.(1537-1542)aaacaafs	p.K513fs	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Frame_Shift_Ins_p.K474fs|C9orf84_uc010mug.3_Frame_Shift_Ins_p.K459fs	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	513								p.S514P(1)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCATTCTCTTGTTTTTTGCCAT	0.337												
C9orf80	58493	broad.mit.edu	37	9	115456516	115456516	+	Splice_Site	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:115456515_115456515TA>T	uc004bgg.3	-	3	203	c.26_splice	c.e3-1	p.G9_splice	C9orf80_uc010muk.3_Splice_Site	NM_021218	NP_067041	Q9NRY2	SOSSC_HUMAN	Homo sapiens chromosome 9 open reading frame 80 (C9orf80), mRNA.	9					DNA repair|response to ionizing radiation	SOSS complex	protein binding	p.?(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	4						TTTGAAAACCTAAAAAAAAGA	0.348												
CDK5RAP2	55755	broad.mit.edu	37	9	123230141	123230144	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:123230140_123230143CTGTT>C	uc004bkf.3	-	17	2282_2285	c.2101_2104AACAG>G	c.(2101-2106)acagagfs	p.T701fs	CDK5RAP2_uc004bke.3_Frame_Shift_Del_p.T18fs|CDK5RAP2_uc004bkg.3_Frame_Shift_Del_p.T701fs|CDK5RAP2_uc011lxw.2_5'UTR|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_5'UTR|CDK5RAP2_uc011lya.2_5'UTR|CDK5RAP2_uc004bkh.1_Frame_Shift_Del_p.T700fs|CDK5RAP2_uc004bki.3_Frame_Shift_Del_p.T500fs	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	701					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TTTCTTACCTCTGTTTGTTCTGTA	0.441												
CRAT	1384	broad.mit.edu	37	9	131857690	131857690	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:131857689_131857689CG>C	uc004bxh.3	-	13	2150	c.1868_1868CG>G	c.(1867-1869)cggfs	p.R623fs	CRAT_uc004bxk.4_Frame_Shift_Del_p.R602fs	NM_000755	NP_000746	P43155	CACP_HUMAN	Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	623					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GAGCTTGGCCCGGGGGTGGCT	0.677												
POMT1	10585	broad.mit.edu	37	9	134390827	134390827	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:134390826_134390826GC>G	uc004cav.3	+	12	1457	c.1255_1255GC>G	c.(1255-1257)gccfs	p.A419fs	POMT1_uc004cax.3_Frame_Shift_Del_p.A397fs|POMT1_uc011mcj.2_Frame_Shift_Del_p.A175fs|POMT1_uc004cau.3_Frame_Shift_Del_p.A397fs|POMT1_uc004caw.3_Frame_Shift_Del_p.A343fs|POMT1_uc011mck.2_Frame_Shift_Del_p.A280fs|POMT1_uc011mcl.2_Frame_Shift_Del_p.A245fs|POMT1_uc011mcm.2_Frame_Shift_Del_p.A367fs	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA.	419	MIR 2.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TGATGTTGCAGCCCCCCTGAG	0.507												
BRD3	8019	broad.mit.edu	37	9	136918529	136918530	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:136918528_136918529C>CG	uc004cew.3	-	1	259_260	c.71_72G>CG	c.(70-72)ccgfs	p.P24fs	BRD3_uc004cex.2_Frame_Shift_Ins_p.P24fs	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	24						nucleus	protein binding	p.P24fs*24(1)	BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TGGAGACCTCCGGGGGGGGTGG	0.658			T	C15orf55	lethal midline carcinoma of young people							
ENTPD2	954	broad.mit.edu	37	9	139945517	139945517	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:139945516_139945516AC>A	uc004ckw.2	-	4	666	c.612_612GT>T	c.(610-612)ggtfs	p.G204fs	ENTPD2_uc004ckv.2_5'Flank|ENTPD2_uc022bqb.1_5'Flank|ENTPD2_uc004ckx.2_Frame_Shift_Del_p.G204fs	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 2 (ENTPD2), transcript variant 1, mRNA.	204						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGGTAGAGGCACCCCCCAGGT	0.647												
DPP7	29952	broad.mit.edu	37	9	140005118	140005118	+	Frame_Shift_Del	DEL	C	C	-	rs11391519		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr9:140005117_140005117GC>G	uc004clh.3	-	12	1492	c.1462_1462GC>C	c.(1462-1464)cccfs	p.P488fs		NM_013379	NP_037511	Q9UHL4	DPP2_HUMAN	Homo sapiens dipeptidyl-peptidase 7 (DPP7), mRNA.	488						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		CTGAGTCTGGGCCCCCCACGC	0.647												
FRMD4A	55691	broad.mit.edu	37	10	13696452	13696452	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:13696451_13696451TG>T	uc001ims.3	-	22	3367	c.3015_3015CA>A	c.(3013-3015)ccafs	p.P1005fs	PRPF18_uc001imq.3_Intron|FRMD4A_uc009xjf.1_Frame_Shift_Del_p.P1005fs	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	1005	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGGCTGCTTGGGGGGGTGG	0.532												
PTER	9317	broad.mit.edu	37	10	16526546	16526546	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:16526545_16526545GA>G	uc001iog.1	+	2	369	c.162_162GA>G	c.(160-162)atgfs	p.M54fs	PTER_uc001ioh.1_Frame_Shift_Del_p.M54fs|PTER_uc001ioi.1_Frame_Shift_Del_p.M54fs|PTER_uc009xjp.1_Frame_Shift_Del_p.M54fs	NM_030664	NP_109589	Q96BW5	PTER_HUMAN	Homo sapiens phosphotriesterase related (PTER), transcript variant 2, mRNA.	54					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						CTATCGTGATGAAAAATTTAT	0.423												
KIF5B	3799	broad.mit.edu	37	10	32311826	32311826	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:32311825_32311825AT>A	uc001iwe.4	-	15	2335	c.1865_1865AT>T	c.(1864-1866)atgfs	p.M622fs		NM_004521	NP_004512	P33176	KINH_HUMAN	Homo sapiens kinesin family member 5B (KIF5B), mRNA.	622					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				ATTTTCTTCCATTTTTTTGTT	0.348			T	"""RET, ALK"""	NSCLC							
JMJD1C	221037	broad.mit.edu	37	10	64966978	64966978	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:64966977_64966977CT>C	uc001jmn.3	-	9	4752	c.4452_4452AG>G	c.(4450-4452)aagfs	p.K1484fs	JMJD1C_uc001jml.3_Frame_Shift_Del_p.K1265fs|JMJD1C_uc001jmm.3_Frame_Shift_Del_p.K1196fs|JMJD1C_uc010qiq.2_Frame_Shift_Del_p.K1302fs|JMJD1C_uc009xpi.3_Frame_Shift_Del_p.K1302fs|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Frame_Shift_Del_p.K521fs	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	1484					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			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CTGCCTTGTGCTTTTTTAAAT	0.433												
ACSL5	51703	broad.mit.edu	37	10	114154784	114154786	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr10:114154783_114154785ATCT>A	uc001kzu.3	+	1	359_361	c.247_249ATCT>A	c.(247-249)atc>A	p.I83del	ACSL5_uc001kzs.3_In_Frame_Del_p.I27del|ACSL5_uc001kzt.3_In_Frame_Del_p.I27del|ACSL5_uc009xxz.3_In_Frame_Del_p.I27del	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	27					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TGGAGCTGCCATCTTCTTGTGGC	0.448												
OR2AG2	338755	broad.mit.edu	37	11	6789899	6789899	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:6789898_6789898AC>A	uc001meq.1	-	0	291	c.291_291GT>T	c.(289-291)tgtfs	p.C97fs		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 2 (OR2AG2), mRNA.	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCTGAAGTGCACAGCCTCCAA	0.532												
ST5	6764	broad.mit.edu	37	11	8752619	8752619	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:8752618_8752618TG>T	uc001mgt.3	-	2	405	c.219_219CA>A	c.(217-219)ccafs	p.P73fs	ST5_uc009yfr.3_Intron|ST5_uc001mgu.3_Intron|ST5_uc001mgv.3_Frame_Shift_Del_p.P73fs|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Frame_Shift_Del_p.P73fs	NM_213618	NP_998783	P78524	ST5_HUMAN	Homo sapiens suppression of tumorigenicity 5 (ST5), transcript variant 3, mRNA.	73	Pro-rich.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GTGAAGGAGCTGGGGGGTGCC	0.597												
IPO7	10527	broad.mit.edu	37	11	9450087	9450088	+	Splice_Site	INS	-	-	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:9450086_9450087G>GA	uc001mho.3	+	13	1478	c.1336_splice	c.e13-1	p.K446_splice	SNORA23_uc001mhp.1_5'Flank	NM_006391	NP_006382	O95373	IPO7_HUMAN	Homo sapiens importin 7 (IPO7), mRNA.	446					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	Ran GTPase binding|protein transporter activity|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TATATTTACAGAAAAAGATCTA	0.297												
DBX1	120237	broad.mit.edu	37	11	20178177	20178177	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:20178176_20178176CG>C	uc021qez.1	-	3	733	c.730_730CG>G	c.(730-732)ggafs	p.G244fs	DBX1_uc021qey.1_Intron	NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	Homo sapiens developing brain homeobox 1 (DBX1), mRNA.	223					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						TCAGGGGCTCCGGGGGACGCA	0.632												
PAMR1	25891	broad.mit.edu	37	11	35513670	35513670	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:35513669_35513669AC>A	uc001mwf.3	-	2	346	c.303_303GT>T	c.(301-303)ggtfs	p.G101fs	PAMR1_uc001mwg.3_Frame_Shift_Del_p.G101fs|PAMR1_uc010rew.2_Frame_Shift_Del_p.G101fs|PAMR1_uc010rex.2_Frame_Shift_Del_p.G61fs	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATG	0.522												
PHF21A	51317	broad.mit.edu	37	11	45967495	45967496	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:45967494_45967495T>TG	uc001ncc.4	-	13	1969_1970	c.1345_1346A>CA	c.(1345-1347)caafs	p.Q449fs	PHF21A_uc001ncb.4_Intron|PHF21A_uc009ykx.3_Intron|PHF21A_uc001nce.2_Frame_Shift_Ins_p.Q450fs|PHF21A_uc001nca.1_Frame_Shift_Ins_p.Q185fs	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA.	449					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						ATGACTGGATTGGGGGGATGTT	0.525												
C11orf49	79096	broad.mit.edu	37	11	47074021	47074021	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:47074020_47074020AT>A	uc001ndr.3	+	2	337	c.231_231AT>A	c.(229-231)tcafs	p.S77fs	C11orf49_uc001nds.3_Frame_Shift_Del_p.S77fs|C11orf49_uc001ndq.3_Frame_Shift_Del_p.S77fs|C11orf49_uc001ndp.3_Frame_Shift_Del_p.S77fs|C11orf49_uc010rgx.2_5'UTR|C11orf49_uc010rgy.2_Frame_Shift_Del_p.S68fs|C11orf49_uc010rgz.2_Intron	NM_001003677	NP_001003677	Q9H6J7	CK049_HUMAN	Homo sapiens chromosome 11 open reading frame 49 (C11orf49), transcript variant 2, mRNA.	77										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						ATAGGGTATCATTTTTACGGG	0.448												
OR5B17	219965	broad.mit.edu	37	11	58125922	58125922	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:58125921_58125921CA>C	uc010rke.2	-	0	622	c.622_622TG>G	c.(622-624)gcafs	p.A208fs		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ACAAGAAGTGCAAAAAAGACA	0.378												
C11orf9	745	broad.mit.edu	37	11	61533640	61533640	+	Frame_Shift_Del	DEL	G	G	-	rs143922330		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:61533639_61533639CG>C	uc001nsc.1	+	2	440	c.344_344CG>C	c.(343-345)ccgfs	p.P115fs	C11orf9_uc001nse.1_Frame_Shift_Del_p.P106fs	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	115	Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						AAGCCCTTCCCGGGGGGCACC	0.706												
LGALS12	85329	broad.mit.edu	37	11	63278568	63278569	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:63278567_63278568G>GC	uc001nxc.2	+	5	958_959	c.617_618G>GC	c.(616-618)agcfs	p.S206fs	LGALS12_uc001nxa.2_Frame_Shift_Ins_p.S205fs|LGALS12_uc001nxb.2_Intron|LGALS12_uc001nxd.2_Frame_Shift_Ins_p.S144fs|LGALS12_uc001nxe.2_Intron|LGALS12_uc009yot.2_Frame_Shift_Ins_p.S165fs	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.	205					apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CTGCTGATGAGCCCCAGGCTGG	0.554												
DNAJC4	3338	broad.mit.edu	37	11	64000186	64000186	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:64000185_64000185AC>A	uc001nyt.3	+	3	801	c.378_378AC>A	c.(376-378)acafs	p.T126fs	AX747192_uc001nyr.1_5'Flank|DNAJC4_uc001nys.3_Frame_Shift_Del_p.T125fs|DNAJC4_uc001nyu.3_Frame_Shift_Del_p.T125fs|VEGFB_uc001nyx.3_5'Flank|VEGFB_uc001nyw.3_5'Flank			Q9NNZ3	DNJC4_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 4 (DNAJC4), mRNA.	125					protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding	p.A125V(1)		endometrium(1)|lung(1)|prostate(1)	3						GCTCCTGGACACCCCCCAACG	0.577												
SF3B2	10992	broad.mit.edu	37	11	65836146	65836147	+	Splice_Site	INS	-	-	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:65836145_65836146C>CA	uc001ogy.1	+	22	2657	c.2617_splice	c.e22-1	p.Q873_splice	PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.2_5'Flank	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	873					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCCTATACAGCAAAAAAAACGG	0.515											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
INPPL1	3636	broad.mit.edu	37	11	71948209	71948210	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:71948208_71948209G>GC	uc001osf.3	+	25	3067_3068	c.2920_2921G>GC	c.(2920-2922)gccfs	p.A974fs	INPPL1_uc001osg.3_Frame_Shift_Ins_p.A732fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	974	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding	p.P977fs*7(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGGGGTGGCGGCCCCCCCACCC	0.634												
PGM2L1	283209	broad.mit.edu	37	11	74082034	74082034	+	Splice_Site	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:74082033_74082033TA>T	uc001ovb.1	-	4	683	c.387_splice	c.e4-1	p.R129_splice		NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN	Homo sapiens phosphoglucomutase 2-like 1 (PGM2L1), mRNA.	129					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					TTAGCAAGCCTAAAAAAAGAG	0.343												
C1QTNF5	114902	broad.mit.edu	37	11	119210190	119210191	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr11:119210189_119210190G>GC	uc001pwj.2	-	14	3379_3380	c.583_584C>GC	c.(583-585)gccfs	p.A195fs		NM_015645	NP_056460	Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	147	CUB 1.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCTCACCATGGCCCCCCCCGAG	0.589												
CHD4	1108	broad.mit.edu	37	12	6701715	6701715	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:6701714_6701714CA>C	uc001qpo.3	-	18	2957	c.2793_2793TG>G	c.(2791-2793)ttgfs	p.L931fs	CHD4_uc001qpn.3_Frame_Shift_Del_p.L924fs|CHD4_uc001qpp.3_Frame_Shift_Del_p.L928fs	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	931					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CAAACTCCTCCAAAAAACCTT	0.438												
COL2A1	1280	broad.mit.edu	37	12	48375934	48375936	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:48375933_48375935CCAA>C	uc001rqu.3	-	34	2491_2493	c.2310_2312TTGG>G	c.(2308-2313)gttggt>gtGt	p.G771del	COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_In_Frame_Del_p.G702del	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	771	Triple-helical region.		G -> A (in ACG2).|G -> D (in ACG2).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GCCTTTCTCACCAACGTCACCCT	0.621												
MLL2	8085	broad.mit.edu	37	12	49434005	49434005	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:49434004_49434004TG>T	uc001rta.4	-	30	7549	c.7549_7549CA>A	c.(7549-7551)aatfs	p.N2517fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2517	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CGGACAAAATTGGGGGGCTGC	0.662			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
SLC11A2	4891	broad.mit.edu	37	12	51392999	51392999	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:51392998_51392998CA>C	uc001rxk.2	-	7	771	c.721_721TG>G	c.(721-723)ggcfs	p.G241fs	SLC11A2_uc001rxd.4_Frame_Shift_Del_p.G61fs|SLC11A2_uc001rxf.3_Non-coding_Transcript|SLC11A2_uc001rxe.4_Frame_Shift_Del_p.G212fs|SLC11A2_uc001rxc.4_Frame_Shift_Del_p.G212fs|SLC11A2_uc010smx.2_Frame_Shift_Del_p.G208fs|SLC11A2_uc001rxh.2_Frame_Shift_Del_p.G212fs|SLC11A2_uc010smy.2_Frame_Shift_Del_p.G175fs|SLC11A2_uc001rxj.2_Frame_Shift_Del_p.G212fs|SLC11A2_uc001rxi.3_Frame_Shift_Del_p.G212fs	NM_001174125	NP_001167596	P49281	NRAM2_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 (SLC11A2), transcript variant 1, mRNA.	212					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						ATGAGAAAGCCAAAAAATGCT	0.413												
STAT6	6778	broad.mit.edu	37	12	57499094	57499094	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:57499093_57499093TG>T	uc009zpg.3	-	8	991	c.989_989CA>A	c.(988-990)cagfs	p.Q330fs	STAT6_uc009zpe.3_Frame_Shift_Del_p.Q281fs|STAT6_uc001sna.3_Frame_Shift_Del_p.Q281fs|STAT6_uc009zpf.3_Frame_Shift_Del_p.Q281fs|STAT6_uc010srb.2_Frame_Shift_Del_p.Q171fs|STAT6_uc010src.2_Frame_Shift_Del_p.Q171fs|STAT6_uc010srd.2_Frame_Shift_Del_p.Q171fs	NM_001178081	NP_001171552	P42226	STAT6_HUMAN	Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.	281					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CTTCAGTACCTGGGGGGGCTG	0.637												
GLI1	2735	broad.mit.edu	37	12	57860075	57860075	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:57860074_57860074TG>T	uc001snx.3	+	7	908	c.814_814TG>T	c.(814-816)tggfs	p.W272fs	GLI1_uc021qzi.1_Frame_Shift_Del_p.W231fs|GLI1_uc009zpq.3_Frame_Shift_Del_p.W144fs	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	272					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			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTG	0.597												
MBD6	114785	broad.mit.edu	37	12	57922311	57922311	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:57922310_57922310AC>A	uc001soj.1	+	9	3011	c.2787_2787AC>A	c.(2785-2787)ccafs	p.P929fs	MBD6_uc001sok.1_Frame_Shift_Del_p.P797fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	929						chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCAAGGATCCACCCCCTCCCG	0.582												
VSIG10	54621	broad.mit.edu	37	12	118511707	118511707	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:118511706_118511706AG>A	uc001tws.3	-	4	1351	c.1017_1017CT>T	c.(1015-1017)cctfs	p.P339fs		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA.	339	Ig-like C2-type 4.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GGATCTTGGCAGGGGGGTAGG	0.597												
MSI1	4440	broad.mit.edu	37	12	120800903	120800904	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr12:120800902_120800903G>GC	uc001tye.1	-	5	409_410	c.345_346C>GC	c.(343-348)gggctgfs	p.G115fs		NM_002442	NP_002433	O43347	MSI1H_HUMAN	Homo sapiens musashi homolog 1 (Drosophila) (MSI1), mRNA.	115	RRM 2.				nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACCGACAGCCCCCCCACAA	0.564												
BRCA2	675	broad.mit.edu	37	13	32910761	32910762	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:32910760_32910761GAA>G	uc001uub.1	+	10	2495_2496	c.2268_2269GAA>G	c.(2266-2271)cagaaafs	p.Q756fs		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	756	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTCAATCCCAGAAAAGTCTTTT	0.371			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)		
SPG20	23111	broad.mit.edu	37	13	36909272	36909272	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:36909271_36909271CA>C	uc001uvn.3	-	2	967	c.697_697TG>G	c.(697-699)gtafs	p.V233fs	SPG20_uc010ten.2_Frame_Shift_Del_p.V233fs|SPG20_uc001uvm.3_Frame_Shift_Del_p.V233fs|SPG20_uc001uvo.3_Frame_Shift_Del_p.V233fs|SPG20_uc001uvq.3_Frame_Shift_Del_p.V233fs|SPG20_uc001uvp.2_Frame_Shift_Del_p.V233fs	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	233					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		GCAGGATTTACAAAAAAAATC	0.438												
KBTBD6	89890	broad.mit.edu	37	13	41705322	41705323	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:41705321_41705322G>GC	uc001uxu.1	-	0	1615_1616	c.1326_1327C>GC	c.(1324-1329)gggcgafs	p.G442fs	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	442							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.470												
DGKH	160851	broad.mit.edu	37	13	42773803	42773803	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:42773802_42773802GA>G	uc001uyl.2	+	18	2453	c.2386_2386GA>G	c.(2386-2388)gaafs	p.E796fs	DGKH_uc010tfh.2_Frame_Shift_Del_p.E796fs|DGKH_uc001uym.2_Frame_Shift_Del_p.E796fs|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Frame_Shift_Del_p.E551fs|DGKH_uc001uyo.2_Frame_Shift_Del_p.E660fs|DGKH_uc010tfj.2_Frame_Shift_Del_p.E660fs|DGKH_uc001uyp.3_Non-coding_Transcript	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA.	796					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GGAGCACCCTGAAAAATGCAG	0.289												
MYCBP2	23077	broad.mit.edu	37	13	77638832	77638833	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:77638831_77638832A>AT	uc021rks.1	-	72	12857_12858	c.12590_12591T>AT	c.(12589-12591)aatfs	p.N4197fs	MYCBP2_uc010aev.3_Frame_Shift_Ins_p.N3563fs|MYCBP2_uc001vke.3_Frame_Shift_Ins_p.N776fs	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	4159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTGCAATAGCATTTTTTGTCAC	0.376												
MYO16	23026	broad.mit.edu	37	13	109318382	109318383	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:109318381_109318382C>CT	uc010agk.2	+	1	798_799	c.176_177C>CT	c.(175-177)gctfs	p.A59fs	MYO16_uc001vqt.1_Frame_Shift_Ins_p.A37fs	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	37					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CGCGAGAAGGCTTTTCAGAAGC	0.530												
COL4A1	1282	broad.mit.edu	37	13	110859230	110859230	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:110859229_110859229CT>C	uc001vqw.4	-	13	912	c.790_790AG>G	c.(790-792)ggtfs	p.G264fs		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	264	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCAGGTTCACCTTTTTGGCCC	0.343												
RASA3	22821	broad.mit.edu	37	13	114780718	114780720	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr13:114780717_114780719GAGA>G	uc001vui.3	-	13	1502_1504	c.1371_1373TCTC>C	c.(1369-1374)ttctcc>ttCc	p.S458del	RASA3_uc010tkk.2_In_Frame_Del_p.S426del|RASA3_uc001vuj.3_In_Frame_Del_p.S75del	NM_007368	NP_031394	Q14644	RASA3_HUMAN	Homo sapiens RAS p21 protein activator 3 (RASA3), mRNA.	458	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|calcium-release channel activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CTCCCGGAGGGAGAAGAAGATGT	0.616												
OR10G3	26533	broad.mit.edu	37	14	22038071	22038071	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:22038070_22038070AG>A	uc010tmb.2	-	0	806	c.806_806CT>T	c.(805-807)ctgfs	p.L269fs		NM_001005465	NP_001005465	Q8NGC4	O10G3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 3 (OR10G3), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		TGCCCCATCCAGGGGGCTGTT	0.572												
TRIM9	114088	broad.mit.edu	37	14	51561516	51561516	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:51561515_51561515TG>T	uc001wyx.4	-	0	908	c.143_143CA>A	c.(142-144)cagfs	p.Q48fs	TRIM9_uc001wyy.2_Frame_Shift_Del_p.Q48fs|TRIM9_uc001wyz.4_Frame_Shift_Del_p.Q48fs	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	48					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CCGATGGCTCTGGGGGGATTC	0.612												
DCAF5	8816	broad.mit.edu	37	14	69588976	69588976	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:69588975_69588975CA>C	uc001xkp.3	-	1	536	c.317_317TG>G	c.(316-318)tgcfs	p.C106fs	DCAF5_uc001xkq.3_Frame_Shift_Del_p.C106fs|DCAF5_uc001xkr.4_Frame_Shift_Del_p.C106fs|DCAF5_uc001xks.2_Frame_Shift_Del_p.C106fs	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), nuclear gene encoding mitochondrial protein, mRNA.	106						CUL4 RING ubiquitin ligase complex		p.C106fs*10(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GAAAGCCAGGCAAAAAATGTT	0.488												
COX8C	341947	broad.mit.edu	37	14	93814398	93814398	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:93814397_93814397GT>G	uc001ybt.1	+	1	228	c.150_150GT>G	c.(148-150)gtgfs	p.V50fs	UNC79_uc001ybs.1_Intron	NM_182971	NP_892016	Q7Z4L0	COX8C_HUMAN	Homo sapiens cytochrome c oxidase subunit VIIIC (COX8C), nuclear gene encoding mitochondrial protein, mRNA.	50						integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity			large_intestine(1)|lung(1)|prostate(2)|skin(1)	5		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		GACTTGTGGTGTTTTTTACGA	0.453												
ATG2B	55102	broad.mit.edu	37	14	96794874	96794874	+	Splice_Site	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr14:96794873_96794873CT>C	uc001yfi.3	-	14	2340	c.1975_splice	c.e14-1	p.G659_splice		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	659										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CTTGATTACCCTTTTAAAAAA	0.294												
MGA	23269	broad.mit.edu	37	15	42019391	42019392	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:42019390_42019391CAG>C	uc010ucy.2	+	9	3624_3625	c.3443_3444CAG>C	c.(3442-3444)acafs	p.T1148fs	MGA_uc010ucz.2_Frame_Shift_Del_p.T1148fs	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1148						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ATATGTGAGACAGAGCCTGAAC	0.421												
GANC	2595	broad.mit.edu	37	15	42632113	42632114	+	Splice_Site	INS	-	-	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:42632112_42632113T>TA	uc001zpi.3	+	17	2401	c.2087_splice	c.e17+2	p.R696_splice		NM_198141	NP_937784	Q8TET4	GANC_HUMAN	Homo sapiens glucosidase, alpha; neutral C (GANC), mRNA.	696					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		TGTCATGAGGTAAAAAAGCTTC	0.450												
B2M	567	broad.mit.edu	37	15	45003781	45003782	+	Frame_Shift_Del	DEL	CT	CT	-	rs11553044		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:45003780_45003781ACT>A	uc001zuc.3	+	0	96_97	c.36_37ACT>A	c.(34-39)ctactcfs	p.L12fs	B2M_uc010uek.1_Frame_Shift_Del_p.L12fs|B2M_uc010bdx.1_Frame_Shift_Del_p.L12fs	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	12					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding	p.L15fs*41(4)|p.A11fs*42(2)|p.L13F(2)|p.L12Q(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TGCTCGCGCTACTCTCTCTTTC	0.614												
SCAMP2	10066	broad.mit.edu	37	15	75140996	75140997	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:75140995_75140996C>CA	uc002azb.1	-	6	753_754	c.679_680G>TG	c.(679-681)tgtfs	p.C227fs	SCAMP2_uc002aza.1_Frame_Shift_Ins_p.C77fs	NM_005697	NP_005688	O15127	SCAM2_HUMAN	Homo sapiens secretory carrier membrane protein 2 (SCAMP2), mRNA.	227					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding	p.C227fs*3(2)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						CCCTATTTGACAAAAAAATACA	0.490												
CSPG4	1464	broad.mit.edu	37	15	75974705	75974705	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:75974704_75974704TG>T	uc002baw.3	-	7	4973	c.4880_4880CA>A	c.(4879-4881)cagfs	p.Q1627fs		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	1627	Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	p.P1626L(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCGGCCTAGCTGGGGGCCCCG	0.667												
AKAP13	11214	broad.mit.edu	37	15	86287017	86287017	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:86287016_86287016GA>G	uc002blv.1	+	35	8522	c.8352_8352GA>G	c.(8350-8352)gagfs	p.E2784fs	AKAP13_uc002blu.1_Frame_Shift_Del_p.E2788fs|AKAP13_uc002blw.1_Frame_Shift_Del_p.E1249fs|AKAP13_uc002blx.1_Frame_Shift_Del_p.E1029fs	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	2784	Interaction with ESR1.|Poly-Lys.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AAAAGAAGGAGAAAAAAAAGA	0.547												
SEMA4B	10509	broad.mit.edu	37	15	90771824	90771824	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr15:90771823_90771823GC>G	uc002boy.3	+	14	2745	c.2462_2462GC>G	c.(2461-2463)tgcfs	p.C821fs	SEMA4B_uc002boz.3_Frame_Shift_Del_p.C821fs|SEMA4B_uc010uqd.2_Frame_Shift_Del_p.C659fs|SEMA4B_uc002bpa.3_Frame_Shift_Del_p.C659fs	NM_020210	NP_945119			Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B (SEMA4B), transcript variant 1, mRNA.									p.C821fs*>1(2)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TCCCCAGTGTGCCCCCGGCCC	0.637												
MKL2	57496	broad.mit.edu	37	16	14328066	14328066	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:14328065_14328065TC>T	uc010uza.2	+	8	911	c.756_756TC>T	c.(754-756)cctfs	p.P252fs	MKL2_uc002dcg.3_Frame_Shift_Del_p.P252fs|MKL2_uc002dch.3_Frame_Shift_Del_p.P241fs|MKL2_uc010uzb.2_Frame_Shift_Del_p.P201fs	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	241					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGATCAGCCTCCCCCACGGC	0.527												
BFAR	51283	broad.mit.edu	37	16	14749041	14749042	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:14749040_14749041G>GC	uc002dco.3	+	4	1037_1038	c.756_757G>GC	c.(754-759)aagcccfs	p.K252fs	BFAR_uc010uzh.2_Frame_Shift_Ins_p.K124fs	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	Homo sapiens bifunctional apoptosis regulator (BFAR), mRNA.	252					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding	p.Q255fs*7(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						TAGGCGTGAAGCCCCCCCAGAA	0.361												
GTF3C1	2975	broad.mit.edu	37	16	27549214	27549215	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:27549213_27549214A>AT	uc002dov.2	-	3	683_684	c.643_644T>AT	c.(643-645)attfs	p.I215fs	GTF3C1_uc002dou.3_Frame_Shift_Ins_p.I215fs	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	215						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTTGTTCAAAATTTTTCTGTGA	0.450												
SRCAP	10847	broad.mit.edu	37	16	30736371	30736372	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:30736370_30736371G>GC	uc002dze.1	+	24	6010_6011	c.5625_5626G>GC	c.(5623-5628)cagcccfs	p.Q1875fs	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Ins_p.Q1670fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1875	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCGACGCCAGCCCCCCCCACC	0.569												
PHKB	5257	broad.mit.edu	37	16	47614272	47614272	+	Splice_Site	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:47614271_47614271TA>T	uc002eev.4	+	8	826	c.774_splice	c.e8+2	p.Q258_splice	PHKB_uc002eeu.4_Splice_Site_p.Q251_splice	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	258					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GGCAACCAGGTAAAAAATAAG	0.323												
RPGRIP1L	23322	broad.mit.edu	37	16	53679760	53679760	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:53679759_53679759CA>C	uc002ehp.3	-	16	2525	c.2461_2461TG>G	c.(2461-2463)gatfs	p.D821fs	RPGRIP1L_uc002eho.4_Frame_Shift_Del_p.D821fs|RPGRIP1L_uc010vgy.2_Frame_Shift_Del_p.D821fs|RPGRIP1L_uc010cbx.3_Frame_Shift_Del_p.D821fs|RPGRIP1L_uc010vgz.1_Frame_Shift_Del_p.D821fs	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	821	C2 2.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCTGCAAAATCAAAAAACTTG	0.418												
CDH5	1003	broad.mit.edu	37	16	66423351	66423352	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr16:66423350_66423351C>CG	uc002eom.4	+	4	862_863	c.706_707C>CG	c.(706-708)cggfs	p.R236fs	CDH5_uc002eon.1_Frame_Shift_Ins_p.R236fs	NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	236	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CCAGGGCCTCCGGGGGGACTCG	0.579												
PRPF8	10594	broad.mit.edu	37	17	1579567	1579567	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:1579566_1579566TG>T	uc002fte.3	-	16	2601	c.2487_2487CA>A	c.(2485-2487)ccafs	p.P829fs		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	829						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding	p.P829Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TATAGGAGAGTGGGGGGAATG	0.522												
SGSM2	9905	broad.mit.edu	37	17	2279017	2279019	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:2279016_2279018AGAG>A	uc002fum.4	+	17	2508_2510	c.2331_2333AGAG>A	c.(2329-2334)gaagag>gaAg	p.777_778EE>E	SGSM2_uc002fun.4_In_Frame_Del_p.732_733EE>E|SGSM2_uc010vqw.2_In_Frame_Del_p.732_733EE>E|SGSM2_uc002fuq.3_5'Flank	NM_014853	NP_055668	O43147	SGSM2_HUMAN	Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA.	732	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		TGGGCTTCGAAGAGGAGGACGGC	0.645												
MYBBP1A	10514	broad.mit.edu	37	17	4444821	4444832	+	In_Frame_Del	DEL	CTGCGCCTTGGT	CTGCGCCTTGGT	-	rs146114729		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:4444820_4444831GCTGCGCCTTGGT>G	uc002fxz.4	-	23	3286_3297	c.3224_3235ACCAAGGCGCAGC>C	c.(3223-3237)accaaggcgcagcat>aCat	p.KAQH1076del	MYBBP1A_uc002fyb.4_In_Frame_Del_p.KAQH1076del|MYBBP1A_uc002fya.4_In_Frame_Del_p.KAQH21del|MYBBP1A_uc010vsa.2_In_Frame_Del_p.KAQH118del	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	1076					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	p.A1077A(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GCCTGCTGATGCTGCGCCTTGGTCTGCGCCTC	0.627												
NLRP1	22861	broad.mit.edu	37	17	5462268	5462268	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:5462267_5462267CT>C	uc002gci.3	-	3	2304	c.1749_1749AG>G	c.(1747-1749)aagfs	p.K583fs	NLRP1_uc002gcg.1_Frame_Shift_Del_p.K583fs|NLRP1_uc002gch.4_Frame_Shift_Del_p.K583fs|NLRP1_uc002gck.3_Frame_Shift_Del_p.K583fs|NLRP1_uc002gcj.3_Frame_Shift_Del_p.K583fs|NLRP1_uc002gcl.3_Frame_Shift_Del_p.K583fs|NLRP1_uc010clh.3_Frame_Shift_Del_p.K583fs	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	583	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.K582T(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TGAAAAGGGTCTTTTTTTGCC	0.532												
ACAP1	9744	broad.mit.edu	37	17	7249758	7249759	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:7249757_7249758ACT>A	uc002ggd.2	+	11	1160_1161	c.954_955ACT>A	c.(952-957)aaactcfs	p.K318fs		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	318	PH.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GCACAGTGAAACTCTGCCCTGA	0.530											OREG0024135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ARHGEF15	22899	broad.mit.edu	37	17	8215907	8215908	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:8215906_8215907GGA>G	uc002glc.3	+	1	704_705	c.549_550GGA>G	c.(547-552)ggggagfs	p.G183fs	ARHGEF15_uc002glb.2_Frame_Shift_Del_p.G183fs|ARHGEF15_uc002gld.3_Frame_Shift_Del_p.G183fs|ARHGEF15_uc010vuw.2_Frame_Shift_Del_p.G183fs	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	183					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						ATGTGAATGGGGAGAGAGAAGC	0.649												
RAI1	10743	broad.mit.edu	37	17	17696716	17696716	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:17696715_17696715GC>G	uc002grm.3	+	2	922	c.453_453GC>G	c.(451-453)gtgfs	p.V151fs	RAI1_uc002grn.1_Frame_Shift_Del_p.V151fs	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	151						cytoplasm|nucleus	zinc ion binding	p.V151M(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGACAGCAGTGCCCCCCAGCA	0.652												
SHMT1	6470	broad.mit.edu	37	17	18259317	18259317	+	Splice_Site	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:18259316_18259316TA>T	uc002gta.3	-	2	172	c.-18_splice	c.e2-1		SHMT1_uc002gtb.3_Splice_Site|SHMT1_uc010vxt.2_Splice_Site|SHMT1_uc002gtd.1_Splice_Site|SHMT1_uc010vxu.1_Splice_Site	NM_004169	NP_004160	P34896	GLYC_HUMAN	Homo sapiens serine hydroxymethyltransferase 1 (soluble) (SHMT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.						L-serine catabolic process|carnitine biosynthetic process|folic acid metabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CGAAGCTGCCTAAAAAAATGG	0.408												
EPN2	22905	broad.mit.edu	37	17	19216468	19216468	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:19216467_19216467TC>T	uc002gvd.4	+	6	1470	c.1022_1022TC>T	c.(1021-1023)ctcfs	p.L341fs	EPN2_uc010cql.1_Frame_Shift_Del_p.L50fs|EPN2_uc002gve.4_Frame_Shift_Del_p.L284fs|EPN2_uc002gvf.4_Frame_Shift_Del_p.L56fs|EPN2_uc010vyo.2_Frame_Shift_Del_p.L49fs|EPN2_uc002gvh.1_Frame_Shift_Del_p.L341fs|EPN2_uc010vyp.2_Frame_Shift_Del_p.L277fs|EPN2_uc010vyq.2_Frame_Shift_Del_p.L278fs|EPN2_uc002gvj.3_Frame_Shift_Del_p.L4fs	NM_014964	NP_001096134	O95208	EPN2_HUMAN	Homo sapiens epsin 2 (EPN2), transcript variant 2, mRNA.	341					endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					ATGGATGCTCTCCCCAGCTCG	0.592												
KIAA0100	9703	broad.mit.edu	37	17	26966334	26966334	+	Splice_Site	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:26966333_26966333CT>C	uc002hbu.3	-	11	1332	c.1229_splice	c.e11+1	p.R410_splice	KIAA0100_uc002hbv.3_Frame_Shift_Del_p.R410fs	NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	410						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCAGACTGACCTTTTTTTCCT	0.433												
NF1	4763	broad.mit.edu	37	17	29486057	29486057	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:29486056_29486056AT>A	uc002hgg.3	+	2	616	c.233_233AT>A	c.(232-234)aatfs	p.N78fs	NF1_uc002hge.2_Frame_Shift_Del_p.N78fs|NF1_uc002hgf.2_Frame_Shift_Del_p.N78fs|NF1_uc002hgh.3_Frame_Shift_Del_p.N78fs|NF1_uc010csn.2_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	78					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCTGAAAAAAATTTATATCTC	0.328			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
DDX52	11056	broad.mit.edu	37	17	35986851	35986851	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:35986850_35986850CG>C	uc002hoi.2	-	6	960	c.916_916CG>G	c.(916-918)ggafs	p.G306fs	DDX52_uc002hoh.2_Frame_Shift_Del_p.G198fs	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 (DDX52), mRNA.	306	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				AGGTCGATTCCGGGGGGATCT	0.303												
BRCA1	672	broad.mit.edu	37	17	41246532	41246532	+	Frame_Shift_Del	DEL	T	T	-	rs80357911		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:41246531_41246531CT>C	uc002icq.3	-	9	1249	c.1017_1017AG>G	c.(1015-1017)aagfs	p.K339fs	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Frame_Shift_Del_p.K268fs|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Frame_Shift_Del_p.K292fs|BRCA1_uc002ict.3_Frame_Shift_Del_p.K339fs|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Frame_Shift_Del_p.K339fs|BRCA1_uc002ide.1_Frame_Shift_Del_p.K170fs|BRCA1_uc010cyy.1_Frame_Shift_Del_p.K339fs|BRCA1_uc010whs.1_Frame_Shift_Del_p.K339fs|BRCA1_uc010cyz.2_Frame_Shift_Del_p.K292fs|BRCA1_uc010cza.2_Frame_Shift_Del_p.K313fs|BRCA1_uc010wht.1_Frame_Shift_Del_p.K43fs	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	339					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCAGATCTACCTTTTTTTCTG	0.438			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)		
TMUB2	79089	broad.mit.edu	37	17	42266704	42266704	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:42266703_42266703CG>C	uc002ifo.3	+	2	506	c.349_349CG>C	c.(349-351)cggfs	p.R117fs	C17orf65_uc002ifn.3_5'Flank|TMUB2_uc002ifp.3_Frame_Shift_Del_p.R97fs|TMUB2_uc010wiu.2_Intron|TMUB2_uc002ifr.3_Intron|TMUB2_uc002ift.3_Frame_Shift_Del_p.R97fs|TMUB2_uc002ifx.3_Intron|TMUB2_uc002ify.3_Intron	NM_001076674	NP_803190	Q71RG4	TMUB2_HUMAN	Homo sapiens transmembrane and ubiquitin-like domain containing 2 (TMUB2), transcript variant 3, mRNA.	117						integral to membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GGGTGAAGGTCGGGGAGACTC	0.607												
ITGB3	3690	broad.mit.edu	37	17	45367089	45367089	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:45367088_45367088GA>G	uc002ilj.3	+	6	1001	c.981_981GA>G	c.(979-981)cagfs	p.Q327fs	ITGB3_uc002ili.1_Frame_Shift_Del_p.Q327fs|ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	327	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	AGCTATCCCAGAAAAACATCA	0.453												
CHAD	1101	broad.mit.edu	37	17	48542692	48542693	+	Frame_Shift_Ins	INS	-	-	G	rs138527449	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:48542691_48542692T>TG	uc010dbr.3	-	2	1100_1101	c.1047_1048A>CA	c.(1045-1050)cccaccfs	p.P349fs	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.3_Frame_Shift_Ins_p.P349fs|ACSF2_uc010dbt.1_5'Flank	NM_001267	NP_001258	O15335	CHAD_HUMAN	Homo sapiens chondroadherin (CHAD), mRNA.	349					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GACCTCTTGGTGGGGAACTTGC	0.589												
ABCC3	8714	broad.mit.edu	37	17	48746874	48746875	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:48746873_48746874CAG>C	uc002isl.3	+	16	2305_2306	c.2225_2226CAG>C	c.(2224-2226)acafs	p.T742fs		NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	742	ABC transporter 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GGGGATCAGACAGAGATTGGAG	0.564												
LPO	4025	broad.mit.edu	37	17	56324946	56324946	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:56324945_56324945TG>T	uc002ivt.3	+	3	587	c.271_271TG>T	c.(271-273)tggfs	p.W91fs	LPO_uc010dco.2_Frame_Shift_Del_p.W91fs|LPO_uc010wnr.1_Intron|LPO_uc010wns.2_Frame_Shift_Del_p.W32fs|LPO_uc010dcp.3_Intron|LPO_uc010dcq.3_5'Flank	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	91					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.W91C(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGGACAGGTGTGGGAGGAGTC	0.572												
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597												
RNF43	54894	broad.mit.edu	37	17	56448298	56448298	+	Frame_Shift_Del	DEL	G	G	-	rs2257205	byFrequency	TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:56448297_56448297CG>C	uc002iwf.3	-	1	2306	c.350_350CG>G	c.(349-351)cgcfs	p.R117fs	RNF43_uc010wnv.2_Intron|RNF43_uc002iwh.4_Frame_Shift_Del_p.R117fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.R117fs|RNF43_uc010dcw.3_5'UTR	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	117			R -> H (in dbSNP:rs2257205).			endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGGCAGGGGCGGGGGGCCCG	0.602												
RPS6KB1	6198	broad.mit.edu	37	17	58024090	58024091	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:58024089_58024090C>CA	uc002ixy.3	+	14	1621_1622	c.1518_1519C>CA	c.(1516-1521)tacaaafs	p.Y506fs	RPS6KB1_uc010ddj.2_Intron|RPS6KB1_uc010wom.2_Frame_Shift_Ins_p.Y453fs|RPS6KB1_uc010won.2_Frame_Shift_Ins_p.Y483fs|RPS6KB1_uc010woo.2_Frame_Shift_Ins_p.Y441fs	NM_003161	NP_003152	P23443	KS6B1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 70kDa, polypeptide 1 (RPS6KB1), mRNA.	506	Autoinhibitory domain.				G1/S transition of mitotic cell cycle|TOR signaling cascade|apoptosis|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity	p.Q509fs*>18(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			CTGGGCCATACAAAAAACAAGC	0.450												
CA4	762	broad.mit.edu	37	17	58234015	58234017	+	In_Frame_Del	DEL	CTT	CTT	-	rs121434552		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:58234014_58234016GCTT>G	uc002iym.4	+	2	300_302	c.206_208GCTT>G	c.(205-210)cgcttc>cGtc	p.F72del	CA4_uc010wou.2_Non-coding_Transcript	NM_000717	NP_000708	P22748	CAH4_HUMAN	Homo sapiens carbonic anhydrase IV (CA4), mRNA.	72					bicarbonate transport|one-carbon metabolic process	ER-Golgi intermediate compartment|anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	AAACTGGGACGCTTCTTCTTCTC	0.571												
MARCH10	162333	broad.mit.edu	37	17	60814349	60814349	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:60814348_60814348TC>T	uc010dds.3	-	6	1280	c.995_995GA>A	c.(994-996)gaafs	p.E332fs	MARCH10_uc010ddr.3_Frame_Shift_Del_p.E294fs|MARCH10_uc002jag.4_Frame_Shift_Del_p.E294fs|MARCH10_uc002jah.2_Frame_Shift_Del_p.E293fs|BC037347_uc002jaj.1_Non-coding_Transcript|BC037347_uc002jak.3_Non-coding_Transcript	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	294							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						AGACTGGGTTTCCTCTTCAGT	0.483												
FTSJ3	117246	broad.mit.edu	37	17	61897648	61897650	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:61897647_61897649CCTT>C	uc002jbz.3	-	17	2300_2302	c.2222_2224AAGG>G	c.(2221-2226)aaggtg>aGtg	p.741_742KV>S	FTSJ3_uc002jca.3_In_Frame_Del_p.741_742KV>S	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA.	741					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	p.K741E(1)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCCTCAGCCACCTTCTTGATGGG	0.562												
BPTF	2186	broad.mit.edu	37	17	65850791	65850791	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:65850790_65850790CA>C	uc002jgf.3	+	1	1409	c.1348_1348CA>C	c.(1348-1350)caafs	p.Q450fs	BPTF_uc002jge.3_Frame_Shift_Del_p.Q450fs|BPTF_uc010wqm.1_Frame_Shift_Del_p.Q450fs	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	450					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGCTGAAATCCAAAAAAATAA	0.433												
ABCA6	23460	broad.mit.edu	37	17	67125767	67125767	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:67125766_67125766TA>T	uc002jhw.1	-	6	1093	c.918_918TA>A	c.(916-918)ttafs	p.L306fs		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	306					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATAAGCCATATAAAAAAAAGA	0.303												
FOXJ1	2302	broad.mit.edu	37	17	74136150	74136150	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:74136149_74136149CG>C	uc002jqx.3	-	1	683	c.328_328CG>G	c.(328-330)gacfs	p.D110fs	LOC100507218_uc002jqy.2_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	Homo sapiens forkhead box J1 (FOXJ1), mRNA.	110					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.D110D(1)		large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			TCCACGTCGTCGGGGGGTGGG	0.706												
RAB40B	10966	broad.mit.edu	37	17	80615775	80615776	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr17:80615774_80615775T>TG	uc002kft.3	-	5	927_928	c.801_802A>CA	c.(799-804)cccaaafs	p.P267fs	RAB40B_uc002kfs.3_Non-coding_Transcript	NM_006822	NP_006813	Q12829	RB40B_HUMAN	Homo sapiens RAB40B, member RAS oncogene family (RAB40B), mRNA.	267					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GTGCAGTTTTTGGGGGGGCTCT	0.584												
THOC1	9984	broad.mit.edu	37	18	215507	215507	+	Splice_Site	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:215506_215506TA>T	uc002kkj.4	-	20	1643	c.1603_splice	c.e20-1	p.P535_splice	THOC1_uc002kkh.4_Splice_Site_p.P159_splice	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	Homo sapiens THO complex 1 (THOC1), mRNA.	535					RNA splicing|apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|signal transduction|transcription, DNA-dependent	THO complex part of transcription export complex|cytoplasm|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				AGAAGGAGGCTAAAAATGAGA	0.368												
SMCHD1	23347	broad.mit.edu	37	18	2718224	2718224	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:2718223_2718223TA>T	uc002klm.4	+	17	2517	c.2328_2328TA>T	c.(2326-2328)tttfs	p.F776fs	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	776					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CTTACTGGTTTAAAAAAATGG	0.274												
SPIRE1	56907	broad.mit.edu	37	18	12453140	12453140	+	Splice_Site	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:12453139_12453139TA>T	uc002kre.3	-	14	1824	c.1777_splice	c.e14-1	p.L593_splice	SPIRE1_uc002krc.3_Splice_Site|SPIRE1_uc010wzw.2_Splice_Site_p.L459_splice|SPIRE1_uc010wzx.2_Splice_Site_p.L382_splice|SPIRE1_uc010wzy.2_Splice_Site_p.L579_splice	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	Homo sapiens spire homolog 1 (Drosophila) (SPIRE1), transcript variant 1, mRNA.	593						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						AAAGCAGAGCTAAAAAATACA	0.338												
HAUS1	115106	broad.mit.edu	37	18	43685174	43685175	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:43685173_43685174T>TA	uc002lbu.3	+	1	124_125	c.44_45T>TA	c.(43-45)ttafs	p.L15fs	ATP5A1_uc002lbt.1_5'Flank|HAUS1_uc002lbv.3_5'UTR	NM_138443	NP_612452	Q96CS2	HAUS1_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 1 (HAUS1), transcript variant 1, mRNA.	15					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						GCTGCGTGGTTAAAAAAAATAT	0.391												
STARD6	147323	broad.mit.edu	37	18	51851166	51851166	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:51851165_51851165GT>G	uc010xdt.2	-	5	560	c.560_560AC>C	c.(559-561)accfs	p.T187fs		NM_139171	NP_631910	P59095	STAR6_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 6 (STARD6), mRNA.	187	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		GGAAGGCATGGTTTTTTCAAT	0.368												
ZNF236	7776	broad.mit.edu	37	18	74617125	74617125	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr18:74617124_74617124GA>G	uc002lmi.3	+	12	2242	c.2044_2044GA>G	c.(2044-2046)gaafs	p.E682fs	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	682					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCATACAGGTGAAAAACCTTT	0.358												
C19orf26	255057	broad.mit.edu	37	19	1231034	1231035	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:1231033_1231034A>AG	uc002lrm.2	-	8	1477_1478	c.1202_1203T>CT	c.(1201-1203)cctfs	p.P401fs		NM_152769	NP_689982	Q8N350	DOS_HUMAN	Homo sapiens chromosome 19 open reading frame 26 (C19orf26), mRNA.	437						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCCGCCTAGGGGGGGGCGA	0.708										HNSCC(14;0.022)		
DAZAP1	26528	broad.mit.edu	37	19	1434830	1434830	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:1434829_1434829CG>C	uc002lsn.3	+	11	1331	c.1142_1142CG>C	c.(1141-1143)tcgfs	p.S381fs	DAZAP1_uc002lsm.3_3'UTR	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	Homo sapiens DAZ associated protein 1 (DAZAP1), transcript variant 2, mRNA.	381	Pro-rich.		S -> T (in a breast cancer sample; somatic mutation).		cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	RNA binding|nucleotide binding	p.S381T(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGCCAGGGTcggggggcccc	0.711												
GNA11	2767	broad.mit.edu	37	19	3118934	3118934	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:3118933_3118933TG>T	uc002lxd.3	+	4	859	c.617_617TG>T	c.(616-618)gtgfs	p.V206fs	DKFZp434J194_uc010xhe.2_5'Flank	NM_002067	NP_002058	P29992	GNA11_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 11 (Gq class) (GNA11), mRNA.	206					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		ATGGTGGATGTGGGGGGCCAG	0.617			Mis		uveal melanoma							
TJP3	27134	broad.mit.edu	37	19	3728677	3728679	+	In_Frame_Del	DEL	GTG	GTG	-	rs150589606		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:3728676_3728678CGTG>C	uc010xhv.2	+	1	180_182	c.180_182CGTG>C	c.(178-183)gacgtg>gaCg	p.V62del	TJP3_uc010xhs.2_In_Frame_Del_p.V43del|TJP3_uc010xht.2_In_Frame_Del_p.V7del|TJP3_uc010xhu.2_In_Frame_Del_p.V52del|TJP3_uc010xhw.2_In_Frame_Del_p.V62del	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	43	PDZ 1.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGTATCTGACGTGGTACCTGGA	0.650												
GTF2F1	2962	broad.mit.edu	37	19	6380419	6380419	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:6380418_6380418CT>C	uc002meq.2	-	12	1713	c.1428_1428AG>G	c.(1426-1428)aagfs	p.K476fs	GTF2F1_uc010xjb.1_Frame_Shift_Del_p.K297fs|GTF2F1_uc010xjc.1_Frame_Shift_Del_p.K391fs	NM_002096	NP_002087	P35269	T2FA_HUMAN	Homo sapiens general transcription factor IIF, polypeptide 1, 74kDa (GTF2F1), mRNA.	476					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	DNA binding|catalytic activity|phosphatase activator activity|transcription coactivator activity|transcription factor binding	p.K476T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						TGGTCTGGAACTTTTTCAGCA	0.582												
MYO1F	4542	broad.mit.edu	37	19	8613002	8613002	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:8613001_8613001AT>A	uc002mkg.3	-	11	1326	c.1188_1188AT>T	c.(1186-1188)aatfs	p.N396fs		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	396	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GCTCGAAGCCATTTTTCTGCA	0.547												
ZNF799	90576	broad.mit.edu	37	19	12501516	12501517	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:12501515_12501516CCA>C	uc010dyt.3	-	3	1900_1901	c.1696_1697TGG>G	c.(1696-1698)ggtfs	p.G566fs	ZNF799_uc002mts.4_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						GAAGGCTTTACCACATTGTTGA	0.406												
ZNF709	163051	broad.mit.edu	37	19	12639171	12639171	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:12639170_12639170AT>A	uc002mty.3	-	2	349	c.139_139AT>T	c.(139-141)tggfs	p.W47fs	ZNF709_uc002mtx.4_Intron	NM_144976	NP_659413	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 564 (ZNF564), mRNA.	47	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TGGTCTTCCCATTTTTTTCCT	0.333												
MAN2B1	4125	broad.mit.edu	37	19	12759984	12759985	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:12759983_12759984G>GC	uc002mub.2	-	19	2478_2479	c.2402_2403C>GC	c.(2401-2403)ggcfs	p.G801fs	MAN2B1_uc010dyv.1_Frame_Shift_Ins_p.G800fs	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	801			G -> D (in AM; no residual enzyme activity).		protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCAGGCTGCTGCCCCCCTGGGA	0.619												
TM6SF2	53345	broad.mit.edu	37	19	19377330	19377331	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:19377329_19377330CCA>C	uc002nmd.1	-	8	943_944	c.893_894TGG>G	c.(892-894)tggfs	p.W298fs	HAPLN4_uc002nmc.3_5'UTR	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	Homo sapiens transmembrane 6 superfamily member 2 (TM6SF2), mRNA.	298						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			ACACCAAGGCCCAGTCTGGAAG	0.579												
ZNF43	7594	broad.mit.edu	37	19	22002026	22002026	+	Splice_Site	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACA	0.383												
MEGF8	1954	broad.mit.edu	37	19	42838298	42838298	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:42838297_42838297TG>T	uc002otl.4	+	2	1125	c.490_490TG>T	c.(490-492)tggfs	p.W164fs	MEGF8_uc002otm.4_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	164	EGF-like 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CGAGCCGGGCTGGGGGGGTCC	0.701												
NOVA2	4858	broad.mit.edu	37	19	46443323	46443324	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:46443322_46443323G>GC	uc002pdv.2	-	3	1325_1326	c.1277_1278C>GC	c.(1276-1278)ggcfs	p.G426fs		NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN	Homo sapiens neuro-oncological ventral antigen 2 (NOVA2), mRNA.	426	KH 3.					nucleus	RNA binding	p.G425W(1)		endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		CCAACGTCTTGCCCCCCTTCCC	0.649												
MAMSTR	284358	broad.mit.edu	37	19	49218106	49218107	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:49218105_49218106T>TG	uc002pkg.2	-	5	547_548	c.485_486A>CA	c.(484-486)ccafs	p.P162fs	MAMSTR_uc002pkf.2_Frame_Shift_Ins_p.P59fs	NM_001130915	NP_872380	Q6ZN01	MASTR_HUMAN	Homo sapiens MEF2 activating motif and SAP domain containing transcriptional regulator (MAMSTR), transcript variant 1, mRNA.	162	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(1)|ovary(1)	2						CCAACTTGTGTGGGGGGGGCGA	0.569												
SLC17A7	57030	broad.mit.edu	37	19	49933806	49933807	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:49933805_49933806T>TG	uc002pnp.3	-	11	1825_1826	c.1653_1654A>CA	c.(1651-1656)cccaggfs	p.P551fs	SLC17A7_uc002pno.3_Frame_Shift_Ins_p.P213fs	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA.	551	Pro-rich.				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GGTGGGGGCCTGGGGGGCTGAA	0.639												
AP2A1	160	broad.mit.edu	37	19	50304647	50304647	+	Splice_Site	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:50304646_50304646GC>G	uc002ppn.3	+	13	1765	c.1554_splice	c.e13-1	p.S518_splice	AP2A1_uc010enj.1_Intron|AP2A1_uc002ppo.3_Splice_Site_p.S518_splice|AP2A1_uc002ppp.1_5'Flank	NM_014203	NP_055018	O95782	AP2A1_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 1 subunit (AP2A1), transcript variant 1, mRNA.	518					Golgi to endosome transport|axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CCTGCACACAGCCCCCCAGTG	0.642												
NAPSA	9476	broad.mit.edu	37	19	50862306	50862307	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:50862305_50862306A>AC	uc002prx.3	-	7	1050_1051	c.997_998T>GT	c.(997-999)gtcfs	p.V333fs	NR1H2_uc002prv.4_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	Homo sapiens napsin A aspartic peptidase (NAPSA), mRNA.	333					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GTTAAACCAGACCCCCCCAAGA	0.530												
IGLON5	402665	broad.mit.edu	37	19	51830417	51830417	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr19:51830416_51830416TC>T	uc002pwc.2	+	5	729	c.729_729TC>T	c.(727-729)gttfs	p.V243fs		NM_001101372	NP_001094842	A6NGN9	IGLO5_HUMAN	Homo sapiens IgLON family member 5 (IGLON5), mRNA.	243	Ig-like C2-type 3.					extracellular region				large_intestine(5)|lung(6)|prostate(1)	12						CCATGGCGGTTCCCCCCGCGG	0.672												
CPXM1	56265	broad.mit.edu	37	20	2775271	2775272	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:2775270_2775271C>CA	uc002wgu.3	-	12	1949_1950	c.1875_1876G>TG	c.(1873-1878)attgcafs	p.I625fs	CPXM1_uc010gas.3_Frame_Shift_Ins_p.I551fs	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	625					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ACCACTCCTGCAATGCCCATGC	0.554												
CD93	22918	broad.mit.edu	37	20	23065992	23065993	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:23065991_23065992T>TC	uc002wsv.3	-	0	986_987	c.838_839A>GA	c.(838-840)gatfs	p.D280fs		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	280	EGF-like 1.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.D280N(2)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GAAGGAGCCATCCCCCCCTTCA	0.629												
APCDD1L	164284	broad.mit.edu	37	20	57036091	57036091	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr20:57036090_57036090AG>A	uc010zzp.1	-	4	1619	c.1295_1295CT>T	c.(1294-1296)ctcfs	p.L432fs	APCDD1L_uc002xze.1_Frame_Shift_Del_p.L421fs	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1-like (APCDD1L), mRNA.	421						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GCTTTGCCCGAGGGGGTCTTG	0.612												
CXADR	1525	broad.mit.edu	37	21	18933045	18933045	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:18933044_18933044TA>T	uc002yki.3	+	4	820	c.596_596TA>T	c.(595-597)gtafs	p.V199fs	CXADR_uc002ykh.2_Intron|CXADR_uc010gld.2_Intron|CXADR_uc010gle.2_Intron|CXADR_uc021whp.1_Intron|CXADR_uc002ykj.2_Frame_Shift_Del_p.V199fs	NM_001338	NP_001329	P78310	CXAR_HUMAN	Homo sapiens coxsackie virus and adenovirus receptor (CXADR), transcript variant 1, mRNA.	199	Ig-like C2-type 2.				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		GTTATATCTGTAAAAAATGCC	0.388												
HMGN1	3150	broad.mit.edu	37	21	40720231	40720231	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:40720230_40720230CT>C	uc002yxo.3	-	3	318	c.114_114AG>G	c.(112-114)aagfs	p.K38fs	HMGN1_uc021wjh.1_5'Flank	NM_004965	NP_004956	P05114	HMGN1_HUMAN	Homo sapiens high mobility group nucleosome binding domain 1 (HMGN1), mRNA.	38					positive regulation of transcription elongation, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding			breast(2)|lung(1)	3		Prostate(19;8.69e-07)				TCGCTGCTGCCTTTTTCGGCT	0.547												
LCA5L	150082	broad.mit.edu	37	21	40794907	40794907	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:40794906_40794906AT>A	uc002yxu.3	-	4	1146	c.833_833AT>T	c.(832-834)atafs	p.I278fs	LCA5L_uc002yxv.3_Frame_Shift_Del_p.I278fs|LCA5L_uc021wji.1_Frame_Shift_Del_p.I140fs|LCA5L_uc002yxw.2_Frame_Shift_Del_p.I278fs|LCA5L_uc002yxy.3_Non-coding_Transcript	NM_152505	NP_689718	O95447	LCA5L_HUMAN	Homo sapiens Leber congenital amaurosis 5-like (LCA5L), mRNA.	278										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				ACAGACCTGTATTTTTTTGTC	0.383												
TRPM2	7226	broad.mit.edu	37	21	45786736	45786737	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:45786735_45786736C>CG	uc010gpt.1	+	3	622_623	c.522_523C>CG	c.(520-525)accgggfs	p.T174fs	TRPM2_uc002zet.1_Frame_Shift_Ins_p.T174fs|TRPM2_uc002zeu.1_Frame_Shift_Ins_p.T174fs|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Frame_Shift_Ins_p.T174fs|TRPM2_uc002zex.1_5'Flank	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	174						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCTCGGTGACCGGGGGGGCCAA	0.609												
KRTAP12-2	353323	broad.mit.edu	37	21	46086510	46086510	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:46086509_46086509AG>A	uc002zfu.3	-	0	336	c.295_295CT>T	c.(295-297)tccfs	p.S99fs	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181684	NP_859012	P59991	KR122_HUMAN	Homo sapiens keratin associated protein 12-2 (KRTAP12-2), mRNA.	99	23 X 5 AA approximate repeats.					keratin filament				central_nervous_system(1)|endometrium(1)|lung(3)	5						GACTGGCAGGAGGGGGCTGCA	0.642												
LSS	4047	broad.mit.edu	37	21	47626623	47626623	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr21:47626622_47626622GC>G	uc002zij.3	-	15	1607	c.1528_1528GC>C	c.(1528-1530)cacfs	p.H510fs	LSS_uc002zil.2_Frame_Shift_Del_p.H510fs|LSS_uc011afv.1_Frame_Shift_Del_p.H499fs|LSS_uc002zik.2_Frame_Shift_Del_p.H430fs	NM_001001438	NP_002331	P48449	ERG7_HUMAN	Homo sapiens lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) (LSS), transcript variant 2, mRNA.	510					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					TCCAGCAAGTGCCCCCCACGC	0.597												
TNRC6B	23112	broad.mit.edu	37	22	40681767	40681767	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:40681766_40681766TC>T	uc011aor.2	+	11	3911	c.3700_3700TC>T	c.(3700-3702)tccfs	p.S1234fs	TNRC6B_uc003aym.3_Frame_Shift_Del_p.S430fs|TNRC6B_uc003ayn.4_Frame_Shift_Del_p.S1124fs|TNRC6B_uc003ayo.3_Frame_Shift_Del_p.S981fs	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1234					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						CCAGTTTATTTCCCCCCAGGT	0.453												
ADSL	158	broad.mit.edu	37	22	40756478	40756478	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:40756477_40756477TG>T	uc003ayp.4	+	6	832	c.773_773TG>T	c.(772-774)ttgfs	p.L258fs	ADSL_uc003ays.4_Frame_Shift_Del_p.L258fs|ADSL_uc010gyb.1_Non-coding_Transcript	NM_000026	NP_000017	P30566	PUR8_HUMAN	Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 1, mRNA.	258					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						CTGGCTAGCTTGGGGGCATCA	0.478												
MKL1	57591	broad.mit.edu	37	22	40816542	40816542	+	Frame_Shift_Del	DEL	G	G	-	rs34028511		TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:40816541_40816541TG>T	uc003ayv.1	-	7	1128	c.921_921CA>A	c.(919-921)ccafs	p.P307fs	MKL1_uc010gyf.1_Frame_Shift_Del_p.P257fs|MKL1_uc003ayw.1_Frame_Shift_Del_p.P307fs|MKL1_uc010gye.1_Frame_Shift_Del_p.P307fs	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	307					positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	p.V308fs*9(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGCTGCGTACTGGGGGGGTCC	0.657			T	RBM15	acute megakaryocytic leukemia							
TCF20	6942	broad.mit.edu	37	22	42609771	42609772	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:42609770_42609771A>AT	uc003bcj.1	-	0	1675_1676	c.1541_1542T>AT	c.(1540-1542)cctfs	p.P514fs	TCF20_uc003bck.1_Frame_Shift_Ins_p.P514fs	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						ACTCTGCCATAGGGGACTTCAG	0.530												
TCF20	6942	broad.mit.edu	37	22	42610776	42610777	+	In_Frame_Ins	INS	-	-	TGC			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:42610775_42610776T>TTGC	uc003bcj.1	-	0	670_671	c.536_537A>GCAA	c.(535-537)caa>cGCAA	p.Q179R	TCF20_uc003bck.1_In_Frame_Ins_p.Q179R	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	179	Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						ACTGCTGGACTTGCTGCTGCTG	0.569												
SBF1	6305	broad.mit.edu	37	22	50898756	50898756	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chr22:50898755_50898755TG>T	uc003blh.3	-	24	3424	c.3229_3229CA>A	c.(3229-3231)agcfs	p.S1077fs	SBF1_uc011arx.2_Frame_Shift_Del_p.S741fs	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1077					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGCTCCCAGCTGGGGGGGTTG	0.647												
PPP2R3B	28227	broad.mit.edu	37	X	302052	302052	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:302051_302051GT>G	uc004cpg.3	-	8	1430	c.1166_1166AC>C	c.(1165-1167)acafs	p.T389fs	PPP2R3B_uc004cpf.3_5'UTR	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', beta (PPP2R3B), mRNA.	389	EF-hand.				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTGGTCGGTGTTTTTTTGTC	0.562												
SH3KBP1	30011	broad.mit.edu	37	X	19560215	19560215	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:19560214_19560214AG>A	uc004czm.3	-	15	2037	c.1721_1721CT>T	c.(1720-1722)ctgfs	p.L574fs	SH3KBP1_uc011mje.2_Frame_Shift_Del_p.L313fs|SH3KBP1_uc011mjf.2_Frame_Shift_Del_p.L336fs|SH3KBP1_uc004czl.3_Frame_Shift_Del_p.L537fs|SH3KBP1_uc010nfm.3_Frame_Shift_Del_p.L19fs	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA.	574					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						AGAGGATGACAGGGGGGAGGG	0.652												
XK	7504	broad.mit.edu	37	X	37587585	37587585	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:37587584_37587584CA>C	uc004ddq.3	+	2	1286	c.1204_1204CA>C	c.(1204-1206)caafs	p.Q402fs		NM_021083	NP_066569	P51811	XK_HUMAN	Homo sapiens X-linked Kx blood group (McLeod syndrome) (XK), mRNA.	402					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				CTGCAGGCAGCAAAAACCCTG	0.468												
CASK	8573	broad.mit.edu	37	X	41519817	41519819	+	Splice_Site	DEL	GAG	GAG	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:41519816_41519818TGAG>T	uc004dfk.4	-	3	280	c.154_splice	c.e3-1	p.M52_splice	CASK_uc004dfl.4_Splice_Site_p.M237_splice|CASK_uc004dfm.4_Splice_Site_p.M237_splice|CASK_uc004dfn.4_Splice_Site_p.M237_splice	NM_003688	NP_003679	O14936	CSKP_HUMAN	Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family) (CASK), transcript variant 1, mRNA.	237	Protein kinase.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						TGGATTCATCTGAGGAGGAGGAA	0.379												
MAOA	4128	broad.mit.edu	37	X	43587520	43587520	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:43587519_43587519CG>C	uc004dfy.3	+	5	784	c.603_603CG>C	c.(601-603)tgcfs	p.C201fs	MAOA_uc011mkw.2_Frame_Shift_Del_p.C68fs	NM_000240	NP_000231	P21397	AOFA_HUMAN	Homo sapiens monoamine oxidase A (MAOA), nuclear gene encoding mitochondrial protein, mRNA.	201					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	TGAAGCAGTGCGGGGGCACCA	0.483												
BHLHB9	80823	broad.mit.edu	37	X	102003967	102003968	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:102003966_102003967G>GA	uc022cbi.1	+	0	43_44	c.43_44G>GA	c.(43-45)gaafs	p.E15fs	BHLHB9_uc010nog.3_Frame_Shift_Ins_p.E15fs|BHLHB9_uc011mrq.2_Frame_Shift_Ins_p.E15fs|BHLHB9_uc011mrr.2_Frame_Shift_Ins_p.E15fs|BHLHB9_uc011mrs.2_Frame_Shift_Ins_p.E15fs|BHLHB9_uc011mrt.2_Frame_Shift_Ins_p.E15fs|BHLHB9_uc004ejo.3_Frame_Shift_Ins_p.E15fs|BHLHB9_uc011mru.2_Frame_Shift_Ins_p.E15fs|BHLHB9_uc011mrv.2_Frame_Shift_Ins_p.E15fs	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN	Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.	15						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGCCAAAACTGAAAAAAAGGCT	0.500												
MORC4	79710	broad.mit.edu	37	X	106228468	106228469	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:106228467_106228468A>AT	uc004emu.4	-	4	807_808	c.532_533T>AT	c.(532-534)atgfs	p.M178fs	MORC4_uc004emp.4_Intron|MORC4_uc004emv.4_Frame_Shift_Ins_p.M178fs|MORC4_uc004emw.4_Intron	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	Homo sapiens MORC family CW-type zinc finger 4 (MORC4), transcript variant 1, mRNA.	178							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GGTAATAATCATTTTTTGTAAA	0.361												
ACSL4	2182	broad.mit.edu	37	X	108902743	108902743	+	Splice_Site	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:108902742_108902742TA>T	uc004eoi.2	-	16	2326	c.1821_splice	c.e16-1	p.S607_splice	ACSL4_uc004eoj.2_Splice_Site_p.S566_splice|ACSL4_uc004eok.2_Splice_Site_p.S566_splice	NM_022977	NP_004449	O60488	ACSL4_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 4 (ACSL4), transcript variant 2, mRNA.	607					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	GACTGATCACTAAAAAAACAG	0.318												
BCORL1	63035	broad.mit.edu	37	X	129190011	129190011	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:129190010_129190010TC>T	uc022cdu.1	+	11	5079	c.5035_5035TC>T	c.(5035-5037)tccfs	p.S1679fs	BCORL1_uc004evc.2_Frame_Shift_Del_p.S515fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1679					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGACGACAGATCCCCCCCAGG	0.607												
HTATSF1	27336	broad.mit.edu	37	X	135593402	135593403	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:135593401_135593402T>TA	uc004ezw.3	+	9	1919_1920	c.1497_1498T>TA	c.(1495-1500)cctaaafs	p.P499fs	HTATSF1_uc004ezx.3_Frame_Shift_Ins_p.P499fs	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	499	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AGGATAGTCCTAAAAAAGAGTC	0.441												
FLNA	2316	broad.mit.edu	37	X	153590824	153590825	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:153590823_153590824G>GC	uc004fkk.2	-	16	2776_2777	c.2527_2528C>GC	c.(2527-2529)gctfs	p.A843fs	FLNA_uc010nuu.1_Frame_Shift_Ins_p.A843fs	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	843					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	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|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)					GTAGCTGCCAGCCCCCCGGGGC	0.599												
F8	2157	broad.mit.edu	37	X	154088725	154088725	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4362-01A-01D-1158-08	TCGA-BR-4362-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c824bccc-3bd3-4e33-ad4b-37018dc74b4e	dc77607d-9541-41dd-a2cb-e9416278f52e	g.chrX:154088724_154088724GA>G	uc004fmt.3	-	24	7054	c.6883_6883TC>C	c.(6883-6885)cagfs	p.Q2295fs	F8_uc004fms.3_Frame_Shift_Del_p.Q160fs	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	2295	F5/8 type C 2.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.Q2295*(3)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|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)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTGCCATTCTGAAAAAAGAGA	0.398