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
LRRC47	57470	broad.mit.edu	37	1	3697831	3697831	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:3697831C>T	uc001akx.1	-	7	1601	c.1573G>A	c.(1573-1575)GAT>AAT	p.D525N		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	525					translation		phenylalanine-tRNA ligase activity|RNA binding			large_intestine(1)|ovary(1)	2	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GAGACTGCATCGGCTTCAGTA	0.443												
H6PD	9563	broad.mit.edu	37	1	9307041	9307041	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:9307041T>C	uc001apt.2	+	3	917	c.644T>C	c.(643-645)CTG>CCG	p.L215P		NM_004285	NP_004276	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase precursor	215	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding				0	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GCGCAGATCCTGCCTTTCCGA	0.607												
PIK3CD	5293	broad.mit.edu	37	1	9778917	9778917	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	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												
CASZ1	54897	broad.mit.edu	37	1	10715762	10715762	+	Missense_Mutation	SNP	C	C	T	rs150917673	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:10715762C>T	uc001aro.2	-	9	1929	c.1609G>A	c.(1609-1611)GTC>ATC	p.V537I	CASZ1_uc001arp.1_Missense_Mutation_p.V537I|CASZ1_uc009vmx.2_Missense_Mutation_p.V561I	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	537					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TGGTAGTAGACGCTGCAGTCG	0.622												
EXOSC10	5394	broad.mit.edu	37	1	11142746	11142746	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:11142746G>A	uc001asa.2	-	10	1329	c.1279C>T	c.(1279-1281)CGC>TGC	p.R427C	EXOSC10_uc001asb.2_Missense_Mutation_p.R427C|EXOSC10_uc009vmy.1_Missense_Mutation_p.R427C	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	exosome component 10 isoform 1	427					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			upper_aerodigestive_tract(1)	1	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CAAACTGACCGTATTCTCCAA	0.488												
PRDM2	7799	broad.mit.edu	37	1	14057532	14057532	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:14057532C>T	uc001avi.2	+	3	903	c.47C>T	c.(46-48)GCT>GTT	p.A16V	PRDM2_uc001avg.2_Missense_Mutation_p.A16V|PRDM2_uc001avh.2_Missense_Mutation_p.A16V|PRDM2_uc001avj.2_RNA	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	16						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAGACCCTGGCTGAGGTACCC	0.512												
SPEN	23013	broad.mit.edu	37	1	16258453	16258453	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:16258453C>T	uc001axk.1	+	11	5922	c.5718C>T	c.(5716-5718)AGC>AGT	p.S1906S	SPEN_uc010obp.1_Silent_p.S1865S	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1906					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)		ATGTAAGGAGCGTCTATGCAA	0.507												
EPHA2	1969	broad.mit.edu	37	1	16464386	16464386	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:16464386C>T	uc001aya.1	-	5	1411	c.1274G>A	c.(1273-1275)CGC>CAC	p.R425H	EPHA2_uc010oca.1_Missense_Mutation_p.R425H	NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	425	Extracellular (Potential).|Fibronectin type-III 1.				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			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		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)	ACGGAAGCTGCGGCTGGTTAC	0.632												
ATP13A2	23400	broad.mit.edu	37	1	17313587	17313587	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:17313587T>C	uc001baa.2	-	26	3227	c.3037A>G	c.(3037-3039)ACC>GCC	p.T1013A	ATP13A2_uc001azz.1_Missense_Mutation_p.T160A|ATP13A2_uc001bab.2_Missense_Mutation_p.T1008A|ATP13A2_uc001bac.2_Missense_Mutation_p.T969A	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	1013	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TGCACGCCGGTCACCAGGACC	0.711												
PADI1	29943	broad.mit.edu	37	1	17566229	17566229	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:17566229A>T	uc001bah.1	+	14	1675	c.1583A>T	c.(1582-1584)AAT>ATT	p.N528I	PADI1_uc010oco.1_Missense_Mutation_p.N85I|PADI1_uc010ocp.1_Missense_Mutation_p.N85I|PADI1_uc010ocq.1_5'UTR|PADI1_uc009vpb.1_5'UTR	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	peptidylarginine deiminase type I	528					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity				0		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AGAAGCATTAATGAGATGCTG	0.532												
CAPZB	832	broad.mit.edu	37	1	19671710	19671710	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:19671710G>A	uc010ocz.1	-	7	1140	c.712C>T	c.(712-714)CAC>TAC	p.H238Y	CAPZB_uc001bce.2_Missense_Mutation_p.H209Y|CAPZB_uc009vpk.2_Missense_Mutation_p.H235Y|CAPZB_uc001bcd.2_Missense_Mutation_p.H197Y	NM_004930	NP_004921	P47756	CAPZB_HUMAN	F-actin capping protein beta subunit	209					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding				0		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		TTGGCTATGTGTGGGGAGCAG	0.567												
TMCO4	255104	broad.mit.edu	37	1	20009604	20009604	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:20009604T>C	uc001bcn.2	-	16	2076	c.1834A>G	c.(1834-1836)ATG>GTG	p.M612V	TMCO4_uc001bcm.2_Missense_Mutation_p.M443V|TMCO4_uc001bco.1_Intron|TMCO4_uc001bcp.1_Intron	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	612						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)		TTGGGGTCCATGCCATGGCTG	0.682												
PLA2G2D	26279	broad.mit.edu	37	1	20442089	20442089	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:20442089T>C	uc001bcz.2	-	3	220	c.203A>G	c.(202-204)GAC>GGC	p.D68G	PLA2G2D_uc009vpo.2_Intron	NM_012400	NP_036532	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID precursor	68		Calcium (By similarity).			inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity				0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATAGCAGCAGTCATGGGTCTG	0.572										Multiple Myeloma(11;0.12)		
NBPF3	84224	broad.mit.edu	37	1	21795231	21795231	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:21795231G>A	uc001ber.2	+	3	534	c.184G>A	c.(184-186)GGC>AGC	p.G62S	NBPF3_uc001bes.2_Missense_Mutation_p.G6S|NBPF3_uc009vqb.2_Missense_Mutation_p.G62S|NBPF3_uc010odm.1_Intron	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	62						cytoplasm				upper_aerodigestive_tract(1)|ovary(1)	2		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGTATCTGCCGGCCCTTGGTC	0.517											OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZBTB40	9923	broad.mit.edu	37	1	22839533	22839533	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:22839533G>A	uc001bft.2	+	13	3089	c.2578G>A	c.(2578-2580)GGG>AGG	p.G860R	ZBTB40_uc001bfu.2_Missense_Mutation_p.G860R|ZBTB40_uc009vqi.1_Missense_Mutation_p.G748R	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	860					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CCTTCACACCGGGGACCGCCC	0.577												
KDM1A	23028	broad.mit.edu	37	1	23409681	23409681	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:23409681C>T	uc001bgi.2	+	19	2532	c.2383C>T	c.(2383-2385)CGA>TGA	p.R795*	KDM1A_uc001bgj.2_Nonsense_Mutation_p.R819*	NM_015013	NP_055828	O60341	KDM1A_HUMAN	lysine-specific histone demethylase 1 isoform b	795	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2						GCCGATTCCACGACTCTTCTT	0.458												
IL22RA1	58985	broad.mit.edu	37	1	24448013	24448013	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:24448013T>C	uc001biq.1	-	7	1046	c.1007A>G	c.(1006-1008)CAG>CGG	p.Q336R	IL22RA1_uc010oeg.1_Missense_Mutation_p.Q268R|IL22RA1_uc009vrb.1_Missense_Mutation_p.Q200R|IL22RA1_uc010oeh.1_Missense_Mutation_p.Q336R	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1 precursor	336	Cytoplasmic (Potential).					integral to membrane	interferon receptor activity			skin(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		GTTGGAGGGCTGGAGGATGGA	0.637												
CD52	1043	broad.mit.edu	37	1	26646688	26646688	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:26646688C>T	uc001bmc.2	+	2	179	c.81C>T	c.(79-81)AAC>AAT	p.N27N	UBXN11_uc001bma.2_5'Flank	NM_001803	NP_001794	P31358	CD52_HUMAN	CD52 antigen precursor	27					elevation of cytosolic calcium ion concentration|respiratory burst	anchored to membrane|integral to plasma membrane|membrane fraction					0		all_cancers(24;5.02e-24)|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;7.56e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0137)|READ - Rectum adenocarcinoma(331;0.0649)	Alemtuzumab(DB00087)	CAGGACAAAACGACACCAGCC	0.403												
AIM1L	55057	broad.mit.edu	37	1	26669262	26669262	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:26669262G>T	uc001bmd.3	-	4	482	c.52C>A	c.(52-54)CTA>ATA	p.L18I		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	18							sugar binding			pancreas(1)	1		all_cancers(24;4.67e-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;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		ACCCTCCTTAGGGAGCCGATG	0.507												
RPS6KA1	6195	broad.mit.edu	37	1	26883502	26883502	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:26883502G>A	uc001bmr.1	+	13	1158	c.995G>A	c.(994-996)CGT>CAT	p.R332H	RPS6KA1_uc010ofe.1_Missense_Mutation_p.R240H|RPS6KA1_uc010off.1_Missense_Mutation_p.R316H|RPS6KA1_uc001bms.1_Missense_Mutation_p.R341H|RPS6KA1_uc009vsl.1_Missense_Mutation_p.R175H	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	332	AGC-kinase C-terminal.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CTATACCGTCGTGAGATCAAG	0.597												
ARID1A	8289	broad.mit.edu	37	1	27094434	27094434	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:27094434C>T	uc001bmv.1	+	11	3515	c.3142C>T	c.(3142-3144)CCT>TCT	p.P1048S	ARID1A_uc001bmt.1_Missense_Mutation_p.P1048S|ARID1A_uc001bmu.1_Missense_Mutation_p.P1048S|ARID1A_uc001bmw.1_Missense_Mutation_p.P665S	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1048	ARID.				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)		GGGTAGGAAACCTCTGGACCT	0.552			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
SLC9A1	6548	broad.mit.edu	37	1	27436202	27436202	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:27436202C>T	uc001bnm.2	-	3	1506	c.880G>A	c.(880-882)GGC>AGC	p.G294S	SLC9A1_uc010ofk.1_5'UTR|SLC9A1_uc001bnn.2_Missense_Mutation_p.G294S	NM_003047	NP_003038	P19634	SL9A1_HUMAN	solute carrier family 9, isoform A1	294	Extracellular (Potential).				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CTCAGGAAGCCGAGGAAGATG	0.612												
HDAC1	3065	broad.mit.edu	37	1	32794717	32794717	+	Nonsense_Mutation	SNP	C	C	T	rs145372036		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:32794717C>T	uc001bvb.1	+	7	748	c.685C>T	c.(685-687)CGA>TGA	p.R229*	HDAC1_uc010ohf.1_Nonsense_Mutation_p.R200*|HDAC1_uc001bvc.1_5'Flank	NM_004964	NP_004955	Q13547	HDAC1_HUMAN	histone deacetylase 1	229	Histone deacetylase.				anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|breast(1)	3		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	CTACCCGCTCCGAGACGGGAT	0.483												
S100PBP	64766	broad.mit.edu	37	1	33318764	33318764	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:33318764C>T	uc001bvz.2	+	6	1386	c.1109C>T	c.(1108-1110)ACG>ATG	p.T370M	S100PBP_uc001bwc.2_Missense_Mutation_p.T370M|S100PBP_uc001bwd.2_RNA	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	S100P binding protein isoform a	370						nucleus	calcium-dependent protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GACCTCACCACGCGGTGAGTG	0.348												
CSMD2	114784	broad.mit.edu	37	1	34046380	34046380	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:34046380G>A	uc001bxn.1	-	49	7395	c.7366C>T	c.(7366-7368)CGG>TGG	p.R2456W	CSMD2_uc001bxm.1_Missense_Mutation_p.R2454W	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2456	CUB 14.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAGCCCTTCCGATTGTAGGCG	0.517												
CSMD2	114784	broad.mit.edu	37	1	34102053	34102053	+	Missense_Mutation	SNP	C	C	T	rs34594465		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:34102053C>T	uc001bxn.1	-	30	4785	c.4756G>A	c.(4756-4758)GGG>AGG	p.G1586R	CSMD2_uc001bxm.1_Missense_Mutation_p.G1626R|CSMD2_uc001bxo.1_Missense_Mutation_p.G499R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1586	Extracellular (Potential).|Sushi 9.					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCGTAGCCCCCGTGGCAGTAG	0.622												
C1orf94	84970	broad.mit.edu	37	1	34666585	34666585	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:34666585C>T	uc001bxs.3	+	3	1051	c.652C>T	c.(652-654)CAG>TAG	p.Q218*	C1orf94_uc001bxt.2_Nonsense_Mutation_p.Q408*	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform b	218							protein binding				0		Myeloproliferative disorder(586;0.0393)				CCCAAGCGGGCAGCCGAGACT	0.592												
DLGAP3	58512	broad.mit.edu	37	1	35334284	35334284	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:35334284G>A	uc001byc.2	-	7	2407	c.2407C>T	c.(2407-2409)CGG>TGG	p.R803W		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	803					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)				ACCTCTGCCCGCAGCATCTTG	0.642												
NCDN	23154	broad.mit.edu	37	1	36029369	36029369	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:36029369C>T	uc001bza.2	+	7	1739	c.1612C>T	c.(1612-1614)CGT>TGT	p.R538C	NCDN_uc001bzb.2_Missense_Mutation_p.R538C|NCDN_uc001bzc.2_Missense_Mutation_p.R521C	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN	neurochondrin isoform 1	538					neuron projection development	cytosol|dendrite|neuronal cell body				large_intestine(2)|pancreas(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTTTCCAGGCGTGACGCCTG	0.527												
C1orf216	127703	broad.mit.edu	37	1	36181448	36181448	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:36181448G>A	uc001bzh.1	-	2	963	c.475C>T	c.(475-477)CGC>TGC	p.R159C		NM_152374	NP_689587	Q8TAB5	CA216_HUMAN	hypothetical protein LOC127703	159										skin(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TCTTTGTAGCGCTCCTGGACT	0.627											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ADPRHL2	54936	broad.mit.edu	37	1	36558054	36558054	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:36558054C>T	uc001bzt.2	+	5	786	c.733C>T	c.(733-735)CGC>TGC	p.R245C	ADPRHL2_uc001bzu.2_Missense_Mutation_p.R91C	NM_017825	NP_060295	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	245						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			pancreas(1)	1		Myeloproliferative disorder(586;0.0393)				ATACTCCAGCCGCCTGAAGAA	0.602												
MACF1	23499	broad.mit.edu	37	1	39823511	39823511	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:39823511A>G	uc010oiu.1	+	9	7340	c.7209A>G	c.(7207-7209)TTA>TTG	p.L2403L	MACF1_uc010ois.1_Silent_p.L1901L|MACF1_uc001cda.1_Silent_p.L1809L|MACF1_uc001cdc.1_Silent_p.L988L|MACF1_uc001cdb.1_Silent_p.L988L	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	3968					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTGGAAACTTAGTAAAGGACA	0.428												
HPCAL4	51440	broad.mit.edu	37	1	40149806	40149806	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:40149806C>T	uc001cdr.2	-	3	301	c.181G>A	c.(181-183)GCC>ACC	p.A61T	HPCAL4_uc010oix.1_Intron	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	hippocalcin-like protein 4	61	EF-hand 2.				central nervous system development	intracellular	calcium ion binding			central_nervous_system(1)	1	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AACTTGGAGGCGTCGCCGTAG	0.692												
SCMH1	22955	broad.mit.edu	37	1	41503057	41503057	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:41503057G>A	uc001cgo.2	-	13	1936	c.1625C>T	c.(1624-1626)GCT>GTT	p.A542V	SCMH1_uc010ojr.1_Missense_Mutation_p.A384V|SCMH1_uc001cgp.2_Missense_Mutation_p.A481V|SCMH1_uc001cgr.2_Missense_Mutation_p.A481V|SCMH1_uc001cgs.2_Missense_Mutation_p.A552V|SCMH1_uc001cgt.2_Missense_Mutation_p.A481V|SCMH1_uc001cgq.2_Missense_Mutation_p.A495V|SCMH1_uc010ojs.1_RNA	NM_001031694	NP_001026864	Q96GD3	SCMH1_HUMAN	sex comb on midleg 1 isoform 1	542					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CCTGCGCACAGCTGAGGCAGT	0.478												
ZMYND12	84217	broad.mit.edu	37	1	42901019	42901019	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:42901019T>C	uc001chj.2	-	6	1025	c.755A>G	c.(754-756)TAT>TGT	p.Y252C	ZMYND12_uc010ojt.1_Missense_Mutation_p.Y142C	NM_032257	NP_115633	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12 isoform 1	252						intracellular	zinc ion binding			ovary(1)	1	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAGGACTTGATAGTGATTGTT	0.478												
TMEM125	128218	broad.mit.edu	37	1	43738712	43738712	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:43738712C>T	uc001cir.2	+	4	889	c.319C>T	c.(319-321)CGC>TGC	p.R107C	EBNA1BP2_uc001cio.2_5'Flank|TMEM125_uc001cis.2_Missense_Mutation_p.R107C	NM_144626	NP_653227	Q96AQ2	TM125_HUMAN	transmembrane protein 125	107			R -> L (in a breast cancer sample; somatic mutation).			integral to membrane		p.R107L(1)		breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCCCTGCTGCGCAGTGGTGG	0.687												
KDM4A	9682	broad.mit.edu	37	1	44137442	44137442	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:44137442G>A	uc001cjx.2	+	11	1796	c.1630G>A	c.(1630-1632)GTG>ATG	p.V544M	KDM4A_uc010oki.1_Intron	NM_014663	NP_055478	O75164	KDM4A_HUMAN	jumonji domain containing 2A	544					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			skin(1)	1						AGTTCTCACTGTGCACAGTTA	0.562												
PLK3	1263	broad.mit.edu	37	1	45270162	45270162	+	Silent	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:45270162G>T	uc001cmn.2	+	12	1594	c.1494G>T	c.(1492-1494)TCG>TCT	p.S498S	PLK3_uc001cmo.2_RNA	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	498	POLO box 1.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity				0	Acute lymphoblastic leukemia(166;0.155)					TGGCCCTGTCGGCCAACAGAA	0.567												
MUTYH	4595	broad.mit.edu	37	1	45799087	45799087	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:45799087G>A	uc001cnm.2	-	3	553	c.337C>T	c.(337-339)CGG>TGG	p.R113W	MUTYH_uc009vxn.2_Intron|MUTYH_uc001cnf.2_Missense_Mutation_p.R88W|MUTYH_uc009vxo.2_Missense_Mutation_p.R88W|MUTYH_uc001cng.2_Missense_Mutation_p.R99W|MUTYH_uc001cnj.2_Translation_Start_Site|MUTYH_uc001cni.2_Missense_Mutation_p.R88W|MUTYH_uc001cnh.2_Missense_Mutation_p.R89W|MUTYH_uc001cno.2_Translation_Start_Site|MUTYH_uc001cnk.2_Translation_Start_Site|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Missense_Mutation_p.R102W|MUTYH_uc009vxp.2_Missense_Mutation_p.R116W|MUTYH_uc001cnn.2_Missense_Mutation_p.R103W	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	mutY homolog isoform 1	113					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding				0	Acute lymphoblastic leukemia(166;0.155)					CTGCCTACCCGTCTTCTCCAT	0.582			Mis			colorectal		BER_DNA_glycosylases	MUTYH-associated_polyposis			
RAD54L	8438	broad.mit.edu	37	1	46736382	46736382	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:46736382G>A	uc009vye.2	+	11	1208	c.1094G>A	c.(1093-1095)CGA>CAA	p.R365Q	RAD54L_uc001cpl.2_Missense_Mutation_p.R365Q|RAD54L_uc001cpm.1_Missense_Mutation_p.R185Q	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN	RAD54-like protein	365					meiosis	nucleus	ATP binding|DNA binding|helicase activity			ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		TTGAAGGGTCGAGACGCTGCT	0.468								Direct_reversal_of_damage|Homologous_recombination				
RNF11	26994	broad.mit.edu	37	1	51736936	51736936	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:51736936G>A	uc001csi.3	+	3	891	c.407G>A	c.(406-408)TGC>TAC	p.C136Y		NM_014372	NP_055187	Q9Y3C5	RNF11_HUMAN	ring finger protein 11	136	RING-type.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	DNA binding|protein binding|zinc ion binding				0						TCCTTCACGTGCCCCTCCTGC	0.473												
NRD1	4898	broad.mit.edu	37	1	52266266	52266266	+	Silent	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:52266266G>T	uc001ctc.3	-	23	2929	c.2607C>A	c.(2605-2607)ACC>ACA	p.T869T	NRD1_uc009vzb.2_Silent_p.T564T|NRD1_uc001ctd.3_Silent_p.T801T|NRD1_uc001cte.2_Silent_p.T737T|NRD1_uc001ctf.2_Silent_p.T801T|NRD1_uc010ong.1_RNA	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	800					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0						TGTTAAAGTAGGTCTTCTTCA	0.398												
MRPL37	51253	broad.mit.edu	37	1	54666207	54666207	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:54666207G>A	uc001cxa.3	+	1	368	c.291G>A	c.(289-291)CCG>CCA	p.P97P	CYB5RL_uc009vzo.2_5'Flank|CYB5RL_uc001cwx.3_5'Flank|CYB5RL_uc001cwy.3_5'Flank|MRPL37_uc009vzp.2_Missense_Mutation_p.R67H|MRPL37_uc001cxb.1_Silent_p.P97P|MRPL37_uc001cxc.3_Intron|MRPL37_uc010oob.1_RNA	NM_016491	NP_057575	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37 precursor	97					translation	mitochondrial ribosome	structural constituent of ribosome				0						ACGAGCATCCGCTGTACAAAG	0.527												
DAB1	1600	broad.mit.edu	37	1	57610998	57610998	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:57610998C>T	uc001cys.1	-	5	846	c.172G>A	c.(172-174)GAC>AAC	p.D58N	DAB1_uc001cyt.1_Missense_Mutation_p.D58N|DAB1_uc001cyq.1_Missense_Mutation_p.D58N|DAB1_uc001cyr.1_Missense_Mutation_p.D58N|DAB1_uc009vzw.1_Missense_Mutation_p.D58N|DAB1_uc009vzx.1_Missense_Mutation_p.D58N	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	58	PID.				cell differentiation|nervous system development					skin(2)|ovary(1)	3						CATAACTTGTCTCCCCGAGCT	0.408												
C1orf87	127795	broad.mit.edu	37	1	60499273	60499273	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:60499273T>C	uc001czs.1	-	7	996	c.904A>G	c.(904-906)AGG>GGG	p.R302G		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	hypothetical protein LOC127795	302							calcium ion binding			ovary(1)|breast(1)	2						AACAGACTCCTGTTCACTTCT	0.473												
NFIA	4774	broad.mit.edu	37	1	61869831	61869831	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:61869831G>A	uc001czw.2	+	8	1615	c.1131G>A	c.(1129-1131)CAG>CAA	p.Q377Q	NFIA_uc001czy.2_Silent_p.Q369Q|NFIA_uc010oos.1_Silent_p.Q422Q|NFIA_uc001czv.2_Silent_p.Q377Q|NFIA_uc001czx.2_Silent_p.Q25Q|NFIA_uc009wae.2_5'Flank	NM_001134673	NP_001128145	Q12857	NFIA_HUMAN	nuclear factor I/A isoform 1	377					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)|skin(1)	2						CCATTATCCAGCAGCCTGGGC	0.507												
INADL	10207	broad.mit.edu	37	1	62594566	62594566	+	Silent	SNP	C	C	T	rs113629200		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:62594566C>T	uc001dab.2	+	41	5334	c.5220C>T	c.(5218-5220)CAC>CAT	p.H1740H	INADL_uc001dac.2_RNA|INADL_uc009wag.2_Silent_p.H524H	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1740	PDZ 10.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						GGCTGTCTCACGCGGATGTGG	0.468												
JAK1	3716	broad.mit.edu	37	1	65323363	65323363	+	Silent	SNP	G	G	A	rs55788790		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:65323363G>A	uc001dbu.1	-	10	1683	c.1434C>T	c.(1432-1434)ACC>ACT	p.T478T	JAK1_uc009wam.1_Silent_p.T466T	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	478	SH2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.T478S(1)|p.T478T(1)		haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)		AGCAGGTGACGGTCATGAGGA	0.542			Mis		ALL							
SYDE2	84144	broad.mit.edu	37	1	85656333	85656333	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:85656333G>A	uc009wcm.2	-	2	897	c.848C>T	c.(847-849)ACT>ATT	p.T283I	SYDE2_uc001dku.3_Missense_Mutation_p.T283I	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2	283					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)		CTTTGAAACAGTGATGCTGTT	0.368												
CLCA2	9635	broad.mit.edu	37	1	86905964	86905964	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:86905964G>T	uc001dlr.3	+	8	1499	c.1337G>T	c.(1336-1338)GGT>GTT	p.G446V		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2 precursor	446	VWFA.|Extracellular (Potential).				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			ovary(1)|breast(1)|skin(1)	3		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ATTGCCCTGGGTTCATCTGCA	0.423												
GBP1	2633	broad.mit.edu	37	1	89520420	89520420	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:89520420T>C	uc001dmx.2	-	10	1830	c.1610A>G	c.(1609-1611)AAC>AGC	p.N537S		NM_002053	NP_002044	P32455	GBP1_HUMAN	guanylate binding protein 1,	537					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GACCCTGTCGTTCTCCATCTT	0.423												
GBP1	2633	broad.mit.edu	37	1	89521715	89521715	+	Missense_Mutation	SNP	G	G	A	rs142020556		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:89521715G>A	uc001dmx.2	-	8	1572	c.1352C>T	c.(1351-1353)CCG>CTG	p.P451L		NM_002053	NP_002044	P32455	GBP1_HUMAN	guanylate binding protein 1,	451					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CCCCTTCCTCGGTTCCTCATA	0.448												
FNBP1L	54874	broad.mit.edu	37	1	93987691	93987691	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:93987691C>T	uc001dpw.2	+	3	193	c.193C>T	c.(193-195)CGG>TGG	p.R65W	FNBP1L_uc001dpv.2_Missense_Mutation_p.R65W	NM_001024948	NP_001020119	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like isoform 1	65	FCH.|Induction of membrane tubulation (By similarity).				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)		TGAAGAGCCACGGTAAATTAC	0.204												
ARHGAP29	9411	broad.mit.edu	37	1	94639435	94639435	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:94639435T>C	uc001dqj.3	-	23	4145	c.3776A>G	c.(3775-3777)CAA>CGA	p.Q1259R	ARHGAP29_uc009wdq.1_Intron	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	PTPL1-associated RhoGAP 1	1259	Interaction with PTPN13/PTPL1.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CTACACAAATTGTGGAATTTC	0.408												
ABCD3	5825	broad.mit.edu	37	1	94955520	94955520	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:94955520T>C	uc001dqn.3	+	15	1413	c.1311T>C	c.(1309-1311)GAT>GAC	p.D437D	ABCD3_uc010oto.1_Silent_p.D461D|ABCD3_uc010otp.1_Silent_p.D364D|ABCD3_uc009wdr.2_Silent_p.D327D|ABCD3_uc001dqo.3_Silent_p.D125D	NM_002858	NP_002849	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D, member 3	437					peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(1)	1		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TTATTGCAGATAACATTATAA	0.318												
EXTL2	2135	broad.mit.edu	37	1	101339853	101339853	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:101339853A>T	uc001dtk.1	-	5	975	c.638T>A	c.(637-639)ATT>AAT	p.I213N	EXTL2_uc001dtl.1_Missense_Mutation_p.I213N|EXTL2_uc010ouk.1_Missense_Mutation_p.I200N|EXTL2_uc001dtm.1_Missense_Mutation_p.I212N	NM_001439	NP_001430	Q9UBQ6	EXTL2_HUMAN	exostoses-like 2	213	Lumenal (Potential).				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			skin(1)	1		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TGAGGCTCCAATCAGCACCAT	0.403												
COL11A1	1301	broad.mit.edu	37	1	103345444	103345444	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:103345444G>T	uc001dul.2	-	66	5387	c.5069C>A	c.(5068-5070)TCC>TAC	p.S1690Y	COL11A1_uc001duk.2_Missense_Mutation_p.S886Y|COL11A1_uc001dum.2_Missense_Mutation_p.S1702Y|COL11A1_uc001dun.2_Missense_Mutation_p.S1651Y|COL11A1_uc009weh.2_Missense_Mutation_p.S1574Y	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1690	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CATATTGATGGAATTTCCTTC	0.383												
VAV3	10451	broad.mit.edu	37	1	108507464	108507464	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:108507464A>G	uc001dvk.1	-	1	82	c.28T>C	c.(28-30)TGG>CGG	p.W10R	VAV3_uc010ouw.1_Missense_Mutation_p.W10R|VAV3_uc001dvl.1_5'Flank|VAV3_uc010oux.1_Missense_Mutation_p.W10R	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	10	CH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(5)|lung(2)|breast(2)	9		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TGGATGAGCCACTGCGCGCAC	0.627												
FNDC7	163479	broad.mit.edu	37	1	109276020	109276020	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:109276020C>T	uc001dvx.2	+	10	2006	c.2006C>T	c.(2005-2007)ACG>ATG	p.T669M	FNDC7_uc010ova.1_Missense_Mutation_p.T436M	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	670	Fibronectin type-III 8.					extracellular region				ovary(1)|skin(1)	2		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GGCATTTTCACGTGCACCCCG	0.517												
RBM15	64783	broad.mit.edu	37	1	110884339	110884339	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:110884339A>G	uc001dzl.1	+	1	2395	c.2312A>G	c.(2311-2313)GAT>GGT	p.D771G	RBM15_uc001dzm.1_Missense_Mutation_p.D771G|uc001dzj.2_5'Flank	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	771					interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAGAAACAGGATGGGGGGACA	0.547			T	MKL1	acute megakaryocytic leukemia							
DCLRE1B	64858	broad.mit.edu	37	1	114454678	114454678	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:114454678G>T	uc001eeg.2	+	4	1635	c.1464G>T	c.(1462-1464)AAG>AAT	p.K488N	DCLRE1B_uc001eeh.2_Intron|DCLRE1B_uc001eei.2_Missense_Mutation_p.K362N	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B (PSO2 homolog, S.	488					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding				0	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		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)		ACAGCAGCAAGGGCACCCCTC	0.532								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function				
AMPD1	270	broad.mit.edu	37	1	115231320	115231320	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:115231320G>A	uc001efe.1	-	3	161	c.77C>T	c.(76-78)GCC>GTC	p.A26V	AMPD1_uc001eff.1_Missense_Mutation_p.A22V	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	26					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|large_intestine(1)|skin(1)	4	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GACTTCAGAGGCAAACACTTT	0.413												
IGSF3	3321	broad.mit.edu	37	1	117156651	117156651	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:117156651C>T	uc001egr.1	-	4	1273	c.568G>A	c.(568-570)GAG>AAG	p.E190K	IGSF3_uc001egq.1_Missense_Mutation_p.E190K	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	190	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ACGGGCTTCTCGCCAACTTTC	0.612												
VTCN1	79679	broad.mit.edu	37	1	117699263	117699263	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:117699263G>A	uc001ehb.2	-	3	450	c.378C>T	c.(376-378)GGC>GGT	p.G126G	VTCN1_uc001ehc.2_Silent_p.G31G|VTCN1_uc009whf.1_Intron	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN	V-set domain containing T cell activation	126	Ig-like V-type 1.|Extracellular (Potential).					integral to membrane|plasma membrane					0	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		ATTTGTAGGTGCCAGCATCTG	0.428												
GDAP2	54834	broad.mit.edu	37	1	118455168	118455168	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:118455168C>T	uc001ehf.2	-	4	753	c.454G>A	c.(454-456)GTA>ATA	p.V152I	GDAP2_uc001ehg.2_Missense_Mutation_p.V152I	NM_017686	NP_060156	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated	152	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)		AGTTGAAGTACGTTTCTGTAG	0.413												
GDAP2	54834	broad.mit.edu	37	1	118461278	118461278	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:118461278G>A	uc001ehf.2	-	3	556	c.257C>T	c.(256-258)TCA>TTA	p.S86L	GDAP2_uc001ehg.2_Missense_Mutation_p.S86L	NM_017686	NP_060156	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated	86	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)		GATACTTTCTGACACAGGATT	0.363												
ADAM30	11085	broad.mit.edu	37	1	120438783	120438783	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:120438783G>A	uc001eij.2	-	1	331	c.177C>T	c.(175-177)GTC>GTT	p.V59V		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30 preproprotein	59					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ACACGGGACTGACCACACCCT	0.522												
PDE4DIP	9659	broad.mit.edu	37	1	144865839	144865839	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:144865839A>G	uc001elw.3	-	35	6032	c.5741T>C	c.(5740-5742)CTT>CCT	p.L1914P	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.L1808P|PDE4DIP_uc001elv.3_Missense_Mutation_p.L921P|PDE4DIP_uc001ema.2_Missense_Mutation_p.L101P	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1914	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)		TTGAGCCTGAAGTCTTCGATT	0.483			T	PDGFRB	MPD							
BCL9	607	broad.mit.edu	37	1	147096003	147096003	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:147096003G>A	uc001epq.2	+	10	4264	c.3524G>A	c.(3523-3525)GGC>GAC	p.G1175D	BCL9_uc010ozr.1_Missense_Mutation_p.G1089D	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1175	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					CCAGGAGAAGGCCCCCTTGGC	0.647			T	IGH@|IGL@	B-ALL							
SV2A	9900	broad.mit.edu	37	1	149884988	149884988	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:149884988G>A	uc001etg.2	-	2	896	c.405C>T	c.(403-405)GGC>GGT	p.G135G	SV2A_uc001eth.2_Silent_p.G135G	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	135	Cytoplasmic (Potential).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CCTCCCCCCGGCCCCCAGGGG	0.662												
SF3B4	10262	broad.mit.edu	37	1	149898338	149898338	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:149898338T>C	uc001etj.1	-	3	687	c.636A>G	c.(634-636)GCA>GCG	p.A212A	SF3B4_uc001eti.1_5'Flank|SF3B4_uc001etk.1_Silent_p.A212A|SF3B4_uc009wll.1_Silent_p.A212A	NM_005850	NP_005841	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4	212						nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GAGGTGCATCTGCAAACAGCT	0.547												
ANXA9	8416	broad.mit.edu	37	1	150958865	150958865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:150958865C>T	uc001ewa.2	+	8	996	c.526C>T	c.(526-528)CAG>TAG	p.Q176*		NM_003568	NP_003559	O76027	ANXA9_HUMAN	annexin A9	176	Annexin 2.				cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity				0	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|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)			TGGCATCTTGCAGGACCTGCT	0.572												
THEM4	117145	broad.mit.edu	37	1	151861728	151861728	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:151861728G>A	uc001ezj.1	-	3	587	c.408C>T	c.(406-408)TGC>TGT	p.C136C	THEM4_uc001ezk.1_RNA	NM_053055	NP_444283	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	136					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|ruffle membrane					0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTTGAAATAAGCAAACCATCC	0.443												
TCHH	7062	broad.mit.edu	37	1	152081809	152081809	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:152081809T>C	uc001ezp.2	-	2	3884	c.3884A>G	c.(3883-3885)GAG>GGG	p.E1295G	TCHH_uc009wne.1_Missense_Mutation_p.E1295G	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1295	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTTCTTCCTCTGGGAAATG	0.552												
FLG	2312	broad.mit.edu	37	1	152283466	152283466	+	Missense_Mutation	SNP	C	C	T	rs150251062	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:152283466C>T	uc001ezu.1	-	3	3932	c.3896G>A	c.(3895-3897)CGG>CAG	p.R1299Q	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1299	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)			tgactgctcccgagaagatcc	0.378									Ichthyosis			
S100A14	57402	broad.mit.edu	37	1	153588311	153588311	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:153588311G>A	uc001fce.2	-	2	122	c.24C>T	c.(22-24)AAC>AAT	p.N8N	S100A16_uc001fcd.1_5'Flank	NM_020672	NP_065723	Q9HCY8	S10AE_HUMAN	S100 calcium binding protein A14	8					calcium ion homeostasis|defense response to bacterium|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|toll-like receptor 4 signaling pathway	cell junction|microtubule cytoskeleton|perinuclear region of cytoplasm	calcium ion binding|chemokine receptor 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)			CCACCTCTGCGTTGGCTGACC	0.577												
CRTC2	200186	broad.mit.edu	37	1	153924897	153924897	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:153924897C>T	uc010ped.1	-	9	798	c.728G>A	c.(727-729)CGG>CAG	p.R243Q	CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_5'UTR	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	243					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)			TTCACAGGACCGAGGTCGGGA	0.532												
AQP10	89872	broad.mit.edu	37	1	154296925	154296925	+	Missense_Mutation	SNP	C	C	T	rs141365858	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:154296925C>T	uc001feu.2	+	6	915	c.875C>T	c.(874-876)GCC>GTC	p.A292V	AQP10_uc001fev.2_3'UTR|ATP8B2_uc001few.2_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	aquaporin 10	292	Extracellular (Potential).				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)	1	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAAACTCCTGCCTCAGCTCAG	0.562											OREG0013832	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CHRNB2	1141	broad.mit.edu	37	1	154544182	154544182	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:154544182C>T	uc001ffg.2	+	5	1147	c.883C>T	c.(883-885)CCG>TCG	p.P295S		NM_000748	NP_000739	P17787	ACHB2_HUMAN	neuronal nicotinic acetylcholine receptor beta 2	295					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	CCTCGACGTGCCGCTCGTCGG	0.607												
ZBTB7B	51043	broad.mit.edu	37	1	154988858	154988858	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:154988858C>T	uc001fgk.3	+	4	1475	c.1317C>T	c.(1315-1317)TTC>TTT	p.F439F	ZBTB7B_uc009wpa.2_Silent_p.F439F|ZBTB7B_uc001fgj.3_Silent_p.F473F|ZBTB7B_uc010peq.1_Silent_p.F473F|ZBTB7B_uc001fgl.3_Silent_p.F439F	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	439	C2H2-type 4; atypical.				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)			ACAAGGCTTTCGCCAAGGAGG	0.647												
CLK2	1196	broad.mit.edu	37	1	155239459	155239459	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:155239459G>A	uc001fjy.2	-	3	509	c.219C>T	c.(217-219)TAC>TAT	p.Y73Y	RAG1AP1_uc010pey.1_Intron|CLK2_uc001fjw.2_Silent_p.Y73Y|CLK2_uc001fjx.2_5'UTR|CLK2_uc009wqm.2_Silent_p.Y73Y	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	73						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGCTGCCACAGTATCGCCGGT	0.488								Other_conserved_DNA_damage_response_genes				
RUSC1	23623	broad.mit.edu	37	1	155292496	155292496	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:155292496G>A	uc001fkj.2	+	2	1161	c.932G>A	c.(931-933)CGG>CAG	p.R311Q	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.R311Q|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank|RUSC1_uc001fks.2_5'Flank	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	311						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)			GTGCCCCACCGGACAATCACG	0.567												
GON4L	54856	broad.mit.edu	37	1	155722380	155722380	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:155722380T>C	uc001flz.2	-	30	5941	c.5844A>G	c.(5842-5844)GCA>GCG	p.A1948A	GON4L_uc001flx.1_5'Flank|GON4L_uc009wrg.1_Splice_Site|GON4L_uc001fly.1_Splice_Site_p.G1948_splice|GON4L_uc009wrh.1_Splice_Site_p.G1948_splice|GON4L_uc001fma.1_Silent_p.A1948A	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	1948					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTGCCAATCCTGCTTAGGAGG	0.502												
VHLL	391104	broad.mit.edu	37	1	156268818	156268818	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:156268818G>A	uc001fok.2	-	1	611	c.163C>T	c.(163-165)CGG>TGG	p.R55W		NM_001004319	NP_001004319	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	55	Beta-domain.				protein ubiquitination	nucleus				ovary(1)	1	Hepatocellular(266;0.158)					ATGATGATCCGGGAGAGCTCG	0.612												
NTRK1	4914	broad.mit.edu	37	1	156844776	156844776	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:156844776C>T	uc001fqh.1	+	11	1386	c.1330C>T	c.(1330-1332)CGG>TGG	p.R444W	NTRK1_uc001fqf.1_Missense_Mutation_p.R408W|NTRK1_uc009wsi.1_Missense_Mutation_p.R143W|NTRK1_uc001fqi.1_Missense_Mutation_p.R438W|NTRK1_uc009wsk.1_Missense_Mutation_p.R438W	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	444	Cytoplasmic (Potential).				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CAAATGTGGACGGAGAAACAA	0.567			T	TPM3|TPR|TFG	papillary thyroid					TSP Lung(10;0.080)		
ARHGEF11	9826	broad.mit.edu	37	1	156925516	156925516	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:156925516G>A	uc001fqo.2	-	19	2667	c.1627C>T	c.(1627-1629)CCC>TCC	p.P543S	ARHGEF11_uc001fqn.2_Missense_Mutation_p.P583S|ARHGEF11_uc001fqp.1_Missense_Mutation_p.P72S	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	543					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGCTTTTGGGCTTCCCAATG	0.498												
FCRL5	83416	broad.mit.edu	37	1	157494244	157494244	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:157494244T>C	uc001fqu.2	-	10	2222	c.2064A>G	c.(2062-2064)CCA>CCG	p.P688P	FCRL5_uc009wsm.2_Silent_p.P688P|FCRL5_uc010phv.1_Silent_p.P688P|FCRL5_uc010phw.1_Silent_p.P603P	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	688	Extracellular (Potential).|Ig-like C2-type 7.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGTACAGGATTGGGGAGGAGC	0.577												
FCRL3	115352	broad.mit.edu	37	1	157665164	157665164	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:157665164C>A	uc001frb.2	-	8	1658	c.1366G>T	c.(1366-1368)GGC>TGC	p.G456C	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.G456C|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.G182C|FCRL3_uc001frc.1_Missense_Mutation_p.G456C	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	456	Ig-like C2-type 5.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					GCCCCCAGGCCATTGTCTGCA	0.532												
FCRL3	115352	broad.mit.edu	37	1	157666067	157666067	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:157666067G>A	uc001frb.2	-	7	1187	c.895C>T	c.(895-897)CTG>TTG	p.L299L	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.L299L|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Silent_p.L25L|FCRL3_uc001frc.1_Silent_p.L299L	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	299	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					CCTTCAATCAGCTGCCCTCCG	0.517												
ATP1A2	477	broad.mit.edu	37	1	160094924	160094924	+	Splice_Site	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:160094924A>G	uc001fvc.2	+	7	763	c.631_splice	c.e7-2	p.V211_splice	ATP1A2_uc001fvb.2_Splice_Site_p.V211_splice|ATP1A2_uc010piz.1_Splice_Site_p.V56_splice|ATP1A2_uc001fvd.2_5'Flank	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein						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)			CTTCCTCCTCAGGTGGATAAC	0.542												
ATP1A4	480	broad.mit.edu	37	1	160156152	160156152	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:160156152C>T	uc001fve.3	+	21	3535	c.3056C>T	c.(3055-3057)CCG>CTG	p.P1019L	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.P522L|ATP1A4_uc001fvh.2_Missense_Mutation_p.P155L	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	1019	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGTCAGCACCCGGATGGTGAG	0.562												
SLAMF6	114836	broad.mit.edu	37	1	160465878	160465878	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:160465878G>T	uc001fwe.1	-	2	415	c.355C>A	c.(355-357)CTG>ATG	p.L119M	SLAMF6_uc001fwd.1_Missense_Mutation_p.L119M|SLAMF6_uc010pjh.1_Missense_Mutation_p.L70M|SLAMF6_uc010pji.1_Intron|SLAMF6_uc010pjj.1_Intron|SLAMF6_uc009wtm.1_Missense_Mutation_p.L70M	NM_052931	NP_443163	Q96DU3	SLAF6_HUMAN	activating NK receptor precursor	119	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TAACTGGACAGCTTTGCAGAG	0.418												
NDUFS2	4720	broad.mit.edu	37	1	161183198	161183198	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:161183198T>G	uc001fyv.2	+	12	1593	c.1145T>G	c.(1144-1146)TTT>TGT	p.F382C	NDUFS2_uc001fyw.2_Missense_Mutation_p.F382C|NDUFS2_uc010pkj.1_Missense_Mutation_p.F331C|NDUFS2_uc001fyx.2_Missense_Mutation_p.F356C|FCER1G_uc001fyz.1_5'Flank|FCER1G_uc001fza.1_5'Flank	NM_004550	NP_004541	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2	382					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			skin(1)	1	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	ATTCATCACTTTAAGTTGTAT	0.483												
FMO3	2328	broad.mit.edu	37	1	171076863	171076863	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:171076863C>T	uc001ghi.2	+	4	480	c.369C>T	c.(367-369)GGC>GGT	p.G123G	FMO3_uc001ghh.2_Silent_p.G123G|FMO3_uc010pmb.1_Silent_p.G103G|FMO3_uc010pmc.1_Silent_p.G60G	NM_001002294	NP_001002294	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	123					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)					CAACTACTGGCCAGTGGGATG	0.393												
RC3H1	149041	broad.mit.edu	37	1	173930312	173930312	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:173930312C>T	uc001gju.3	-	12	2360	c.2273G>A	c.(2272-2274)CGA>CAA	p.R758Q	RC3H1_uc010pms.1_Missense_Mutation_p.R758Q|RC3H1_uc001gjv.2_Missense_Mutation_p.R758Q|RC3H1_uc010pmt.1_Missense_Mutation_p.R758Q	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	758	Pro-rich.				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						TATTTCCTTTCGTCGGCGATG	0.453												
GPR52	9293	broad.mit.edu	37	1	174417414	174417414	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:174417414T>C	uc001gka.1	+	1	203	c.165T>C	c.(163-165)ATT>ATC	p.I55I	RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	55	Helical; Name=1; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1						TTCTGATCATTGCTGGGAATC	0.438												
PAPPA2	60676	broad.mit.edu	37	1	176671867	176671867	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:176671867T>C	uc001gkz.2	+	9	4525	c.3361T>C	c.(3361-3363)TCA>CCA	p.S1121P	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1121					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						TGGGAAGGTGTCAGAGTGAGT	0.318												
LHX4	89884	broad.mit.edu	37	1	180235536	180235536	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:180235536C>T	uc001goe.1	+	3	481	c.258C>T	c.(256-258)GGC>GGT	p.G86G		NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	86	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						GGCGCTTCGGCACAAAATGCA	0.607												
CACNA1E	777	broad.mit.edu	37	1	181706764	181706764	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:181706764G>A	uc001gow.2	+	23	3691	c.3526G>A	c.(3526-3528)GTC>ATC	p.V1176I	CACNA1E_uc009wxs.2_Missense_Mutation_p.V1064I|CACNA1E_uc001gox.1_Missense_Mutation_p.V402I|CACNA1E_uc009wxt.2_Missense_Mutation_p.V402I	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1176	Extracellular (Potential).|III.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						AGAGGACCCCGTCCTGACCAA	0.617												
CACNA1E	777	broad.mit.edu	37	1	181731743	181731743	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:181731743T>C	uc001gow.2	+	33	4804	c.4639T>C	c.(4639-4641)TTC>CTC	p.F1547L	CACNA1E_uc009wxs.2_Missense_Mutation_p.F1435L|CACNA1E_uc001gox.1_Missense_Mutation_p.F773L|CACNA1E_uc009wxt.2_Missense_Mutation_p.F773L	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1547	Helical; Name=S3 of repeat IV.|IV.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TATCTTTGACTTCATCACCGT	0.398												
APOBEC4	403314	broad.mit.edu	37	1	183617241	183617241	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:183617241C>T	uc001gqn.2	-	2	948	c.676G>A	c.(676-678)GCA>ACA	p.A226T	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	226					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding				0						ATTTCATATGCGTTGTGCCTG	0.433												
IVNS1ABP	10625	broad.mit.edu	37	1	185270128	185270128	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:185270128T>C	uc001grl.2	-	10	1719	c.1096A>G	c.(1096-1098)ATG>GTG	p.M366V	IVNS1ABP_uc001gri.2_Missense_Mutation_p.M26V|IVNS1ABP_uc001grj.2_Missense_Mutation_p.M26V|IVNS1ABP_uc009wyj.2_Missense_Mutation_p.M148V|IVNS1ABP_uc009wyk.2_RNA|IVNS1ABP_uc001grm.2_Missense_Mutation_p.M26V	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	366	Sufficient for AHR interaction and signaling.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				ovary(4)|central_nervous_system(1)	5						TTGCCATTCATCTCTGCTGTT	0.433												
HMCN1	83872	broad.mit.edu	37	1	185931751	185931751	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:185931751G>A	uc001grq.1	+	12	2159	c.1930G>A	c.(1930-1932)GCC>ACC	p.A644T	HMCN1_uc001grr.1_5'UTR	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	644	Ig-like C2-type 3.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						ACCAAAGATTGCCTGGACCGT	0.428												
HMCN1	83872	broad.mit.edu	37	1	186092202	186092202	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:186092202C>T	uc001grq.1	+	81	12578	c.12349C>T	c.(12349-12351)CGT>TGT	p.R4117C		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4117	Ig-like C2-type 40.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TAAAGATGGGCGTGCAATTGT	0.512												
HMCN1	83872	broad.mit.edu	37	1	186113746	186113746	+	Missense_Mutation	SNP	G	G	A	rs149329415		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:186113746G>A	uc001grq.1	+	91	14406	c.14177G>A	c.(14176-14178)GGC>GAC	p.G4726D	HMCN1_uc001grs.1_Missense_Mutation_p.G295D	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4726	TSP type-1 4.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AGAACAAGGGGCTGCTCCGAC	0.542												
PRG4	10216	broad.mit.edu	37	1	186276755	186276755	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:186276755C>T	uc001gru.3	+	7	1955	c.1904C>T	c.(1903-1905)ACC>ATC	p.T635I	PRG4_uc001grt.3_Missense_Mutation_p.T594I|PRG4_uc009wyl.2_Missense_Mutation_p.T542I|PRG4_uc009wym.2_Missense_Mutation_p.T501I|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	635	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CTCGCACCCACCACCCCTGAG	0.682												
TPR	7175	broad.mit.edu	37	1	186328983	186328983	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:186328983C>T	uc001grv.2	-	12	1634	c.1337G>A	c.(1336-1338)CGT>CAT	p.R446H	TPR_uc010pop.1_Missense_Mutation_p.R522H	NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	446	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTTCTGTGCACGTTCATATTC	0.368			T	NTRK1	papillary thyroid							
FAM5C	339479	broad.mit.edu	37	1	190129847	190129847	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:190129847G>A	uc001gse.1	-	7	1367	c.1135C>T	c.(1135-1137)CTT>TTT	p.L379F	FAM5C_uc010pot.1_Missense_Mutation_p.L277F	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	379						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					CTCTTGCTAAGGCTAAAAAGC	0.393												
FAM5C	339479	broad.mit.edu	37	1	190129967	190129967	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:190129967A>G	uc001gse.1	-	7	1247	c.1015T>C	c.(1015-1017)TCT>CCT	p.S339P	FAM5C_uc010pot.1_Missense_Mutation_p.S237P	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	339						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					ATTATAGTAGATGTGTTGAGG	0.308												
ASPM	259266	broad.mit.edu	37	1	197098315	197098315	+	Splice_Site	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:197098315A>G	uc001gtu.2	-	9	3017	c.2760_splice	c.e9+1	p.K920_splice	ASPM_uc001gtv.2_Splice_Site_p.K920_splice|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly						mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TGAAAAGCATACCTTGAATTC	0.299												
DENND1B	163486	broad.mit.edu	37	1	197564380	197564380	+	Silent	SNP	A	A	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:197564380A>C	uc001guf.3	-	14	1343	c.1005T>G	c.(1003-1005)GCT>GCG	p.A335A	DENND1B_uc010ppe.1_Silent_p.A315A|DENND1B_uc010ppf.1_RNA|DENND1B_uc001gue.3_Silent_p.A305A	NM_144977	NP_659414	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B isoform 2	335	dDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity				0						CAAACAAAGCAGCCTGTGCTC	0.428												
CACNA1S	779	broad.mit.edu	37	1	201023674	201023674	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:201023674T>G	uc001gvv.2	-	29	3852	c.3625A>C	c.(3625-3627)AGC>CGC	p.S1209R		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1209	IV.|Extracellular (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGTCCCCCGCTGGAGGCCAGG	0.403												
PPP1R12B	4660	broad.mit.edu	37	1	202465946	202465946	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:202465946C>T	uc001gya.1	+	18	2630	c.2486C>T	c.(2485-2487)ACG>ATG	p.T829M	PPP1R12B_uc001gxz.1_Missense_Mutation_p.T829M|PPP1R12B_uc001gyb.1_Missense_Mutation_p.T55M|PPP1R12B_uc001gyc.1_Missense_Mutation_p.T55M	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	829					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)			GTCAAAGAAACGTGGGTAAGT	0.403												
TMEM183A	92703	broad.mit.edu	37	1	202985125	202985125	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:202985125C>T	uc001gyu.1	+	5	623	c.565C>T	c.(565-567)CGA>TGA	p.R189*	TMEM183A_uc009xai.1_Nonsense_Mutation_p.R189*|TMEM183A_uc001gyv.1_RNA|TMEM183A_uc001gyw.1_Nonsense_Mutation_p.R188*|TMEM183A_uc001gyx.1_Nonsense_Mutation_p.R188*	NM_001079809	NP_001073277	Q8IXX5	T183A_HUMAN	transmembrane protein 183B	189						integral to membrane					0			BRCA - Breast invasive adenocarcinoma(75;0.18)			TTTGCGTCTGCGACCAGAGTC	0.502												
FMOD	2331	broad.mit.edu	37	1	203316449	203316449	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:203316449T>C	uc001gzr.2	-	2	1086	c.950A>G	c.(949-951)AAC>AGC	p.N317S	FMOD_uc010pqi.1_RNA	NM_002023	NP_002014	Q06828	FMOD_HUMAN	fibromodulin precursor	317	LRR 10.				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				ovary(2)|breast(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.171)			GAGGTAGAGGTTCTCCAGGTT	0.532												
PIK3C2B	5287	broad.mit.edu	37	1	204400821	204400821	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:204400821A>C	uc001haw.2	-	29	4735	c.4256T>G	c.(4255-4257)CTC>CGC	p.L1419R	PIK3C2B_uc010pqv.1_Missense_Mutation_p.L1391R	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	1419	PX.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AGAAGGGAAGAGCAGCCGCAA	0.542											OREG0014134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PIK3C2B	5287	broad.mit.edu	37	1	204418318	204418318	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:204418318G>T	uc001haw.2	-	15	2820	c.2341C>A	c.(2341-2343)CTG>ATG	p.L781M	PIK3C2B_uc010pqv.1_Missense_Mutation_p.L781M	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	781					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CTCACCTGCAGGATGACACTG	0.552												
SLC41A1	254428	broad.mit.edu	37	1	205766095	205766095	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:205766095G>A	uc001hdh.1	-	8	1901	c.1029C>T	c.(1027-1029)GAC>GAT	p.D343D	SLC41A1_uc001hdg.1_5'Flank|uc001hdi.1_5'Flank	NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 member 1	343						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			skin(2)	2	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CAAAGTTGGGGTCTGAGACAG	0.522												
SRGAP2	23380	broad.mit.edu	37	1	206611390	206611390	+	Silent	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:206611390G>T	uc001hdy.2	+	13	1782	c.1449G>T	c.(1447-1449)CGG>CGT	p.R483R	SRGAP2_uc010prt.1_Silent_p.R406R|SRGAP2_uc001hdx.2_Silent_p.R483R|SRGAP2_uc010pru.1_Silent_p.R406R|SRGAP2_uc010prv.1_Silent_p.R407R	NM_015326	NP_056141	O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	570	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding				0	Breast(84;0.137)					TTTACTTCCGGGGGCTGGAAC	0.552												
CD34	947	broad.mit.edu	37	1	208061172	208061172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:208061172G>A	uc001hgw.1	-	8	1327	c.1069C>T	c.(1069-1071)CGA>TGA	p.R357*	CD34_uc001hgv.1_Nonsense_Mutation_p.R199*|CD34_uc001hgx.1_3'UTR|CD34_uc010psj.1_Nonsense_Mutation_p.R222*	NM_001025109	NP_001020280	P28906	CD34_HUMAN	CD34 antigen isoform a	357	Cytoplasmic (Potential).				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			ovary(1)	1						TGAGCCCCTCGGTTCACACTG	0.592												
SERTAD4	56256	broad.mit.edu	37	1	210411408	210411408	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:210411408G>A	uc001hhy.2	+	2	282	c.103G>A	c.(103-105)GGA>AGA	p.G35R	SERTAD4_uc009xcw.2_Missense_Mutation_p.G35R	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	35							protein binding			ovary(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TGACAGCTACGGAGGCCCAAG	0.602												
TRAF5	7188	broad.mit.edu	37	1	211546014	211546014	+	Silent	SNP	C	C	T	rs147270768	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:211546014C>T	uc001hih.2	+	11	1704	c.1644C>T	c.(1642-1644)GCC>GCT	p.A548A	TRAF5_uc001hii.2_Silent_p.A548A|TRAF5_uc010psx.1_Silent_p.A559A|TRAF5_uc010psy.1_Silent_p.A442A|TRAF5_uc001hij.2_Silent_p.A548A	NM_004619	NP_004610	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	548	MATH.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)|breast(2)|ovary(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TGAAAGTGGCCGTGGACTTAA	0.468												
NEK2	4751	broad.mit.edu	37	1	211843642	211843642	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:211843642G>A	uc001hir.1	-	5	892	c.746C>T	c.(745-747)ACG>ATG	p.T249M	NEK2_uc001hiq.1_Missense_Mutation_p.T249M|NEK2_uc001his.3_Missense_Mutation_p.T249M|NEK2_uc001hit.1_RNA	NM_002497	NP_002488	P51955	NEK2_HUMAN	NIMA-related kinase 2	249	Protein kinase.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TAACATCCTCGTAATAATTTC	0.353												
TMEM206	55248	broad.mit.edu	37	1	212560431	212560431	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:212560431C>T	uc001hjc.3	-	3	313	c.145G>A	c.(145-147)GAG>AAG	p.E49K	TMEM206_uc010pte.1_Missense_Mutation_p.E110K	NM_018252	NP_060722	Q9H813	TM206_HUMAN	transmembrane protein 206	49	Cytoplasmic (Potential).					integral to membrane				breast(1)	1				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		GAGGCGGACTCGCTGTCCAGG	0.587												
CENPF	1063	broad.mit.edu	37	1	214792011	214792011	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:214792011C>T	uc001hkm.2	+	4	629	c.455C>T	c.(454-456)CCA>CTA	p.P152L		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	152	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).|Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTTACAACTCCACTAACACCA	0.353												
CENPF	1063	broad.mit.edu	37	1	214819293	214819293	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:214819293G>A	uc001hkm.2	+	13	6554	c.6380G>A	c.(6379-6381)CGC>CAC	p.R2127H		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2223	Potential.|2-1.|2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.R2127H(1)		ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTGAGAGTTCGCATTGAGGCC	0.498												
SPATA17	128153	broad.mit.edu	37	1	217955552	217955552	+	Missense_Mutation	SNP	C	C	T	rs145142638	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:217955552C>T	uc001hlh.1	+	8	786	c.760C>T	c.(760-762)CGC>TGC	p.R254C	SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Missense_Mutation_p.R254C	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	254						cytoplasm	calmodulin binding			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		ATTAGAACAACGCTACAGGCC	0.458												
RAB3GAP2	25782	broad.mit.edu	37	1	220324711	220324711	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:220324711G>A	uc010puk.1	-	35	4228	c.4064C>T	c.(4063-4065)GCA>GTA	p.A1355V	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.A935V|RAB3GAP2_uc001hmh.2_3'UTR	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	1355					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)		AGCTGTTGTTGCAATTGGCAC	0.368												
DISP1	84976	broad.mit.edu	37	1	223177546	223177546	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:223177546C>T	uc001hnu.1	+	8	2954	c.2807C>T	c.(2806-2808)GCT>GTT	p.A936V		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	936					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		TTCACACTGGCTTATGAAAAG	0.473												
CAPN2	824	broad.mit.edu	37	1	223943271	223943271	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:223943271G>A	uc001hob.3	+	10	1449	c.1225G>A	c.(1225-1227)GTG>ATG	p.V409M	CAPN2_uc010puy.1_Missense_Mutation_p.V331M|CAPN2_uc001hoc.2_5'Flank	NM_001748	NP_001739	P17655	CAN2_HUMAN	calpain 2 isoform 1	409	Domain III.				proteolysis	cytoplasm|plasma membrane				lung(3)|breast(1)|skin(1)	5				GBM - Glioblastoma multiforme(131;0.109)		CACCTTCCTGGTGGGGCTCAT	0.493												
OBSCN	84033	broad.mit.edu	37	1	228509533	228509533	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:228509533C>T	uc009xez.1	+	55	15035	c.14991C>T	c.(14989-14991)AGC>AGT	p.S4997S	OBSCN_uc001hsn.2_Silent_p.S4997S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4997					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)				AAGCCGAGAGCTCCTCTGGGG	0.617												
COG2	22796	broad.mit.edu	37	1	230798937	230798937	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:230798937G>A	uc001htw.2	+	4	502	c.351G>A	c.(349-351)ATG>ATA	p.M117I	COG2_uc001htx.2_Missense_Mutation_p.M117I|COG2_uc010pwc.1_5'UTR	NM_007357	NP_031383	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2 isoform	117					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity				0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				ATGAACGAATGTCTAAACAAG	0.338												
SIPA1L2	57568	broad.mit.edu	37	1	232626723	232626723	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:232626723T>C	uc001hvg.2	-	3	1861	c.1703A>G	c.(1702-1704)GAA>GGA	p.E568G		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	568					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTCCAAAACTTCTTTGAGAGG	0.473												
ACTN2	88	broad.mit.edu	37	1	236902754	236902754	+	Silent	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:236902754C>A	uc001hyf.2	+	10	1233	c.1029C>A	c.(1027-1029)ATC>ATA	p.I343I	ACTN2_uc001hyg.2_Silent_p.I135I|ACTN2_uc009xgi.1_Silent_p.I343I|ACTN2_uc010pxu.1_Intron|ACTN2_uc001hyh.2_Silent_p.I31I	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	343	Spectrin 1.				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)			AGCTGGAGATCAACTTCAACA	0.582												
ACTN2	88	broad.mit.edu	37	1	236920825	236920825	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:236920825G>A	uc001hyf.2	+	18	2398	c.2194G>A	c.(2194-2196)GCC>ACC	p.A732T	ACTN2_uc001hyg.2_Missense_Mutation_p.A524T|ACTN2_uc009xgi.1_Missense_Mutation_p.A732T|ACTN2_uc010pxu.1_Missense_Mutation_p.A421T|ACTN2_uc001hyh.2_Missense_Mutation_p.A420T	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	732	Spectrin 4.				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)			GACAACCATCGCCAGAACCAT	0.507												
CHRM3	1131	broad.mit.edu	37	1	240072247	240072247	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:240072247C>T	uc001hyp.2	+	5	2275	c.1496C>T	c.(1495-1497)GCC>GTC	p.A499V		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	499	Helical; Name=6; (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(1)	5	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ATCTTGCTTGCCTTCATCATC	0.498												
SCCPDH	51097	broad.mit.edu	37	1	246890298	246890298	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:246890298G>A	uc001ibr.2	+	2	642	c.295G>A	c.(295-297)GTA>ATA	p.V99I		NM_016002	NP_057086	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	99						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			ovary(1)	1	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		CCTCAATTGCGTAGGACCAGT	0.398												
AHCTF1	25909	broad.mit.edu	37	1	247063740	247063740	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:247063740A>T	uc001ibu.1	-	8	1156	c.1149T>A	c.(1147-1149)TTT>TTA	p.F383L	AHCTF1_uc001ibv.1_Missense_Mutation_p.F392L|AHCTF1_uc009xgs.1_5'Flank	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	383	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CCTGCCAGGTAAAGACTGAAA	0.348												
OR6F1	343169	broad.mit.edu	37	1	247875374	247875374	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:247875374G>A	uc001idj.1	-	1	684	c.684C>T	c.(682-684)ATC>ATT	p.I228I		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	228	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGGCAGAGGGGATCCTGAGGA	0.527												
OR1C1	26188	broad.mit.edu	37	1	247920953	247920953	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:247920953G>A	uc010pza.1	-	1	756	c.756C>T	c.(754-756)TAC>TAT	p.Y252Y		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	252	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGGCTGTGCCGTAAAACAACA	0.522												
OR2W3	343171	broad.mit.edu	37	1	248059482	248059482	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:248059482C>T	uc001idp.1	+	3	863	c.594C>T	c.(592-594)ACC>ACT	p.T198T	OR2W3_uc010pzb.1_Silent_p.T198T	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	198	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCGAAGGCACCGTCTTTGTCC	0.587												
KIN	22944	broad.mit.edu	37	10	7829837	7829837	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:7829837C>T	uc001ijt.2	-	1	108	c.60G>A	c.(58-60)GGG>GGA	p.G20G	KIN_uc010qaz.1_RNA|KIN_uc009xip.2_Silent_p.G20G|KIN_uc010qba.1_5'UTR|ATP5C1_uc010qbb.1_5'Flank|ATP5C1_uc009xiq.1_5'Flank|ATP5C1_uc010qbc.1_5'Flank|ATP5C1_uc001iju.2_5'Flank|ATP5C1_uc001ijv.2_5'Flank	NM_012311	NP_036443	O60870	KIN17_HUMAN	HsKin17 protein	20					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						GCTTCTGCAGCCCCTTGGACT	0.612												
TAF3	83860	broad.mit.edu	37	10	8007484	8007484	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:8007484G>A	uc010qbd.1	+	3	2011	c.2011G>A	c.(2011-2013)GCC>ACC	p.A671T		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	671	Lys-rich.				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						CCCTGCCACAGCCTCCAGGGT	0.423												
FAM188A	80013	broad.mit.edu	37	10	15885239	15885239	+	Silent	SNP	C	C	T	rs140140984		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:15885239C>T	uc001iod.1	-	3	428	c.207G>A	c.(205-207)TCG>TCA	p.S69S	FAM188A_uc001ioe.1_5'UTR|FAM188A_uc001iof.1_Silent_p.S69S	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN	chromosome 10 open reading frame 97	69					apoptosis	nucleus	calcium ion binding			ovary(1)	1						AAGACTTCTCCGAAGAAAACA	0.323												
NEBL	10529	broad.mit.edu	37	10	21141488	21141488	+	Missense_Mutation	SNP	C	C	T	rs150518045	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:21141488C>T	uc001iqi.2	-	10	1391	c.994G>A	c.(994-996)GTC>ATC	p.V332I	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	332	Nebulin 9.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						CTTTGGAGGACGGCATTGCCT	0.493												
BMI1	648	broad.mit.edu	37	10	22618263	22618263	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:22618263C>T	uc001irh.2	+	10	1412	c.773C>T	c.(772-774)GCC>GTC	p.A258V	BMI1_uc009xkg.2_Missense_Mutation_p.A401V	NM_005180	NP_005171	P35226	BMI1_HUMAN	BMI1 polycomb ring finger oncogene	258	Pro/Ser-rich.				hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			ovary(1)|skin(1)	2						AGTGACAAGGCCAACAGCCCA	0.493												
KIAA1217	56243	broad.mit.edu	37	10	24833918	24833918	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:24833918C>T	uc001iru.3	+	20	5623	c.5220C>T	c.(5218-5220)AGC>AGT	p.S1740S	KIAA1217_uc001irs.2_Silent_p.S1061S|KIAA1217_uc001irt.3_Silent_p.S1106S|KIAA1217_uc010qcy.1_Silent_p.S1171S|KIAA1217_uc010qcz.1_Silent_p.S1146S|KIAA1217_uc001irw.2_Silent_p.S890S|KIAA1217_uc001irz.2_Silent_p.S824S|KIAA1217_uc001irx.2_Silent_p.S1423S|KIAA1217_uc001iry.2_Silent_p.S864S	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1740					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						AGGGCTCCAGCGGGGCCCCAC	0.607												
MYO3A	53904	broad.mit.edu	37	10	26414415	26414415	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:26414415A>G	uc001isn.2	+	19	2352	c.1992A>G	c.(1990-1992)CGA>CGG	p.R664R	MYO3A_uc009xko.1_Silent_p.R664R|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	664	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						CAATTATACGACCCAATACTG	0.418												
GAD2	2572	broad.mit.edu	37	10	26506539	26506539	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:26506539C>T	uc001isp.2	+	2	580	c.77C>T	c.(76-78)GCG>GTG	p.A26V	GAD2_uc009xkr.2_Missense_Mutation_p.A26V|GAD2_uc001isq.2_Missense_Mutation_p.A26V	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	26					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					L-Glutamic Acid(DB00142)	TTCCTTGCAGCGCGAGCCTGG	0.592												
ACBD5	91452	broad.mit.edu	37	10	27497331	27497331	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:27497331C>T	uc010qdp.1	-	10	1439	c.1248G>A	c.(1246-1248)CAG>CAA	p.Q416Q	ACBD5_uc010qdm.1_Silent_p.Q414Q|ACBD5_uc010qdn.1_Silent_p.Q307Q|ACBD5_uc010qdo.1_Silent_p.Q239Q|ACBD5_uc001ito.2_Silent_p.Q381Q|ACBD5_uc001itp.2_Silent_p.Q307Q|ACBD5_uc001itq.2_Silent_p.Q307Q|ACBD5_uc001itr.1_Silent_p.Q205Q	NM_145698	NP_663736	Q5T8D3	ACBD5_HUMAN	acyl-Coenzyme A binding domain containing 5	425					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding				0						CACTTCCCACCTGCCGGCCCT	0.512												
PTCHD3	374308	broad.mit.edu	37	10	27702350	27702350	+	Missense_Mutation	SNP	G	G	A	rs147881350		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:27702350G>A	uc001itu.2	-	1	948	c.830C>T	c.(829-831)ACG>ATG	p.T277M		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	277					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						CAGGTTGAGCGTTTTGTTCAC	0.612												
MTPAP	55149	broad.mit.edu	37	10	30611528	30611528	+	Silent	SNP	G	G	A	rs139195646	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:30611528G>A	uc001iva.3	-	6	1074	c.1011C>T	c.(1009-1011)TCC>TCT	p.S337S	MTPAP_uc001ivb.3_Silent_p.S467S	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	PAP associated domain containing 1 precursor	337					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			ovary(1)	1						AAAGGAGTTCGGAACTTGTCA	0.378												
ZNF33A	7581	broad.mit.edu	37	10	38343774	38343774	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:38343774A>G	uc001izh.2	+	5	897	c.719A>G	c.(718-720)AAC>AGC	p.N240S	ZNF33A_uc001izg.2_Missense_Mutation_p.N241S|ZNF33A_uc010qev.1_Missense_Mutation_p.N247S|ZNF33A_uc001izi.1_Intron	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	240						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						AAGAGAGAGAACGCAGAAGAG	0.383												
OR13A1	79290	broad.mit.edu	37	10	45798942	45798942	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:45798942A>G	uc001jcc.1	-	4	1238	c.929T>C	c.(928-930)TTG>TCG	p.L310S	OR13A1_uc001jcd.1_Missense_Mutation_p.L306S	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A,	310	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CTTGTTTCTCAAAGTATAGAT	0.483												
MARCH8	220972	broad.mit.edu	37	10	45956826	45956826	+	Silent	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:45956826G>T	uc001jci.1	-	5	515	c.276C>A	c.(274-276)CCC>CCA	p.P92P	MARCH8_uc001jch.2_Silent_p.P374P|MARCH8_uc001jcj.1_Silent_p.P92P|MARCH8_uc001jck.1_Silent_p.P92P|MARCH8_uc001jcg.1_5'UTR	NM_001002266	NP_001002266	Q5T0T0	MARH8_HUMAN	cellular modulator of immune recognition isoform	92	RING-CH-type.					cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding				0						GGGTGATCAGGGGGCTCTCAT	0.582												
RBP3	5949	broad.mit.edu	37	10	48385926	48385926	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:48385926G>A	uc001jez.2	-	2	3280	c.3166C>T	c.(3166-3168)CTC>TTC	p.L1056F		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	1056	4 X approximate tandem repeats.|4.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	ACCTGGGTGAGCAGCTCACCG	0.512												
OGDHL	55753	broad.mit.edu	37	10	50959917	50959917	+	Silent	SNP	G	G	A	rs149339959		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:50959917G>A	uc001jie.2	-	6	847	c.705C>T	c.(703-705)AGC>AGT	p.S235S	OGDHL_uc009xog.2_Silent_p.S262S|OGDHL_uc010qgt.1_Silent_p.S178S|OGDHL_uc010qgu.1_Silent_p.S26S|OGDHL_uc009xoh.2_Silent_p.S26S	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	235					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						GCTTCTCCTCGCTGGAGAACT	0.607												
CSTF2T	23283	broad.mit.edu	37	10	53458059	53458059	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:53458059C>T	uc001jjp.2	-	1	1297	c.1251G>A	c.(1249-1251)GCG>GCA	p.A417A	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	417	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)		GAGTCTCCATCGCTCGAGAAT	0.512												
ANK3	288	broad.mit.edu	37	10	61835822	61835822	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:61835822G>A	uc001jky.2	-	37	5009	c.4817C>T	c.(4816-4818)ACG>ATG	p.T1606M	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	1606	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						CGTAGCTTCCGTGACTGCTGG	0.483												
ARID5B	84159	broad.mit.edu	37	10	63759914	63759914	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:63759914G>A	uc001jlt.1	+	4	593	c.567G>A	c.(565-567)TCG>TCA	p.S189S	ARID5B_uc010qil.1_Silent_p.S189S	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	189					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)					GGTACCGCTCGATGCTGAAAC	0.532												
AIFM2	84883	broad.mit.edu	37	10	71880941	71880941	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:71880941C>T	uc010qjg.1	-	3	334	c.321G>A	c.(319-321)CTG>CTA	p.L107L	AIFM2_uc001jqp.1_Silent_p.L107L	NM_032797	NP_116186	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor (AIF)-like	107					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)	1						TGCCCGTGGCCAGGATAAGAT	0.443												
NPFFR1	64106	broad.mit.edu	37	10	72025905	72025905	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:72025905T>C	uc010qjk.1	-	1	250	c.244A>G	c.(244-246)AAC>GAC	p.N82D		NM_022146	NP_071429	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	84	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	neuropeptide receptor activity				0						ACAGCCAGGTTGAGGATGAAC	0.562												
CDH23	64072	broad.mit.edu	37	10	73538008	73538008	+	Silent	SNP	C	C	T	rs111033487	by1000genomes	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:73538008C>T	uc001jrx.3	+	38	5507	c.5130C>T	c.(5128-5130)ATC>ATT	p.I1710I		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1710	Cadherin 16.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						ACACCCTGATCGTCACTGCCA	0.607												
ASCC1	51008	broad.mit.edu	37	10	73912658	73912658	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:73912658C>T	uc001jst.1	-	8	907	c.799G>A	c.(799-801)GCC>ACC	p.A267T	ASCC1_uc001jsr.1_Missense_Mutation_p.A154T|ASCC1_uc001jss.1_Missense_Mutation_p.A239T|ASCC1_uc001jsu.1_Missense_Mutation_p.A239T|ASCC1_uc010qju.1_Missense_Mutation_p.A260T			Q8N9N2	ASCC1_HUMAN	RecName: Full=Activating signal cointegrator 1 complex subunit 1; AltName: Full=ASC-1 complex subunit p50; AltName: Full=Trip4 complex subunit p50;	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding				0						TGGACTTTGGCGTAAAGAACA	0.408												
CBARA1	10367	broad.mit.edu	37	10	74268011	74268011	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:74268011C>T	uc001jtb.1	-	7	693	c.560G>A	c.(559-561)CGA>CAA	p.R187Q	CBARA1_uc010qjw.1_5'UTR|CBARA1_uc010qjx.1_Intron|CBARA1_uc009xqo.1_RNA	NM_006077	NP_006068	Q9BPX6	MICU1_HUMAN	calcium binding atopy-related autoantigen 1	185					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			ovary(1)	1						AAATTTTTCTCGTTCCTGGGA	0.338												
PLAU	5328	broad.mit.edu	37	10	75674570	75674570	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:75674570C>T	uc001jwa.2	+	9	1012	c.866C>T	c.(865-867)GCG>GTG	p.A289V	C10orf55_uc001jvz.1_Intron|PLAU_uc010qkw.1_Missense_Mutation_p.A272V|PLAU_uc010qkx.1_Missense_Mutation_p.A203V|PLAU_uc001jwb.2_RNA|PLAU_uc001jwc.2_Missense_Mutation_p.A289V|PLAU_uc009xrq.1_Missense_Mutation_p.A253V	NM_002658	NP_002649	P00749	UROK_HUMAN	plasminogen activator, urokinase isoform 1	289	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)	GGCAGGTGTGCGCAGCCATCC	0.552												
MYST4	23522	broad.mit.edu	37	10	76788343	76788343	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:76788343G>A	uc001jwn.1	+	18	4254	c.3761G>A	c.(3760-3762)CGC>CAC	p.R1254H	MYST4_uc001jwo.1_Missense_Mutation_p.R962H|MYST4_uc001jwp.1_Missense_Mutation_p.R1071H	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1254					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)					GGAACAAAGCGCGGTCTATCT	0.438			T	CREBBP	AML							
SFTPD	6441	broad.mit.edu	37	10	81701740	81701740	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:81701740G>A	uc001kbh.2	-	5	563	c.520C>T	c.(520-522)CGT>TGT	p.R174C	MBL1P_uc001kbf.2_Intron	NM_003019	NP_003010	P35247	SFTPD_HUMAN	pulmonary surfactant-associated protein D	174	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			skin(1)	1	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			GGGACTCCACGCTCACCAGGG	0.627												
NRG3	10718	broad.mit.edu	37	10	84711311	84711311	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:84711311T>C	uc001kco.2	+	5	1168	c.1141T>C	c.(1141-1143)TTC>CTC	p.F381L	NRG3_uc010qlz.1_Missense_Mutation_p.F380L|NRG3_uc001kcp.2_Missense_Mutation_p.F160L|NRG3_uc001kcq.2_Missense_Mutation_p.F31L|NRG3_uc001kcr.2_Missense_Mutation_p.F31L	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	381	Helical; Note=Internal signal sequence; (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CTGTGCAGCATTCTACTTCAA	0.378												
RGR	5995	broad.mit.edu	37	10	86014126	86014126	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:86014126C>T	uc001kdc.1	+	5	595	c.557C>T	c.(556-558)GCC>GTC	p.A186V	RGR_uc001kdd.1_Missense_Mutation_p.A190V|RGR_uc001kde.1_Missense_Mutation_p.A186V	NM_001012720	NP_001012738	P47804	RGR_HUMAN	retinal G-protein coupled receptor isoform 2	186	Helical; Name=5; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			ovary(1)	1						TTCAACTTCGCCATGCCCCTC	0.542												
GRID1	2894	broad.mit.edu	37	10	87407104	87407104	+	Missense_Mutation	SNP	C	C	T	rs76097378	by1000genomes	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:87407104C>T	uc001kdl.1	-	13	2149	c.2048G>A	c.(2047-2049)CGG>CAG	p.R683Q	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.R254Q|uc001kdm.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	683	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	AGCAGAATCCCGGACAGTGCC	0.527										Multiple Myeloma(13;0.14)		
PTEN	5728	broad.mit.edu	37	10	89653868	89653868	+	Splice_Site	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:89653868T>C	uc001kfb.2	+	3	1195	c.164_splice	c.e3+2	p.R55_splice		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog						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.Y27fs*1(2)|p.?(2)|p.V54fs*29(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)		TGTAGTAAGGTAAGAATGCTT	0.299		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)		
FAS	355	broad.mit.edu	37	10	90774042	90774042	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:90774042G>A	uc001kfr.2	+	9	1189	c.843G>A	c.(841-843)TGG>TGA	p.W281*	FAS_uc010qna.1_RNA|FAS_uc001kfs.2_3'UTR|FAS_uc001kft.2_Nonsense_Mutation_p.W260*|FAS_uc010qnb.1_RNA|FAS_uc010qnc.1_RNA|FAS_uc001kfw.2_3'UTR|FAS_uc010qnd.1_RNA|FAS_uc010qne.1_RNA|FAS_uc009xtp.2_RNA	NM_000043	NP_000034	P25445	TNR6_HUMAN	tumor necrosis factor receptor superfamily,	281	Death.|Interaction with HIPK3 (By similarity).|Cytoplasmic (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			upper_aerodigestive_tract(1)|breast(1)	2		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		TTCGTAATTGGCATCAACTTC	0.368									Autoimmune_Lymphoproliferative_syndrome_type_I			
MYOF	26509	broad.mit.edu	37	10	95169361	95169361	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:95169361C>T	uc001kin.2	-	6	692	c.569G>A	c.(568-570)CGG>CAG	p.R190Q	MYOF_uc001kio.2_Missense_Mutation_p.R190Q|MYOF_uc001kip.3_Missense_Mutation_p.R190Q|MYOF_uc009xuf.2_Missense_Mutation_p.R172Q	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	190	C2 2.|Cytoplasmic (Potential).|Necessary for interaction with EHD2.				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						TGACAGCATCCGCCGGCTGTT	0.542												
SORBS1	10580	broad.mit.edu	37	10	97194450	97194450	+	Missense_Mutation	SNP	C	C	T	rs139115529		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:97194450C>T	uc001kkp.2	-	3	146	c.101G>A	c.(100-102)CGC>CAC	p.R34H	SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Missense_Mutation_p.R22H|SORBS1_uc001kko.2_Missense_Mutation_p.R34H|SORBS1_uc001kkq.2_Missense_Mutation_p.R34H|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Intron|SORBS1_uc001kku.2_Missense_Mutation_p.R34H|SORBS1_uc001kkv.2_Intron|SORBS1_uc001kkw.2_Missense_Mutation_p.R34H|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Intron|SORBS1_uc001kkx.1_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	34					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AGAAATAGAGCGTGCGCGTAA	0.473												
TLL2	7093	broad.mit.edu	37	10	98146799	98146799	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:98146799C>T	uc001kml.1	-	14	1989	c.1763G>A	c.(1762-1764)TGC>TAC	p.C588Y		NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	tolloid-like 2 precursor	588	EGF-like 1; calcium-binding (Potential).			EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871).	cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GCGATGCTCGCACCCGCCGTG	0.597												
SLIT1	6585	broad.mit.edu	37	10	98760984	98760984	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:98760984C>T	uc001kmw.2	-	37	4742	c.4490G>A	c.(4489-4491)TGC>TAC	p.C1497Y		NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	1497	CTCK.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCCCTGGCAGCAGCCCTGGCC	0.642												
CRTAC1	55118	broad.mit.edu	37	10	99655720	99655720	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:99655720G>A	uc001kou.1	-	10	1595	c.1239C>T	c.(1237-1239)GAC>GAT	p.D413D	CRTAC1_uc001kov.2_Silent_p.D402D|CRTAC1_uc001kot.1_Silent_p.D203D	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1 precursor	413	FG-GAP 4; 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)		TCCCGTCTCCGTCGAAGTCGG	0.582												
TLX1	3195	broad.mit.edu	37	10	102896641	102896641	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:102896641G>A	uc001ksw.2	+	3	1202	c.964G>A	c.(964-966)GTC>ATC	p.V322I		NM_005521	NP_005512	P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	322						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AATCACTAGCGTCACGTCGGT	0.647			T	TRB@|TRD@	T-ALL							
MGEA5	10724	broad.mit.edu	37	10	103563735	103563735	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:103563735C>T	uc001ktv.2	-	7	1236	c.793G>A	c.(793-795)GAA>AAA	p.E265K	MGEA5_uc010qqe.1_Missense_Mutation_p.E265K|MGEA5_uc009xws.2_Missense_Mutation_p.E265K|MGEA5_uc001ktw.2_Missense_Mutation_p.E265K|MGEA5_uc009xwt.2_Intron	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	265					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		GAAACCTCTTCGATGGACTCT	0.353												
NT5C2	22978	broad.mit.edu	37	10	104850727	104850727	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:104850727C>T	uc001kwo.2	-	17	1424	c.1238G>A	c.(1237-1239)CGT>CAT	p.R413H	NT5C2_uc010qqp.1_Missense_Mutation_p.R384H|NT5C2_uc001kwq.2_Missense_Mutation_p.R413H|NT5C2_uc001kwp.2_Missense_Mutation_p.R260H	NM_012229	NP_036361	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	413					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding				0		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	GATGTCTGGACGCTCATTGCT	0.328												
INA	9118	broad.mit.edu	37	10	105046873	105046873	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:105046873C>T	uc001kws.2	+	2	1196	c.1147C>T	c.(1147-1149)CTC>TTC	p.L383F		NM_032727	NP_116116	Q16352	AINX_HUMAN	internexin neuronal intermediate filament	383	Coil 2.|Rod.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			ovary(1)|breast(1)	2				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CCAGGACTTGCTCAATGTCAA	0.488												
SORCS1	114815	broad.mit.edu	37	10	108431115	108431115	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:108431115C>T	uc001kym.2	-	16	2077	c.2069G>A	c.(2068-2070)TGT>TAT	p.C690Y	SORCS1_uc001kyl.2_Missense_Mutation_p.C690Y|SORCS1_uc009xxs.2_Missense_Mutation_p.C690Y|SORCS1_uc001kyn.1_Missense_Mutation_p.C690Y|SORCS1_uc001kyo.2_Missense_Mutation_p.C690Y	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	690	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)		TCCCATGATACATGCTTCCCC	0.448												
SORCS1	114815	broad.mit.edu	37	10	108439027	108439027	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:108439027T>G	uc001kym.2	-	12	1735	c.1727A>C	c.(1726-1728)AAC>ACC	p.N576T	SORCS1_uc001kyl.2_Missense_Mutation_p.N576T|SORCS1_uc009xxs.2_Missense_Mutation_p.N576T|SORCS1_uc001kyn.1_Missense_Mutation_p.N576T|SORCS1_uc001kyo.2_Missense_Mutation_p.N576T	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	576	Lumenal (Potential).|BNR 4.					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)		TCTCCAGGTGTTCCCTGCATC	0.398												
HABP2	3026	broad.mit.edu	37	10	115338458	115338458	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:115338458C>T	uc001lai.3	+	7	744	c.641C>T	c.(640-642)GCG>GTG	p.A214V	HABP2_uc010qrz.1_RNA|HABP2_uc010qry.1_3'UTR	NM_004132	NP_004123	Q14520	HABP2_HUMAN	hyaluronan binding protein 2 preproprotein	214	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)		AACCAGCATGCGTGCCTTTAC	0.488												
VWA2	340706	broad.mit.edu	37	10	116021030	116021030	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:116021030C>T	uc001lbl.1	+	5	668	c.347C>T	c.(346-348)GCA>GTA	p.A116V	VWA2_uc001lbk.1_Missense_Mutation_p.A116V|VWA2_uc009xyf.1_5'UTR	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	116	VWFA 1.					extracellular region				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5				Epithelial(162;0.036)|all cancers(201;0.0793)		GAAGTGAAGGCAAGAATCAAG	0.463												
INPP5F	22876	broad.mit.edu	37	10	121583376	121583376	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:121583376G>A	uc001leo.2	+	19	2377	c.2211G>A	c.(2209-2211)ATG>ATA	p.M737I	INPP5F_uc001lep.2_Missense_Mutation_p.M127I	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	737							phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AGCAAGCCATGGGATCGGATT	0.388												
DMBT1	1755	broad.mit.edu	37	10	124380630	124380630	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:124380630G>A	uc001lgk.1	+	41	5061	c.4955G>A	c.(4954-4956)CGA>CAA	p.R1652Q	DMBT1_uc001lgl.1_Missense_Mutation_p.R1642Q|DMBT1_uc001lgm.1_Missense_Mutation_p.R1024Q|DMBT1_uc009xzz.1_Missense_Mutation_p.R1652Q|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.R355Q|DMBT1_uc009yac.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1652	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGTCGAGGCCGAGTGGAGGTC	0.557												
CHST15	51363	broad.mit.edu	37	10	125801922	125801922	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:125801922C>T	uc001lhl.2	-	3	1441	c.928G>A	c.(928-930)GTG>ATG	p.V310M	CHST15_uc001lhm.2_Missense_Mutation_p.V310M|CHST15_uc001lhn.2_Missense_Mutation_p.V310M|CHST15_uc010que.1_Missense_Mutation_p.V310M|CHST15_uc001lho.2_Missense_Mutation_p.V310M	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	B cell RAG associated protein	310	Lumenal (Potential).				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			ovary(1)	1						TAATCTTCCACGGGATAGCGG	0.522												
MGMT	4255	broad.mit.edu	37	10	131506287	131506287	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:131506287A>G	uc001lkh.2	+	3	373	c.347A>G	c.(346-348)CAC>CGC	p.H116R		NM_002412	NP_002403	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	85										ovary(1)|breast(1)	2		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		CCGGCTCTTCACCATCCCGTT	0.537								Direct_reversal_of_damage				
EBF3	253738	broad.mit.edu	37	10	131639112	131639112	+	Silent	SNP	G	G	A	rs147171591		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:131639112G>A	uc001lki.1	-	14	1589	c.1530C>T	c.(1528-1530)TAC>TAT	p.Y510Y		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	519	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		ACTTACTGCCGTAGGGAGAGT	0.507												
NLRP6	171389	broad.mit.edu	37	11	281195	281195	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:281195C>T	uc010qvs.1	+	4	1461	c.1461C>T	c.(1459-1461)GGC>GGT	p.G487G	NLRP6_uc010qvt.1_Silent_p.G487G	NM_138329	NP_612202	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	487	NACHT.|LRR 1.					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)		AGCTGCCGGGCGTGCTGGAGA	0.612												
ANO9	338440	broad.mit.edu	37	11	418746	418746	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:418746G>A	uc001lpi.2	-	22	2189	c.2104C>T	c.(2104-2106)CGC>TGC	p.R702C	SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Missense_Mutation_p.R395C|ANO9_uc010qvv.1_Missense_Mutation_p.R558C	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	702	Extracellular (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4						AAGGCCAGGCGGATGGCCAGG	0.607												
PTDSS2	81490	broad.mit.edu	37	11	487453	487453	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:487453C>A	uc001lpj.2	+	6	780	c.604C>A	c.(604-606)CTT>ATT	p.L202I		NM_030783	NP_110410	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	202	Extracellular (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)	CGCGCACTTTCTTGGCTGGTA	0.637												
TALDO1	6888	broad.mit.edu	37	11	763457	763457	+	Missense_Mutation	SNP	G	G	A	rs151052416		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:763457G>A	uc001lqz.2	+	5	625	c.575G>A	c.(574-576)CGC>CAC	p.R192H	TALDO1_uc001lra.2_Missense_Mutation_p.R192H	NM_006755	NP_006746	P37837	TALDO_HUMAN	transaldolase 1	192					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity				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;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		TTTGTTGGGCGCATCCTTGAT	0.582												
LRDD	55367	broad.mit.edu	37	11	799897	799897	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:799897G>A	uc001lro.1	-	15	2534	c.2392C>T	c.(2392-2394)CGT>TGT	p.R798C	SLC25A22_uc009yci.2_5'Flank|SLC25A22_uc001lrj.2_5'Flank|LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Missense_Mutation_p.R781C|LRDD_uc001lrl.1_Missense_Mutation_p.R641C|LRDD_uc001lrm.1_Missense_Mutation_p.R485C|LRDD_uc001lrn.1_Missense_Mutation_p.R641C|LRDD_uc001lrp.1_3'UTR	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	leucine rich repeat and death domain containing	798	Death.				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding				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;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGACCCAGACGCCCAGCCACA	0.692												
MUC5B	727897	broad.mit.edu	37	11	1263879	1263879	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:1263879G>A	uc009ycr.1	+	47	7974	c.7848G>A	c.(7846-7848)ACG>ACA	p.T2616T	MUC5B_uc001ltb.2_Silent_p.T1926T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	1923	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)		CTGGATCCACGGCCACCCCGA	0.647												
BRSK2	9024	broad.mit.edu	37	11	1467040	1467040	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:1467040C>T	uc001lti.2	+	12	1515	c.1129C>T	c.(1129-1131)CGG>TGG	p.R377W	BRSK2_uc009ycv.1_Missense_Mutation_p.R377W|BRSK2_uc001lth.1_Missense_Mutation_p.R377W|BRSK2_uc001ltj.2_Missense_Mutation_p.R377W|BRSK2_uc001ltk.2_RNA|BRSK2_uc001ltl.2_Missense_Mutation_p.R377W|BRSK2_uc001ltm.2_Missense_Mutation_p.R423W|BRSK2_uc001ltn.2_RNA|BRSK2_uc010qwx.1_RNA	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	377					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CGGCAAGCGGCGGCCAGAACG	0.697												
OSBPL5	114879	broad.mit.edu	37	11	3111807	3111807	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:3111807C>T	uc001lxk.2	-	20	2537	c.2379G>A	c.(2377-2379)CAG>CAA	p.Q793Q	OSBPL5_uc010qxq.1_Silent_p.Q704Q|OSBPL5_uc009ydw.2_Silent_p.Q725Q|OSBPL5_uc001lxl.2_Silent_p.Q725Q|OSBPL5_uc001lxj.2_Silent_p.Q247Q	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	oxysterol-binding protein-like protein 5 isoform	793					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AGTCACCATCCTGCTCCTCGT	0.677												
ART5	116969	broad.mit.edu	37	11	3661166	3661166	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:3661166G>A	uc001lyb.1	-	2	886	c.493C>T	c.(493-495)CTT>TTT	p.L165F	ART5_uc001lyc.1_Missense_Mutation_p.L165F|ART5_uc001lyd.2_Missense_Mutation_p.L165F|ART5_uc009yea.2_Missense_Mutation_p.L165F	NM_053017	NP_443750	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5 precursor	165						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			ovary(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCAAAGCGAAGGCTGCCCACA	0.632												
STIM1	6786	broad.mit.edu	37	11	4103494	4103494	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:4103494G>A	uc001lyv.2	+	8	1618	c.1050G>A	c.(1048-1050)TGG>TGA	p.W350*	STIM1_uc009yef.2_Nonsense_Mutation_p.W350*|STIM1_uc009yeg.2_Nonsense_Mutation_p.W177*	NM_003156	NP_003147	Q13586	STIM1_HUMAN	stromal interaction molecule 1 precursor	350	Cytoplasmic (Potential).|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)		TTCAGAAGTGGCTGCAGCTGA	0.517												
STIM1	6786	broad.mit.edu	37	11	4112533	4112533	+	Silent	SNP	G	G	A	rs148209416		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:4112533G>A	uc001lyv.2	+	12	2131	c.1563G>A	c.(1561-1563)TCG>TCA	p.S521S	STIM1_uc009yef.2_Missense_Mutation_p.G534R|STIM1_uc009yeg.2_Silent_p.S348S	NM_003156	NP_003147	Q13586	STIM1_HUMAN	stromal interaction molecule 1 precursor	521	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)		ATTCCGATTCGGAGTCCTCCC	0.478												
TRIM68	55128	broad.mit.edu	37	11	4621714	4621714	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:4621714G>A	uc001lzf.1	-	7	1488	c.1250C>T	c.(1249-1251)CCG>CTG	p.P417L	TRIM68_uc001lzg.1_Missense_Mutation_p.P194L|TRIM68_uc010qyj.1_RNA	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	ring finger protein 137	417	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGGAGGGACCGGCAAGGACAG	0.532												
OR51E1	143503	broad.mit.edu	37	11	4674693	4674693	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:4674693A>G	uc001lzi.3	+	2	1081	c.937A>G	c.(937-939)ACA>GCA	p.T313A		NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E,	312	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|pancreas(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATGTGGCCACACACGCTTC	0.433												
TRIM5	85363	broad.mit.edu	37	11	5699619	5699619	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:5699619G>A	uc001mbm.1	-	4	816	c.559C>T	c.(559-561)CAA>TAA	p.Q187*	TRIM5_uc001mbq.1_Nonsense_Mutation_p.Q187*|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Nonsense_Mutation_p.Q187*|TRIM5_uc001mbo.2_Nonsense_Mutation_p.Q187*|TRIM5_uc001mbp.2_Nonsense_Mutation_p.Q187*	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	187	Potential.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TCTCTCAGTTGCTCAAAATCT	0.463												
CCKBR	887	broad.mit.edu	37	11	6291537	6291537	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:6291537G>A	uc001mcp.2	+	3	816	c.623G>A	c.(622-624)CGC>CAC	p.R208H	CCKBR_uc001mcq.2_Missense_Mutation_p.R136H|CCKBR_uc001mcr.2_Missense_Mutation_p.R208H|CCKBR_uc001mcs.2_Missense_Mutation_p.R208H|CCKBR_uc001mct.1_5'Flank	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	208	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TGCGTGCATCGCTGGCCCAGT	0.582												
CCKBR	887	broad.mit.edu	37	11	6292725	6292725	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:6292725G>A	uc001mcp.2	+	5	1489	c.1296G>A	c.(1294-1296)TCG>TCA	p.S432S	CCKBR_uc001mcq.2_Silent_p.S360S|CCKBR_uc001mcr.2_Silent_p.S415S|CCKBR_uc001mcs.2_Silent_p.S501S	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	432	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CCATTGCTTCGCTGTCCAGGC	0.652												
APBB1	322	broad.mit.edu	37	11	6424925	6424925	+	Silent	SNP	G	G	T	rs139929849		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:6424925G>T	uc001mdb.1	-	3	949	c.849C>A	c.(847-849)CCC>CCA	p.P283P	APBB1_uc001mcz.1_5'Flank|APBB1_uc001mdd.3_Silent_p.P63P|APBB1_uc001mda.2_Intron|APBB1_uc001mdc.1_Silent_p.P283P|APBB1_uc010rab.1_5'Flank|APBB1_uc010rac.1_5'Flank|APBB1_uc010rad.1_5'Flank|APBB1_uc010rae.1_Silent_p.P48P|APBB1_uc010raf.1_Silent_p.P24P|APBB1_uc009yfa.2_Silent_p.P24P|APBB1_uc009yey.2_Silent_p.P24P|APBB1_uc010rag.1_Silent_p.P24P|APBB1_uc009yfb.2_Silent_p.P24P|APBB1_uc001mde.2_Silent_p.P24P|APBB1_uc010rah.1_Silent_p.P24P	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	283	WW.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(2)	2		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AGGCCCGGCCGGGGGGTTCCC	0.652												
DCHS1	8642	broad.mit.edu	37	11	6655115	6655115	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:6655115C>T	uc001mem.1	-	4	2533	c.2123G>A	c.(2122-2124)CGT>CAT	p.R708H		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	708	Cadherin 7.|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)		GTCATGGGCACGCAACCTCAG	0.557												
DCHS1	8642	broad.mit.edu	37	11	6661810	6661810	+	Silent	SNP	C	C	T	rs143172918	by1000genomes	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:6661810C>T	uc001mem.1	-	2	1445	c.1035G>A	c.(1033-1035)TCG>TCA	p.S345S		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	345	Extracellular (Potential).|Cadherin 3.				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)		TCACAAAGGCCGAGCCCAGCT	0.597												
RBMXL2	27288	broad.mit.edu	37	11	7111248	7111248	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:7111248G>A	uc001mfc.2	+	1	1084	c.897G>A	c.(895-897)CCG>CCA	p.P299P		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	299	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGGGGACACCGCCATCTTACG	0.662												
CTR9	9646	broad.mit.edu	37	11	10793117	10793117	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:10793117G>T	uc001mja.2	+	19	2547	c.2398G>T	c.(2398-2400)GGA>TGA	p.G800*		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	800					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GAGTAAAGTGGGAGATAAAAT	0.318												
PIK3C2A	5286	broad.mit.edu	37	11	17134211	17134211	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:17134211C>T	uc001mmq.3	-	20	3390	c.3324G>A	c.(3322-3324)TCG>TCA	p.S1108S	PIK3C2A_uc009ygu.1_Translation_Start_Site|PIK3C2A_uc010rcw.1_Silent_p.S728S|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	1108					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	AGAAGGAACACGACTGCAAAT	0.358												
ABCC8	6833	broad.mit.edu	37	11	17483300	17483300	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:17483300G>T	uc001mnc.2	-	5	778	c.652C>A	c.(652-654)CTG>ATG	p.L218M	ABCC8_uc010rcy.1_Missense_Mutation_p.L218M	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	218	Cytoplasmic (By similarity).				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AAGGGCTGCAGGAAGCGTACC	0.582												
MYOD1	4654	broad.mit.edu	37	11	17741380	17741380	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:17741380C>T	uc001mni.2	+	1	271	c.51C>T	c.(49-51)GAC>GAT	p.D17D		NM_002478	NP_002469	P15172	MYOD1_HUMAN	myogenic differentiation 1	17					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|ovary(1)	3						CGGCCCCCGACGGCTCTCTCT	0.657												
E2F8	79733	broad.mit.edu	37	11	19256468	19256468	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:19256468C>T	uc001mpm.2	-	5	1111	c.589G>A	c.(589-591)GGG>AGG	p.G197R	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.G197R	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	197					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						TTCTCCTCCCCGATGCTCTTC	0.433												
KIF18A	81930	broad.mit.edu	37	11	28045380	28045380	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:28045380G>A	uc001msc.2	-	16	2704	c.2522C>T	c.(2521-2523)TCG>TTG	p.S841L		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	kinesin family member 18A	841					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			ovary(2)	2						TGCAGTTAACGAACTGTTTGA	0.328												
CCDC73	493860	broad.mit.edu	37	11	32636061	32636061	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:32636061G>A	uc001mtv.2	-	16	1847	c.1803C>T	c.(1801-1803)TTC>TTT	p.F601F		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	601										ovary(1)|central_nervous_system(1)	2	Breast(20;0.112)					TGAATTGTTTGAATGGCTCAT	0.333												
C11orf41	25758	broad.mit.edu	37	11	33566554	33566554	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:33566554A>G	uc001mup.3	+	2	2266	c.2142A>G	c.(2140-2142)CCA>CCG	p.P714P	C11orf41_uc001mun.1_Silent_p.P714P	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	708						integral to membrane				ovary(2)	2						CAGCCTTCCCATTCACACCAA	0.498												
PDHX	8050	broad.mit.edu	37	11	35006241	35006241	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:35006241C>T	uc001mvt.2	+	9	1674	c.1148C>T	c.(1147-1149)GCT>GTT	p.A383V	PDHX_uc010rep.1_Missense_Mutation_p.A368V|PDHX_uc010req.1_Missense_Mutation_p.A156V	NM_003477	NP_003468	O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	383					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			kidney(1)	1	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			GATGCTGCTGCTAAAGGTATC	0.388												
CD44	960	broad.mit.edu	37	11	35211585	35211585	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:35211585G>A	uc001mvu.2	+	5	1074	c.640G>A	c.(640-642)GAC>AAC	p.D214N	CD44_uc001mvv.2_Missense_Mutation_p.D214N|CD44_uc001mvw.2_Missense_Mutation_p.D214N|CD44_uc001mvx.2_Missense_Mutation_p.D214N|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Missense_Mutation_p.D214N|CD44_uc010rer.1_Missense_Mutation_p.D214N|CD44_uc009ykh.2_RNA|CD44_uc010res.1_5'UTR|CD44_uc010ret.1_RNA|CD44_uc010reu.1_5'UTR	NM_000610	NP_000601	P16070	CD44_HUMAN	CD44 antigen isoform 1 precursor	214	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			pancreas(1)	1	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	CTGGATCACCGACAGCACAGA	0.493												
ACCS	84680	broad.mit.edu	37	11	44105261	44105261	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:44105261G>A	uc009yks.1	+	15	1569	c.1425G>A	c.(1423-1425)CAG>CAA	p.Q475Q	EXT2_uc010rfo.1_Intron|ACCS_uc001mxx.2_Silent_p.Q475Q	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase	475							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(2)|ovary(1)|lung(1)	4						AGAGGGTCCAGCAGGTGCTTG	0.617												
EXT2	2132	broad.mit.edu	37	11	44135753	44135753	+	Silent	SNP	C	C	T	rs111364140		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:44135753C>T	uc001mxz.2	+	4	979	c.645C>T	c.(643-645)GGC>GGT	p.G215G	EXT2_uc010rfo.1_Silent_p.G243G|EXT2_uc001mxy.2_Silent_p.G228G|EXT2_uc009ykt.2_Silent_p.G215G|EXT2_uc001mya.2_Silent_p.G248G	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	215	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			lung(2)|breast(2)|skin(1)	5						TGGCTGGTGGCGGCTTTTCTA	0.473			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses			
MADD	8567	broad.mit.edu	37	11	47298400	47298400	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:47298400G>A	uc001ner.1	+	5	1272	c.1081G>A	c.(1081-1083)GCA>ACA	p.A361T	MADD_uc001neq.2_Missense_Mutation_p.A361T|MADD_uc001nev.1_Missense_Mutation_p.A361T|MADD_uc001nes.1_Missense_Mutation_p.A361T|MADD_uc001net.1_Missense_Mutation_p.A361T|MADD_uc009yln.1_Missense_Mutation_p.A361T|MADD_uc001neu.1_Missense_Mutation_p.A361T|MADD_uc001nex.2_Missense_Mutation_p.A361T|MADD_uc001nez.2_Missense_Mutation_p.A361T|MADD_uc001new.2_Missense_Mutation_p.A361T	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	361	DENN.				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)		CACCTGCATGGCATCAGCAGA	0.512												
PTPRJ	5795	broad.mit.edu	37	11	48134376	48134376	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:48134376G>A	uc001ngp.3	+	3	548	c.193G>A	c.(193-195)GCA>ACA	p.A65T	PTPRJ_uc001ngo.3_Missense_Mutation_p.A65T	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	65	Extracellular (Potential).				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						CAGCAGTACAGCAGAATCCTT	0.448												
OR4C15	81309	broad.mit.edu	37	11	55322311	55322311	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:55322311G>A	uc010rig.1	+	1	529	c.529G>A	c.(529-531)GTG>ATG	p.V177M		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	123	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TGATCGTTATGTGGCCATTTG	0.507										HNSCC(20;0.049)		
OR5L1	219437	broad.mit.edu	37	11	55579394	55579394	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:55579394G>T	uc001nhw.1	+	1	452	c.452G>T	c.(451-453)TGT>TTT	p.C151F		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	151	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)				TGCTACTTCTGTGGGACGGTG	0.468												
OR5D16	390144	broad.mit.edu	37	11	55606783	55606783	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:55606783C>A	uc010rio.1	+	1	556	c.556C>A	c.(556-558)CTG>ATG	p.L186M		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D,	186	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_epithelial(135;0.208)				GTTATCCTCCCTGATATCACT	0.418												
OR5M8	219484	broad.mit.edu	37	11	56258583	56258583	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:56258583C>A	uc001nix.1	-	1	264	c.264G>T	c.(262-264)AAG>AAT	p.K88N		NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M,	88	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	Esophageal squamous(21;0.00352)					AAATGCTTTTCTTCTCTGAAA	0.458												
OR5M10	390167	broad.mit.edu	37	11	56345140	56345140	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:56345140C>T	uc001niz.1	-	1	58	c.58G>A	c.(58-60)GAC>AAC	p.D20N		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AGCACTGGGTCGTCTGTCAGT	0.458												
OR9I1	219954	broad.mit.edu	37	11	57886596	57886596	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:57886596A>G	uc001nml.1	-	1	321	c.321T>C	c.(319-321)TGT>TGC	p.C107C	OR9Q1_uc001nmj.2_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I,	107	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Breast(21;0.0589)				CTGTGCCTGCACAGATGGTGA	0.542												
GLYATL2	219970	broad.mit.edu	37	11	58604809	58604809	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:58604809T>C	uc001nnd.3	-	4	379	c.248A>G	c.(247-249)GAC>GGC	p.D83G	GLYATL2_uc009ymq.2_Missense_Mutation_p.D83G	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	83						mitochondrion	glycine N-acyltransferase activity			ovary(1)|skin(1)	2		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	CTCTAATTTGTCAGGAGCTTT	0.378												
OR10V1	390201	broad.mit.edu	37	11	59480554	59480554	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:59480554G>A	uc001nof.1	-	1	765	c.765C>T	c.(763-765)TGC>TGT	p.C255C		NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V,	255	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TAAAGCTGGTGCAGCCATACT	0.522												
MRPL16	54948	broad.mit.edu	37	11	59574080	59574080	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:59574080G>A	uc001noh.2	-	4	710	c.496C>T	c.(496-498)CGT>TGT	p.R166C		NM_017840	NP_060310	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16 precursor	166							rRNA binding			central_nervous_system(1)	1						AATTCACAACGCCCACCCATC	0.552												
TMEM132A	54972	broad.mit.edu	37	11	60704376	60704376	+	Silent	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:60704376C>A	uc001nqj.2	+	11	3262	c.3069C>A	c.(3067-3069)TCC>TCA	p.S1023S	TMEM132A_uc001nqi.2_Silent_p.S1024S|TMEM132A_uc001nqm.2_Silent_p.S233S	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	1023	Cytoplasmic (Potential).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						GGGGCAGCTCCTGACCCTCCA	0.647												
SLC15A3	51296	broad.mit.edu	37	11	60707056	60707056	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:60707056T>C	uc001nqn.2	-	6	1565	c.1331A>G	c.(1330-1332)CAG>CGG	p.Q444R	SLC15A3_uc001nqo.2_Missense_Mutation_p.S388G	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	solute carrier family 15, member 3	444					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity				0						CCCAATCTGCTGGGACACGGT	0.577												
CD6	923	broad.mit.edu	37	11	60783258	60783258	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:60783258G>A	uc001nqq.2	+	9	1684	c.1461G>A	c.(1459-1461)GAG>GAA	p.E487E	CD6_uc001nqp.2_Silent_p.E487E|CD6_uc001nqr.2_Silent_p.E455E|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Intron	NM_006725	NP_006716	P30203	CD6_HUMAN	CD6 molecule precursor	487	Cytoplasmic (Potential).				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			pancreas(1)	1						CAGACTATGAGCACTATGACT	0.627												
DAK	26007	broad.mit.edu	37	11	61110231	61110231	+	Silent	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:61110231C>A	uc001nre.2	+	10	1037	c.780C>A	c.(778-780)TCC>TCA	p.S260S	DDB1_uc010rlf.1_5'Flank|DAK_uc009ynm.1_Silent_p.S190S	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2	260	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding				0						CCGCAGGCTCCTCAGTTGTGA	0.622												
AHNAK	79026	broad.mit.edu	37	11	62292451	62292451	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:62292451C>T	uc001ntl.2	-	5	9738	c.9438G>A	c.(9436-9438)TGG>TGA	p.W3146*	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3146					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TCTTCAGGTGCCAGTCTGGGC	0.488												
METTL12	751071	broad.mit.edu	37	11	62433383	62433383	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:62433383C>T	uc001nug.1	+	2	291	c.32C>T	c.(31-33)CCG>CTG	p.P11L	C11orf48_uc001nue.2_Intron|C11orf48_uc001nuf.2_Intron|METTL12_uc001nuh.2_5'UTR|METTL12_uc010rmc.1_RNA	NM_001043229	NP_001036694	A8MUP2	MTL12_HUMAN	methyltransferase like 12 precursor	11						mitochondrion	methyltransferase activity				0						CTCCACTTGCCGAGCCTGATG	0.632												
UBXN1	51035	broad.mit.edu	37	11	62446025	62446025	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:62446025A>G	uc001nul.1	-	3	294	c.162T>C	c.(160-162)ACT>ACC	p.T54T	UBXN1_uc001nuj.2_Silent_p.T54T|UBXN1_uc001num.1_Silent_p.T54T|UBXN1_uc001nuk.2_Silent_p.T19T|UBXN1_uc010rme.1_Silent_p.T54T|UBXN1_uc010rmf.1_Silent_p.T54T	NM_015853	NP_056937	Q04323	UBXN1_HUMAN	UBX domain protein 1	54	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding				0						GTCCAAGGGGAGTCTCTAAAG	0.612												
PLCB3	5331	broad.mit.edu	37	11	64026040	64026040	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:64026040C>T	uc001nzb.2	+	11	1108	c.1108C>T	c.(1108-1110)CCG>TCG	p.P370S	PLCB3_uc009ypg.1_Missense_Mutation_p.P370S|PLCB3_uc009yph.1_Missense_Mutation_p.P303S|PLCB3_uc009ypi.2_Missense_Mutation_p.P370S	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	370	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						GAAGGGACGGCCGCCTGAGGA	0.652												
GPR137	56834	broad.mit.edu	37	11	64054479	64054479	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:64054479C>T	uc001nzg.1	+	3	708	c.400C>T	c.(400-402)CGA>TGA	p.R134*	BAD_uc001nzd.2_5'Flank|BAD_uc001nzc.2_5'Flank|GPR137_uc009ypj.1_Nonsense_Mutation_p.R140*|BAD_uc009ypk.2_5'Flank|GPR137_uc010rni.1_Nonsense_Mutation_p.R192*|GPR137_uc001nze.1_Nonsense_Mutation_p.R134*|GPR137_uc001nzf.2_Nonsense_Mutation_p.R134*|GPR137_uc001nzh.1_Nonsense_Mutation_p.R134*|GPR137_uc001nzi.2_Nonsense_Mutation_p.R134*|GPR137_uc010rnj.1_Nonsense_Mutation_p.R134*	NM_020155	NP_064540	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	134	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(1)	1						GGAGATGAGCCGAGGCTTGTA	0.532												
SLC22A11	55867	broad.mit.edu	37	11	64329603	64329603	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:64329603G>A	uc001oai.2	+	3	999	c.625G>A	c.(625-627)GGC>AGC	p.G209S	SLC22A11_uc001oah.1_Missense_Mutation_p.R174Q|SLC22A11_uc001oaj.2_Missense_Mutation_p.G209S|SLC22A11_uc009ypq.2_Missense_Mutation_p.G209S|SLC22A11_uc001oak.1_Missense_Mutation_p.G38S	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	solute carrier family 22 member 11	209	Helical; (Potential).				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2					Probenecid(DB01032)	TGGGATGGCCGGCATCTTTCT	0.662											OREG0004030	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
NRXN2	9379	broad.mit.edu	37	11	64428294	64428294	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:64428294G>A	uc001oar.2	-	11	2555	c.2116C>T	c.(2116-2118)CGA>TGA	p.R706*	NRXN2_uc001oas.2_Nonsense_Mutation_p.R675*|NRXN2_uc001oaq.2_Nonsense_Mutation_p.R373*	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:Variant_position_missing_in_P58401_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						CAGCCTTCTCGACAGACGCCC	0.632												
C11orf2	738	broad.mit.edu	37	11	64878997	64878997	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:64878997C>T	uc001ocr.1	+	10	2327	c.2287C>T	c.(2287-2289)CGC>TGC	p.R763C	TM7SF2_uc001oct.2_5'Flank|TM7SF2_uc010rny.1_5'Flank|TM7SF2_uc001ocu.2_5'Flank|TM7SF2_uc001ocv.2_5'Flank|C11orf2_uc001ocs.1_Missense_Mutation_p.R639C	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	chromosome 11 open reading frame 2	763					lipid transport|protein transport	Golgi apparatus|integral to membrane					0						TGCTGCCCTGCGCTGCCCAGA	0.642												
PELI3	246330	broad.mit.edu	37	11	66241301	66241301	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:66241301G>A	uc001oic.3	+	7	909	c.745G>A	c.(745-747)GAG>AAG	p.E249K	PELI3_uc001oib.2_Missense_Mutation_p.E249K|PELI3_uc001oid.3_Missense_Mutation_p.E225K|PELI3_uc001oie.3_Missense_Mutation_p.E100K|PELI3_uc010rpd.1_Missense_Mutation_p.E90K	NM_145065	NP_659502	Q8N2H9	PELI3_HUMAN	pellino 3 alpha isoform 1	249						cytosol	protein binding			ovary(1)	1						CGGCTTCTCCGAGGACTCAGC	0.652												
DPP3	10072	broad.mit.edu	37	11	66262922	66262922	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:66262922C>T	uc001oig.1	+	14	1601	c.1539C>T	c.(1537-1539)AGC>AGT	p.S513S	DPP3_uc001oif.1_Silent_p.S513S|DPP3_uc010rpe.1_Silent_p.S502S|DPP3_uc001oih.1_5'Flank	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN	dipeptidyl peptidase III	513					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			ovary(1)|skin(1)	2						GGGCTGAGAGCGTGGGTCTCT	0.642												
SSH3	54961	broad.mit.edu	37	11	67076941	67076941	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:67076941C>T	uc001okj.2	+	11	1313	c.1135C>T	c.(1135-1137)CGC>TGC	p.R379C	SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_Missense_Mutation_p.R233C	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	slingshot homolog 3	379	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCACAATGTGCGCCTCTGGGA	0.617												
CARNS1	57571	broad.mit.edu	37	11	67191613	67191613	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:67191613C>T	uc009yrp.2	+	9	2477	c.2025C>T	c.(2023-2025)AAC>AAT	p.N675N	PPP1CA_uc001okx.1_5'Flank|CARNS1_uc001olc.3_Silent_p.N814N	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	ATP-grasp domain containing 1	675	ATP-grasp.				carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding				0						GAGTCTTCAACGTGGAGCTCA	0.627												
NUMA1	4926	broad.mit.edu	37	11	71725087	71725087	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:71725087C>T	uc001orl.1	-	15	3634	c.3462G>A	c.(3460-3462)CGG>CGA	p.R1154R	NUMA1_uc009ysw.1_Silent_p.R717R|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Silent_p.R1154R|NUMA1_uc001orn.2_Silent_p.R717R|NUMA1_uc009ysx.1_Silent_p.R1154R|NUMA1_uc001oro.1_Silent_p.R1154R	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1154	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						CCCGGGAGGCCCGCTCAGCCT	0.647			T	RARA	APL							
NUMA1	4926	broad.mit.edu	37	11	71725245	71725245	+	Missense_Mutation	SNP	C	C	T	rs140741340	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:71725245C>T	uc001orl.1	-	15	3476	c.3304G>A	c.(3304-3306)GCA>ACA	p.A1102T	NUMA1_uc009ysw.1_Missense_Mutation_p.A665T|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.A1102T|NUMA1_uc001orn.2_Missense_Mutation_p.A665T|NUMA1_uc009ysx.1_Missense_Mutation_p.A1102T|NUMA1_uc001oro.1_Missense_Mutation_p.A1102T	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1102	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						GAGCCAGATGCGTGCTCCTTT	0.577			T	RARA	APL							
C11orf51	25906	broad.mit.edu	37	11	71821248	71821248	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:71821248C>A	uc001orw.2	-	5	426	c.204G>T	c.(202-204)GAG>GAT	p.E68D	LRTOMT_uc010rqv.1_3'UTR|LRTOMT_uc010rqw.1_3'UTR|LRTOMT_uc001ors.3_3'UTR|C11orf51_uc009ytc.1_Missense_Mutation_p.E59D|C11orf51_uc001orv.2_Missense_Mutation_p.E68D	NM_014042	NP_054761	P60006	CK051_HUMAN	hypothetical protein LOC25906	68	Asp-rich.					intracellular					0						cttcatcatcctcttcttcct	0.348												
RELT	84957	broad.mit.edu	37	11	73106159	73106159	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:73106159G>A	uc001otv.2	+	10	1239	c.1074G>A	c.(1072-1074)CAG>CAA	p.Q358Q	RELT_uc001otw.2_Silent_p.Q358Q|RELT_uc001otx.2_RNA	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor precursor	358	Cytoplasmic (Potential).					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			upper_aerodigestive_tract(1)	1						tTCCTGAGCAGCGGACAAGTT	0.348												
RSF1	51773	broad.mit.edu	37	11	77386207	77386207	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:77386207G>A	uc001oyn.2	-	14	3556	c.3436C>T	c.(3436-3438)CGT>TGT	p.R1146C	RSF1_uc001oym.2_Missense_Mutation_p.R894C	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1146	Arg-rich.				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)			CTCAGTCTACGGCTACAAAAG	0.468												
KCTD21	283219	broad.mit.edu	37	11	77884897	77884897	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:77884897C>T	uc001ozb.2	-	2	779	c.704G>A	c.(703-705)GGC>GAC	p.G235D		NM_001029859	NP_001025030	Q4G0X4	KCD21_HUMAN	potassium channel tetramerisation domain	235						voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			GATGCAGAAGCCATCGCTCAG	0.473												
PRCP	5547	broad.mit.edu	37	11	82560971	82560971	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:82560971G>A	uc001ozs.2	-	5	849	c.736C>T	c.(736-738)CGA>TGA	p.R246*	PRCP_uc001ozr.2_Nonsense_Mutation_p.R267*	NM_005040	NP_005031	P42785	PCP_HUMAN	prolylcarboxypeptidase isoform 1 preproprotein	246	SKS domain.				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			skin(1)	1						TTTGAGAGTCGATTAATGGCA	0.353												
CCDC83	220047	broad.mit.edu	37	11	85622403	85622403	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:85622403A>T	uc001pbh.1	+	8	1264	c.752A>T	c.(751-753)GAT>GTT	p.D251V	CCDC83_uc001pbg.1_Missense_Mutation_p.D251V|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Missense_Mutation_p.D152V	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	251	Potential.									skin(1)	1		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GTGCTTATTGATCAACTATCC	0.333												
CCDC81	60494	broad.mit.edu	37	11	86123507	86123507	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:86123507C>A	uc001pbx.1	+	11	1725	c.1297C>A	c.(1297-1299)CTG>ATG	p.L433M	CCDC81_uc001pbw.1_Missense_Mutation_p.L343M|CCDC81_uc010rtq.1_Missense_Mutation_p.L216M|CCDC81_uc001pby.1_Missense_Mutation_p.L168M	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81 isoform 1	433										skin(1)	1		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CCGGAGTCTCCTGAAACAAAT	0.428												
CEP57	9702	broad.mit.edu	37	11	95564282	95564282	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:95564282A>G	uc001pfp.1	+	11	1586	c.1365A>G	c.(1363-1365)GGA>GGG	p.G455G	CEP57_uc010ruh.1_Silent_p.G446G|CEP57_uc010rui.1_Silent_p.G429G|CEP57_uc009ywn.1_Silent_p.G303G|CEP57_uc001pfq.1_Silent_p.G429G|CEP57_uc001pfr.1_Silent_p.G303G	NM_014679	NP_055494	Q86XR8	CEP57_HUMAN	translokin	455	Mediates interaction with microtubules (By similarity).|Potential.				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCCGTTCTGGAATCACAGGGA	0.378									Mosaic_Variegated_Aneuploidy_Syndrome			
CNTN5	53942	broad.mit.edu	37	11	100211310	100211310	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:100211310C>T	uc001pga.2	+	22	3185	c.2846C>T	c.(2845-2847)ACA>ATA	p.T949I	CNTN5_uc001pgb.2_Missense_Mutation_p.T875I|CNTN5_uc010ruk.1_Missense_Mutation_p.T220I	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	949	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TATCACTTCACAGTGAGGGCT	0.443												
DYNC2H1	79659	broad.mit.edu	37	11	103090682	103090682	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:103090682G>T	uc001pho.2	+	56	9015	c.8871G>T	c.(8869-8871)AAG>AAT	p.K2957N	DYNC2H1_uc001phn.1_Missense_Mutation_p.K2957N|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2957	Potential.|Stalk (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)		AAAGACTGAAGCACAGAATAG	0.269												
DYNC2H1	79659	broad.mit.edu	37	11	103128425	103128425	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:103128425G>A	uc001pho.2	+	69	10694	c.10550G>A	c.(10549-10551)CGT>CAT	p.R3517H	DYNC2H1_uc001phn.1_Missense_Mutation_p.R3524H|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3517					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)		AACATGTACCGTTTTAGTTTG	0.428												
NPAT	4863	broad.mit.edu	37	11	108031665	108031665	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:108031665C>T	uc001pjz.3	-	17	4250	c.4148G>A	c.(4147-4149)CGT>CAT	p.R1383H	NPAT_uc010rvv.1_Missense_Mutation_p.R439H	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	1383					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			ovary(2)	2		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ACTAGAAGGACGAGAGTTTCG	0.333												
DLAT	1737	broad.mit.edu	37	11	111922036	111922036	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:111922036G>A	uc001pmo.2	+	11	2136	c.1477G>A	c.(1477-1479)GAA>AAA	p.E493K	DLAT_uc009yyk.1_Missense_Mutation_p.E388K|DLAT_uc010rwr.1_Missense_Mutation_p.E366K	NM_001931	NP_001922	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase precursor	493	Catalytic (By similarity).				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding				0		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	AAAAGTTCCCGAAGCAAATTC	0.348												
DRD2	1813	broad.mit.edu	37	11	113286314	113286314	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:113286314A>G	uc001pnz.2	-	4	873	c.552T>C	c.(550-552)ATT>ATC	p.I184I	DRD2_uc010rwv.1_Silent_p.I183I|DRD2_uc001poa.3_Silent_p.I184I|DRD2_uc001pob.3_Silent_p.I184I|DRD2_uc009yyr.1_Silent_p.I184I	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	184	Extracellular (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)|skin(1)	2		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CCGGGTTGGCAATGATGCACT	0.582												
NNMT	4837	broad.mit.edu	37	11	114168792	114168792	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:114168792C>T	uc001por.1	+	4	538	c.274C>T	c.(274-276)CAG>TAG	p.Q92*	NNMT_uc001pos.1_Nonsense_Mutation_p.Q92*	NM_006169	NP_006160	P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	92					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			ovary(1)	1		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CCAGAACCTGCAGGAGCTGGA	0.517												
DSCAML1	57453	broad.mit.edu	37	11	117651330	117651330	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:117651330G>A	uc001prh.1	-	2	424	c.422C>T	c.(421-423)ACG>ATG	p.T141M	DSCAML1_uc001pri.1_Translation_Start_Site	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	81	Extracellular (Potential).|Ig-like C2-type 1.				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)		GAGCTGCAGCGTCCCGTTGGC	0.657												
TMPRSS4	56649	broad.mit.edu	37	11	117985906	117985906	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:117985906C>T	uc010rxo.1	+	11	1354	c.1063C>T	c.(1063-1065)CGG>TGG	p.R355W	TMPRSS4_uc010rxp.1_Missense_Mutation_p.R350W|TMPRSS4_uc010rxq.1_Missense_Mutation_p.R208W|TMPRSS4_uc010rxr.1_Missense_Mutation_p.R330W|TMPRSS4_uc010rxs.1_Missense_Mutation_p.R315W|TMPRSS4_uc009yzu.2_Intron|TMPRSS4_uc010rxt.1_Missense_Mutation_p.R330W	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4 isoform 1	355	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TGACAGCACACGGTGCAATGC	0.577												
CD3E	916	broad.mit.edu	37	11	118183570	118183570	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:118183570T>C	uc001psq.3	+	6	597	c.341T>C	c.(340-342)CTG>CCG	p.L114P	CD3E_uc010rya.1_Missense_Mutation_p.L114P	NM_000733	NP_000724	P07766	CD3E_HUMAN	CD3E antigen, epsilon polypeptide precursor	114	Extracellular (Potential).				G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity			ovary(2)	2	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;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	TATCTCTACCTGAGGGCAAGA	0.473												
OAF	220323	broad.mit.edu	37	11	120096485	120096485	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:120096485C>T	uc001pxb.2	+	2	588	c.347C>T	c.(346-348)GCC>GTC	p.A116V		NM_178507	NP_848602	Q86UD1	OAF_HUMAN	OAF homolog precursor	116											0		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		CCCAGTGAGGCCATGGCCAAG	0.672												
GRIK4	2900	broad.mit.edu	37	11	120702613	120702613	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:120702613G>A	uc001pxn.2	+	7	851	c.564G>A	c.(562-564)ACG>ACA	p.T188T	GRIK4_uc009zav.1_Silent_p.T188T|GRIK4_uc009zaw.1_Silent_p.T188T|GRIK4_uc009zax.1_Silent_p.T188T	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	188	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CCAAGGACACGCTGTCCGTCC	0.607												
TBCEL	219899	broad.mit.edu	37	11	120925921	120925921	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:120925921G>A	uc009zay.2	+	5	694	c.616G>A	c.(616-618)GTC>ATC	p.V206I	TBCEL_uc001pxo.2_Missense_Mutation_p.V206I|TBCEL_uc001pxp.2_Missense_Mutation_p.V62I|TBCEL_uc001pxq.2_Intron	NM_001130047	NP_001123519	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	206	LRR 6.					cytoplasm|cytoskeleton				skin(1)	1		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		GGATACCCTCGTCCTGGCCAA	0.428												
KCNJ1	3758	broad.mit.edu	37	11	128709289	128709289	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:128709289A>G	uc001qeo.1	-	2	958	c.907T>C	c.(907-909)TCC>CCC	p.S303P	KCNJ1_uc001qep.1_Missense_Mutation_p.S284P|KCNJ1_uc001qeq.1_Missense_Mutation_p.S284P|KCNJ1_uc001qer.1_Missense_Mutation_p.S284P|KCNJ1_uc001qes.1_Missense_Mutation_p.S284P	NM_000220	NP_000211	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel J1 isoform	303	Cytoplasmic (By similarity).				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			ovary(3)|breast(1)	4	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	GCACTGGTGGACTCCACTGTG	0.512												
ARHGAP32	9743	broad.mit.edu	37	11	128842510	128842510	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:128842510A>G	uc009zcp.2	-	21	3849	c.3849T>C	c.(3847-3849)GCT>GCC	p.A1283A	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Silent_p.A242A|ARHGAP32_uc001qez.2_Silent_p.A934A	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1283					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						TGGGTTGTTCAGCCACATCCC	0.562												
APLP2	334	broad.mit.edu	37	11	129992333	129992333	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:129992333T>C	uc010sby.1	+	6	1004	c.847T>C	c.(847-849)TAC>CAC	p.Y283H	APLP2_uc001qfp.2_Missense_Mutation_p.Y283H|APLP2_uc001qfq.2_Missense_Mutation_p.Y283H|APLP2_uc010sbz.1_Missense_Mutation_p.Y127H|APLP2_uc001qfr.2_Missense_Mutation_p.Y105H|APLP2_uc001qfs.2_Intron|APLP2_uc001qfv.2_Missense_Mutation_p.Y230H	NM_001642	NP_001633	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	283	Extracellular (Potential).				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			ovary(3)	3	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		AGGAGATGACTACAATGAGGA	0.363												
LRTM2	654429	broad.mit.edu	37	12	1943444	1943444	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:1943444G>A	uc001qjt.2	+	5	1476	c.670G>A	c.(670-672)GAC>AAC	p.D224N	CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.D224N|LRTM2_uc010sdx.1_Missense_Mutation_p.D224N|LRTM2_uc001qjv.2_5'UTR	NM_001039029	NP_001034118	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	224	LRRCT.|Extracellular (Potential).					integral to membrane				large_intestine(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GGGACGCTTGGACCAGCTTGC	0.592												
CACNA1C	775	broad.mit.edu	37	12	2566787	2566787	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:2566787C>T	uc009zdu.1	+	5	985	c.672C>T	c.(670-672)CTC>CTT	p.L224L	CACNA1C_uc009zdv.1_Silent_p.L224L|CACNA1C_uc001qkb.2_Silent_p.L224L|CACNA1C_uc001qkc.2_Silent_p.L224L|CACNA1C_uc001qke.2_Silent_p.L224L|CACNA1C_uc001qkf.2_Silent_p.L224L|CACNA1C_uc001qjz.2_Silent_p.L224L|CACNA1C_uc001qkd.2_Silent_p.L224L|CACNA1C_uc001qkg.2_Silent_p.L224L|CACNA1C_uc009zdw.1_Silent_p.L224L|CACNA1C_uc001qkh.2_Silent_p.L224L|CACNA1C_uc001qkl.2_Silent_p.L224L|CACNA1C_uc001qkn.2_Silent_p.L224L|CACNA1C_uc001qko.2_Silent_p.L224L|CACNA1C_uc001qkp.2_Silent_p.L224L|CACNA1C_uc001qkr.2_Silent_p.L224L|CACNA1C_uc001qku.2_Silent_p.L224L|CACNA1C_uc001qkq.2_Silent_p.L224L|CACNA1C_uc001qks.2_Silent_p.L224L|CACNA1C_uc001qkt.2_Silent_p.L224L|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_5'UTR|CACNA1C_uc001qkj.1_5'UTR|CACNA1C_uc001qkk.1_5'UTR|CACNA1C_uc001qkm.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	224	Extracellular (Potential).|I.				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CAAACGCTCTCGGAGGGAAAG	0.552												
CACNA1C	775	broad.mit.edu	37	12	2602496	2602496	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:2602496A>G	uc009zdu.1	+	7	1370	c.1057A>G	c.(1057-1059)ATG>GTG	p.M353V	CACNA1C_uc009zdv.1_Missense_Mutation_p.M350V|CACNA1C_uc001qkb.2_Missense_Mutation_p.M353V|CACNA1C_uc001qkc.2_Missense_Mutation_p.M353V|CACNA1C_uc001qke.2_Missense_Mutation_p.M353V|CACNA1C_uc001qkf.2_Missense_Mutation_p.M353V|CACNA1C_uc001qjz.2_Missense_Mutation_p.M353V|CACNA1C_uc001qkd.2_Missense_Mutation_p.M353V|CACNA1C_uc001qkg.2_Missense_Mutation_p.M353V|CACNA1C_uc009zdw.1_Missense_Mutation_p.M353V|CACNA1C_uc001qkh.2_Missense_Mutation_p.M353V|CACNA1C_uc001qkl.2_Missense_Mutation_p.M353V|CACNA1C_uc001qkn.2_Missense_Mutation_p.M353V|CACNA1C_uc001qko.2_Missense_Mutation_p.M353V|CACNA1C_uc001qkp.2_Missense_Mutation_p.M353V|CACNA1C_uc001qkr.2_Missense_Mutation_p.M353V|CACNA1C_uc001qku.2_Missense_Mutation_p.M353V|CACNA1C_uc001qkq.2_Missense_Mutation_p.M353V|CACNA1C_uc001qks.2_Missense_Mutation_p.M353V|CACNA1C_uc001qkt.2_Missense_Mutation_p.M353V|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Missense_Mutation_p.M89V|CACNA1C_uc001qkj.1_Missense_Mutation_p.M89V|CACNA1C_uc001qkk.1_Missense_Mutation_p.M89V|CACNA1C_uc001qkm.1_Missense_Mutation_p.M89V	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	353	I.|Extracellular (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGCCTTCGCCATGCTCACGGT	0.627												
CCND2	894	broad.mit.edu	37	12	4385203	4385203	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:4385203C>T	uc001qmo.2	+	2	533	c.228C>T	c.(226-228)GTC>GTT	p.V76V		NM_001759	NP_001750	P30279	CCND2_HUMAN	cyclin D2	76	Cyclin N-terminal.				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			haematopoietic_and_lymphoid_tissue(1)|breast(1)|kidney(1)	3			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			AAGAAGAGGTCTTCCCTCTGG	0.552			T	IGL@	NHL,CLL							
ACRBP	84519	broad.mit.edu	37	12	6752705	6752705	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:6752705C>T	uc001qpu.1	-	6	1125	c.1077G>A	c.(1075-1077)TCG>TCA	p.S359S	ACRBP_uc010sfg.1_Silent_p.S326S	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	proacrosin binding protein sp32 precursor	359						acrosomal vesicle|extracellular region				central_nervous_system(1)	1						GCTGGCATACCGACTTCCCGA	0.542												
MLF2	8079	broad.mit.edu	37	12	6861114	6861114	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:6861114G>A	uc010sfi.1	-	3	220	c.157C>T	c.(157-159)CCT>TCT	p.P53S	MLF2_uc001qqp.2_Missense_Mutation_p.P53S|MLF2_uc009zey.1_Missense_Mutation_p.P53S	NM_005439	NP_005430	Q15773	MLF2_HUMAN	myeloid leukemia factor 2	53					defense response	cytoplasm|nucleus	protein binding			large_intestine(1)	1						CGGCTGGCAGGCCTGGTCCCT	0.507												
TPI1	7167	broad.mit.edu	37	12	6978878	6978878	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:6978878G>A	uc001qrk.2	+	5	522	c.484G>A	c.(484-486)GTC>ATC	p.V162I	TPI1_uc010sfo.1_Missense_Mutation_p.V80I	NM_000365	NP_000356	P60174	TPIS_HUMAN	triosephosphate isomerase 1 isoform 1	162					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity				0						GAGCAAGGTCGTCCTGGCCTA	0.587											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NECAP1	25977	broad.mit.edu	37	12	8245544	8245544	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:8245544C>T	uc001qtx.2	+	6	647	c.569C>T	c.(568-570)CCG>CTG	p.P190L	NECAP1_uc001qty.2_Missense_Mutation_p.P48L	NM_015509	NP_056324	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	190					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				ovary(1)	1				Kidney(36;0.0915)		CTCCCACCCCCGCCAGGAGGC	0.512												
RIMKLB	57494	broad.mit.edu	37	12	8926004	8926004	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:8926004G>A	uc001quu.2	+	6	1036	c.785G>A	c.(784-786)GGC>GAC	p.G262D	RIMKLB_uc009zgf.1_RNA|RIMKLB_uc001qux.2_Missense_Mutation_p.G262D|RIMKLB_uc010sgl.1_Missense_Mutation_p.G262D|RIMKLB_uc001quw.2_Missense_Mutation_p.G262D	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family	262	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						GATGTGTGTGGCATTGATCTG	0.468												
A2M	2	broad.mit.edu	37	12	9246138	9246138	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:9246138C>T	uc001qvk.1	-	18	2276	c.2163G>A	c.(2161-2163)GTG>GTA	p.V721V	A2M_uc009zgk.1_Silent_p.V571V	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	721	Bait region.|Inhibitory.				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	CTTCAACATGCACCAGGCGTG	0.443												
PZP	5858	broad.mit.edu	37	12	9305467	9305467	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:9305467G>A	uc001qvl.2	-	31	4103	c.4074C>T	c.(4072-4074)TGC>TGT	p.C1358C	PZP_uc009zgl.2_Silent_p.C1144C	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						TGTGTCCATCGCAAGTTTGGG	0.438												
GABARAPL1	23710	broad.mit.edu	37	12	10374385	10374385	+	Splice_Site	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:10374385G>A	uc001qxs.2	+	4	529	c.289_splice	c.e4-1	p.D97_splice	GABARAPL1_uc001qxt.2_Splice_Site|GABARAPL1_uc001qxu.2_Splice_Site	NM_031412	NP_113600	Q9H0R8	GBRL1_HUMAN	GABA(A) receptor-associated protein like 1							autophagic vacuole|endoplasmic reticulum|Golgi apparatus|membrane|microtubule	beta-tubulin binding|GABA receptor binding				0						TCTTCCCCTAGGACAATCATG	0.284												
TAS2R50	259296	broad.mit.edu	37	12	11139175	11139175	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:11139175G>A	uc001qzl.2	-	1	337	c.285C>T	c.(283-285)AGC>AGT	p.S95S	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176890	NP_795371	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	95	Helical; Name=3; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			ovary(2)	2						CAAGCCACATGCTGAAATGGT	0.338												
PRB1	5542	broad.mit.edu	37	12	11506766	11506766	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:11506766G>A	uc001qzw.1	-	3	308	c.271C>T	c.(271-273)CGA>TGA	p.R91*	PRB1_uc001qzu.1_Nonsense_Mutation_p.R91*|PRB1_uc001qzv.1_Nonsense_Mutation_p.R91*	NM_005039	NP_005030	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1 isoform 1	152	5.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S).|Missing (in allele M).			extracellular region					0			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGAGGAGATCGGGGACTTCGG	0.612												
MANSC1	54682	broad.mit.edu	37	12	12491444	12491444	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:12491444G>A	uc001rai.1	-	3	532	c.274C>T	c.(274-276)CAA>TAA	p.Q92*	MANSC1_uc010shm.1_Nonsense_Mutation_p.Q26*|MANSC1_uc001raj.1_Nonsense_Mutation_p.Q58*|MANSC1_uc009zht.1_Nonsense_Mutation_p.Q11*	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	MANSC domain containing 1 precursor	92	MANSC.|Extracellular (Potential).					integral to membrane					0		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		CAGTTGGGTTGTCTAGCTGTT	0.393												
ATF7IP	55729	broad.mit.edu	37	12	14650841	14650841	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:14650841T>C	uc001rbw.2	+	15	3805	c.3647T>C	c.(3646-3648)ATT>ACT	p.I1216T	ATF7IP_uc001rbx.2_Missense_Mutation_p.I1215T|ATF7IP_uc001rby.3_Missense_Mutation_p.I1216T|ATF7IP_uc001rca.2_Missense_Mutation_p.I1216T	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	1216	Interaction with MBD1.|Fibronectin type-III.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						TGGAAAAAGATTGGGGAAGTC	0.483												
ABCC9	10060	broad.mit.edu	37	12	22005044	22005044	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:22005044T>C	uc001rfi.1	-	22	2776	c.2756A>G	c.(2755-2757)CAA>CGA	p.Q919R	ABCC9_uc001rfh.2_Missense_Mutation_p.Q919R|ABCC9_uc001rfj.1_Missense_Mutation_p.Q883R	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	919	Cytoplasmic (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTCTAATTCTTGATCTTGCCG	0.333												
ABCC9	10060	broad.mit.edu	37	12	22015949	22015949	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:22015949A>G	uc001rfi.1	-	18	2297	c.2277T>C	c.(2275-2277)CCT>CCC	p.P759P	ABCC9_uc001rfh.2_Silent_p.P759P|ABCC9_uc001rfj.1_Silent_p.P723P	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	759	Cytoplasmic (Potential).|ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTAATAGCCAAGGCTTTTGAG	0.338												
SOX5	6660	broad.mit.edu	37	12	23893839	23893839	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:23893839G>A	uc001rfw.2	-	5	805	c.703C>T	c.(703-705)CGT>TGT	p.R235C	SOX5_uc001rfx.2_Missense_Mutation_p.R222C|SOX5_uc001rfy.2_Missense_Mutation_p.R222C|SOX5_uc010siv.1_Missense_Mutation_p.R222C|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.R187C	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	235	Potential.				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						ATTTGCTGACGCTGTTTCTCA	0.493												
CASC1	55259	broad.mit.edu	37	12	25267796	25267796	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:25267796A>G	uc001rgl.2	-	12	1469	c.1387T>C	c.(1387-1389)TGG>CGG	p.W463R	CASC1_uc001rgk.2_Missense_Mutation_p.W469R|CASC1_uc001rgm.3_Missense_Mutation_p.W527R|CASC1_uc001rgj.2_Missense_Mutation_p.W423R|CASC1_uc010sje.1_Missense_Mutation_p.W404R|CASC1_uc010sjf.1_Missense_Mutation_p.W351R|CASC1_uc010sjg.1_3'UTR	NM_001082973	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1 isoform b	463										ovary(2)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TCAGTTCTCCAATGTTTACCT	0.343												
KRAS	3845	broad.mit.edu	37	12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	rs112445441		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:25398281C>T	uc001rgp.1	-	2	219	c.38G>A	c.(37-39)GGC>GAC	p.G13D	KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	13	GTP.		G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway).|G -> D (in a breast carcinoma cell line and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G13D(2647)|p.G13C(182)|p.G13S(58)|p.G13R(41)|p.G13V(27)|p.G13A(24)|p.G13G(11)|p.G13E(4)|p.G12_G13insG(4)|p.G13N(3)|p.G13I(1)|p.G13_V14>DI(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338	G13D(NCIH647_LUNG)|G13D(MDAMB231_BREAST)|G13D(NCIH747_LARGE_INTESTINE)|G13D(T84_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT15_LARGE_INTESTINE)|G13D(HCT116_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)		
IFLTD1	160492	broad.mit.edu	37	12	25679780	25679780	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:25679780G>T	uc001rgs.2	-	4	688	c.538C>A	c.(538-540)CAA>AAA	p.Q180K	IFLTD1_uc001rgt.1_Missense_Mutation_p.Q83K|IFLTD1_uc010sji.1_Missense_Mutation_p.Q201K|IFLTD1_uc010sjj.1_Missense_Mutation_p.Q117K|IFLTD1_uc009zjc.2_Missense_Mutation_p.Q201K	NM_152590	NP_689803	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	180						intermediate filament	structural molecule activity			ovary(2)|central_nervous_system(1)	3	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TTCACATTTTGCTGGAGAATA	0.373												
ARNTL2	56938	broad.mit.edu	37	12	27568857	27568857	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:27568857A>G	uc001rht.1	+	15	1660	c.1642A>G	c.(1642-1644)ACT>GCT	p.T548A	ARNTL2_uc001rhw.2_Missense_Mutation_p.T511A|ARNTL2_uc010sjp.1_Missense_Mutation_p.T511A|ARNTL2_uc001rhu.1_Missense_Mutation_p.T534A|ARNTL2_uc009zji.1_Missense_Mutation_p.T514A|ARNTL2_uc001rhv.1_Missense_Mutation_p.T500A|uc001rhx.2_Intron	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear	548					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|skin(1)	2	Colorectal(261;0.0847)|Lung SC(9;0.184)					AATGAAAGATACTCATACTGT	0.264												
PKP2	5318	broad.mit.edu	37	12	32996207	32996207	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:32996207G>A	uc001rlj.3	-	6	1534	c.1419C>T	c.(1417-1419)GGC>GGT	p.G473G	PKP2_uc001rlk.3_Intron|PKP2_uc010skj.1_Intron	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	473					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)					gagccaccgcgcccggccAGC	0.199												
ALG10	84920	broad.mit.edu	37	12	34179081	34179081	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:34179081A>T	uc001rlm.2	+	3	972	c.653A>T	c.(652-654)GAC>GTC	p.D218V		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	asparagine-linked glycosylation 10 homolog	218	Cytoplasmic (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			skin(1)	1	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				AAGAAGGAAGACAGACTTCCA	0.378												
ADAMTS20	80070	broad.mit.edu	37	12	43846079	43846079	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:43846079T>G	uc010skx.1	-	14	2077	c.2077A>C	c.(2077-2079)ATG>CTG	p.M693L		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	693	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTACTTACCATACACTGGCCT	0.313												
PLEKHA9	51054	broad.mit.edu	37	12	45567083	45567083	+	Missense_Mutation	SNP	C	C	T	rs150051178	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:45567083C>T	uc001rom.1	-	3	1603	c.1066G>A	c.(1066-1068)GTA>ATA	p.V356I	PLEKHA9_uc009zke.2_Missense_Mutation_p.V356I	NM_015899	NP_056983			pleckstrin homology domain containing, family A												0	Lung SC(27;0.192)|Renal(347;0.236)			GBM - Glioblastoma multiforme(48;0.173)		CCTTCCTTTACGGTTAACGCG	0.498												
PLEKHA9	51054	broad.mit.edu	37	12	45567160	45567160	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:45567160C>T	uc001rom.1	-	3	1526	c.989G>A	c.(988-990)GGC>GAC	p.G330D	PLEKHA9_uc009zke.2_Missense_Mutation_p.G330D	NM_015899	NP_056983			pleckstrin homology domain containing, family A												0	Lung SC(27;0.192)|Renal(347;0.236)			GBM - Glioblastoma multiforme(48;0.173)		AACTACCCAGCCATGGTGTTG	0.443												
ANO6	196527	broad.mit.edu	37	12	45803165	45803165	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:45803165T>C	uc001roo.2	+	16	2241	c.1906T>C	c.(1906-1908)TTT>CTT	p.F636L	ANO6_uc010sld.1_Missense_Mutation_p.F636L|ANO6_uc010sle.1_Missense_Mutation_p.F636L|ANO6_uc010slf.1_Missense_Mutation_p.F657L|ANO6_uc010slg.1_Missense_Mutation_p.F618L	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform a	636	Extracellular (Potential).				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2						AATTGGGCGATTTCACAGAGT	0.373												
SLC38A1	81539	broad.mit.edu	37	12	46622973	46622973	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:46622973C>T	uc001rpa.2	-	5	535	c.277G>A	c.(277-279)GCC>ACC	p.A93T	SLC38A1_uc001rpb.2_Missense_Mutation_p.A93T|SLC38A1_uc001rpc.2_Missense_Mutation_p.A93T|SLC38A1_uc001rpd.2_Missense_Mutation_p.A93T|SLC38A1_uc001rpe.2_Missense_Mutation_p.A93T|SLC38A1_uc010slh.1_Missense_Mutation_p.A66T|SLC38A1_uc009zkj.1_Missense_Mutation_p.A93T	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	amino acid transporter system A1	93	Helical; (Potential).				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			ovary(2)|skin(2)|central_nervous_system(1)	5	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			AGGGCAAAGGCGAGTCCCAAA	0.408												
FAM113B	91523	broad.mit.edu	37	12	47629502	47629502	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:47629502G>A	uc001rpn.2	+	4	1387	c.656G>A	c.(655-657)CGC>CAC	p.R219H	FAM113B_uc010slj.1_Missense_Mutation_p.R99H|FAM113B_uc001rpq.2_Missense_Mutation_p.R219H	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	hypothetical protein LOC91523	219							hydrolase activity			skin(3)|ovary(2)	5	Renal(347;0.138)|Lung SC(27;0.192)					TTCCACTTCCGCCACGCGAGG	0.602												
VDR	7421	broad.mit.edu	37	12	48238574	48238574	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:48238574C>T	uc001rqm.2	-	11	1521	c.1239G>A	c.(1237-1239)AAG>AAA	p.K413K	VDR_uc001rql.2_Silent_p.K463K|VDR_uc001rqn.2_Silent_p.K413K|VDR_uc010slq.1_Silent_p.K381K	NM_001017535	NP_001017535	P11473	VDR_HUMAN	vitamin D (1,25-dihydroxyvitamin D3) receptor	413	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GGGGCGTTAGCTTCATGCTGC	0.602												
WNT10B	7480	broad.mit.edu	37	12	49361733	49361733	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:49361733C>T	uc001rss.2	-	4	1053	c.707G>A	c.(706-708)CGC>CAC	p.R236H	WNT10B_uc001rst.2_Missense_Mutation_p.A189T	NM_003394	NP_003385	O00744	WN10B_HUMAN	wingless-type MMTV integration site family,	236					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			skin(4)|lung(3)	7						ACATACCTGGCGCCCCACCCT	0.512												
MLL2	8085	broad.mit.edu	37	12	49424718	49424718	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:49424718G>A	uc001rta.3	-	40	13629	c.13629C>T	c.(13627-13629)GAC>GAT	p.D4543D		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4543					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			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CCCTGACCCCGTCCTCCTTCC	0.622			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
MLL2	8085	broad.mit.edu	37	12	49434552	49434552	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:49434552C>T	uc001rta.3	-	31	7001	c.7001G>A	c.(7000-7002)CGG>CAG	p.R2334Q		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2334	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			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CTGAGATGCCCGAGGGGTCAG	0.637			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
DHH	50846	broad.mit.edu	37	12	49484980	49484980	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:49484980C>T	uc001rtf.2	-	2	803	c.496G>A	c.(496-498)GCA>ACA	p.A166T		NM_021044	NP_066382	O43323	DHH_HUMAN	desert hedgehog preproprotein	166					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			lung(1)|breast(1)	2						GCTTCCACTGCGAGGCGCGCC	0.602												
DNAJC22	79962	broad.mit.edu	37	12	49743155	49743155	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:49743155G>A	uc001rua.2	+	2	901	c.500G>A	c.(499-501)CGC>CAC	p.R167H	DNAJC22_uc001rub.2_Missense_Mutation_p.R167H	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	167					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			ovary(1)	1						CAGAGGCATCGCCGCTACAAA	0.567												
ACCN2	41	broad.mit.edu	37	12	50452564	50452564	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:50452564C>T	uc001rvw.2	+	2	244	c.15C>T	c.(13-15)GCC>GCT	p.A5A	ACCN2_uc001rvv.2_Silent_p.A5A|ACCN2_uc009zln.2_5'UTR|ACCN2_uc009zlo.2_Silent_p.A5A	NM_001095	NP_001086	P78348	ACCN2_HUMAN	amiloride-sensitive cation channel 2, neuronal	5	Cytoplasmic (By similarity).				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(1)	1					Amiloride(DB00594)	AACTGAAGGCCGAGGAGGAGG	0.617												
SLC11A2	4891	broad.mit.edu	37	12	51393164	51393164	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:51393164C>T	uc001rxe.3	-	7	668	c.571G>A	c.(571-573)GCA>ACA	p.A191T	SLC11A2_uc001rxd.3_Missense_Mutation_p.A40T|SLC11A2_uc001rxc.3_Missense_Mutation_p.A191T|SLC11A2_uc001rxf.2_RNA|SLC11A2_uc010smx.1_Missense_Mutation_p.A187T|SLC11A2_uc001rxh.1_Missense_Mutation_p.A191T|SLC11A2_uc001rxj.1_Missense_Mutation_p.A191T|SLC11A2_uc001rxi.2_Missense_Mutation_p.A191T|SLC11A2_uc001rxk.1_Missense_Mutation_p.A220T|SLC11A2_uc010smy.1_Missense_Mutation_p.A154T	NM_000617	NP_000608	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled	191	Helical; (Potential).				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|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|lead ion transmembrane transporter activity|manganese 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			large_intestine(1)	1						AAAGTATCTGCAATGGTGATG	0.458												
SLC11A2	4891	broad.mit.edu	37	12	51393180	51393180	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:51393180G>A	uc001rxe.3	-	7	652	c.555C>T	c.(553-555)GGC>GGT	p.G185G	SLC11A2_uc001rxd.3_Silent_p.G34G|SLC11A2_uc001rxc.3_Silent_p.G185G|SLC11A2_uc001rxf.2_RNA|SLC11A2_uc010smx.1_Silent_p.G181G|SLC11A2_uc001rxh.1_Silent_p.G185G|SLC11A2_uc001rxj.1_Silent_p.G185G|SLC11A2_uc001rxi.2_Silent_p.G185G|SLC11A2_uc001rxk.1_Silent_p.G214G|SLC11A2_uc010smy.1_Silent_p.G148G	NM_000617	NP_000608	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled	185	Helical; (Potential).				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|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|lead ion transmembrane transporter activity|manganese 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			large_intestine(1)	1						TGATGAGAACGCCACCCCACA	0.458												
KRT75	9119	broad.mit.edu	37	12	52826943	52826943	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:52826943G>A	uc001saj.2	-	2	614	c.592C>T	c.(592-594)CCC>TCC	p.P198S		NM_004693	NP_004684	O95678	K2C75_HUMAN	keratin 75	198	Linker 1.|Rod.					keratin filament	structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.192)		TCAAAGAGGGGCTCTAGGTTC	0.582												
KRT74	121391	broad.mit.edu	37	12	52962173	52962173	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:52962173G>A	uc001sap.1	-	7	1183	c.1135C>T	c.(1135-1137)CGT>TGT	p.R379C		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	keratin 6 irs4	379	Rod.|Coil 2.					keratin filament	structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.191)		AGGCTGGCACGCTGAAGGGCA	0.552												
ESPL1	9700	broad.mit.edu	37	12	53680232	53680232	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:53680232C>A	uc001sck.2	+	18	3803	c.3712C>A	c.(3712-3714)CCA>ACA	p.P1238T	ESPL1_uc001scj.2_Missense_Mutation_p.P913T|ESPL1_uc010soe.1_Intron	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1238					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						CCTGAACCAGCCATCAAACGA	0.542												
ESPL1	9700	broad.mit.edu	37	12	53681832	53681832	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:53681832G>A	uc001sck.2	+	19	4344	c.4253G>A	c.(4252-4254)CGG>CAG	p.R1418Q	ESPL1_uc001scj.2_Missense_Mutation_p.R1093Q|ESPL1_uc010soe.1_3'UTR	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1418					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						CCTAAGAGACGGGGCACTGCT	0.617											OREG0021863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ESPL1	9700	broad.mit.edu	37	12	53681905	53681905	+	Silent	SNP	A	A	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:53681905A>T	uc001sck.2	+	19	4417	c.4326A>T	c.(4324-4326)CCA>CCT	p.P1442P	ESPL1_uc001scj.2_Silent_p.P1117P|ESPL1_uc010soe.1_3'UTR	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1442					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						TGGTTGCCCCAGGTAGTGCCC	0.667											OREG0021863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ESPL1	9700	broad.mit.edu	37	12	53681913	53681913	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:53681913C>T	uc001sck.2	+	19	4425	c.4334C>T	c.(4333-4335)GCC>GTC	p.A1445V	ESPL1_uc001scj.2_Missense_Mutation_p.A1120V|ESPL1_uc010soe.1_3'UTR	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1445					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						CCAGGTAGTGCCCCTGGGAAC	0.667											OREG0021863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
AAAS	8086	broad.mit.edu	37	12	53701642	53701642	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:53701642G>A	uc001scr.3	-	15	1566	c.1403C>T	c.(1402-1404)GCC>GTC	p.A468V	AAAS_uc001scs.3_Missense_Mutation_p.A435V	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency,	468					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				ovary(1)	1						ACTGAGCAGGGCCCCTTTGTT	0.602												
SILV	6490	broad.mit.edu	37	12	56348059	56348059	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:56348059C>T	uc001sip.2	-	11	1956	c.1925G>A	c.(1924-1926)CGC>CAC	p.R642H	SILV_uc001siq.2_Missense_Mutation_p.R649H|SILV_uc010spx.1_Missense_Mutation_p.R556H|SILV_uc001sir.2_Missense_Mutation_p.R642H	NM_006928	NP_008859	P40967	PMEL_HUMAN	silver homolog	642	Cytoplasmic (Potential).				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding				0						GCAGAAGATGCGGGGTAGACG	0.527												
MIP	4284	broad.mit.edu	37	12	56847512	56847512	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:56847512C>T	uc001slh.2	-	2	420	c.388G>A	c.(388-390)GCA>ACA	p.A130T		NM_012064	NP_036196	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	130	Helical; (By similarity).				response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			skin(1)	1						ACTGTGGTTGCCTGGCCCACG	0.602												
NAB2	4665	broad.mit.edu	37	12	57486328	57486328	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:57486328G>A	uc001smz.2	+	3	1433	c.1055G>A	c.(1054-1056)CGA>CAA	p.R352Q		NM_005967	NP_005958	Q15742	NAB2_HUMAN	NGFI-A binding protein 2	352	NCD2.				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			upper_aerodigestive_tract(1)|ovary(1)	2						CAAGTAGCCCGAGAGAGCACC	0.552												
LRP1	4035	broad.mit.edu	37	12	57574224	57574224	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:57574224G>A	uc001snd.2	+	32	5814	c.5348G>A	c.(5347-5349)CGG>CAG	p.R1783Q		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1783	Extracellular (Potential).|LDL-receptor class B 16.				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)	GATGCCATGCGGAGCCAGCTG	0.617												
MBD6	114785	broad.mit.edu	37	12	57921419	57921419	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:57921419C>A	uc001soj.1	+	8	2436	c.2212C>A	c.(2212-2214)CCT>ACT	p.P738T	MBD6_uc001sok.1_Missense_Mutation_p.P605T|MBD6_uc001sol.1_RNA	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	738	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4						ACTCCTTAGCCCTCTGCTGGG	0.582												
SLC26A10	65012	broad.mit.edu	37	12	58015593	58015593	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:58015593C>A	uc001spe.2	+	4	987	c.676C>A	c.(676-678)CTA>ATA	p.L226I	SLC26A10_uc001spf.2_RNA|SLC26A10_uc009zpz.1_5'Flank	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	226						integral to membrane	antiporter activity			large_intestine(1)|central_nervous_system(1)	2	Melanoma(17;0.122)					CCGAGACCGGCTACCCACGCC	0.692											OREG0021948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
AGAP2	116986	broad.mit.edu	37	12	58121846	58121846	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:58121846G>A	uc001spq.2	-	15	2640	c.2640C>T	c.(2638-2640)ATC>ATT	p.I880I	AGAP2_uc001spo.1_5'Flank|AGAP2_uc001spp.2_Silent_p.I879I|AGAP2_uc001spr.2_Silent_p.I524I|LOC100130776_uc001sps.3_3'UTR	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	880	PH.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			central_nervous_system(3)|breast(2)	5						TGCTGGACACGATCAGGAACT	0.577												
MON2	23041	broad.mit.edu	37	12	62979234	62979234	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:62979234T>C	uc001sre.2	+	33	5251	c.4860T>C	c.(4858-4860)CAT>CAC	p.H1620H	MON2_uc009zqj.2_Silent_p.H1620H|MON2_uc010ssl.1_Silent_p.H1548H|MON2_uc010ssm.1_Silent_p.H1591H|MON2_uc010ssn.1_Silent_p.H1614H|MON2_uc001srf.2_Silent_p.H1383H|MON2_uc001srg.2_Silent_p.H489H	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	1621					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		ATGTACTACATCGCTATATAG	0.348												
NUP107	57122	broad.mit.edu	37	12	69109410	69109410	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:69109410C>A	uc001suf.2	+	12	1088	c.973C>A	c.(973-975)CCT>ACT	p.P325T	NUP107_uc001sug.2_Missense_Mutation_p.P172T|NUP107_uc010stj.1_Missense_Mutation_p.P296T	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	325					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			skin(1)	1	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CTTACAGGACCCTGATGCTCC	0.353												
CCT2	10576	broad.mit.edu	37	12	69980567	69980567	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:69980567T>C	uc001svb.1	+	3	207	c.113T>C	c.(112-114)TTG>TCG	p.L38S	CCT2_uc009zrm.1_RNA|CCT2_uc009zrn.1_Missense_Mutation_p.L38S|CCT2_uc010stl.1_5'UTR	NM_006431	NP_006422	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2	38					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			ATTGGAGACTTGGTAAAGAGC	0.338												
TBC1D15	64786	broad.mit.edu	37	12	72307610	72307610	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:72307610T>C	uc001swu.2	+	13	1431	c.1422T>C	c.(1420-1422)TAT>TAC	p.Y474Y	TBC1D15_uc010stt.1_Silent_p.Y443Y|TBC1D15_uc001swv.2_Silent_p.Y457Y|TBC1D15_uc001sww.2_Silent_p.Y206Y	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15 isoform 1	452	Rab-GAP TBC.						protein binding|Rab GTPase activator activity				0						TTTTAGGATATGTTCAAGGAA	0.353												
E2F7	144455	broad.mit.edu	37	12	77444494	77444494	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:77444494C>T	uc001sym.3	-	4	636	c.400G>A	c.(400-402)GAA>AAA	p.E134K	E2F7_uc001syn.2_Missense_Mutation_p.E134K	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	134					cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						TTTTCAAATTCGTCCACAGCA	0.458												
PPP1R12A	4659	broad.mit.edu	37	12	80328667	80328667	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:80328667T>C	uc001syz.2	-	1	312	c.45A>G	c.(43-45)AAA>AAG	p.K15K	PPP1R12A_uc001sza.2_Silent_p.K15K|PPP1R12A_uc010sud.1_Silent_p.K15K|PPP1R12A_uc001szb.2_Silent_p.K15K|PPP1R12A_uc001szc.2_Silent_p.K15K	NM_002480	NP_002471	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	15						contractile fiber	protein binding|signal transducer activity			ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						CGATCCAGCGTTTCAGCTGCT	0.547												
DUSP6	1848	broad.mit.edu	37	12	89744647	89744647	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:89744647G>A	uc001tay.2	-	2	1036	c.556C>T	c.(556-558)CGA>TGA	p.R186*	DUSP6_uc001taz.2_Intron	NM_001946	NP_001937	Q16828	DUS6_HUMAN	dual specificity phosphatase 6 isoform a	186					dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|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|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0						TTGGGGTCTCGGTCAAGGTCA	0.617												
DCN	1634	broad.mit.edu	37	12	91552114	91552114	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:91552114C>T	uc001tbs.2	-	3	591	c.497G>A	c.(496-498)CGA>CAA	p.R166Q	DCN_uc001tbo.2_Intron|DCN_uc001tbp.2_Intron|DCN_uc001tbq.2_Intron|DCN_uc001tbr.2_Intron|DCN_uc001tbt.2_Missense_Mutation_p.R166Q|DCN_uc001tbu.2_Missense_Mutation_p.R166Q	NM_133503	NP_598010	P07585	PGS2_HUMAN	decorin isoform a preproprotein	166	LRR 5.				organ morphogenesis	extracellular space				central_nervous_system(2)|ovary(1)|lung(1)	4						AGTAACTTTTCGCACTTTGGT	0.378												
C12orf63	374467	broad.mit.edu	37	12	97079013	97079013	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:97079013C>T	uc001tet.1	+	9	1364	c.1286C>T	c.(1285-1287)GCA>GTA	p.A429V		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	429										skin(6)|ovary(1)	7						GCAAAGATAGCACAGTGAGTG	0.507												
UHRF1BP1L	23074	broad.mit.edu	37	12	100452815	100452815	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:100452815A>G	uc001tgq.2	-	14	2469	c.2240T>C	c.(2239-2241)GTA>GCA	p.V747A	UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.V397A	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	747										ovary(2)	2						ATTTAGAGATACCTGATTACA	0.418												
SLC17A8	246213	broad.mit.edu	37	12	100790165	100790165	+	Silent	SNP	A	A	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:100790165A>C	uc010svi.1	+	5	959	c.646A>C	c.(646-648)AGA>CGA	p.R216R	SLC17A8_uc009ztx.2_Silent_p.R216R	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (sodium-dependent	216	Cytoplasmic (Potential).				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)	3						ACCTTTGGAGAGAAGCCGACT	0.398												
TCP11L2	255394	broad.mit.edu	37	12	106715425	106715425	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:106715425C>T	uc001tln.2	+	5	750	c.576C>T	c.(574-576)CCC>CCT	p.P192P	TCP11L2_uc001tll.2_Silent_p.P192P|TCP11L2_uc001tlm.2_Silent_p.P192P	NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	t-complex 11 (mouse) like 2	192										ovary(3)	3						TGTGTGCTCCCGTGCGAGATA	0.488												
BTBD11	121551	broad.mit.edu	37	12	108011205	108011205	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:108011205C>T	uc001tmk.1	+	9	2744	c.2223C>T	c.(2221-2223)CAC>CAT	p.H741H	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.2_Silent_p.H741H|BTBD11_uc001tml.1_Silent_p.H278H	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	741	ANK 4.					integral to membrane	DNA binding			skin(2)|ovary(1)	3						CTGCAGCCCACGGACACAGGT	0.408												
WSCD2	9671	broad.mit.edu	37	12	108603945	108603945	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:108603945G>A	uc001tms.2	+	4	1289	c.545G>A	c.(544-546)GGC>GAC	p.G182D	WSCD2_uc001tmt.2_Missense_Mutation_p.G182D	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	182	WSC 1.					integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3						TGCTACTGCGGCCACAAGATC	0.672												
SART3	9733	broad.mit.edu	37	12	108942899	108942899	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:108942899C>T	uc001tmz.1	-	2	639	c.404G>A	c.(403-405)CGC>CAC	p.R135H	SART3_uc009zux.1_5'UTR|SART3_uc010swx.1_Missense_Mutation_p.R135H|SART3_uc010swy.1_Missense_Mutation_p.R3H|SART3_uc010swz.1_Missense_Mutation_p.R135H|SART3_uc001tna.1_RNA	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	135	HAT 1.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1						CATCTTCTGGCGGGCCATCCT	0.458									Porokeratosis			
SART3	9733	broad.mit.edu	37	12	108954646	108954646	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:108954646C>T	uc001tmz.1	-	1	520	c.285G>A	c.(283-285)CAG>CAA	p.Q95Q	SART3_uc009zux.1_5'UTR|SART3_uc010swx.1_Silent_p.Q95Q|SART3_uc010swz.1_Silent_p.Q95Q|SART3_uc001tna.1_RNA|SART3_uc001tnb.2_Silent_p.Q95Q|ISCU_uc010sxa.1_5'Flank|ISCU_uc010sxb.1_5'Flank|ISCU_uc001tnc.3_5'Flank|ISCU_uc010sxc.1_5'Flank|ISCU_uc009zuy.2_5'Flank|ISCU_uc010sxd.1_5'Flank	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	95	Potential.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1						CAATCTCCAGCTGGTTTTTCT	0.632									Porokeratosis			
GPN3	51184	broad.mit.edu	37	12	110897617	110897617	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:110897617G>A	uc001tqr.2	-	3	264	c.208C>T	c.(208-210)CGA>TGA	p.R70*	GPN3_uc001tqs.2_Nonsense_Mutation_p.R80*	NM_016301	NP_057385	Q9UHW5	GPN3_HUMAN	GPN-loop GTPase 3 isoform 1	70						protein complex	GTP binding				0						GGACCGAATCGCAGAGAATCA	0.448												
TCTN1	79600	broad.mit.edu	37	12	111085688	111085688	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:111085688G>A	uc009zvs.2	+	14	1863	c.1755G>A	c.(1753-1755)CCG>CCA	p.P585P	TCTN1_uc001trp.3_Silent_p.P571P|TCTN1_uc001trn.3_Silent_p.P590P|TCTN1_uc001trk.3_RNA|HVCN1_uc001trq.1_Intron	NM_001082537	NP_001076006	Q2MV58	TECT1_HUMAN	tectonic family member 1 isoform 2	585					multicellular organismal development	extracellular region					0						TCTTCTTCCCGTTTGTTTGAC	0.532												
ACAD10	80724	broad.mit.edu	37	12	112171759	112171759	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:112171759C>T	uc001tsq.2	+	11	1627	c.1427C>T	c.(1426-1428)CCA>CTA	p.P476L	ACAD10_uc001tsp.2_Missense_Mutation_p.P476L|ACAD10_uc009zvx.2_Missense_Mutation_p.P507L|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	476							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						CCAGAAGAGCCAGAGGTGCTT	0.537												
NOS1	4842	broad.mit.edu	37	12	117723955	117723955	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:117723955C>T	uc001twm.1	-	6	1930	c.1244G>A	c.(1243-1245)CGG>CAG	p.R415Q		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	415					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CGAGGCATTCCGCCAGGCGTG	0.547												
GCN1L1	10985	broad.mit.edu	37	12	120589033	120589033	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:120589033C>T	uc001txo.2	-	34	4238	c.4225G>A	c.(4225-4227)GGC>AGC	p.G1409S		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	1409					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAGAGGATGCCCAGGCCCTTC	0.597												
SIRT4	23409	broad.mit.edu	37	12	120750802	120750802	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:120750802G>A	uc001tyc.2	+	4	928	c.908G>A	c.(907-909)CGT>CAT	p.R303H		NM_012240	NP_036372	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	303	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGAATTCTCGTTGTGGAGAG	0.488												
C12orf43	64897	broad.mit.edu	37	12	121448638	121448638	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:121448638G>A	uc001tzh.1	-	3	303	c.280C>T	c.(280-282)CTG>TTG	p.L94L	C12orf43_uc009zxa.1_Silent_p.L125L|C12orf43_uc010szo.1_Silent_p.L52L|C12orf43_uc010szp.1_Silent_p.L94L|C12orf43_uc001tzi.1_Silent_p.L94L	NM_022895	NP_075046	Q96C57	CL043_HUMAN	hypothetical protein LOC64897	94											0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TACCTGTCCAGCAGGGCTCCC	0.403												
LRRC43	254050	broad.mit.edu	37	12	122677528	122677528	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:122677528T>A	uc009zxm.2	+	7	1351	c.1326T>A	c.(1324-1326)GAT>GAA	p.D442E	LRRC43_uc001ubw.3_Missense_Mutation_p.D257E|LRRC43_uc009zxn.2_Missense_Mutation_p.D203E	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	442											0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TGCGTATAGATCCCCGGCTCT	0.597												
KNTC1	9735	broad.mit.edu	37	12	123060124	123060124	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:123060124C>T	uc001ucv.2	+	28	2580	c.2417C>T	c.(2416-2418)GCG>GTG	p.A806V	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	806					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)		ATCATGTATGCGGCAGTGGTT	0.478												
AACS	65985	broad.mit.edu	37	12	125613986	125613986	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:125613986C>T	uc001uhc.2	+	14	1735	c.1529C>T	c.(1528-1530)GCG>GTG	p.A510V	AACS_uc001uhd.2_Missense_Mutation_p.A510V|AACS_uc009zyh.2_Intron|AACS_uc009zyi.2_Missense_Mutation_p.A108V	NM_023928	NP_076417	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	510					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			ovary(1)|liver(1)|central_nervous_system(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TACAGGAAGGCGTATTTCTCC	0.567												
TMEM132B	114795	broad.mit.edu	37	12	126004054	126004054	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:126004054G>A	uc001uhe.1	+	4	1169	c.1161G>A	c.(1159-1161)GGG>GGA	p.G387G		NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	387	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACCTGGCTGGGGCCCAGCAGA	0.493												
TMEM132D	121256	broad.mit.edu	37	12	130184915	130184915	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:130184915G>A	uc009zyl.1	-	2	736	c.408C>T	c.(406-408)GAC>GAT	p.D136D		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	136	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGTAGACTTTGTCCCGCAGGA	0.542												
SFRS8	6433	broad.mit.edu	37	12	132238992	132238992	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:132238992G>A	uc001uja.1	+	9	1542	c.1402G>A	c.(1402-1404)GCC>ACC	p.A468T	SFRS8_uc010tbn.1_Missense_Mutation_p.A468T|SFRS8_uc001ujb.1_Missense_Mutation_p.A261T|SFRS8_uc001uiz.1_Missense_Mutation_p.A342T	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	468	SURP motif 2.				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		CGAGTATGTCGCCAGGAACGG	0.547												
SFRS8	6433	broad.mit.edu	37	12	132281835	132281835	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:132281835G>A	uc001uja.1	+	16	2787	c.2647G>A	c.(2647-2649)GCG>ACG	p.A883T	SFRS8_uc010tbn.1_Missense_Mutation_p.A935T	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	883	Arg/Ser-rich (RS domain).				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		cgcggcccccgcggcccACTC	0.557												
EP400	57634	broad.mit.edu	37	12	132514298	132514298	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:132514298C>T	uc001ujn.2	+	27	5469	c.5434C>T	c.(5434-5436)CCG>TCG	p.P1812S	EP400_uc001ujl.2_Missense_Mutation_p.P1811S|EP400_uc001ujm.2_Missense_Mutation_p.P1731S|SNORA49_uc001ujo.2_5'Flank	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1848					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)		CCTACGGGTGCCGCGGCCGCC	0.637												
ZMYM5	9205	broad.mit.edu	37	13	20399055	20399055	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:20399055C>T	uc010tcn.1	-	8	1837	c.1572G>A	c.(1570-1572)ACG>ACA	p.T524T	ZMYM5_uc001umm.1_Silent_p.T348T	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	zinc finger protein 237 isoform 3	524						nucleus	zinc ion binding				0		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ttcggggccacgtacctggat	0												
ZMYM5	9205	broad.mit.edu	37	13	20426142	20426142	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:20426142A>T	uc010tcn.1	-	3	444	c.179T>A	c.(178-180)GTT>GAT	p.V60D	ZMYM5_uc001umm.1_Translation_Start_Site|ZMYM5_uc001umn.2_Missense_Mutation_p.V60D|ZMYM5_uc001umo.2_Missense_Mutation_p.V60D	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	zinc finger protein 237 isoform 3	60						nucleus	zinc ion binding				0		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		AATAAACACAAcatcatcatc	0.338												
ZMYM2	7750	broad.mit.edu	37	13	20577064	20577064	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:20577064G>A	uc001umr.2	+	5	1220	c.922G>A	c.(922-924)GCC>ACC	p.A308T	ZMYM2_uc001umq.2_Missense_Mutation_p.A221T|ZMYM2_uc001ums.2_Missense_Mutation_p.A308T|ZMYM2_uc001umt.2_Missense_Mutation_p.A308T|ZMYM2_uc009zzn.1_Missense_Mutation_p.A243T	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	308					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)		ATCACCAGTGGCCTCACTTCC	0.433												
ZMYM2	7750	broad.mit.edu	37	13	20625630	20625630	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:20625630C>T	uc001umr.2	+	14	2648	c.2350C>T	c.(2350-2352)CGT>TGT	p.R784C	ZMYM2_uc001ums.2_Missense_Mutation_p.R784C|ZMYM2_uc001umt.2_Missense_Mutation_p.R784C|ZMYM2_uc010tco.1_RNA|ZMYM2_uc001umv.2_Missense_Mutation_p.R164C|ZMYM2_uc001umw.2_Missense_Mutation_p.R237C	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	784					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)		AGTTCAGTGGCGTGGGGAAAT	0.378												
ZMYM2	7750	broad.mit.edu	37	13	20641139	20641139	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:20641139T>C	uc001umr.2	+	21	3579	c.3281T>C	c.(3280-3282)GTA>GCA	p.V1094A	ZMYM2_uc001ums.2_Missense_Mutation_p.V1094A|ZMYM2_uc001umt.2_Missense_Mutation_p.V1094A|ZMYM2_uc001umv.2_Missense_Mutation_p.V474A|ZMYM2_uc001umw.2_Missense_Mutation_p.V547A	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	1094					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)		GATCTTCTGGTATTAGATGAG	0.308												
SPATA13	221178	broad.mit.edu	37	13	24858406	24858406	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:24858406T>C	uc001upg.1	+	4	830	c.423T>C	c.(421-423)AAT>AAC	p.N141N	SPATA13_uc001upd.1_Silent_p.N766N|C1QTNF9_uc001upe.2_RNA|SPATA13_uc010tcy.1_Silent_p.N87N|SPATA13_uc010tcz.1_Silent_p.N87N|SPATA13_uc010tda.1_Silent_p.N85N|SPATA13_uc001uph.2_Silent_p.N63N|SPATA13_uc010tdb.1_Silent_p.N63N	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	141	ABR (APC-binding region) domain.				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGGCCATCAATGAGGTACTGG	0.428												
SPATA13	221178	broad.mit.edu	37	13	24861032	24861032	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:24861032C>T	uc001upg.1	+	6	1143	c.736C>T	c.(736-738)CGG>TGG	p.R246W	SPATA13_uc001upd.1_Missense_Mutation_p.R871W|C1QTNF9_uc001upe.2_RNA|SPATA13_uc010tcy.1_Missense_Mutation_p.R192W|SPATA13_uc010tcz.1_Intron|SPATA13_uc010tda.1_Missense_Mutation_p.R190W|SPATA13_uc001uph.2_Missense_Mutation_p.R168W|SPATA13_uc010tdb.1_Intron|SPATA13_uc009zzz.1_5'Flank	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	246	DH.				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CAACGTCATCCGGGAGATCAT	0.602												
PAN3	255967	broad.mit.edu	37	13	28841313	28841313	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:28841313G>A	uc001urz.2	+	10	1225	c.1217G>A	c.(1216-1218)CGT>CAT	p.R406H	PAN3_uc010tdo.1_Missense_Mutation_p.R552H|PAN3_uc001ury.2_Missense_Mutation_p.R240H|PAN3_uc001urx.2_Missense_Mutation_p.R352H	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	552	Protein kinase.|Interaction with PAN2.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GTAACTTTGCGTGAAGTATTT	0.378												
SLC7A1	6541	broad.mit.edu	37	13	30091734	30091734	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:30091734C>T	uc001uso.2	-	10	1873	c.1486G>A	c.(1486-1488)GTG>ATG	p.V496M		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	496	Helical; (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity				0		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GAAATGTTCACAATTAGCCCA	0.493												
USPL1	10208	broad.mit.edu	37	13	31205139	31205139	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:31205139C>T	uc001utc.2	+	4	828	c.396C>T	c.(394-396)GAC>GAT	p.D132D	USPL1_uc001utb.2_Translation_Start_Site|USPL1_uc001utd.2_Intron	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	132					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			pancreas(2)|skin(1)	3		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TTGCTATTGACGGTGGAAAAG	0.368												
SOHLH2	54937	broad.mit.edu	37	13	36776105	36776105	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:36776105C>T	uc001uvj.2	-	2	263	c.174G>A	c.(172-174)GCG>GCA	p.A58A	SOHLH2_uc010tei.1_Silent_p.A135A	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	58					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CATCCAAAAGCGCTGCTGCCT	0.453												
SPG20	23111	broad.mit.edu	37	13	36888477	36888477	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:36888477C>T	uc001uvn.2	-	7	1640	c.1370G>A	c.(1369-1371)CGA>CAA	p.R457Q	SPG20_uc010ten.1_Missense_Mutation_p.R447Q|SPG20_uc001uvm.2_Missense_Mutation_p.R457Q|SPG20_uc001uvo.2_Missense_Mutation_p.R457Q|SPG20_uc001uvq.2_Missense_Mutation_p.R457Q	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	457					cell death	cytoplasm	ubiquitin protein ligase binding				0		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)		AATCCGCTCTCGGAGTTTAGA	0.448												
FAM48A	55578	broad.mit.edu	37	13	37598478	37598478	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:37598478T>C	uc001uwg.2	-	18	1679	c.1431A>G	c.(1429-1431)TCA>TCG	p.S477S	FAM48A_uc010abt.2_Silent_p.S478S|FAM48A_uc001uwh.2_Silent_p.S478S|FAM48A_uc001uwi.2_Silent_p.S477S|FAM48A_uc001uwj.2_Silent_p.S478S|FAM48A_uc001uwk.2_Silent_p.S477S|FAM48A_uc010tes.1_Silent_p.S441S|FAM48A_uc001uwl.1_Silent_p.S477S|FAM48A_uc001uwd.2_5'Flank|FAM48A_uc001uwe.2_5'UTR|FAM48A_uc001uwf.2_Silent_p.S55S	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A	477					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)		ATGTAATACCTGAGGAACTAT	0.363												
POSTN	10631	broad.mit.edu	37	13	38161966	38161966	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:38161966G>T	uc001uwo.3	-	5	717	c.599C>A	c.(598-600)CCT>CAT	p.P200H	POSTN_uc001uwp.3_Missense_Mutation_p.P200H|POSTN_uc001uwr.2_Missense_Mutation_p.P200H|POSTN_uc001uwq.2_Missense_Mutation_p.P200H|POSTN_uc010teu.1_Missense_Mutation_p.P200H|POSTN_uc010tev.1_Missense_Mutation_p.P200H|POSTN_uc010tew.1_Missense_Mutation_p.P200H|POSTN_uc010tex.1_Missense_Mutation_p.P115H	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	200	FAS1 1.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TACCCCATTAGGATAATGGTT	0.269												
C13orf23	80209	broad.mit.edu	37	13	39588012	39588012	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:39588012G>A	uc001uwy.2	-	11	2250	c.1377C>T	c.(1375-1377)GCC>GCT	p.A459A	C13orf23_uc001uwz.2_Silent_p.A437A	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	459	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)		CAAGTGGACCGGCAACGCTGG	0.493												
COG6	57511	broad.mit.edu	37	13	40268797	40268797	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:40268797T>C	uc001uxh.2	+	12	1201	c.1101T>C	c.(1099-1101)GCT>GCC	p.A367A	COG6_uc001uxi.2_Silent_p.A315A|COG6_uc010acb.2_Silent_p.A367A	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6 isoform	367					protein transport	Golgi membrane|Golgi transport complex				kidney(1)|skin(1)	2		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TAATAGTTGCTGAACCTGGGG	0.294												
ZC3H13	23091	broad.mit.edu	37	13	46549634	46549634	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:46549634C>T	uc010tfw.1	-	11	2258	c.2252G>A	c.(2251-2253)CGA>CAA	p.R751Q	ZC3H13_uc001vas.1_Missense_Mutation_p.R751Q|ZC3H13_uc001vat.1_Missense_Mutation_p.R751Q	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	751	Arg/Glu-rich.|Potential.						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)		ttctctttctcgttcccgttc	0.1												
NEK5	341676	broad.mit.edu	37	13	52639603	52639603	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:52639603G>C	uc001vge.2	-	22	2207	c.2067C>G	c.(2065-2067)AGC>AGG	p.S689R		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	689							ATP binding|metal ion binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)	1		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GACGACTGACGCTAAGCACAG	0.552												
MYCBP2	23077	broad.mit.edu	37	13	77663139	77663139	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:77663139G>A	uc001vkf.2	-	62	10530	c.10439C>T	c.(10438-10440)CCG>CTG	p.P3480L	MYCBP2_uc010aev.2_Missense_Mutation_p.P2884L|MYCBP2_uc001vke.2_Missense_Mutation_p.P100L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTCAGGAGACGGATGTCTCAA	0.333												
UGGT2	55757	broad.mit.edu	37	13	96665657	96665657	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:96665657G>A	uc001vmt.2	-	5	734	c.564C>T	c.(562-564)GCC>GCT	p.A188A	UGGT2_uc010afo.2_RNA|UGGT2_uc001vmv.2_Silent_p.A188A|UGGT2_uc010afp.2_Silent_p.A188A	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	UDP-glucose ceramide glucosyltransferase-like 2	188					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			ovary(2)|central_nervous_system(1)	3						TACCCATTTCGGCATAGAGAA	0.338												
OXGR1	27199	broad.mit.edu	37	13	97639911	97639911	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:97639911A>G	uc001vmx.1	-	4	347	c.103T>C	c.(103-105)TAC>CAC	p.Y35H	OXGR1_uc010afr.1_Missense_Mutation_p.Y35H	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	35	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)|skin(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			ACAGGGAGGTAGTGCATCTTG	0.418												
NALCN	259232	broad.mit.edu	37	13	101910909	101910909	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:101910909G>A	uc001vox.1	-	11	1340	c.1151C>T	c.(1150-1152)TCC>TTC	p.S384F	NALCN_uc001voy.2_Missense_Mutation_p.S99F|NALCN_uc001voz.2_Missense_Mutation_p.S384F|NALCN_uc001vpa.2_Missense_Mutation_p.S384F	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	384	Helical; Name=S1 of repeat II; (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTGGAAAACGGATGACCGCAT	0.468												
C13orf27	93081	broad.mit.edu	37	13	103418898	103418898	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:103418898T>C	uc001vpo.2	-	6	715	c.537A>G	c.(535-537)CAA>CAG	p.Q179Q	C13orf27_uc001vpn.2_Silent_p.Q138Q|C13orf27_uc001vpp.2_Silent_p.Q138Q	NM_138779	NP_620134	Q5JUR7	CM027_HUMAN	hypothetical protein LOC93081	179											0	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TATGGGGAGCTTGCATTTTCT	0.373												
ARHGEF7	8874	broad.mit.edu	37	13	111944543	111944543	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:111944543G>A	uc001vrs.2	+	20	2526	c.2276G>A	c.(2275-2277)CGC>CAC	p.R759H	ARHGEF7_uc001vrr.2_Missense_Mutation_p.R738H|ARHGEF7_uc001vrt.2_Missense_Mutation_p.R709H|ARHGEF7_uc001vrv.3_Intron|ARHGEF7_uc001vrw.3_Intron|ARHGEF7_uc001vrx.3_Intron|ARHGEF7_uc010tjo.1_Intron|ARHGEF7_uc010tjp.1_Missense_Mutation_p.R503H|ARHGEF7_uc001vry.1_Missense_Mutation_p.R175H	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform c	759					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)			CTGGGGCGTCGCAGTAGCCTT	0.532												
F7	2155	broad.mit.edu	37	13	113771857	113771857	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:113771857C>T	uc001vsv.2	+	8	803	c.752C>T	c.(751-753)GCG>GTG	p.A251V	F7_uc001vsw.2_Missense_Mutation_p.A229V|F7_uc010tjt.1_Missense_Mutation_p.A182V	NM_000131	NP_000122	P08709	FA7_HUMAN	coagulation factor VII isoform a precursor	251	Peptidase S1.		A -> P (in FA7D).|A -> T (in FA7D).		anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity				0	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GTGGTCTCCGCGGCCCACTGT	0.617												
PCID2	55795	broad.mit.edu	37	13	113854825	113854825	+	Silent	SNP	G	G	A	rs3751414		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:113854825G>A	uc010tju.1	-	2	123	c.42C>T	c.(40-42)TAC>TAT	p.Y14Y	PCID2_uc010tjv.1_Silent_p.Y14Y|PCID2_uc010tjw.1_Silent_p.Y14Y|PCID2_uc001vte.2_Translation_Start_Site|PCID2_uc001vtd.2_Translation_Start_Site|PCID2_uc001vtf.2_Translation_Start_Site|PCID2_uc001vtg.1_RNA	NM_001127203	NP_001120675	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	14					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding				0	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CGATGGCTTCGTACACCTGAA	0.408												
GAS6	2621	broad.mit.edu	37	13	114535359	114535359	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:114535359G>A	uc001vud.2	-	10	1209	c.1056C>T	c.(1054-1056)GCC>GCT	p.A352A	GAS6_uc001vug.2_Silent_p.A53A|GAS6_uc001vuf.2_Silent_p.A79A	NM_000820	NP_000811	Q14393	GAS6_HUMAN	growth arrest-specific 6 isoform 1 precursor	395	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)	4	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CCAGCCGGCCGGCTCTCAGGG	0.647												
TMEM55B	90809	broad.mit.edu	37	14	20928912	20928912	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:20928912C>T	uc001vxl.2	-	2	388	c.235G>A	c.(235-237)GCC>ACC	p.A79T	TMEM55B_uc001vxk.2_Missense_Mutation_p.A86T	NM_144568	NP_653169	Q86T03	TM55B_HUMAN	transmembrane protein 55B isoform 2	79	Pro-rich.					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity				0	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		ATCATAGGGGCACTCCCACTG	0.572												
SLC7A7	9056	broad.mit.edu	37	14	23243309	23243309	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:23243309G>A	uc001wgr.3	-	9	1400	c.1262C>T	c.(1261-1263)CCG>CTG	p.P421L	SLC7A7_uc001wgs.3_Missense_Mutation_p.P421L|SLC7A7_uc001wgt.3_Missense_Mutation_p.P421L|SLC7A7_uc001wgu.3_Missense_Mutation_p.P421L|SLC7A7_uc001wgv.3_Missense_Mutation_p.P421L	NM_003982	NP_003973	Q9UM01	YLAT1_HUMAN	solute carrier family 7 member 7	421	Helical; (Potential).				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			ovary(1)|breast(1)	2	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		GAAGACAATCGGGAAGAAAAC	0.493												
EFS	10278	broad.mit.edu	37	14	23829153	23829153	+	Silent	SNP	C	C	T	rs115947674	by1000genomes	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:23829153C>T	uc001wjo.2	-	4	1142	c.534G>A	c.(532-534)CCG>CCA	p.P178P	EFS_uc001wjp.2_Silent_p.P85P|EFS_uc010tnm.1_Silent_p.P85P	NM_005864	NP_005855	O43281	EFS_HUMAN	embryonal Fyn-associated substrate isoform 1	178	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			large_intestine(1)	1	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CAGGGGGCTGCGGGGCAACCC	0.662												
MYH7	4625	broad.mit.edu	37	14	23886745	23886745	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:23886745T>C	uc001wjx.2	-	31	4426	c.4320A>G	c.(4318-4320)GCA>GCG	p.A1440A		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1440	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGTCCAGGGCTGCAGCAGCAG	0.602												
AP1G2	8906	broad.mit.edu	37	14	24032638	24032638	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:24032638G>A	uc001wkl.2	-	14	1698	c.1361C>T	c.(1360-1362)GCC>GTC	p.A454V	AP1G2_uc001wkj.2_Missense_Mutation_p.A73V|AP1G2_uc001wkk.3_Missense_Mutation_p.A382V|AP1G2_uc001wkn.2_Missense_Mutation_p.A73V|uc001wko.1_Intron|AP1G2_uc001wkp.1_RNA|AP1G2_uc010tnp.1_Missense_Mutation_p.A454V	NM_003917	NP_003908	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2	454					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			ovary(1)	1	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CACAGAGTAGGCATGTAGCTC	0.627											OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CPNE6	9362	broad.mit.edu	37	14	24542713	24542713	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:24542713G>T	uc001wll.2	+	3	273	c.174G>T	c.(172-174)GAG>GAT	p.E58D	CPNE6_uc010tnv.1_Missense_Mutation_p.E113D|CPNE6_uc001wlm.2_5'UTR|CPNE6_uc001wln.2_5'Flank	NM_006032	NP_006023	O95741	CPNE6_HUMAN	copine 6	58	C2 1.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0184)		CACAGGTAGAGCGCACAGAGG	0.577												
CPNE6	9362	broad.mit.edu	37	14	24542860	24542860	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:24542860C>T	uc001wll.2	+	3	420	c.321C>T	c.(319-321)CTC>CTT	p.L107L	CPNE6_uc010tnv.1_Silent_p.L162L|CPNE6_uc001wlm.2_5'UTR|CPNE6_uc001wln.2_5'Flank	NM_006032	NP_006023	O95741	CPNE6_HUMAN	copine 6	107	C2 1.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0184)		ATACCTTCCTCGGCTCTACGG	0.587												
RNF31	55072	broad.mit.edu	37	14	24621133	24621133	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:24621133C>T	uc001wmn.1	+	11	2311	c.2062C>T	c.(2062-2064)CGG>TGG	p.R688W	RNF31_uc001wml.1_Missense_Mutation_p.R537W|RNF31_uc001wmm.1_RNA|RNF31_uc010alg.1_Missense_Mutation_p.R447W|RNF31_uc001wmo.1_Missense_Mutation_p.R155W|RNF31_uc001wmp.2_RNA	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	688					CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)		CAGCCAGGACCGGGCCTTCCT	0.647												
TGM1	7051	broad.mit.edu	37	14	24731001	24731001	+	Silent	SNP	G	G	A	rs142338588		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:24731001G>A	uc001wod.2	-	3	532	c.408C>T	c.(406-408)TAC>TAT	p.Y136Y	TGM1_uc010tog.1_Intron	NM_000359	NP_000350	P22735	TGM1_HUMAN	transglutaminase 1	136					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TCAGCTCGTCGTACTCATACT	0.577												
NFATC4	4776	broad.mit.edu	37	14	24838782	24838782	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:24838782G>A	uc001wpc.2	+	2	499	c.178G>A	c.(178-180)GGT>AGT	p.G60S	NFATC4_uc010tok.1_Missense_Mutation_p.G123S|NFATC4_uc010tol.1_Missense_Mutation_p.G123S|NFATC4_uc010alr.2_Missense_Mutation_p.G123S|NFATC4_uc010als.2_Missense_Mutation_p.G73S|NFATC4_uc010tom.1_Missense_Mutation_p.G73S|NFATC4_uc010ton.1_Missense_Mutation_p.G73S|NFATC4_uc010too.1_Missense_Mutation_p.G73S|NFATC4_uc010alt.2_Missense_Mutation_p.G92S|NFATC4_uc010top.1_Missense_Mutation_p.G92S|NFATC4_uc010toq.1_Missense_Mutation_p.G92S|NFATC4_uc010alu.2_Missense_Mutation_p.G60S|NFATC4_uc010tor.1_Missense_Mutation_p.G60S|NFATC4_uc010tos.1_5'UTR|NFATC4_uc010tot.1_Missense_Mutation_p.G48S|NFATC4_uc010tou.1_5'UTR|NFATC4_uc010tov.1_Missense_Mutation_p.G48S|NFATC4_uc010tow.1_5'UTR|NFATC4_uc010alv.2_Missense_Mutation_p.G48S|NFATC4_uc010tox.1_5'UTR	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	60	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.018)		TGCACCTATCGGTATTCCCCG	0.667												
STRN3	29966	broad.mit.edu	37	14	31364745	31364745	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:31364745T>C	uc001wqu.2	-	18	2482	c.2266A>G	c.(2266-2268)ACA>GCA	p.T756A	STRN3_uc001wqv.2_Missense_Mutation_p.T672A|STRN3_uc010tpj.1_RNA	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	nuclear autoantigen isoform 1	756	WD 5.				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TGCACACATGTCTTGCTGTCT	0.353												
HECTD1	25831	broad.mit.edu	37	14	31588960	31588960	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:31588960C>T	uc001wrc.1	-	29	5840	c.5351G>A	c.(5350-5352)CGT>CAT	p.R1784H	HECTD1_uc001wra.1_5'UTR|HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Missense_Mutation_p.R1252H	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1784					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GACATTAGTACGACCAGGTCT	0.393												
SSTR1	6751	broad.mit.edu	37	14	38679687	38679687	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:38679687G>A	uc001wul.1	+	3	1710	c.1093G>A	c.(1093-1095)GTG>ATG	p.V365M	SSTR1_uc010amu.1_Intron	NM_001049	NP_001040	P30872	SSR1_HUMAN	somatostatin receptor 1	365	Cytoplasmic (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			central_nervous_system(3)|ovary(1)|lung(1)	5	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	TGCCTACAGTGTGGAAGACTT	0.632												
SIP1	8487	broad.mit.edu	37	14	39601231	39601231	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:39601231C>T	uc001wuq.2	+	8	725	c.703C>T	c.(703-705)CGG>TGG	p.R235W	SIP1_uc001wur.2_Missense_Mutation_p.R235W|SIP1_uc001wus.2_Missense_Mutation_p.R220W|SIP1_uc010amx.2_RNA	NM_003616	NP_003607	O14893	GEMI2_HUMAN	SMN-interacting protein 1 isoform alpha	235					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding				0	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0121)		TTCACTGATTCGGCAGCTTGC	0.358												
FKBP3	2287	broad.mit.edu	37	14	45603570	45603570	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:45603570C>A	uc010tqf.1	-	1	163	c.90G>T	c.(88-90)CAG>CAT	p.Q30H	FANCM_uc001wwc.2_5'Flank|FANCM_uc001wwd.3_5'Flank|FANCM_uc010anf.2_5'Flank	NM_002013	NP_002004	Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	30					protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity				0						AACCGTGTTCCTGCAGAAACT	0.637												
NIN	51199	broad.mit.edu	37	14	51208344	51208344	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:51208344C>A	uc001wym.2	-	25	5595	c.5404G>T	c.(5404-5406)GAA>TAA	p.E1802*	NIN_uc001wyi.2_Nonsense_Mutation_p.E1802*|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Nonsense_Mutation_p.E1089*|NIN_uc010tqp.1_Nonsense_Mutation_p.E1808*|NIN_uc001wyo.2_Nonsense_Mutation_p.E1802*|NIN_uc001wyn.2_5'Flank	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1802	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					GACATCACTTCTTGTTTTAAA	0.328			T	PDGFRB	MPD							
PYGL	5836	broad.mit.edu	37	14	51375597	51375597	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:51375597A>G	uc001wyu.2	-	18	2381	c.2254T>C	c.(2254-2256)TCT>CCT	p.S752P	PYGL_uc010tqq.1_Missense_Mutation_p.S718P|PYGL_uc001wyv.2_Missense_Mutation_p.S426P|PYGL_uc001wyt.2_5'Flank	NM_002863	NP_002854	P06737	PYGL_HUMAN	liver glycogen phosphorylase isoform 1	752					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	p.S752F(1)		skin(1)	1	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TGCTTGGGAGAAAAAAAGCCA	0.443												
NID2	22795	broad.mit.edu	37	14	52534592	52534592	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:52534592G>A	uc001wzo.2	-	2	752	c.518C>T	c.(517-519)GCG>GTG	p.A173V	NID2_uc010tqs.1_Missense_Mutation_p.A173V|NID2_uc010tqt.1_Missense_Mutation_p.A173V|NID2_uc001wzp.2_Missense_Mutation_p.A173V	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	173	NIDO.					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)					CGAGGGCAGCGCCCCGCGCTT	0.637												
NID2	22795	broad.mit.edu	37	14	52535601	52535601	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:52535601G>A	uc001wzo.2	-	1	346	c.112C>T	c.(112-114)CCA>TCA	p.P38S	NID2_uc010tqs.1_Missense_Mutation_p.P38S|NID2_uc010tqt.1_Missense_Mutation_p.P38S|NID2_uc001wzp.2_Missense_Mutation_p.P38S	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	38						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)					TCCCCGTGTGGGAAGAGCTCG	0.672												
PTGDR	5729	broad.mit.edu	37	14	52735263	52735263	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:52735263C>T	uc001wzq.2	+	1	833	c.731C>T	c.(730-732)GCC>GTC	p.A244V		NM_000953	NP_000944	Q13258	PD2R_HUMAN	prostaglandin D2 receptor	244	Cytoplasmic (Potential).					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	AGGGACTGTGCCGAGCCGCGC	0.687												
DDHD1	80821	broad.mit.edu	37	14	53619158	53619158	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:53619158C>T	uc001xai.2	-	1	889	c.659G>A	c.(658-660)GGC>GAC	p.G220D	DDHD1_uc001xaj.2_Missense_Mutation_p.G220D|DDHD1_uc001xah.2_Missense_Mutation_p.G220D	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1 isoform c	220					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			ovary(2)	2	Breast(41;0.037)					GGAGGCTGGGCCCGTGGGGGA	0.697												
KIAA0831	22863	broad.mit.edu	37	14	55848756	55848756	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:55848756C>T	uc001xbx.1	-	6	837	c.801G>A	c.(799-801)TGG>TGA	p.W267*	FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbw.1_Nonsense_Mutation_p.W154*	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN	Barkor	267					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding				0						GGAGGCTAATCCAAGGCCCTG	0.527												
C14orf37	145407	broad.mit.edu	37	14	58563560	58563560	+	Silent	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:58563560G>T	uc001xdc.2	-	5	2082	c.1971C>A	c.(1969-1971)ACC>ACA	p.T657T	C14orf37_uc010tro.1_Silent_p.T695T|C14orf37_uc001xdd.2_Silent_p.T657T	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	hypothetical protein LOC145407 precursor	657	Extracellular (Potential).					integral to membrane	binding				0						TACCAGGGAGGGTAAAACCTG	0.443												
DACT1	51339	broad.mit.edu	37	14	59108339	59108339	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:59108339G>T	uc001xdw.2	+	3	672	c.508G>T	c.(508-510)GGA>TGA	p.G170*	DACT1_uc010trv.1_Translation_Start_Site|DACT1_uc001xdx.2_Nonsense_Mutation_p.G170*|DACT1_uc010trw.1_Translation_Start_Site	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	170					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						TGGGGCTTCAGGATCCCTTTC	0.433												
C14orf50	145376	broad.mit.edu	37	14	65053973	65053973	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:65053973A>G	uc001xhl.1	+	10	869	c.773A>G	c.(772-774)GAG>GGG	p.E258G	C14orf50_uc001xhm.1_5'UTR	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	hypothetical protein LOC145376	258										skin(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488)		CACTTGACAGAGATTGAAGAA	0.423												
FUT8	2530	broad.mit.edu	37	14	66082939	66082939	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:66082939G>A	uc001xin.2	+	5	1527	c.330G>A	c.(328-330)AAG>AAA	p.K110K	FUT8_uc001xio.2_Silent_p.K110K|FUT8_uc010tsp.1_5'UTR|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Silent_p.K110K|FUT8_uc001xiq.2_5'UTR	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 isoform a	110	Lumenal (Potential).				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			ovary(1)	1				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GTCTGGGGAAGGATCATGAAA	0.373												
GPHN	10243	broad.mit.edu	37	14	67431987	67431987	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:67431987C>T	uc001xiy.2	+	8	1930	c.809C>T	c.(808-810)TCG>TTG	p.S270L	GPHN_uc001xiw.2_Missense_Mutation_p.S285L|GPHN_uc001xix.2_Missense_Mutation_p.S303L|GPHN_uc010tss.1_Missense_Mutation_p.S283L|GPHN_uc010tst.1_Missense_Mutation_p.S239L|GPHN_uc010tsu.1_Missense_Mutation_p.S193L	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	gephyrin isoform 2	270	Interaction with GABARAP (By similarity).				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			ovary(2)	2		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		CCTTCAGAATCGCCTCGTGCT	0.498			T	MLL	AL							
GPHN	10243	broad.mit.edu	37	14	67576927	67576927	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:67576927A>G	uc001xiy.2	+	13	2386	c.1265A>G	c.(1264-1266)GAT>GGT	p.D422G	GPHN_uc001xix.2_Missense_Mutation_p.D455G|GPHN_uc010tss.1_Missense_Mutation_p.D468G|GPHN_uc010tst.1_Missense_Mutation_p.D391G|GPHN_uc010tsu.1_Missense_Mutation_p.D345G	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	gephyrin isoform 2	422	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			ovary(2)	2		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TGCGGTGCTGATGCAGTAGTA	0.443			T	MLL	AL							
MAP3K9	4293	broad.mit.edu	37	14	71209080	71209080	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:71209080T>C	uc001xmm.2	-	6	1555	c.1555A>G	c.(1555-1557)AGC>GGC	p.S519G	MAP3K9_uc010ttk.1_Missense_Mutation_p.S256G|MAP3K9_uc001xmk.2_Missense_Mutation_p.S213G|MAP3K9_uc001xml.2_Missense_Mutation_p.S519G	NM_033141	NP_149132	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase	519				KLKDGNRISLPSDFQHKFTVQASPT -> AQPVLPFPHGHS RCPGGTGSSWGGQ (in Ref. 4).	activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GAAGGGAGGCTGATGCGGTTG	0.607												
LTBP2	4053	broad.mit.edu	37	14	75022341	75022341	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:75022341G>T	uc001xqa.2	-	4	1273	c.886C>A	c.(886-888)CGC>AGC	p.R296S		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	296					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CGGACAGTGCGGGACAACCCC	0.657												
VIPAR	63894	broad.mit.edu	37	14	77895366	77895366	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:77895366G>A	uc001xtt.1	-	19	1677	c.1339C>T	c.(1339-1341)CAT>TAT	p.H447Y	VIPAR_uc001xtu.1_Missense_Mutation_p.H447Y|VIPAR_uc010tvj.1_Missense_Mutation_p.H398Y|VIPAR_uc001xtv.1_Missense_Mutation_p.H447Y	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	hypothetical protein LOC63894	447					endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding			central_nervous_system(1)	1						ACGACATCATGGCACTTGAAC	0.453												
NRXN3	9369	broad.mit.edu	37	14	79933651	79933651	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:79933651G>A	uc001xun.2	+	13	2722	c.2231G>A	c.(2230-2232)CGC>CAC	p.R744H	NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.R112H|NRXN3_uc010asw.2_Missense_Mutation_p.R112H|NRXN3_uc001xur.3_Missense_Mutation_p.R112H	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	1117	Extracellular (Potential).|Laminin G-like 6.				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)		CGGTCTGACCGCCTTGCCGTG	0.567												
SMEK1	55671	broad.mit.edu	37	14	91942843	91942843	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:91942843G>A	uc001xzn.2	-	6	1841	c.1019C>T	c.(1018-1020)GCG>GTG	p.A340V	SMEK1_uc001xzm.2_Missense_Mutation_p.A340V|SMEK1_uc001xzo.2_Missense_Mutation_p.A340V|SMEK1_uc010atz.2_Missense_Mutation_p.A101V|SMEK1_uc001xzp.1_RNA|SMEK1_uc001xzq.1_Missense_Mutation_p.A216V	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1	340						microtubule organizing center|nucleus	protein binding				0		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TTGGGAAAACGCACAAAATTC	0.259												
GOLGA5	9950	broad.mit.edu	37	14	93299632	93299632	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:93299632G>A	uc001yaz.1	+	10	2067	c.1885G>A	c.(1885-1887)GCC>ACC	p.A629T	GOLGA5_uc001yba.1_Missense_Mutation_p.A26T	NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Golgi autoantigen, golgin subfamily a, 5	629	Cytoplasmic (Potential).|Potential.				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GATGAACTCCGCCTCTGGAAG	0.428			T	RET	papillary thyroid							
OTUB2	78990	broad.mit.edu	37	14	94510971	94510971	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:94510971G>A	uc001yci.2	+	5	503	c.343G>A	c.(343-345)GTG>ATG	p.V115M		NM_023112	NP_075601	Q96DC9	OTUB2_HUMAN	OTU domain, ubiquitin aldehyde binding 2	115	OTU.				cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination		omega peptidase activity|protein binding|ubiquitin-specific protease activity				0		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		GGATGGCTCAGTGTCCAGCCT	0.612												
VRK1	7443	broad.mit.edu	37	14	97326912	97326912	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:97326912T>C	uc001yft.2	+	11	1014	c.908T>C	c.(907-909)ATG>ACG	p.M303T		NM_003384	NP_003375	Q99986	VRK1_HUMAN	vaccinia related kinase 1	303	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|stomach(1)	2		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		GCCAAATACATGGAAACAGTG	0.279												
EVL	51466	broad.mit.edu	37	14	100551127	100551127	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:100551127A>G	uc001ygt.2	+	2	348	c.109A>G	c.(109-111)AAC>GAC	p.N37D	EVL_uc001ygv.2_Missense_Mutation_p.N43D|EVL_uc001ygu.2_Missense_Mutation_p.N39D|EVL_uc010avu.2_5'UTR	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Enah/Vasp-like	37	WH1.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding			large_intestine(2)|ovary(1)	3		Melanoma(154;0.152)				CAGCCGGATCAACATCTACCA	0.517												
DYNC1H1	1778	broad.mit.edu	37	14	102471206	102471206	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:102471206G>A	uc001yks.2	+	25	5321	c.5157G>A	c.(5155-5157)GAG>GAA	p.E1719E		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	1719	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						TGCTTGCTGAGTCTGTTACGG	0.393												
DYNC1H1	1778	broad.mit.edu	37	14	102494049	102494049	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:102494049G>A	uc001yks.2	+	47	9306	c.9142G>A	c.(9142-9144)GAG>AAG	p.E3048K		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3048	AAA 4 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						GGACTCGCACGAGGAGCTCTA	0.577												
TECPR2	9895	broad.mit.edu	37	14	102843129	102843129	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:102843129C>T	uc001ylw.1	+	2	219	c.71C>T	c.(70-72)CCG>CTG	p.P24L	TECPR2_uc010txw.1_Missense_Mutation_p.P24L|TECPR2_uc010awl.2_Missense_Mutation_p.P24L|TECPR2_uc010txx.1_Nonsense_Mutation_p.R4*	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	24							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						AATGCCATTCCGACAAAGATC	0.537												
EIF5	1983	broad.mit.edu	37	14	103806054	103806054	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:103806054C>T	uc001ymq.2	+	10	1507	c.985C>T	c.(985-987)CTT>TTT	p.L329F	EIF5_uc001ymr.2_Missense_Mutation_p.L329F|EIF5_uc001yms.2_Missense_Mutation_p.L329F|EIF5_uc001ymt.2_Missense_Mutation_p.L329F|EIF5_uc001ymu.2_Missense_Mutation_p.L329F	NM_001969	NP_001960	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	329	W2.				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)			TCAAGCTCAGCTTATCTCCAA	0.433												
AHNAK2	113146	broad.mit.edu	37	14	105409290	105409290	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:105409290G>A	uc010axc.1	-	7	12618	c.12498C>T	c.(12496-12498)GAC>GAT	p.D4166D	AHNAK2_uc001ypx.2_Silent_p.D4066D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4166						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)			GGAGGCTCACGTCGGCTTTCG	0.607												
CYFIP1	23191	broad.mit.edu	37	15	22955256	22955256	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:22955256C>T	uc001yus.2	+	15	1754	c.1650C>T	c.(1648-1650)CGC>CGT	p.R550R	CYFIP1_uc001yut.2_Silent_p.R550R|CYFIP1_uc010aya.1_Silent_p.R578R|CYFIP1_uc001yuu.2_5'Flank	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	550					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TACCACGCCGCGCCGTGGGAC	0.667												
MKRN3	7681	broad.mit.edu	37	15	23811639	23811639	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:23811639T>C	uc001ywh.3	+	1	1186	c.710T>C	c.(709-711)GTG>GCG	p.V237A	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.V237A	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	237						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CAGATGGCTGTGGGCAGTGGG	0.567												
MAGEL2	54551	broad.mit.edu	37	15	23889460	23889460	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:23889460G>A	uc001ywj.3	-	1	1716	c.1621C>T	c.(1621-1623)CGG>TGG	p.R541W		NM_019066	NP_061939			MAGE-like protein 2												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;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TTTGTCTCCCGGACATCCAAC	0.463												
SNRPN	6638	broad.mit.edu	37	15	25222053	25222053	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:25222053A>G	uc001ywp.1	+	10	1187	c.297A>G	c.(295-297)GGA>GGG	p.G99G	SNRPN_uc001ywq.1_Silent_p.G99G|SNRPN_uc001ywr.1_Silent_p.G99G|SNRPN_uc001yws.1_Silent_p.G99G|SNRPN_uc001ywt.1_Silent_p.G99G|SNRPN_uc001ywv.1_Silent_p.G102G|SNRPN_uc001yww.1_Silent_p.G99G|SNRPN_uc001ywx.1_Silent_p.G99G|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	99					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)		CACTTGCTGGAGCTGCTGGAG	0.512									Prader-Willi_syndrome			
HERC2	8924	broad.mit.edu	37	15	28357109	28357109	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:28357109G>A	uc001zbj.2	-	93	14411	c.14305C>T	c.(14305-14307)CCC>TCC	p.P4769S	HERC2_uc001zbi.2_Missense_Mutation_p.P458S	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4769	HECT.				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)		GAATACCTGGGCAGCTTCAGC	0.498												
HERC2	8924	broad.mit.edu	37	15	28366563	28366563	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:28366563G>A	uc001zbj.2	-	86	13307	c.13201C>T	c.(13201-13203)CGG>TGG	p.R4401W		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4401					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)		ACTACTTTCCGGAAAGCCGCC	0.438												
HERC2	8924	broad.mit.edu	37	15	28538035	28538035	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:28538035T>C	uc001zbj.2	-	4	427	c.321A>G	c.(319-321)CCA>CCG	p.P107P	HERC2_uc001zbl.1_5'UTR	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	107					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)		CAAGATTACCTGGTTGCTTGC	0.378												
FMN1	342184	broad.mit.edu	37	15	33192305	33192305	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:33192305C>T	uc001zhf.3	-	10	2860	c.2860G>A	c.(2860-2862)GTG>ATG	p.V954M		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	1177	FH2.				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)		ATATCCTTCACGCTCTTCACG	0.433												
PGBD4	161779	broad.mit.edu	37	15	34396276	34396276	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:34396276C>T	uc001zho.2	+	1	2003	c.1544C>T	c.(1543-1545)ACA>ATA	p.T515I	C15orf24_uc001zhm.2_5'Flank|C15orf24_uc001zhn.2_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	515											0		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		GATGATGTCACACCTCTTCGT	0.483												
SPRED1	161742	broad.mit.edu	37	15	38641674	38641674	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:38641674G>A	uc001zka.3	+	6	969	c.634G>A	c.(634-636)GTA>ATA	p.V212I		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	sprouty-related protein 1 with EVH-1 domain	212					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)		TATGGAATACGTACAGCGGCA	0.328									Legius_syndrome			
BAHD1	22893	broad.mit.edu	37	15	40758302	40758302	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:40758302C>T	uc001zlu.2	+	7	2387	c.2316C>T	c.(2314-2316)CAC>CAT	p.H772H	BAHD1_uc001zlt.2_Silent_p.H771H|BAHD1_uc010bbp.1_Silent_p.H768H|BAHD1_uc001zlv.2_Silent_p.H769H	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	772	BAH.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		ACTTCCGCCACGGGCGCATCC	0.632												
RAD51	5888	broad.mit.edu	37	15	41021004	41021004	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:41021004C>T	uc001zmi.3	+	7	925	c.626C>T	c.(625-627)GCC>GTC	p.A209V	RAD51_uc010bbw.2_Missense_Mutation_p.A209V|RAD51_uc010bbx.2_Missense_Mutation_p.A210V|RAD51_uc001zmk.3_RNA|RAD51_uc001zml.3_Missense_Mutation_p.A210V	NM_002875	NP_002866	Q06609	RAD51_HUMAN	RAD51 homolog protein isoform 1	209	Interaction with PALB2.				DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity				0		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		CAAGCATCAGCCATGATGGTA	0.433								Homologous_recombination				
RPAP1	26015	broad.mit.edu	37	15	41820101	41820101	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:41820101G>A	uc001zod.2	-	11	1509	c.1385C>T	c.(1384-1386)GCC>GTC	p.A462V		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	462						nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGCACGGATGGCGGTTGCAAT	0.577												
ZFP106	64397	broad.mit.edu	37	15	42743354	42743354	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:42743354C>T	uc001zpw.2	-	2	1382	c.1047G>A	c.(1045-1047)TGG>TGA	p.W349*	ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Nonsense_Mutation_p.W132*|ZFP106_uc001zpy.1_Nonsense_Mutation_p.W372*	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	349						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)		GGTAAGGCGTCCAGCGACGAG	0.453												
TGM5	9333	broad.mit.edu	37	15	43533132	43533132	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:43533132C>T	uc001zrd.1	-	7	927	c.919G>A	c.(919-921)GAT>AAT	p.D307N	TGM5_uc001zrc.1_5'Flank|TGM5_uc001zre.1_Missense_Mutation_p.D225N	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	307					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CCATCTGTATCGTGGCCAGAG	0.453												
TUBGCP4	27229	broad.mit.edu	37	15	43677988	43677988	+	Splice_Site	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:43677988G>A	uc001zro.2	+	8	964	c.724_splice	c.e8-1	p.R242_splice	TUBGCP4_uc001zrn.2_Splice_Site_p.R242_splice|TUBGCP4_uc010bdh.2_Splice_Site	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4						G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			ovary(3)	3		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TCCTTGACTAGCGCCTGATTG	0.428												
TP53BP1	7158	broad.mit.edu	37	15	43707815	43707815	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:43707815C>T	uc001zrs.2	-	23	5199	c.5051G>A	c.(5050-5052)CGC>CAC	p.R1684H	TP53BP1_uc010udp.1_Missense_Mutation_p.R1684H|TP53BP1_uc001zrq.3_Missense_Mutation_p.R1689H|TP53BP1_uc001zrr.3_Missense_Mutation_p.R1689H|TP53BP1_uc010udq.1_Missense_Mutation_p.R1689H|TP53BP1_uc001zrp.2_Missense_Mutation_p.R101H	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	1684					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGCAGACTTGCGACCTCGCTT	0.498								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes				
SPG11	80208	broad.mit.edu	37	15	44951445	44951445	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:44951445A>G	uc001ztx.2	-	3	530	c.499T>C	c.(499-501)TTC>CTC	p.F167L	SPG11_uc010ueh.1_Missense_Mutation_p.F167L|SPG11_uc010uei.1_Missense_Mutation_p.F167L|SPG11_uc001zua.1_Missense_Mutation_p.F167L	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	167	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)		TTGTTGATGAACAGTAATGAT	0.348												
DUOX2	50506	broad.mit.edu	37	15	45387642	45387642	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:45387642C>T	uc010bea.2	-	31	4435	c.4232G>A	c.(4231-4233)TGT>TAT	p.C1411Y	DUOX2_uc001zun.2_Missense_Mutation_p.C1411Y	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	1411	Cytoplasmic (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CACCTTCTTACACAGCATTTG	0.552												
SLC28A2	9153	broad.mit.edu	37	15	45556197	45556197	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:45556197G>A	uc001zva.2	+	6	630	c.565G>A	c.(565-567)GCC>ACC	p.A189T		NM_004212	NP_004203	O43868	S28A2_HUMAN	solute carrier family 28 (sodium-coupled	189	Helical; (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			ovary(4)	4		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		TATCCTCTTTGCCTGCTCCAA	0.493												
HDC	3067	broad.mit.edu	37	15	50534934	50534934	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:50534934C>T	uc001zxz.2	-	12	1618	c.1512G>A	c.(1510-1512)ACG>ACA	p.T504T	HDC_uc001zxy.2_Silent_p.T247T|HDC_uc010uff.1_Silent_p.T471T	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	504					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	ACTGAAGGGACGTTCCACAGG	0.587												
TRPM7	54822	broad.mit.edu	37	15	50878623	50878623	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:50878623A>G	uc001zyt.3	-	28	4716	c.4452T>C	c.(4450-4452)TGT>TGC	p.C1484C	TRPM7_uc010bew.1_Silent_p.C1484C	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	1484	Cytoplasmic (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AAGTTCTGTGACAGTCAGTAA	0.303												
VPS13C	54832	broad.mit.edu	37	15	62147068	62147068	+	Splice_Site	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:62147068A>G	uc002agz.2	-	84	11234	c.11160_splice	c.e84+1	p.E3720_splice	VPS13C_uc002aha.2_Splice_Site_p.E3677_splice	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A						protein localization					ovary(2)	2						TAAATTGTTTACCTCTGCTGT	0.373												
TLN2	83660	broad.mit.edu	37	15	63063176	63063176	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:63063176C>T	uc002alb.3	+	39	5210	c.5210C>T	c.(5209-5211)GCA>GTA	p.A1737V	TLN2_uc002alc.3_Missense_Mutation_p.A130V|TLN2_uc002ald.2_Missense_Mutation_p.A130V	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1737					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						ACACAACTGGCAAGCTATTTT	0.493												
USP3	9960	broad.mit.edu	37	15	63824853	63824853	+	Silent	SNP	G	G	A	rs148908419		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:63824853G>A	uc002amf.2	+	2	228	c.99G>A	c.(97-99)CGG>CGA	p.R33R	USP3_uc010uii.1_RNA|USP3_uc002amg.2_5'UTR|USP3_uc002amh.2_Silent_p.R11R|USP3_uc010uij.1_Silent_p.R33R|USP3_uc010uik.1_Intron|USP3_uc010bgs.2_Silent_p.R16R	NM_006537	NP_006528	Q9Y6I4	UBP3_HUMAN	ubiquitin thiolesterase 3	33	UBP-type.				DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(80;0.0187)		TAGTGTGCCGGTCCAACAAAA	0.358												
USP3	9960	broad.mit.edu	37	15	63881145	63881145	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:63881145T>C	uc002amf.2	+	14	1461	c.1332T>C	c.(1330-1332)CCT>CCC	p.P444P	USP3_uc002amg.2_Silent_p.P359P|USP3_uc002amh.2_Silent_p.P422P|USP3_uc010uij.1_Silent_p.P400P|USP3_uc010uik.1_Silent_p.P195P|USP3_uc010bgs.2_Silent_p.P427P|USP3_uc002ami.2_Silent_p.P275P|uc002amj.2_RNA|uc002amk.2_RNA|uc002aml.2_RNA	NM_006537	NP_006528	Q9Y6I4	UBP3_HUMAN	ubiquitin thiolesterase 3	444					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(80;0.0187)		TTCTGTAGCCTGAGAACAGTG	0.527												
HERC1	8925	broad.mit.edu	37	15	63904654	63904654	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:63904654C>A	uc002amp.2	-	77	14344	c.14196G>T	c.(14194-14196)GAG>GAT	p.E4732D	HERC1_uc002amo.2_5'Flank	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	4732	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						CCACAGAGATCTCGGGCATCC	0.562												
HERC1	8925	broad.mit.edu	37	15	64067377	64067377	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:64067377C>T	uc002amp.2	-	2	594	c.446G>A	c.(445-447)CGC>CAC	p.R149H	HERC1_uc010uil.1_Missense_Mutation_p.R149H|HERC1_uc010bgt.1_Missense_Mutation_p.R149H|HERC1_uc002amq.1_Missense_Mutation_p.R149H	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	149					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						TGACCGGGGGCGTTCACTAAC	0.453												
ITGA11	22801	broad.mit.edu	37	15	68661610	68661610	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:68661610G>A	uc002ari.2	-	3	264	c.177C>T	c.(175-177)GGC>GGT	p.G59G	ITGA11_uc010bib.2_Silent_p.G59G	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	59	FG-GAP 1.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	CCAGTGGGGCGCCCACGACCA	0.572												
ODF3L1	161753	broad.mit.edu	37	15	76019571	76019571	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:76019571C>A	uc002bax.1	+	4	737	c.515C>A	c.(514-516)CCT>CAT	p.P172H		NM_175881	NP_787077	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	172											0						CCCAACACCCCTGTCAGCCGA	0.617												
CIB2	10518	broad.mit.edu	37	15	78398176	78398176	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:78398176G>A	uc002bdb.1	-	5	768	c.447C>T	c.(445-447)TGC>TGT	p.C149C	CIB2_uc002bdc.1_Silent_p.C106C|CIB2_uc010ums.1_Silent_p.C149C	NM_006383	NP_006374	O75838	CIB2_HUMAN	DNA-dependent protein kinase catalytic	149	EF-hand 3.						calcium ion binding				0						TGACCTTGTCGCACACAAGCA	0.567												
AGPHD1	123688	broad.mit.edu	37	15	78807371	78807371	+	Silent	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:78807371C>A	uc010unc.1	+	3	512	c.399C>A	c.(397-399)CCC>CCA	p.P133P	AGPHD1_uc002bdt.2_Silent_p.P133P|AGPHD1_uc010ble.2_Silent_p.P133P	NM_001013619	NP_001013641	A2RU49	AGPD1_HUMAN	aminoglycoside phosphotransferase domain	133						cytoplasm	kinase activity				0						CAGGAAGACCCATCGCTGAGC	0.418												
ARNT2	9915	broad.mit.edu	37	15	80872883	80872883	+	Missense_Mutation	SNP	C	C	T	rs147344883		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:80872883C>T	uc002bfr.2	+	16	1911	c.1745C>T	c.(1744-1746)CCG>CTG	p.P582L	ARNT2_uc010unm.1_Missense_Mutation_p.P571L|ARNT2_uc002bfs.2_Missense_Mutation_p.P571L	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	582					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.P582Q(1)		central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)			CCGCCCTTTCCGGGACAGGTA	0.567												
IL16	3603	broad.mit.edu	37	15	81575086	81575086	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:81575086C>T	uc002bgh.3	+	9	1564	c.1188C>T	c.(1186-1188)GAC>GAT	p.D396D	IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Silent_p.D396D|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.D438D|IL16_uc002bgg.2_Silent_p.D396D|IL16_uc002bgi.1_Translation_Start_Site	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	396	PDZ 2.|Interaction with GRIN2A.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						CGCACCTGGACGGACGTCTCC	0.537												
FSD2	123722	broad.mit.edu	37	15	83451613	83451613	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:83451613A>G	uc002bjd.2	-	4	1067	c.900T>C	c.(898-900)GAT>GAC	p.D300D	FSD2_uc010uol.1_Silent_p.D300D|FSD2_uc010uom.1_Silent_p.D300D	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing	300	Potential.									central_nervous_system(1)	1						CTTTGCAAGTATCTAGGTTTT	0.373												
ZNF592	9640	broad.mit.edu	37	15	85327240	85327240	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:85327240C>G	uc002bld.2	+	4	1670	c.1334C>G	c.(1333-1335)GCC>GGC	p.A445G	ZNF592_uc010upb.1_RNA	NM_014630	NP_055445	Q92610	ZN592_HUMAN	zinc finger protein 592	445					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(2)	6			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCCCAGGGGGCCAGGAAAGGG	0.642												
ABHD2	11057	broad.mit.edu	37	15	89738497	89738497	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:89738497G>T	uc002bnj.2	+	16	2038	c.1121G>T	c.(1120-1122)GGG>GTG	p.G374V	ABHD2_uc002bnk.2_Missense_Mutation_p.G374V	NM_007011	NP_008942	P08910	ABHD2_HUMAN	alpha/beta hydrolase domain containing protein	374						integral to membrane	carboxylesterase activity			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					CCTCTGCATGGGGGCCACTTG	0.557												
C15orf42	90381	broad.mit.edu	37	15	90167247	90167247	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:90167247C>T	uc002boe.2	+	20	3706	c.3706C>T	c.(3706-3708)CCC>TCC	p.P1236S	C15orf42_uc010upv.1_RNA	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1236	Pro-rich.				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GACTGCCCAGCCCAGGAGAGA	0.567												
BLM	641	broad.mit.edu	37	15	91295078	91295078	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:91295078A>G	uc002bpr.2	+	4	958	c.861A>G	c.(859-861)CCA>CCG	p.P287P	BLM_uc010uqh.1_Silent_p.P287P|BLM_uc010uqi.1_5'UTR|BLM_uc010bnx.2_Silent_p.P287P	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	287					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AGAAAGTTCCATGTATTGAAT	0.323			Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome			
ADAMTS17	170691	broad.mit.edu	37	15	100821558	100821558	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:100821558C>T	uc002bvv.1	-	4	744	c.665G>A	c.(664-666)CGG>CAG	p.R222Q	ADAMTS17_uc002bvx.1_5'UTR	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	222					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)		AGCGTTCCTCCGCTCCCGCCA	0.617												
ASB7	140460	broad.mit.edu	37	15	101170100	101170100	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:101170100A>G	uc002bwk.2	+	5	1439	c.670A>G	c.(670-672)AGG>GGG	p.R224G	ASB7_uc002bwj.2_Missense_Mutation_p.R224G	NM_198243	NP_937886	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box-containing protein 7	224	ANK 7.				intracellular signal transduction					skin(1)	1	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			ATCTGCCCTTAGGGATGATGT	0.458												
LRRK1	79705	broad.mit.edu	37	15	101528988	101528988	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:101528988C>T	uc002bwr.2	+	5	902	c.583C>T	c.(583-585)CGC>TGC	p.R195C	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bwq.1_Missense_Mutation_p.R195C	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	195	ANK 4.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTCATCGTGCGCTTGCCCCT	0.607												
RHBDF1	64285	broad.mit.edu	37	16	113713	113713	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:113713G>A	uc002cfl.3	-	7	482	c.334C>T	c.(334-336)CGC>TGC	p.R112C	RHBDF1_uc010uty.1_Missense_Mutation_p.R135C|RHBDF1_uc010utz.1_Missense_Mutation_p.R112C|RHBDF1_uc010bqo.1_RNA	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	112	Cytoplasmic (Potential).				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			ovary(1)|pancreas(1)	2		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TTCCCGTAGCGCTGGCTGCAG	0.647												
CACNA1H	8912	broad.mit.edu	37	16	1250513	1250513	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:1250513C>T	uc002cks.2	+	7	1309	c.1061C>T	c.(1060-1062)CCC>CTC	p.P354L	CACNA1H_uc002ckt.2_Missense_Mutation_p.P354L	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	354	Extracellular (Potential).|I.				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GACTCCAACCCCCACAACGGT	0.647												
CACNA1H	8912	broad.mit.edu	37	16	1262117	1262117	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:1262117C>T	uc002cks.2	+	25	4986	c.4738C>T	c.(4738-4740)CGC>TGC	p.R1580C	CACNA1H_uc002ckt.2_Missense_Mutation_p.R1580C|CACNA1H_uc002cku.2_Missense_Mutation_p.R286C|CACNA1H_uc010brj.2_Missense_Mutation_p.R286C|CACNA1H_uc002ckv.2_Missense_Mutation_p.R286C	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	1580	Cytoplasmic (Potential).				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GCGGCTGCGGCGCCTAGAGAG	0.711												
ABCA3	21	broad.mit.edu	37	16	2333210	2333210	+	Missense_Mutation	SNP	C	C	T	rs149871856		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:2333210C>T	uc002cpy.1	-	26	4724	c.4012G>A	c.(4012-4014)GCC>ACC	p.A1338T	ABCA3_uc010bsk.1_Missense_Mutation_p.A1280T	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	1338					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				CTCCGGAGGGCGCAGAGGATG	0.657												
PRSS27	83886	broad.mit.edu	37	16	2764112	2764112	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:2764112C>T	uc002crf.2	-	4	853	c.462G>A	c.(460-462)ACG>ACA	p.T154T	PRSS27_uc002cre.2_Silent_p.T118T|PRSS27_uc002crg.2_Silent_p.T52T|PRSS27_uc010bst.1_Silent_p.T52T	NM_031948	NP_114154	Q9BQR3	PRS27_HUMAN	marapsin precursor	154	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1						AGTTCATGCCCGTCTCAAAGA	0.622												
SRRM2	23524	broad.mit.edu	37	16	2812472	2812472	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:2812472G>A	uc002crk.2	+	11	2492	c.1943G>A	c.(1942-1944)CGC>CAC	p.R648H	SRRM2_uc002crj.1_Missense_Mutation_p.R552H|SRRM2_uc002crl.1_Missense_Mutation_p.R648H|SRRM2_uc010bsu.1_Missense_Mutation_p.R552H	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	648	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GGCAGGTCACGCTCTAGAACC	0.607												
C16orf90	646174	broad.mit.edu	37	16	3544554	3544554	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:3544554G>A	uc002cvi.2	-	2	370	c.370C>T	c.(370-372)CGA>TGA	p.R124*		NM_001080524	NP_001073993	A8MZG2	CP090_HUMAN	hypothetical protein LOC646174	114											0						CTGGGCAATCGGGCTTCCAGA	0.672												
BTBD12	84464	broad.mit.edu	37	16	3632513	3632513	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:3632513G>A	uc002cvp.2	-	15	5962	c.5335C>T	c.(5335-5337)CGG>TGG	p.R1779W		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1779	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				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						TGCAGCTCCCGCAGCTCAAAG	0.647								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia			
CREBBP	1387	broad.mit.edu	37	16	3900561	3900561	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:3900561C>T	uc002cvv.2	-	2	739	c.535G>A	c.(535-537)GCT>ACT	p.A179T	CREBBP_uc002cvw.2_Missense_Mutation_p.A179T	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	179					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			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)		TTAAAGTTAGCATTCATGCAG	0.532			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
ADCY9	115	broad.mit.edu	37	16	4016953	4016953	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:4016953G>A	uc002cvx.2	-	11	3424	c.2885C>T	c.(2884-2886)CCG>CTG	p.P962L		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	962	Extracellular (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 plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						ACTATTGCACGGGTTCCTCTC	0.597												
VASN	114990	broad.mit.edu	37	16	4432050	4432050	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:4432050G>A	uc002cwj.1	+	2	1327	c.1172G>A	c.(1171-1173)AGC>AAC	p.S391N	CORO7_uc002cwe.2_Intron|CORO7_uc002cwf.2_Intron|CORO7_uc002cwg.3_Intron|CORO7_uc002cwh.3_Intron|CORO7_uc010uxh.1_Intron|CORO7_uc010uxi.1_Intron|CORO7_uc002cwi.1_Intron|CORO7_uc010uxj.1_Intron|CORO7_uc010btp.1_Intron	NM_138440	NP_612449	Q6EMK4	VASN_HUMAN	slit-like 2 precursor	391	Extracellular (Potential).					extracellular region|integral to membrane					0						GAGGCCCCCAGCCCGCCCTCC	0.697												
GRIN2A	2903	broad.mit.edu	37	16	9857426	9857426	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:9857426G>A	uc002czo.3	-	13	4523	c.3975C>T	c.(3973-3975)TAC>TAT	p.Y1325Y	GRIN2A_uc010uym.1_Silent_p.Y1325Y|GRIN2A_uc010uyn.1_Intron|GRIN2A_uc002czr.3_Intron	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1325	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACAGGCTGCCGTAAAAATTTC	0.527												
TEKT5	146279	broad.mit.edu	37	16	10788514	10788514	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:10788514G>A	uc002czz.1	-	1	289	c.217C>T	c.(217-219)CGG>TGG	p.R73W		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	tektin 5	73					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2						GTGGGCGGCCGCAGGGTACTG	0.637												
CIITA	4261	broad.mit.edu	37	16	11000846	11000846	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:11000846C>T	uc002dai.3	+	11	1630	c.1497C>T	c.(1495-1497)GAC>GAT	p.D499D	CIITA_uc002daj.3_Silent_p.D500D|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Silent_p.D499D|CIITA_uc002dah.2_Silent_p.D451D|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	499	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						TCATCCTAGACGGCTTCGAGG	0.647			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|							
TMC5	79838	broad.mit.edu	37	16	19451526	19451526	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:19451526T>G	uc002dgc.3	+	3	915	c.166T>G	c.(166-168)TCT>GCT	p.S56A	TMC5_uc010vaq.1_Missense_Mutation_p.S56A|TMC5_uc002dgb.3_Missense_Mutation_p.S56A|TMC5_uc010var.1_Missense_Mutation_p.S56A	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	56	Extracellular (Potential).					integral to membrane				skin(1)	1						CAATCCATACTCTGTAGCCTC	0.488												
TMC5	79838	broad.mit.edu	37	16	19498632	19498632	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:19498632G>A	uc002dgc.3	+	17	3306	c.2557G>A	c.(2557-2559)GCC>ACC	p.A853T	TMC5_uc010vaq.1_Missense_Mutation_p.A801T|TMC5_uc002dgb.3_Missense_Mutation_p.A853T|TMC5_uc010var.1_Missense_Mutation_p.A853T|TMC5_uc002dgd.1_Missense_Mutation_p.A607T|TMC5_uc002dge.3_Missense_Mutation_p.A607T|TMC5_uc002dgf.3_Missense_Mutation_p.A536T|TMC5_uc002dgg.3_Missense_Mutation_p.A494T	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	853	Helical; (Potential).					integral to membrane				skin(1)	1						GTGCACCCTGGCCATCACCAT	0.468												
GPR139	124274	broad.mit.edu	37	16	20043576	20043576	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:20043576G>A	uc002dgu.1	-	2	705	c.543C>T	c.(541-543)CAC>CAT	p.H181H	GPR139_uc010vaw.1_Silent_p.H88H	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	181	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(2)	2						AGATGAGGACGTGATGCACAG	0.493												
OTOA	146183	broad.mit.edu	37	16	21739665	21739665	+	Missense_Mutation	SNP	C	C	T	rs145160241		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:21739665C>T	uc002djh.2	+	19	2121	c.2120C>T	c.(2119-2121)GCG>GTG	p.A707V	uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.A628V|OTOA_uc002dji.2_Missense_Mutation_p.A383V|OTOA_uc010vbk.1_Missense_Mutation_p.A355V	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	721					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(48;0.0414)		AGGGCTTGGGCGACTGCTCTA	0.597												
VWA3A	146177	broad.mit.edu	37	16	22163922	22163922	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:22163922C>T	uc010vbq.1	+	31	3468	c.3372C>T	c.(3370-3372)CAC>CAT	p.H1124H	VWA3A_uc010bxd.2_RNA|VWA3A_uc002dkg.3_Silent_p.H202H|VWA3A_uc010bxe.1_Silent_p.H226H	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1124	VWFA 2.					extracellular region				skin(1)	1				GBM - Glioblastoma multiforme(48;0.0439)		CCAAAATTCACAGCCTGCTGA	0.522												
SCNN1B	6338	broad.mit.edu	37	16	23382745	23382745	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:23382745G>A	uc002dln.2	+	6	1182	c.1006G>A	c.(1006-1008)GCC>ACC	p.A336T		NM_000336	NP_000327	P51168	SCNNB_HUMAN	sodium channel, nonvoltage-gated 1, beta	336	Extracellular (By similarity).		A -> P.		excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GGGCATCTACGCCATGTCGGG	0.627												
GGA2	23062	broad.mit.edu	37	16	23494294	23494294	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:23494294G>T	uc002dlq.2	-	9	906	c.830C>A	c.(829-831)CCC>CAC	p.P277H	GGA2_uc010bxo.1_RNA	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	ADP-ribosylation factor binding protein 2	277	GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.0386)		GAACAGCGTGGGCCGCAGCTT	0.577												
ARHGAP17	55114	broad.mit.edu	37	16	24946893	24946893	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:24946893C>T	uc002dnb.2	-	18	1885	c.1792G>A	c.(1792-1794)GCA>ACA	p.A598T	ARHGAP17_uc002dmy.2_Missense_Mutation_p.A43T|ARHGAP17_uc002dmz.2_Missense_Mutation_p.A122T|ARHGAP17_uc002dna.2_Missense_Mutation_p.A325T|ARHGAP17_uc002dnc.2_Missense_Mutation_p.A520T|ARHGAP17_uc010vcf.1_Missense_Mutation_p.A341T	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	598	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)		TGGCCAGATGCTATCTGACTG	0.572												
GTF3C1	2975	broad.mit.edu	37	16	27481632	27481632	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:27481632G>A	uc002dov.1	-	31	4651	c.4611C>T	c.(4609-4611)GAC>GAT	p.D1537D	GTF3C1_uc002dou.2_Silent_p.D1537D	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1537						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						GATCAGGCTGGTCCAACTTGC	0.502												
KIAA0556	23247	broad.mit.edu	37	16	27585252	27585252	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:27585252G>A	uc002dow.2	+	2	62	c.38G>A	c.(37-39)TGG>TAG	p.W13*		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	13										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						GAGAGAAGCTGGTCCTGCTCA	0.488												
CORO1A	11151	broad.mit.edu	37	16	30199821	30199821	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:30199821G>A	uc002dww.2	+	10	1327	c.1205G>A	c.(1204-1206)CGG>CAG	p.R402Q	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010bzq.2_Missense_Mutation_p.R402Q|CORO1A_uc010bzr.2_Intron|CORO1A_uc002dwx.2_Missense_Mutation_p.R296Q|CORO1A_uc002dwy.1_3'UTR|LOC606724_uc002dwz.1_5'Flank	NM_007074	NP_009005	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	402					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						CCAAAGAGCCGGGAGCTGAGG	0.701												
PRSS36	146547	broad.mit.edu	37	16	31154679	31154679	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:31154679C>T	uc002ebd.2	-	8	1143	c.1084G>A	c.(1084-1086)GCC>ACC	p.A362T	PRSS36_uc010vff.1_Missense_Mutation_p.A137T|PRSS36_uc010vfg.1_Missense_Mutation_p.A362T|PRSS36_uc010vfh.1_Missense_Mutation_p.A362T	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	protease, serine, 36 precursor	362	Peptidase S1 2.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			ovary(1)	1						AAGCAGCTGGCAGGTGCCAAG	0.637												
ITGAX	3687	broad.mit.edu	37	16	31371370	31371370	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:31371370G>A	uc002ebu.1	+	7	758	c.691G>A	c.(691-693)GCC>ACC	p.A231T	ITGAX_uc002ebt.2_Missense_Mutation_p.A231T|ITGAX_uc010vfk.1_5'Flank	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	231	VWFA.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CACGGCCACCGCCATCCAAAA	0.517												
ABCC12	94160	broad.mit.edu	37	16	48155695	48155695	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:48155695C>T	uc002efc.1	-	11	1990	c.1644G>A	c.(1642-1644)CAG>CAA	p.Q548Q	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Silent_p.Q548Q	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	548	ABC transporter 1.					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)				TCCATGCCTGCTGTGAAACGT	0.448												
TOX3	27324	broad.mit.edu	37	16	52473718	52473718	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:52473718C>T	uc002egw.2	-	7	1321	c.1150G>A	c.(1150-1152)GCT>ACT	p.A384T	TOX3_uc010vgt.1_Missense_Mutation_p.A379T|TOX3_uc010vgu.1_Missense_Mutation_p.A384T	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	384					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity				0						GGTTTGGGAGCGATTGACCTA	0.502												
IRX3	79191	broad.mit.edu	37	16	54317634	54317634	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:54317634G>A	uc002eht.1	-	4	1886	c.1470C>T	c.(1468-1470)GAC>GAT	p.D490D		NM_024336	NP_077312	P78415	IRX3_HUMAN	iroquois homeobox 3	490					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CCAGGGCGGCGTCCAGATGGT	0.433												
MMP2	4313	broad.mit.edu	37	16	55518003	55518003	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:55518003C>T	uc002ehz.3	+	3	767	c.456C>T	c.(454-456)AGC>AGT	p.S152S	MMP2_uc010vhd.1_Silent_p.S76S|MMP2_uc010ccc.2_Silent_p.S102S	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	152	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	AAGTCTGGAGCGATGTGACCC	0.532												
CDH11	1009	broad.mit.edu	37	16	64984769	64984769	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:64984769C>T	uc002eoi.2	-	12	2229	c.1795G>A	c.(1795-1797)GGG>AGG	p.G599R	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.G599R|CDH11_uc010vin.1_Missense_Mutation_p.G473R	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	599	Cadherin 5.|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)		AGCAGTGCCCCGTTCACGTCG	0.612			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)		
CDH16	1014	broad.mit.edu	37	16	66947046	66947046	+	Missense_Mutation	SNP	G	G	A	rs79541908		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:66947046G>A	uc002eql.2	-	9	1115	c.1042C>T	c.(1042-1044)CTC>TTC	p.L348F	CDH16_uc010cdy.2_Missense_Mutation_p.L348F|CDH16_uc002eqm.2_Missense_Mutation_p.L251F	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	348	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GGTGGACTGAGCTCAGGGATG	0.592												
AGRP	181	broad.mit.edu	37	16	67516943	67516943	+	Silent	SNP	A	A	C	rs77812484		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:67516943A>C	uc002etg.1	-	3	501	c.201T>G	c.(199-201)GCT>GCG	p.A67A	ATP6V0D1_uc002ete.1_5'Flank|ATP6V0D1_uc010vjo.1_5'Flank	NM_001138	NP_001129	O00253	AGRP_HUMAN	agouti related protein homolog isoform 1	67					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)		CCAAGGCCTGAGCCTCCTGCA	0.607												
ACD	65057	broad.mit.edu	37	16	67691889	67691889	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:67691889C>A	uc002etq.3	-	10	1801	c.1464G>T	c.(1462-1464)TGG>TGT	p.W488C	ACD_uc002etp.3_Missense_Mutation_p.W485C|ACD_uc002etr.3_Missense_Mutation_p.W485C|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog isoform 1	488					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			pancreas(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CTATGCTCACCCAGACAGAGC	0.612												
TSNAXIP1	55815	broad.mit.edu	37	16	67860079	67860079	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:67860079G>A	uc002euj.2	+	10	1401	c.1007G>A	c.(1006-1008)CGC>CAC	p.R336H	TSNAXIP1_uc010cep.2_3'UTR|TSNAXIP1_uc010vjz.1_Missense_Mutation_p.R213H|TSNAXIP1_uc002euf.3_Missense_Mutation_p.R69H|TSNAXIP1_uc010vka.1_Missense_Mutation_p.R390H|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.R321H|TSNAXIP1_uc002eug.3_Missense_Mutation_p.R44H|TSNAXIP1_uc002euh.3_Missense_Mutation_p.R44H|TSNAXIP1_uc002eui.3_Missense_Mutation_p.R44H|TSNAXIP1_uc002euk.2_Missense_Mutation_p.R69H	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein	336					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)		GGCCCAGAGCGCTGGCAGATG	0.647												
DPEP2	64174	broad.mit.edu	37	16	68026860	68026860	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:68026860C>T	uc010cey.2	-	1	420	c.256G>A	c.(256-258)GTG>ATG	p.V86M	DPEP2_uc002evd.3_Missense_Mutation_p.V86M|DPEP2_uc002eve.2_Missense_Mutation_p.V86M|DPEP2_uc002evf.2_RNA|DPEP2_uc002evg.2_Missense_Mutation_p.V86M	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN	dipeptidase 2 precursor	86					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CACCCGTCCACGAGCGGGAAG	0.662												
HAS3	3038	broad.mit.edu	37	16	69143549	69143549	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:69143549G>A	uc010cfh.2	+	2	475	c.251G>A	c.(250-252)CGG>CAG	p.R84Q	HAS3_uc002ewk.2_Missense_Mutation_p.R84Q|HAS3_uc010vlk.1_Missense_Mutation_p.R84Q|HAS3_uc002ewl.2_Missense_Mutation_p.R84Q	NM_005329	NP_005320	O00219	HAS3_HUMAN	hyaluronan synthase 3 isoform a	84	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TCCCCGCGGCGGGGCTCGGTG	0.662												
WWP2	11060	broad.mit.edu	37	16	69964118	69964118	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:69964118C>T	uc002exu.1	+	14	1491	c.1402C>T	c.(1402-1404)CGC>TGC	p.R468C	WWP2_uc002exv.1_Missense_Mutation_p.R468C|WWP2_uc010vlm.1_Missense_Mutation_p.R352C|WWP2_uc010vln.1_Missense_Mutation_p.R86C|WWP2_uc002exw.1_Missense_Mutation_p.R29C|uc002exx.1_5'Flank|MIR140_hsa-mir-140|MI0000456_5'Flank	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	468	WW 4.				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						CCACAATACCCGCACCACCAC	0.582											OREG0023910	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
COG4	25839	broad.mit.edu	37	16	70557297	70557297	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:70557297G>A	uc002ezc.2	-	1	161	c.150C>T	c.(148-150)TAC>TAT	p.Y50Y	COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Silent_p.Y50Y|COG4_uc002eze.2_Translation_Start_Site|SF3B3_uc002ezf.2_5'Flank	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	46	Interacts with SCFD1.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)				AGAGCCGTTCGTATACAGCCT	0.627												
ZFHX3	463	broad.mit.edu	37	16	72828552	72828552	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:72828552C>T	uc002fck.2	-	9	8702	c.8029G>A	c.(8029-8031)GAG>AAG	p.E2677K	ZFHX3_uc002fcl.2_Missense_Mutation_p.E1763K	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	2677	Homeobox 3.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				AAGCCCACCTCGTGTGCAATG	0.502												
GLG1	2734	broad.mit.edu	37	16	74496466	74496466	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:74496466C>T	uc002fcy.3	-	21	2904	c.2854G>A	c.(2854-2856)GGT>AGT	p.G952S	GLG1_uc002fcx.2_Missense_Mutation_p.G952S|GLG1_uc002fcw.3_Missense_Mutation_p.G941S|GLG1_uc002fcz.3_Missense_Mutation_p.G369S	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN	golgi apparatus protein 1 isoform 3	952	Cys-rich GLG1 14.|Extracellular (Potential).					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2						GTCAGGATACCGTGACAGAAT	0.443												
MLKL	197259	broad.mit.edu	37	16	74729299	74729299	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:74729299C>T	uc002fdb.2	-	2	798	c.357G>A	c.(355-357)GAG>GAA	p.E119E	MLKL_uc002fdc.2_Silent_p.E119E	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like isoform 1	119							ATP binding|protein binding|protein kinase activity			stomach(2)	2						GCATGCGTTGCTCAACCTGAA	0.512												
CNTNAP4	85445	broad.mit.edu	37	16	76587778	76587778	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:76587778T>C	uc002feu.1	+	25	4092	c.3707T>C	c.(3706-3708)ATC>ACC	p.I1236T	CNTNAP4_uc002fev.1_Missense_Mutation_p.I1100T|CNTNAP4_uc010chb.1_Missense_Mutation_p.I1163T|CNTNAP4_uc002fex.1_Missense_Mutation_p.I1239T	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	1236	Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						GCTAATGCAATCAAAAGTGAC	0.363												
ADAMTS18	170692	broad.mit.edu	37	16	77356319	77356319	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:77356319A>T	uc002ffc.3	-	14	2496	c.2077T>A	c.(2077-2079)TTT>ATT	p.F693I	ADAMTS18_uc010chc.1_Missense_Mutation_p.F281I|ADAMTS18_uc002ffe.1_Missense_Mutation_p.F389I	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	693	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						GCAAAAAAAAATTCAAAGTTC	0.388												
BCMO1	53630	broad.mit.edu	37	16	81320986	81320986	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:81320986G>A	uc002fgn.1	+	10	1607	c.1389G>A	c.(1387-1389)GCG>GCA	p.A463A	BCMO1_uc010vnp.1_Silent_p.A394A	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase	463					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity				0						TTGTGCCCGCGCCAGGTGCCA	0.517												
CDH13	1012	broad.mit.edu	37	16	83065685	83065685	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:83065685C>T	uc002fgx.2	+	3	348	c.228C>T	c.(226-228)AAC>AAT	p.N76N	CDH13_uc010chh.2_Silent_p.N76N|CDH13_uc010vns.1_Silent_p.N123N|CDH13_uc010vnt.1_Intron|CDH13_uc010vnu.1_Silent_p.N76N	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	76					adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TCAAGGTGAACAGCGATGGCG	0.512												
ZC3H18	124245	broad.mit.edu	37	16	88694379	88694379	+	Missense_Mutation	SNP	C	C	T	rs139646372	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:88694379C>T	uc002fky.2	+	15	2521	c.2321C>T	c.(2320-2322)TCG>TTG	p.S774L	ZC3H18_uc010voz.1_Missense_Mutation_p.S798L|ZC3H18_uc010chw.2_Intron|ZC3H18_uc002fkz.2_Missense_Mutation_p.S44L	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	774						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AAAAGGGATTCGTCCACACAA	0.547												
APRT	353	broad.mit.edu	37	16	88876887	88876887	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:88876887G>A	uc002flv.2	-	3	300	c.265C>T	c.(265-267)CGG>TGG	p.R89W	APRT_uc002flw.2_Missense_Mutation_p.R89W	NM_000485	NP_000476	P07741	APT_HUMAN	adenine phosphoribosyltransferase isoform a	89					purine ribonucleoside salvage	cytosol|nucleus	adenine phosphoribosyltransferase activity|AMP binding|protein binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	AGCTTCCCCCGCTTTCGGATG	0.652												
SPG7	6687	broad.mit.edu	37	16	89614458	89614458	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:89614458C>T	uc002fnj.2	+	12	1621	c.1600C>T	c.(1600-1602)CGG>TGG	p.R534W	SPG7_uc002fnk.1_RNA|SPG7_uc002fnl.2_5'Flank	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 isoform 1	534	Mitochondrial matrix (Potential).				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GCACGCGGCGCGGGAGGGACA	0.637												
CENPBD1	92806	broad.mit.edu	37	16	90038269	90038269	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:90038269G>A	uc002fpr.2	-	1	674	c.62C>T	c.(61-63)GCG>GTG	p.A21V	AFG3L1_uc002fps.1_5'Flank|AFG3L1_uc002fpt.1_5'Flank|AFG3L1_uc002fpu.1_5'Flank|AFG3L1_uc002fpv.1_5'Flank|AFG3L1_uc002fpw.1_5'Flank|AFG3L1_uc002fpx.1_5'Flank	NM_145039	NP_659476	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1	21	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0						AAGGGTAATCGCTTTCCGTTC	0.483												
NXN	64359	broad.mit.edu	37	17	725610	725610	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:725610C>T	uc002fsa.2	-	4	792	c.700G>A	c.(700-702)GTT>ATT	p.V234I	NXN_uc002fsb.1_Missense_Mutation_p.V121I|NXN_uc010vqd.1_5'UTR|NXN_uc002frz.2_5'UTR|NXN_uc010vqe.1_Missense_Mutation_p.V126I	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	nucleoredoxin	234	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			ovary(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		TCTGCACTAACGAAGATGATC	0.473												
SLC43A2	124935	broad.mit.edu	37	17	1520058	1520058	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:1520058C>T	uc002fsv.2	-	3	255	c.166G>A	c.(166-168)GTC>ATC	p.V56I	SLC43A2_uc002fsu.2_Missense_Mutation_p.V56I|SLC43A2_uc002fsw.2_Missense_Mutation_p.V56I|SLC43A2_uc002fsx.2_Missense_Mutation_p.V56I	NM_152346	NP_689559	Q8N370	LAT4_HUMAN	solute carrier family 43, member 2	56					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		CCATTGGTGACATTCTCTGTG	0.597												
WDR81	124997	broad.mit.edu	37	17	1640830	1640830	+	Missense_Mutation	SNP	G	G	A	rs139156426		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:1640830G>A	uc002fti.2	+	10	2257	c.1996G>A	c.(1996-1998)GTC>ATC	p.V666I	WDR81_uc002fth.2_Missense_Mutation_p.V842I|WDR81_uc010vqp.1_Missense_Mutation_p.V690I|WDR81_uc002ftj.2_Missense_Mutation_p.V1893I|WDR81_uc010vqq.1_Missense_Mutation_p.V524I	NM_001163811	NP_001157283	Q562E7	WDR81_HUMAN	WD repeat domain 81 isoform 4	666										skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAAGATTGGCGTCTGCTCCCT	0.612												
SERPINF1	5176	broad.mit.edu	37	17	1679914	1679914	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:1679914G>A	uc002ftl.2	+	7	1032	c.875G>A	c.(874-876)AGC>AAC	p.S292N	SERPINF1_uc010cjw.2_Missense_Mutation_p.S105N	NM_002615	NP_002606	P36955	PEDF_HUMAN	serine (or cysteine) proteinase inhibitor, clade	292					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			ovary(1)	1						ATAGAGGAGAGCCTCACCTCC	0.522												
ITGAE	3682	broad.mit.edu	37	17	3655092	3655092	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:3655092G>A	uc002fwo.3	-	15	1844	c.1745C>T	c.(1744-1746)GCG>GTG	p.A582V		NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	582	FG-GAP 6.|Extracellular (Potential).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CCCCATAGCCGCCATGGCAAA	0.572												
MYBBP1A	10514	broad.mit.edu	37	17	4446359	4446359	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:4446359T>G	uc002fyb.3	-	20	2803	c.2741A>C	c.(2740-2742)CAG>CCG	p.Q914P	MYBBP1A_uc002fxz.3_Missense_Mutation_p.Q914P|MYBBP1A_uc002fya.3_5'Flank|MYBBP1A_uc010vsa.1_5'UTR	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	914					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2						GGAGTCGGGCTGGCGGCCAGC	0.682												
MYBBP1A	10514	broad.mit.edu	37	17	4448439	4448439	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:4448439C>T	uc002fyb.3	-	17	2254	c.2192G>A	c.(2191-2193)AGC>AAC	p.S731N	MYBBP1A_uc002fxz.3_Missense_Mutation_p.S731N|MYBBP1A_uc002fya.3_5'Flank|MYBBP1A_uc010vsa.1_5'Flank	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	731	Glu-rich.				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2						actctcTGAGCTTCTGTTGTC	0.453												
PELP1	27043	broad.mit.edu	37	17	4594694	4594694	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:4594694C>T	uc002fyi.3	-	2	519	c.293G>A	c.(292-294)CGT>CAT	p.R98H	PELP1_uc010vsf.1_5'UTR	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	proline, glutamic acid and leucine rich protein	98					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			ovary(1)|central_nervous_system(1)	2						GGAACTGAGACGTGCATTACT	0.453												
TM4SF5	9032	broad.mit.edu	37	17	4685809	4685809	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:4685809G>A	uc002fyw.1	+	3	301	c.270G>A	c.(268-270)TCG>TCA	p.S90S		NM_003963	NP_003954	O14894	T4S5_HUMAN	transmembrane 4 superfamily member 5	90	Cytoplasmic (Potential).					integral to plasma membrane				ovary(1)	1						TGCTGCGCTCGGTCTTCTCCT	0.602												
RNF167	26001	broad.mit.edu	37	17	4848022	4848022	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:4848022G>A	uc002fzq.2	+	11	1180	c.764G>A	c.(763-765)CGC>CAC	p.R255H	RNF167_uc002fzr.2_Missense_Mutation_p.R255H|RNF167_uc002fzs.2_Missense_Mutation_p.R255H|RNF167_uc002fzt.2_Missense_Mutation_p.R255H|RNF167_uc002fzu.2_Missense_Mutation_p.R254H|RNF167_uc002fzv.2_Missense_Mutation_p.R220H|RNF167_uc002fzx.2_Missense_Mutation_p.R219H|RNF167_uc002fzy.2_Missense_Mutation_p.R54H	NM_015528	NP_056343	Q9H6Y7	RN167_HUMAN	ring finger protein 167 precursor	255	RING-type; atypical.				negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						TACCACAGCCGCTGCGTGGAC	0.622												
BCL6B	255877	broad.mit.edu	37	17	6927588	6927588	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:6927588C>T	uc002geg.2	+	3	423	c.366C>T	c.(364-366)CAC>CAT	p.H122H	BCL6B_uc010clt.1_Silent_p.H122H	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B (zinc finger	122						nucleus	zinc ion binding			skin(1)	1						AGATGGAGCACGTGGTCCAGG	0.602												
ACAP1	9744	broad.mit.edu	37	17	7252342	7252342	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:7252342G>A	uc002ggd.2	+	18	1913	c.1707G>A	c.(1705-1707)CTG>CTA	p.L569L	KCTD11_uc002gge.3_5'Flank	NM_014716	NP_055531	Q15027	ACAP1_HUMAN	centaurin beta1	569	Required for interaction with GULP1.				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						TGGGAAGCCTGCACCCTGGGG	0.597												
ZBTB4	57659	broad.mit.edu	37	17	7369348	7369348	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:7369348C>T	uc002ghc.3	-	3	1023	c.773G>A	c.(772-774)CGA>CAA	p.R258Q	ZBTB4_uc002ghd.3_Missense_Mutation_p.R258Q	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GCTGGCCCCTCGTCGGCACTG	0.706												
KDM6B	23135	broad.mit.edu	37	17	7750871	7750871	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:7750871C>T	uc002giw.1	+	11	1641	c.1265C>T	c.(1264-1266)GCT>GTT	p.A422V	KDM6B_uc002gix.2_5'UTR	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	422	Pro-rich.				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						CAGCCCGGCGCTGACCATTAC	0.597												
ALOXE3	59344	broad.mit.edu	37	17	7999976	7999976	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:7999976G>T	uc010cnr.2	-	16	2475	c.2105C>A	c.(2104-2106)CCT>CAT	p.P702H	ALOXE3_uc002gka.2_Missense_Mutation_p.P858H|ALOXE3_uc010vuo.1_Missense_Mutation_p.P834H	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3 isoform 2	702	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			skin(3)|lung(1)|central_nervous_system(1)	5						AATGAGGGGAGGGTCCAGGTA	0.592												
PFAS	5198	broad.mit.edu	37	17	8158378	8158378	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:8158378C>T	uc002gkr.2	+	4	453	c.312C>T	c.(310-312)ATC>ATT	p.I104I	PFAS_uc010vuv.1_5'UTR	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	104					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCACCAACATCGTGTCAGTGT	0.632												
KRBA2	124751	broad.mit.edu	37	17	8272949	8272949	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:8272949C>T	uc002glf.1	-	2	988	c.982G>A	c.(982-984)GTT>ATT	p.V328I	KRBA2_uc002glg.1_Missense_Mutation_p.V245I	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	328	Integrase catalytic.				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding				0						GTGAACTCAACGCCACTGTCA	0.478												
MYH10	4628	broad.mit.edu	37	17	8396161	8396161	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:8396161G>A	uc002gll.2	-	31	4394	c.4298C>T	c.(4297-4299)ACG>ATG	p.T1433M	MYH10_uc002glm.2_Missense_Mutation_p.T1464M|MYH10_uc010cnx.2_Missense_Mutation_p.T1442M	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1433	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						CAGGTCCACCGTGAGGTCGTC	0.622												
USP43	124739	broad.mit.edu	37	17	9615374	9615374	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:9615374T>G	uc010cod.2	+	14	2260	c.2260T>G	c.(2260-2262)TCT>GCT	p.S754A	USP43_uc002gma.3_Missense_Mutation_p.S443A|USP43_uc010vva.1_Missense_Mutation_p.S749A|USP43_uc010coe.2_Missense_Mutation_p.S551A|USP43_uc002gmc.3_Missense_Mutation_p.S266A	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	754					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						GTCCTGGAGCTCTGCCCCCTG	0.587												
MYH13	8735	broad.mit.edu	37	17	10231407	10231407	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:10231407G>T	uc002gmk.1	-	22	2557	c.2467C>A	c.(2467-2469)CGC>AGC	p.R823S		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	823					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						ATAAAAGAGCGGATGTTGTAC	0.507											OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DNAH9	1770	broad.mit.edu	37	17	11778363	11778363	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:11778363G>A	uc002gne.2	+	53	10408	c.10340G>A	c.(10339-10341)CGC>CAC	p.R3447H	DNAH9_uc010coo.2_Missense_Mutation_p.R2741H	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3447	AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCAGCCGACCGCATGTCCGTG	0.557												
DNAH9	1770	broad.mit.edu	37	17	11806149	11806149	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:11806149G>T	uc002gne.2	+	60	11588	c.11520G>T	c.(11518-11520)CAG>CAT	p.Q3840H	DNAH9_uc010coo.2_Missense_Mutation_p.Q3134H|DNAH9_uc002gnf.2_Missense_Mutation_p.Q152H|DNAH9_uc010vvh.1_Missense_Mutation_p.Q193H	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3840					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGCTCCCACAGGAGTGGAAGA	0.532												
MYOCD	93649	broad.mit.edu	37	17	12661453	12661453	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:12661453T>C	uc002gnn.2	+	11	2409	c.2110T>C	c.(2110-2112)TCC>CCC	p.S704P	MYOCD_uc002gno.2_Missense_Mutation_p.S752P|MYOCD_uc002gnp.1_Missense_Mutation_p.S656P|MYOCD_uc002gnq.2_Intron	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	704					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TTCAATTCCATCCCCAACTTT	0.398												
MPRIP	23164	broad.mit.edu	37	17	17075070	17075070	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:17075070G>A	uc002gqu.1	+	16	2258	c.2202G>A	c.(2200-2202)ACG>ACA	p.T734T	MPRIP_uc002gqv.1_Silent_p.T734T|MPRIP_uc002gqw.1_Silent_p.T489T|MPRIP_uc002gqx.1_Silent_p.T963T|MPRIP_uc002gqy.1_Silent_p.T963T|MPRIP_uc010cpl.1_5'Flank|MPRIP_uc010cpm.1_5'Flank	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	734	Interaction with RHOA.|Potential.					cytoplasm|cytoskeleton	actin binding				0						TGGAAGAAACGCACCAGAAGA	0.527												
RAI1	10743	broad.mit.edu	37	17	17698482	17698482	+	Silent	SNP	C	C	T	rs149807469		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:17698482C>T	uc002grm.2	+	3	2689	c.2220C>T	c.(2218-2220)AGC>AGT	p.S740S	RAI1_uc002grn.1_Silent_p.S740S	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	740						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CAGCGGACAGCGCCAACCCCT	0.622												
SREBF1	6720	broad.mit.edu	37	17	17720322	17720322	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:17720322C>T	uc002gru.1	-	9	1929	c.1735G>A	c.(1735-1737)GCC>ACC	p.A579T	SREBF1_uc002grp.1_Missense_Mutation_p.A198T|SREBF1_uc002grq.1_Missense_Mutation_p.A98T|SREBF1_uc002grr.1_Missense_Mutation_p.A325T|SREBF1_uc002grs.1_Missense_Mutation_p.A555T|SREBF1_uc002grt.1_Missense_Mutation_p.A609T	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	579	Cytoplasmic (Potential).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						AAGTACACGGCGGGGCCTGAG	0.667												
TOM1L2	146691	broad.mit.edu	37	17	17766046	17766046	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:17766046T>C	uc002grz.3	-	11	1358	c.1201A>G	c.(1201-1203)ACG>GCG	p.T401A	TOM1L2_uc002gry.3_Missense_Mutation_p.T351A|TOM1L2_uc010vwy.1_Missense_Mutation_p.T348A|TOM1L2_uc010cpr.2_Missense_Mutation_p.T356A|TOM1L2_uc010vwz.1_Missense_Mutation_p.T253A|TOM1L2_uc010vxa.1_Missense_Mutation_p.T303A|TOM1L2_uc002grv.3_Missense_Mutation_p.T134A	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 isoform 3	401					intracellular protein transport	intracellular					0	all_neural(463;0.228)					CCCACATACGTCTTGCGCTGC	0.527												
SLC5A10	125206	broad.mit.edu	37	17	18874437	18874437	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:18874437A>T	uc002guu.1	+	8	793	c.752A>T	c.(751-753)CAC>CTC	p.H251L	SLC5A10_uc002gur.1_Missense_Mutation_p.H168L|SLC5A10_uc002gut.1_Missense_Mutation_p.H251L|SLC5A10_uc002guv.1_Missense_Mutation_p.H224L|SLC5A10_uc010vyl.1_Missense_Mutation_p.H251L|FAM83G_uc002guw.2_3'UTR	NM_001042450	NP_001035915	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/glucose	251	Extracellular (Potential).				sodium ion transport|transmembrane transport	integral to membrane	transporter activity			ovary(1)	1						GACGCCATGCACATGTTTCGA	0.627												
ALDH3A2	224	broad.mit.edu	37	17	19568354	19568354	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:19568354G>T	uc002gwb.1	+	8	1422	c.1201G>T	c.(1201-1203)GGA>TGA	p.G401*	ALDH3A2_uc002gwa.1_Nonsense_Mutation_p.G401*|ALDH3A2_uc010cqr.1_Nonsense_Mutation_p.G208*|ALDH3A2_uc002gwc.1_Nonsense_Mutation_p.G401*|ALDH3A2_uc002gwd.1_Nonsense_Mutation_p.G208*	NM_000382	NP_000373	P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3A2 isoform 2	401	Cytoplasmic.				cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(2)	2	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	CCCATTTGGAGGAGTGGGTGA	0.453												
KIAA0100	9703	broad.mit.edu	37	17	26943183	26943183	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:26943183C>T	uc002hbu.2	-	37	6420	c.6321G>A	c.(6319-6321)GAG>GAA	p.E2107E	SGK494_uc010waq.1_5'Flank|SGK494_uc010war.1_5'Flank|SGK494_uc002hbr.1_5'Flank|uc002hbs.1_Intron|KIAA0100_uc002hbt.2_Silent_p.E436E	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	2107						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					TGGCAGCTCGCTCTTTCATCT	0.478												
RAB34	83871	broad.mit.edu	37	17	27042914	27042914	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:27042914C>T	uc002hce.2	-	4	842	c.218G>A	c.(217-219)TGC>TAC	p.C73Y	RAB34_uc002hcg.2_Missense_Mutation_p.C73Y|RAB34_uc002hcf.2_Missense_Mutation_p.C74Y|RAB34_uc010was.1_Missense_Mutation_p.C130Y|RAB34_uc010wat.1_Missense_Mutation_p.C130Y|RAB34_uc002hch.2_Missense_Mutation_p.C73Y|RAB34_uc010wau.1_Missense_Mutation_p.C51Y|RAB34_uc010wav.1_Missense_Mutation_p.C131Y	NM_031934	NP_114140	Q9BZG1	RAB34_HUMAN	Ras-related protein RAB34 isoform 1	73					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding				0	Lung NSC(42;0.00431)					GGTGTCTTTGCAGAACCTGAG	0.547												
PHF12	57649	broad.mit.edu	37	17	27251130	27251130	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:27251130G>A	uc002hdg.1	-	4	1042	c.512C>T	c.(511-513)GCC>GTC	p.A171V	PHF12_uc010wbb.1_Missense_Mutation_p.A153V|PHF12_uc002hdi.1_Missense_Mutation_p.A167V|PHF12_uc002hdj.1_Missense_Mutation_p.A171V|PHF12_uc010crw.1_Intron|uc002hdl.2_5'Flank|PHF12_uc002hdh.1_5'UTR	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	PHD finger protein 12 isoform 1	171	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CTCTGTGCTGGCGCTGGATGT	0.567												
SSH2	85464	broad.mit.edu	37	17	28003848	28003848	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:28003848G>A	uc002heo.1	-	7	523	c.523C>T	c.(523-525)CAG>TAG	p.Q175*	SSH2_uc010wbh.1_Nonsense_Mutation_p.Q202*|SSH2_uc002hep.1_Nonsense_Mutation_p.Q175*|SSH2_uc002heq.2_Nonsense_Mutation_p.Q182*|SSH2_uc002her.2_Nonsense_Mutation_p.Q175*|SSH2_uc010csc.1_Nonsense_Mutation_p.Q175*	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	175					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						CACATTGCCTGCACAGATACA	0.348												
RDM1	201299	broad.mit.edu	37	17	34257080	34257080	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:34257080C>A	uc002hkh.2	-	2	325	c.276G>T	c.(274-276)AAG>AAT	p.K92N	RDM1_uc010cty.2_RNA|RDM1_uc010ctz.2_Missense_Mutation_p.K69N|RDM1_uc010cua.2_Missense_Mutation_p.K69N|RDM1_uc002hkg.3_Missense_Mutation_p.K69N|RDM1_uc010cub.2_RNA|RDM1_uc010cud.2_Missense_Mutation_p.K92N|RDM1_uc010cuf.2_RNA|RDM1_uc010cue.2_Intron|RDM1_uc010cug.2_RNA|RDM1_uc010cuc.2_Missense_Mutation_p.K92N|RDM1_uc010wco.1_Missense_Mutation_p.K69N|RDM1_uc010wcp.1_Missense_Mutation_p.K69N|RDM1_uc002hki.2_Missense_Mutation_p.K92N	NM_145654	NP_663629	Q8NG50	RDM1_HUMAN	RAD52 motif 1 isoform 1	92	RRM.|Necessary for nuclear and nucleolar localization.|Necessary for nuclear localization and for nucleolar accumulation in response to heat shock.				DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TTGGACCCACCTTGACTGGAG	0.358								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function				
GPR179	440435	broad.mit.edu	37	17	36483525	36483525	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:36483525C>T	uc002hpz.2	-	11	5948	c.5927G>A	c.(5926-5928)CGC>CAC	p.R1976H		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1976	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTGGTCAGGGCGCTGTCTGTC	0.552												
CDK12	51755	broad.mit.edu	37	17	37673788	37673788	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:37673788G>A	uc010cvv.2	+	10	3528	c.2942G>A	c.(2941-2943)CGT>CAT	p.R981H	CDK12_uc010wef.1_Missense_Mutation_p.R980H|CDK12_uc002hrw.3_Missense_Mutation_p.R981H	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	981	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						TATCGAAGGCGTCTACGAGAA	0.473										TCGA Ovarian(9;0.13)		
ZPBP2	124626	broad.mit.edu	37	17	38024801	38024801	+	Splice_Site	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:38024801G>A	uc002hte.2	+	2	206	c.53_splice	c.e2-1	p.V18_splice	ZPBP2_uc002htf.2_Intron	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2 isoform 2						binding of sperm to zona pellucida	extracellular region				ovary(1)	1	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TTCCTCCGCAGTCCAATGCCC	0.547												
KRT28	162605	broad.mit.edu	37	17	38955915	38955915	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:38955915G>A	uc002hvh.1	-	1	297	c.231C>T	c.(229-231)AGC>AGT	p.S77S		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	77	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				GTCCCCCTTCGCTTCCAGCAA	0.537												
KRT38	8687	broad.mit.edu	37	17	39593778	39593778	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:39593778C>T	uc002hwq.1	-	7	1680	c.1257G>A	c.(1255-1257)CCG>CCA	p.P419P		NM_006771	NP_006762	O76015	KRT38_HUMAN	keratin 38	419	Tail.					intermediate filament	structural molecule activity			skin(2)	2		Breast(137;0.000496)				ACGTGGAGCACGGATTGCAGG	0.637												
JUP	3728	broad.mit.edu	37	17	39680724	39680724	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:39680724G>A	uc010wfs.1	-	7	1226	c.1218C>T	c.(1216-1218)ACC>ACT	p.T406T	KRT15_uc002hxb.1_5'Flank|uc002hxc.1_5'Flank|KRT19_uc002hxd.3_Silent_p.T243T	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	Error:Variant_position_missing_in_P14923_after_alignment					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TGGCGAGATCGGTGCCCGGAG	0.572												
PSMC3IP	29893	broad.mit.edu	37	17	40729286	40729286	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:40729286T>C	uc002iai.2	-	3	213	c.170A>G	c.(169-171)CAA>CGA	p.Q57R	PSMC3IP_uc002iaj.2_5'UTR|PSMC3IP_uc002iak.2_Missense_Mutation_p.Q57R|PSMC3IP_uc010wgn.1_5'UTR|PSMC3IP_uc010wgo.1_RNA|PSMC3IP_uc010wgp.1_RNA	NM_016556	NP_057640	Q9P2W1	HOP2_HUMAN	PSMC3 interacting protein isoform 2	57					DNA recombination|meiosis	nucleus	DNA binding			upper_aerodigestive_tract(1)|skin(1)	2		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GATCTTGCCTTGTTGCGCCAG	0.547												
TUBG2	27175	broad.mit.edu	37	17	40818663	40818663	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:40818663C>T	uc010wgr.1	+	11	1457	c.1201C>T	c.(1201-1203)CGG>TGG	p.R401W	TUBG2_uc002iaq.2_3'UTR|TUBG2_uc002iar.2_Missense_Mutation_p.R248W|TUBG2_uc002ias.2_Missense_Mutation_p.R243W|TUBG2_uc002iap.2_Missense_Mutation_p.R248W	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	401					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		GCTGCGGAAGCGGGATGCCTT	0.498												
DHX8	1659	broad.mit.edu	37	17	41570275	41570275	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:41570275C>T	uc002idu.1	+	6	803	c.730C>T	c.(730-732)CGG>TGG	p.R244W	DHX8_uc010wif.1_Missense_Mutation_p.R153W|DHX8_uc010wig.1_Missense_Mutation_p.R244W	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	244						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ATATGGAGAGCGGAATCTGGA	0.527												
MPP3	4356	broad.mit.edu	37	17	41879176	41879176	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:41879176C>T	uc002iei.3	-	20	1817	c.1651G>A	c.(1651-1653)GCC>ACC	p.A551T	MPP3_uc002ieh.2_Missense_Mutation_p.A576T|MPP3_uc002iej.2_RNA	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	551	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)|skin(1)	2		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		ACCAGCACGGCGTCTACCAGG	0.562												
HDAC5	10014	broad.mit.edu	37	17	42156018	42156018	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:42156018C>T	uc002ifd.1	-	26	3390	c.3179G>A	c.(3178-3180)TGT>TAT	p.C1060Y	HDAC5_uc002ife.1_Missense_Mutation_p.C1060Y|HDAC5_uc002iff.1_Missense_Mutation_p.C1061Y|HDAC5_uc010czp.1_Missense_Mutation_p.C975Y	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 1	1060					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CTTCTGCACACAGCTCCAGTG	0.642												
RUNDC3A	10900	broad.mit.edu	37	17	42390862	42390862	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:42390862G>A	uc002igl.3	+	4	723	c.449G>A	c.(448-450)CGG>CAG	p.R150Q	RUNDC3A_uc002igi.2_Missense_Mutation_p.R150Q|RUNDC3A_uc002igj.2_Missense_Mutation_p.R145Q|RUNDC3A_uc002igk.2_Missense_Mutation_p.R146Q	NM_001144825	NP_001138297	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A isoform 1	150	Interaction with RAP2A (By similarity).|RUN.				small GTPase mediated signal transduction		small GTPase regulator activity				0		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CGTGACACCCGGACCACCAGG	0.552												
KIAA1267	284058	broad.mit.edu	37	17	44116010	44116010	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:44116010G>A	uc002ikb.2	-	9	2520	c.2435C>T	c.(2434-2436)GCA>GTA	p.A812V	KIAA1267_uc002ikc.2_Missense_Mutation_p.A812V|KIAA1267_uc002ikd.2_Missense_Mutation_p.A812V|KIAA1267_uc010dav.2_Missense_Mutation_p.A812V|KIAA1267_uc010wkb.1_Missense_Mutation_p.A143V|KIAA1267_uc010wkc.1_Missense_Mutation_p.A80V	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	812						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				GTGGGTGGCTGCCAAGTAGCT	0.527												
NFE2L1	4779	broad.mit.edu	37	17	46136299	46136299	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:46136299G>A	uc002imz.3	+	6	2266	c.1615G>A	c.(1615-1617)GAG>AAG	p.E539K	NFE2L1_uc002ina.3_Missense_Mutation_p.E509K|NFE2L1_uc002inb.3_Missense_Mutation_p.E509K|NFE2L1_uc010wle.1_Missense_Mutation_p.E351K|NFE2L1_uc010wlf.1_Missense_Mutation_p.E383K	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	nuclear factor erythroid 2-like 1	539					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						GGAAGAGGCCGAGGGTGCTGT	0.473												
SCPEP1	59342	broad.mit.edu	37	17	55083545	55083545	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:55083545C>T	uc002iuv.3	+	13	1361	c.1308C>T	c.(1306-1308)GAC>GAT	p.D436D	SCPEP1_uc010dcl.2_RNA|SCPEP1_uc010wnk.1_Silent_p.D386D	NM_021626	NP_067639	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1 precursor	436					proteolysis	extracellular region	serine-type carboxypeptidase activity			skin(1)	1	Breast(9;2.86e-08)					TTCCTTCTGACCAAGGGGACA	0.517												
RNF43	54894	broad.mit.edu	37	17	56437605	56437605	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:56437605C>T	uc002iwf.2	-	7	2813	c.857G>A	c.(856-858)CGG>CAG	p.R286Q	RNF43_uc010wnv.1_Missense_Mutation_p.R245Q|RNF43_uc002iwh.3_Missense_Mutation_p.R286Q|RNF43_uc002iwg.3_Missense_Mutation_p.R286Q|RNF43_uc010dcw.2_Missense_Mutation_p.R159Q	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43 precursor	286	RING-type; atypical.|Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			ovary(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGAAATGACCCGTAGCTCCTG	0.532												
CLTC	1213	broad.mit.edu	37	17	57744280	57744280	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:57744280T>C	uc002ixq.1	+	13	2513	c.2070T>C	c.(2068-2070)CAT>CAC	p.H690H	CLTC_uc002ixp.2_Silent_p.H690H|CLTC_uc002ixr.1_Silent_p.H694H	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	690	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTAAATATCATGAACAACTGT	0.373			T	ALK|TFE3	ALCL|renal 							
CLTC	1213	broad.mit.edu	37	17	57771129	57771129	+	Silent	SNP	C	C	A	rs148633723		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:57771129C>A	uc002ixq.1	+	32	5387	c.4944C>A	c.(4942-4944)GCC>GCA	p.A1648A	CLTC_uc002ixr.1_Silent_p.A1652A	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	1648	Heavy chain arm.|Proximal segment.|Trimerization (By similarity).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CCAGTGTTGCCGTCCCTCCCC	0.557			T	ALK|TFE3	ALCL|renal 							
HEATR6	63897	broad.mit.edu	37	17	58134524	58134524	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:58134524C>T	uc002iyk.1	-	12	1981	c.1964G>A	c.(1963-1965)CGA>CAA	p.R655Q	HEATR6_uc010ddk.1_Missense_Mutation_p.R194Q|HEATR6_uc010wos.1_Missense_Mutation_p.R487Q	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	655							binding			ovary(1)|skin(1)	2	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			AATGCAGAGTCGAATGAGCCA	0.557												
HEATR6	63897	broad.mit.edu	37	17	58147131	58147131	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:58147131C>T	uc002iyk.1	-	7	897	c.880G>A	c.(880-882)GAT>AAT	p.D294N	HEATR6_uc010wos.1_Missense_Mutation_p.D126N	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	294							binding			ovary(1)|skin(1)	2	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GTTCGCCCATCATACTGAGGA	0.398												
TANC2	26115	broad.mit.edu	37	17	61497887	61497887	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:61497887G>A	uc002jal.3	+	25	4567	c.4544G>A	c.(4543-4545)CGT>CAT	p.R1515H	TANC2_uc010wpe.1_3'UTR|TANC2_uc002jao.3_Missense_Mutation_p.R626H	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1515							binding			ovary(2)	2						GGATCTTACCGTTTCAGCCCC	0.597												
FTSJ3	117246	broad.mit.edu	37	17	61898993	61898993	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:61898993G>A	uc002jbz.2	-	15	1685	c.1607C>T	c.(1606-1608)GCT>GTT	p.A536V	FTSJ3_uc002jca.2_Missense_Mutation_p.A536V	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3	536					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1						CTCGATCCCAGCAAAGCTGCC	0.592												
SMARCD2	6603	broad.mit.edu	37	17	61912092	61912092	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:61912092C>T	uc010deb.1	-	6	1109	c.792G>A	c.(790-792)CTG>CTA	p.L264L	SMARCD2_uc010wpt.1_Silent_p.L216L|SMARCD2_uc010dea.1_Silent_p.L189L|SMARCD2_uc010dec.1_Silent_p.L243L	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	SWI/SNF-related matrix-associated	264					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity				0						CAGGCCCGTACAGCTCCTTGT	0.552											OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SCN4A	6329	broad.mit.edu	37	17	62020407	62020407	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:62020407T>C	uc002jds.1	-	23	4144	c.4067A>G	c.(4066-4068)GAC>GGC	p.D1356G		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1356	Helical; Name=S1 of repeat IV; (Potential).|IV.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	GATGGTGATGTCGAAGGCCTG	0.552												
ARSG	22901	broad.mit.edu	37	17	66303763	66303763	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:66303763C>T	uc002jhc.2	+	2	925	c.129C>T	c.(127-129)GCC>GCT	p.A43A	ARSG_uc002jhb.1_Intron	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Arylsulfatase G precursor	43					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTATTTTGGCCGATGACATGG	0.478												
ABCA8	10351	broad.mit.edu	37	17	66937011	66937011	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:66937011G>A	uc002jhp.2	-	3	368	c.189C>T	c.(187-189)GAC>GAT	p.D63D	ABCA8_uc002jhq.2_Silent_p.D63D|ABCA8_uc010wqq.1_Silent_p.D63D|ABCA8_uc010wqr.1_Silent_p.D2D|ABCA8_uc002jhr.2_Silent_p.D63D|ABCA8_uc002jhs.2_Silent_p.D63D|ABCA8_uc002jht.2_Silent_p.D63D	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	63						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					CCCGTCCCAGGTCCATGGTAA	0.368												
ABCA9	10350	broad.mit.edu	37	17	66982353	66982353	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:66982353G>A	uc002jhu.2	-	32	4303	c.4160C>T	c.(4159-4161)GCT>GTT	p.A1387V	ABCA9_uc010dez.2_Missense_Mutation_p.A1349V	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	1387	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					TTTCACGGCAGCGTACACCTC	0.612												
ABCA9	10350	broad.mit.edu	37	17	67016664	67016664	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:67016664A>G	uc002jhu.2	-	19	2608	c.2465T>C	c.(2464-2466)CTG>CCG	p.L822P	ABCA9_uc010dez.2_Missense_Mutation_p.L822P	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	822					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					AACTTGTTCCAGCTCAACAAG	0.408												
ABCA9	10350	broad.mit.edu	37	17	67039677	67039677	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:67039677G>A	uc002jhu.2	-	6	896	c.753C>T	c.(751-753)TAC>TAT	p.Y251Y	ABCA9_uc010dez.2_Silent_p.Y251Y|ABCA9_uc002jhv.2_Silent_p.Y251Y	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	251					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					ATGACGTAATGTATTGTCTTT	0.323												
ABCA6	23460	broad.mit.edu	37	17	67110969	67110969	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:67110969G>A	uc002jhw.1	-	13	1891	c.1716C>T	c.(1714-1716)ACC>ACT	p.T572T	ABCA6_uc002jhx.1_Silent_p.T25T	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	572	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)					TTTCCTTCACGGTGAGTATGT	0.403												
CDC42EP4	23580	broad.mit.edu	37	17	71282053	71282053	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:71282053G>T	uc002jjn.2	-	2	734	c.587C>A	c.(586-588)GCC>GAC	p.A196D	CDC42EP4_uc002jjo.2_Missense_Mutation_p.A196D|CDC42EP4_uc002jjp.1_Missense_Mutation_p.A126D	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Cdc42 effector protein 4	196					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding				0			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CCCGTACGTGGCCTTGGGCAC	0.632												
MRPS7	51081	broad.mit.edu	37	17	73259534	73259534	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:73259534C>A	uc002jnm.3	+	4	686	c.453C>A	c.(451-453)AAC>AAA	p.N151K	GGA3_uc002jni.1_5'Flank|GGA3_uc002jnj.1_5'Flank|GGA3_uc010wrw.1_5'Flank|GGA3_uc002jnk.1_5'Flank|GGA3_uc010wrx.1_5'Flank|GGA3_uc010wry.1_5'Flank|GGA3_uc010wrz.1_5'Flank|MRPS7_uc002jnl.2_Missense_Mutation_p.N151K|MRPS7_uc002jnn.3_Missense_Mutation_p.N180K	NM_015971	NP_057055	Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7 precursor	151					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)	1	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CACTGAAAAACTGTGAGCCTA	0.517												
QRICH2	84074	broad.mit.edu	37	17	74288203	74288203	+	Missense_Mutation	SNP	G	G	A	rs148029652		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:74288203G>A	uc002jrd.1	-	4	2287	c.2107C>T	c.(2107-2109)CGT>TGT	p.R703C	QRICH2_uc010wsz.1_Missense_Mutation_p.R629C|QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	703	Gln-rich.						protein binding			ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						accaaaccacgctgatccact	0												
RHBDF2	79651	broad.mit.edu	37	17	74470845	74470845	+	Silent	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:74470845G>T	uc002jrq.1	-	11	1649	c.1356C>A	c.(1354-1356)ATC>ATA	p.I452I	RHBDF2_uc002jrp.1_Silent_p.I423I|RHBDF2_uc002jrr.1_Silent_p.I304I|RHBDF2_uc010wtf.1_Silent_p.I423I	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN	rhomboid, veinlet-like 6 isoform 1	452	Lumenal (Potential).				negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity				0						TCTCCTGCTGGATGTACTTCA	0.622												
CYGB	114757	broad.mit.edu	37	17	74527577	74527577	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:74527577C>T	uc002jru.1	-	2	498	c.340G>A	c.(340-342)GCC>ACC	p.A114T	CYGB_uc002jrv.1_Missense_Mutation_p.A49T|PRCD_uc002jrw.1_Intron	NM_134268	NP_599030	Q8WWM9	CYGB_HUMAN	cytoglobin	114	Globin.				response to oxidative stress	cytoplasm	heme binding|oxygen binding|oxygen transporter activity|peroxidase activity				0						TGCTTGAGGGCGTGGGCTTTC	0.642												
ENGASE	64772	broad.mit.edu	37	17	77082376	77082376	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:77082376G>T	uc002jwv.2	+	14	2185	c.2177G>T	c.(2176-2178)CGG>CTG	p.R726L	ENGASE_uc002jww.2_Missense_Mutation_p.R431L	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	726						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			skin(1)	1						GAAGGGTTCCGGGTACCTCAG	0.647												
CARD14	79092	broad.mit.edu	37	17	78176086	78176086	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:78176086C>T	uc002jxw.1	+	15	2281	c.2086C>T	c.(2086-2088)CAG>TAG	p.Q696*	CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Nonsense_Mutation_p.Q696*|CARD14_uc010wud.1_RNA	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	696					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGGGGAGCTGCAGGTGCATTG	0.617												
RNF213	57674	broad.mit.edu	37	17	78354648	78354648	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:78354648C>T	uc002jyh.1	+	31	8100	c.7877C>T	c.(7876-7878)ACG>ATG	p.T2626M	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.T1008M	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCAGACAGAACGCAGACCGGC	0.602												
RPTOR	57521	broad.mit.edu	37	17	78599546	78599546	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:78599546C>A	uc002jyt.1	+	2	1023	c.218C>A	c.(217-219)CCC>CAC	p.P73H	RPTOR_uc002jys.2_Missense_Mutation_p.P73H|RPTOR_uc010wuf.1_5'UTR|RPTOR_uc010wug.1_Missense_Mutation_p.P73H	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	73					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6						GTGGACCCTCCCGATGTGGTG	0.498												
GPS1	2873	broad.mit.edu	37	17	80011774	80011774	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:80011774G>A	uc002kdl.1	+	3	202	c.157G>A	c.(157-159)GGC>AGC	p.G53S	RFNG_uc002kdj.2_5'Flank|GPS1_uc002kdk.1_Missense_Mutation_p.G93S|GPS1_uc010dij.1_Missense_Mutation_p.G93S|GPS1_uc002kdm.1_Missense_Mutation_p.G37S|GPS1_uc002kdn.1_Missense_Mutation_p.G53S|GPS1_uc002kdo.1_Missense_Mutation_p.G53S|GPS1_uc010wvh.1_Missense_Mutation_p.G45S	NM_004127	NP_004118	Q13098	CSN1_HUMAN	G protein pathway suppressor 1 isoform 2	53					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CAGCTACAGCGGCCTGATGCG	0.632												
DUS1L	64118	broad.mit.edu	37	17	80019841	80019841	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:80019841G>A	uc002kdq.2	-	5	948	c.529C>T	c.(529-531)CGC>TGC	p.R177C	DUS1L_uc002kdp.2_Missense_Mutation_p.R46C|DUS1L_uc002kdr.2_Missense_Mutation_p.R177C|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA|DUS1L_uc010wvi.1_Missense_Mutation_p.R160C	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	PP3111 protein	177					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			skin(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TCCTTGGTGCGTCCGTGCACC	0.448												
ZNF750	79755	broad.mit.edu	37	17	80788993	80788993	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:80788993G>A	uc002kga.2	-	2	1649	c.1338C>T	c.(1336-1338)TAC>TAT	p.Y446Y	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	446						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCTCTGGCGGGTAGAGTCTTC	0.597												
C18orf1	753	broad.mit.edu	37	18	13621228	13621228	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:13621228C>T	uc002ksa.2	+	5	962	c.294C>T	c.(292-294)AAC>AAT	p.N98N	C18orf1_uc002ksb.2_Silent_p.N98N|C18orf1_uc002kse.2_Silent_p.N61N|C18orf1_uc002ksf.2_Silent_p.N61N|C18orf1_uc002ksg.1_Silent_p.N21N|C18orf1_uc002ksh.1_Silent_p.N40N|C18orf1_uc002ksi.1_Silent_p.N40N	NM_181481	NP_852146	O15165	CR001_HUMAN	hypothetical protein LOC753 isoform alpha 1	98	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3				READ - Rectum adenocarcinoma(73;0.0642)		CCTTCATCAACCGCCCGAACC	0.632												
LAMA3	3909	broad.mit.edu	37	18	21495282	21495282	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:21495282C>T	uc002kuq.2	+	59	7760	c.7674C>T	c.(7672-7674)TAC>TAT	p.Y2558Y	LAMA3_uc002kur.2_Silent_p.Y2502Y|LAMA3_uc002kus.3_Silent_p.Y949Y|LAMA3_uc002kut.3_Silent_p.Y893Y	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	2558	Laminin G-like 1.				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)	TCCCTCCATACAAAGGTTGTA	0.338												
DSG3	1830	broad.mit.edu	37	18	29038474	29038474	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:29038474C>T	uc002kws.2	+	4	392	c.283C>T	c.(283-285)CCG>TCG	p.P95S		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	95	Extracellular (Potential).|Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AATCGATCAGCCGCCTTTTGG	0.443												
ASXL3	80816	broad.mit.edu	37	18	31323494	31323494	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:31323494C>T	uc010dmg.1	+	12	3737	c.3682C>T	c.(3682-3684)CCC>TCC	p.P1228S	ASXL3_uc002kxq.2_Missense_Mutation_p.P935S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1228	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						TAGCAGTGTGCCCATGCTTTT	0.373												
ASXL3	80816	broad.mit.edu	37	18	31325001	31325001	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:31325001T>A	uc010dmg.1	+	12	5244	c.5189T>A	c.(5188-5190)GTC>GAC	p.V1730D	ASXL3_uc002kxq.2_Missense_Mutation_p.V1437D	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1730					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						CTGAAGAGAGTCCCTGGTGCA	0.532												
ASXL3	80816	broad.mit.edu	37	18	31326157	31326157	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:31326157C>T	uc010dmg.1	+	12	6400	c.6345C>T	c.(6343-6345)TTC>TTT	p.F2115F	ASXL3_uc002kxq.2_Silent_p.F1822F	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	2115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						TAAAAGCATTCGCGCTAAAAA	0.413												
FHOD3	80206	broad.mit.edu	37	18	34261513	34261513	+	Silent	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:34261513G>T	uc002kzt.1	+	12	1522	c.1425G>T	c.(1423-1425)CGG>CGT	p.R475R	FHOD3_uc002kzr.1_Silent_p.R475R|FHOD3_uc002kzs.1_Silent_p.R475R|FHOD3_uc010dmz.1_Silent_p.R190R	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	475	Potential.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GAATAGAGCGGGAAGAAAGAA	0.403												
BCL2	596	broad.mit.edu	37	18	60985789	60985789	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:60985789G>A	uc002lit.1	-	2	604	c.111C>T	c.(109-111)GCC>GCT	p.A37A	BCL2_uc002liu.1_Silent_p.A37A|BCL2_uc002liv.1_Silent_p.A37A	NM_000633	NP_000624	P10415	BCL2_HUMAN	B-cell lymphoma protein 2 alpha isoform	37					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)	1		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	ccgggggcgcggcgcccACAT	0.527			T	IGH@	NHL|CLL							
RTTN	25914	broad.mit.edu	37	18	67776813	67776813	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:67776813G>A	uc002lkp.2	-	28	3892	c.3824C>T	c.(3823-3825)GCG>GTG	p.A1275V	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.A363V	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	1275							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				TCCCGGAAACGCAGTGAGGTT	0.507												
ZNF407	55628	broad.mit.edu	37	18	72343485	72343485	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:72343485G>A	uc002llw.2	+	1	567	c.510G>A	c.(508-510)CCG>CCA	p.P170P	ZNF407_uc010xfc.1_Silent_p.P170P|ZNF407_uc010dqu.1_Silent_p.P170P|ZNF407_uc002llu.2_Silent_p.P169P	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CTTTCCCCCCGAAAGAAATTA	0.393												
ZNF236	7776	broad.mit.edu	37	18	74583706	74583706	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:74583706A>G	uc002lmi.2	+	5	784	c.586A>G	c.(586-588)ACG>GCG	p.T196A	ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Missense_Mutation_p.T196A	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	196					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)		AAGTGGATTCACGTATTCGTG	0.438												
GALR1	2587	broad.mit.edu	37	18	74980856	74980856	+	Nonstop_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:74980856T>C	uc002lms.3	+	3	1545	c.1048T>C	c.(1048-1050)TGA>CGA	p.*350R		NM_001480	NP_001471	P47211	GALR1_HUMAN	galanin receptor 1	350					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			lung(1)	1		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TACTCATGTGTGATAAAAGAT	0.388												
PTBP1	5725	broad.mit.edu	37	19	810550	810550	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:810550G>A	uc002lpr.2	+	13	1499	c.1393G>A	c.(1393-1395)GTC>ATC	p.V465I	PTBP1_uc002lpp.2_Missense_Mutation_p.V491I|PTBP1_uc002lpq.2_Missense_Mutation_p.V484I|PTBP1_uc002lps.2_Missense_Mutation_p.V131I|PTBP1_uc002lpt.2_RNA|PTBP1_uc002lpu.1_Missense_Mutation_p.V461I	NM_031991	NP_114368	P26599	PTBP1_HUMAN	polypyrimidine tract-binding protein 1 isoform	465	RRM 4.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			kidney(1)|skin(1)	2		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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)		CAGGCCCTCAGTCTCCGAGGA	0.612												
PRTN3	5657	broad.mit.edu	37	19	847857	847857	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:847857T>C	uc002lqa.1	+	5	683	c.659T>C	c.(658-660)GTG>GCG	p.V220A		NM_002777	NP_002768	P24158	PRTN3_HUMAN	myeloblastin	220	Peptidase S1.				collagen catabolic process|positive regulation of cell proliferation|proteolysis		protein binding|serine-type endopeptidase activity			ovary(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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)		GACTCCTTCGTGATCTGGGGA	0.617												
AP3D1	8943	broad.mit.edu	37	19	2102224	2102224	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:2102224G>A	uc002luz.2	-	30	3633	c.3410C>T	c.(3409-3411)ACG>ATG	p.T1137M	AP3D1_uc010dsv.2_Missense_Mutation_p.T227M|AP3D1_uc002luy.2_Missense_Mutation_p.T1096M|AP3D1_uc002lva.2_Missense_Mutation_p.T1199M	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	1137					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)		GCTCAGTAGCGTGGAGTCACT	0.507												
AP3D1	8943	broad.mit.edu	37	19	2138638	2138638	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:2138638C>T	uc002luz.2	-	2	395	c.172G>A	c.(172-174)GCG>ACG	p.A58T	AP3D1_uc002luy.2_Missense_Mutation_p.A58T|AP3D1_uc002lva.2_Missense_Mutation_p.A58T	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	58	HEAT 1.				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCAGACCGCGTTCGCCTTC	0.532												
UBXN6	80700	broad.mit.edu	37	19	4453928	4453928	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:4453928C>A	uc002man.1	-	2	342	c.246G>T	c.(244-246)CAG>CAT	p.Q82H	UBXN6_uc010dty.1_Missense_Mutation_p.Q29H|UBXN6_uc002mam.1_Missense_Mutation_p.Q29H	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	82						microtubule organizing center|nucleus	protein binding				0						ATATCTCACCCTGGTTTCGGA	0.662												
KDM4B	23030	broad.mit.edu	37	19	5047625	5047625	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:5047625G>A	uc002mbq.3	+	6	797	c.571G>A	c.(571-573)GAG>AAG	p.E191K	KDM4B_uc010xil.1_Missense_Mutation_p.E191K|KDM4B_uc010xim.1_Missense_Mutation_p.E191K	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	191	JmjC.	Iron; catalytic (By similarity).			chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1						CTGGCACACCGAGGACATGGA	0.632												
PTPRS	5802	broad.mit.edu	37	19	5219994	5219994	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:5219994G>A	uc002mbv.2	-	22	3955	c.3721C>T	c.(3721-3723)CGC>TGC	p.R1241C	PTPRS_uc002mbu.1_Missense_Mutation_p.R810C|PTPRS_uc010xin.1_Missense_Mutation_p.R810C|PTPRS_uc002mbw.2_Missense_Mutation_p.R1219C|PTPRS_uc002mbx.2_Missense_Mutation_p.R814C|PTPRS_uc002mby.2_Missense_Mutation_p.R810C	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1241	Extracellular (Potential).				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)		AGGACATAGCGGTGGCCGGGC	0.597												
ACSBG2	81616	broad.mit.edu	37	19	6183243	6183243	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:6183243C>T	uc002mef.1	+	10	1509	c.1282C>T	c.(1282-1284)CCC>TCC	p.P428S	ACSBG2_uc002mee.1_Missense_Mutation_p.P241S|ACSBG2_uc002meg.1_Missense_Mutation_p.P428S|ACSBG2_uc002meh.1_Missense_Mutation_p.P428S|ACSBG2_uc002mei.1_Missense_Mutation_p.P378S|ACSBG2_uc010xiz.1_Missense_Mutation_p.P428S	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	bubblegum-related acyl-CoA synthetase 2	428					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			ovary(1)	1						GAGCTCGGGACCCCACACGAT	0.552												
GPR108	56927	broad.mit.edu	37	19	6732509	6732509	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:6732509C>T	uc002mfp.2	-	11	1031	c.985G>A	c.(985-987)GTC>ATC	p.V329I	GPR108_uc010duv.2_5'Flank|GPR108_uc002mfn.2_5'UTR|GPR108_uc002mfo.3_Missense_Mutation_p.V87I|GPR108_uc010duw.2_RNA	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108 isoform 1	329						integral to membrane					0						TAGTACATGACGGCAAGGCCT	0.632												
VAV1	7409	broad.mit.edu	37	19	6821674	6821674	+	Silent	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:6821674C>A	uc002mfu.1	+	3	460	c.363C>A	c.(361-363)GCC>GCA	p.A121A	VAV1_uc010xjh.1_Silent_p.A121A|VAV1_uc010dva.1_Silent_p.A121A|VAV1_uc002mfv.1_Silent_p.A66A	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	121					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						CCCCGATCGCCCAGAACAGGG	0.637												
MUC16	94025	broad.mit.edu	37	19	9011368	9011368	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:9011368T>G	uc002mkp.2	-	36	39069	c.38865A>C	c.(38863-38865)AAA>AAC	p.K12955N	MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12957	SEA 6.|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						GGCCCAGCTCTTTGATGCCAT	0.547												
MUC16	94025	broad.mit.edu	37	19	9087335	9087335	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:9087335T>C	uc002mkp.2	-	1	4684	c.4480A>G	c.(4480-4482)ACA>GCA	p.T1494A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1494	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						TGAGAAGGTGTGGACATAGGT	0.428												
OR7D2	162998	broad.mit.edu	37	19	9296531	9296531	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:9296531C>T	uc002mkz.1	+	1	262	c.74C>T	c.(73-75)CCG>CTG	p.P25L		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D,	25	Extracellular (Potential).				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|upper_aerodigestive_tract(1)	3						GAACTACAGCCGTTCATATTT	0.498												
OLFM2	93145	broad.mit.edu	37	19	9965414	9965414	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:9965414G>A	uc002mmp.2	-	6	841	c.813C>T	c.(811-813)CAC>CAT	p.H271H	OLFM2_uc002mmo.2_Silent_p.H193H	NM_058164	NP_477512	O95897	NOE2_HUMAN	olfactomedin 2 precursor	271	Olfactomedin-like.					extracellular region				large_intestine(1)|skin(1)	2						TGTACACCACGTGGCCCGTGC	0.607												
ICAM1	3383	broad.mit.edu	37	19	10394931	10394931	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:10394931G>A	uc002mnq.2	+	4	1179	c.860G>A	c.(859-861)CGG>CAG	p.R287Q	ICAM1_uc010xle.1_Missense_Mutation_p.R65Q|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank	NM_000201	NP_000192	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1 precursor	287	Ig-like C2-type 3.|Extracellular (Potential).				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	GGCACCCAGCGGCTGACGTGT	0.607												
PDE4A	5141	broad.mit.edu	37	19	10568738	10568738	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:10568738G>A	uc002moj.2	+	8	1169	c.1061G>A	c.(1060-1062)CGA>CAA	p.R354Q	PDE4A_uc002mok.2_Missense_Mutation_p.R328Q|PDE4A_uc002mol.2_Missense_Mutation_p.R293Q|PDE4A_uc002mom.2_Missense_Mutation_p.R115Q|PDE4A_uc002mon.2_Intron|PDE4A_uc002moo.2_5'Flank	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	phosphodiesterase 4A isoform 1	354	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	AACATTCCCCGATTTGGGGTG	0.577												
SMARCA4	6597	broad.mit.edu	37	19	11143999	11143999	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:11143999G>A	uc002mqf.3	+	26	3864	c.3580G>A	c.(3580-3582)GGG>AGG	p.G1194R	SMARCA4_uc010dxp.2_Missense_Mutation_p.G1194R|SMARCA4_uc010dxo.2_Missense_Mutation_p.G1194R|SMARCA4_uc010dxq.2_Missense_Mutation_p.G1194R|SMARCA4_uc010dxr.2_Missense_Mutation_p.G1194R|SMARCA4_uc002mqj.3_Missense_Mutation_p.G1194R|SMARCA4_uc010dxs.2_Missense_Mutation_p.G1194R|SMARCA4_uc010dxt.1_Missense_Mutation_p.G414R|SMARCA4_uc002mqh.3_Missense_Mutation_p.G317R|SMARCA4_uc002mqi.1_Missense_Mutation_p.G397R	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1194	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity			lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCACCGCATCGGGCAGCAGAA	0.612			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome			
DOCK6	57572	broad.mit.edu	37	19	11312679	11312679	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:11312679C>T	uc002mqs.3	-	44	5615	c.5574G>A	c.(5572-5574)CCG>CCA	p.P1858P	DOCK6_uc002mqr.3_Silent_p.P258P|DOCK6_uc010xlq.1_Silent_p.P1197P	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1858	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CGCGCCCATCCGGCGTGAACG	0.592												
DOCK6	57572	broad.mit.edu	37	19	11312758	11312758	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:11312758T>C	uc002mqs.3	-	44	5536	c.5495A>G	c.(5494-5496)TAC>TGC	p.Y1832C	DOCK6_uc002mqr.3_Missense_Mutation_p.Y232C|DOCK6_uc010xlq.1_Missense_Mutation_p.Y1171C	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1832	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CTTGAGCTCGTAGGTATCAAA	0.612												
ZNF799	90576	broad.mit.edu	37	19	12501739	12501739	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:12501739A>G	uc010dyt.2	-	4	1623	c.1473T>C	c.(1471-1473)CTT>CTC	p.L491L	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	491	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						TATGTTGAGAAAGGTATTGGA	0.363												
CCDC105	126402	broad.mit.edu	37	19	15132473	15132473	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:15132473C>T	uc002nae.2	+	5	1186	c.1087C>T	c.(1087-1089)CGG>TGG	p.R363W		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	363					microtubule cytoskeleton organization	microtubule				ovary(1)	1						AACTATCCTCCGGTGTACGAA	0.587												
EPHX3	79852	broad.mit.edu	37	19	15342161	15342161	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:15342161C>T	uc002nap.2	-	3	585	c.376G>A	c.(376-378)GTT>ATT	p.V126I	EPHX3_uc002naq.2_Missense_Mutation_p.V126I	NM_024794	NP_079070	Q9H6B9	EPHX3_HUMAN	abhydrolase domain containing 9 precursor	126						extracellular region	hydrolase activity				0						ACAGCCACAACATGGAAGCGG	0.617												
WIZ	58525	broad.mit.edu	37	19	15538021	15538021	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:15538021G>A	uc002nbc.2	-	4	1398	c.1375C>T	c.(1375-1377)CCA>TCA	p.P459S	WIZ_uc002nba.3_Missense_Mutation_p.P326S|WIZ_uc002nbb.3_Missense_Mutation_p.P285S	NM_021241	NP_067064	O95785	WIZ_HUMAN	widely-interspaced zinc finger motifs	1142	Pro-rich.					nucleus	zinc ion binding				0						CCCGGTGGTGGTGGCAACTTC	0.652												
C19orf44	84167	broad.mit.edu	37	19	16612314	16612314	+	Silent	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:16612314C>A	uc002neh.1	+	2	784	c.711C>A	c.(709-711)GGC>GGA	p.G237G	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Silent_p.G237G|C19orf44_uc002neg.2_Silent_p.G237G|C19orf44_uc010eai.1_RNA	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	hypothetical protein LOC84167	237											0						CGAATCAAGGCTTCAGCAGCG	0.318												
SLC35E1	79939	broad.mit.edu	37	19	16677452	16677452	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:16677452C>T	uc010xph.1	-	4	665	c.647G>A	c.(646-648)CGG>CAG	p.R216Q	MED26_uc002nee.2_RNA|SLC35E1_uc002nem.1_Missense_Mutation_p.R216Q	NM_024881	NP_079157	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	216					transport	integral to membrane				ovary(1)|central_nervous_system(1)	2						ATGGTGGATCCGTGAATCTCG	0.542												
JAK3	3718	broad.mit.edu	37	19	17943458	17943458	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:17943458G>A	uc002nhn.3	-	19	2650	c.2550C>T	c.(2548-2550)GCC>GCT	p.A850A	JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Silent_p.A850A	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	850	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						CGGCCACCAGGGCACCTGTAT	0.592		2	Mis		acute megakaryocytic leukemia|							
KLHL26	55295	broad.mit.edu	37	19	18779089	18779089	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:18779089G>A	uc002njz.1	+	3	909	c.882G>A	c.(880-882)CAG>CAA	p.Q294Q		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	kelch-like 26	294										ovary(1)	1						CCTTCCGGCAGCACGAGATGC	0.662												
ARMC6	93436	broad.mit.edu	37	19	19165124	19165124	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:19165124C>T	uc002nld.2	+	6	1365	c.1017C>T	c.(1015-1017)GGC>GGT	p.G339G	ARMC6_uc002nlc.2_Silent_p.G314G|ARMC6_uc010xql.1_Silent_p.G246G|ARMC6_uc002nle.2_Silent_p.G314G|ARMC6_uc010xqm.1_Silent_p.G339G	NM_033415	NP_219483	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	339	ARM 3.						protein binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			ACCAGAGCGGCGTTCAGGTAT	0.612											OREG0025376	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GMIP	51291	broad.mit.edu	37	19	19747568	19747568	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:19747568G>A	uc002nnd.2	-	13	1392	c.1275C>T	c.(1273-1275)AGC>AGT	p.S425S	GMIP_uc010xrb.1_Silent_p.S425S|GMIP_uc010xrc.1_Silent_p.S422S	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	425					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						CGCCACCCACGCTGTCCACAT	0.637												
ZNF536	9745	broad.mit.edu	37	19	31039431	31039431	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:31039431G>A	uc002nsu.1	+	4	3043	c.2905G>A	c.(2905-2907)GAG>AAG	p.E969K	ZNF536_uc010edd.1_Missense_Mutation_p.E969K	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	969					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GAGGAAGTCCGAGAAATCTCA	0.592												
TSHZ3	57616	broad.mit.edu	37	19	31769889	31769889	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:31769889G>A	uc002nsy.3	-	2	875	c.810C>T	c.(808-810)GAC>GAT	p.D270D		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	270					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)					CCTTCTGGGCGTCTTCCTTCC	0.512												
GPATCH1	55094	broad.mit.edu	37	19	33621034	33621034	+	Splice_Site	SNP	A	A	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:33621034A>C	uc002nug.1	+	20	3080	c.2766_splice	c.e20-2	p.R922_splice	GPATCH1_uc002nuh.1_Splice_Site_p.R299_splice|WDR88_uc002nui.2_5'Flank	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1							catalytic step 2 spliceosome	nucleic acid binding			skin(1)	1	Esophageal squamous(110;0.137)					TTTCTTTTCCAGGCTGAAAAG	0.458												
LRP3	4037	broad.mit.edu	37	19	33697607	33697607	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:33697607G>A	uc010edh.2	+	6	1786	c.1693G>A	c.(1693-1695)GTG>ATG	p.V565M	LRP3_uc010xrp.1_3'UTR|LRP3_uc002nuk.3_Missense_Mutation_p.V439M	NM_002333	NP_002324	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein	565	Cytoplasmic (Potential).				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			pancreas(2)|ovary(1)	3	Esophageal squamous(110;0.137)					CATTCCACCCGTGGAGGACTT	0.677												
GRAMD1A	57655	broad.mit.edu	37	19	35514416	35514416	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:35514416C>T	uc010xse.1	+	19	2184	c.2047C>T	c.(2047-2049)CAG>TAG	p.Q683*	GRAMD1A_uc002nxk.2_Nonsense_Mutation_p.Q672*|GRAMD1A_uc002nxl.2_Nonsense_Mutation_p.Q445*|GRAMD1A_uc010xsf.1_Nonsense_Mutation_p.Q684*|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_Nonsense_Mutation_p.Q294*	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	683						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)			CAAGTGGAGGCAGATCCTGCG	0.667												
KRTDAP	388533	broad.mit.edu	37	19	35981334	35981334	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:35981334G>A	uc002nzh.2	-	1	23	c.11C>T	c.(10-12)CCG>CTG	p.P4L		NM_207392	NP_997275	P60985	KTDAP_HUMAN	keratinocyte differentiation-associated protein	4					cell differentiation	extracellular region					0	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AGGAAGGACCGGGATCTTCAT	0.597												
PRODH2	58510	broad.mit.edu	37	19	36290978	36290978	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:36290978G>A	uc002obx.1	-	11	1591	c.1573C>T	c.(1573-1575)CGG>TGG	p.R525W	uc002obw.1_5'Flank	NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	kidney and liver proline oxidase 1	525					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	p.R525W(1)		ovary(2)	2	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCAGCCGCCGCCACAGTTCT	0.617												
ZNF527	84503	broad.mit.edu	37	19	37879513	37879513	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:37879513C>T	uc010efk.1	+	5	673	c.562C>T	c.(562-564)CAG>TAG	p.Q188*	ZNF527_uc002ogf.3_Nonsense_Mutation_p.Q156*|ZNF527_uc010xtq.1_RNA	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	zinc finger protein 527	188					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)			TCCTACCATACAGCAAGTACA	0.338												
SIPA1L3	23094	broad.mit.edu	37	19	38673271	38673271	+	Missense_Mutation	SNP	G	G	A	rs139858184	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:38673271G>A	uc002ohk.2	+	16	4830	c.4321G>A	c.(4321-4323)GTC>ATC	p.V1441I		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	1441					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTCCGCCTCCGTCCCCAAGTC	0.622												
RYR1	6261	broad.mit.edu	37	19	38959976	38959976	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:38959976C>T	uc002oit.2	+	27	3718	c.3588C>T	c.(3586-3588)GGC>GGT	p.G1196G	RYR1_uc002oiu.2_Silent_p.G1196G	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1196	6 X approximate repeats.|Cytoplasmic.|B30.2/SPRY 2.				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)	TGGGACCTGGCCAGGTGGGTC	0.408												
RYR1	6261	broad.mit.edu	37	19	38976392	38976392	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:38976392C>T	uc002oit.2	+	34	5227	c.5097C>T	c.(5095-5097)GAC>GAT	p.D1699D	RYR1_uc002oiu.2_Silent_p.D1699D	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1699	Cytoplasmic.|6 X approximate repeats.				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)	CCCTGGAGGACGCGCACCTGC	0.657												
RYR1	6261	broad.mit.edu	37	19	38993326	38993326	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:38993326G>A	uc002oit.2	+	48	7924	c.7794G>A	c.(7792-7794)GCG>GCA	p.A2598A	RYR1_uc002oiu.2_Silent_p.A2598A|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2598	Cytoplasmic.|6 X approximate repeats.				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)	TCACCAAGGCGCAGCGTGACG	0.512												
SPTBN4	57731	broad.mit.edu	37	19	40996007	40996007	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:40996007G>A	uc002ony.2	+	4	433	c.347G>A	c.(346-348)CGG>CAG	p.R116Q	SPTBN4_uc002onx.2_Missense_Mutation_p.R116Q|SPTBN4_uc002onz.2_Missense_Mutation_p.R116Q	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	116	CH 1.|Actin-binding.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCCGCATGCGGATCCACTCA	0.662												
CEACAM7	1087	broad.mit.edu	37	19	42190985	42190985	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:42190985G>A	uc002ori.1	-	2	234	c.232C>T	c.(232-234)CGA>TGA	p.R78*	CEACAM7_uc010ehx.2_Nonsense_Mutation_p.R78*|CEACAM7_uc010ehy.1_Nonsense_Mutation_p.R78*	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion	78	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane				ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CCTATAATTCGATAGTTGGCA	0.458												
CIC	23152	broad.mit.edu	37	19	42797150	42797150	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:42797150G>A	uc002otf.1	+	15	3552	c.3512G>A	c.(3511-3513)CGG>CAG	p.R1171Q		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	1171	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				AAGGCCCAGCGGCCCAGCCCG	0.652			T	DUX4	soft tissue sarcoma							
LIPE	3991	broad.mit.edu	37	19	42909697	42909697	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:42909697G>A	uc002otr.2	-	8	2659	c.2382C>T	c.(2380-2382)GAC>GAT	p.D794D	uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	hormone-sensitive lipase	794					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			ovary(1)|breast(1)	2		Prostate(69;0.00682)				AGTTGGAGTGGTCCTCCGTCT	0.587												
BCAM	4059	broad.mit.edu	37	19	45315631	45315631	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:45315631C>T	uc002ozu.2	+	3	460	c.416C>T	c.(415-417)GCG>GTG	p.A139V	BCAM_uc002ozt.1_Missense_Mutation_p.A139V	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	139	Extracellular (Potential).|Ig-like V-type 1.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GAGGCCACTGCGCGGCTCAAC	0.682												
BCAM	4059	broad.mit.edu	37	19	45321843	45321843	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:45321843C>T	uc002ozu.2	+	9	1187	c.1143C>T	c.(1141-1143)GTC>GTT	p.V381V	BCAM_uc002ozt.1_Silent_p.V381V	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	381	Extracellular (Potential).|Ig-like C2-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GCAGTGCAGTCGTGAACTGCT	0.647												
PNMAL1	55228	broad.mit.edu	37	19	46974273	46974273	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:46974273A>G	uc002peq.3	-	2	326	c.20T>C	c.(19-21)ATG>ACG	p.M7T	PNMAL1_uc002per.3_Missense_Mutation_p.M7T	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	PNMA-like 1 isoform a	7											0		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		cagaaggttcatcgccatggt	0												
PRR12	57479	broad.mit.edu	37	19	50118249	50118249	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:50118249G>A	uc002poo.3	+	8	5007	c.5007G>A	c.(5005-5007)CGG>CGA	p.R1669R		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	848	Pro-rich.						DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCTGGCATCGGCCCCCAGTGC	0.517												
PRR12	57479	broad.mit.edu	37	19	50123625	50123625	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:50123625G>A	uc002poo.3	+	10	5514	c.5514G>A	c.(5512-5514)GGG>GGA	p.G1838G		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	1017							DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CAGTACCTGGGCGTCTGCTCA	0.458												
PRR12	57479	broad.mit.edu	37	19	50124783	50124783	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:50124783C>T	uc002poo.3	+	11	5625	c.5625C>T	c.(5623-5625)GAC>GAT	p.D1875D		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	1054							DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GTCCATCAGACGAGCTGTACC	0.512												
VRK3	51231	broad.mit.edu	37	19	50482461	50482461	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:50482461T>C	uc002prg.2	-	14	1413	c.1315A>G	c.(1315-1317)ACG>GCG	p.T439A	VRK3_uc002prh.1_Missense_Mutation_p.T439A|VRK3_uc002pri.1_Missense_Mutation_p.T389A|VRK3_uc010ens.2_Missense_Mutation_p.T439A|VRK3_uc010ybl.1_Missense_Mutation_p.T389A|VRK3_uc010ybm.1_Missense_Mutation_p.T208A	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	vaccinia related kinase 3 isoform 1	439	Protein kinase.					nucleus	ATP binding|protein kinase activity			stomach(1)|skin(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TCCTCATACGTGAGGGCCATC	0.582												
MYH14	79784	broad.mit.edu	37	19	50726368	50726368	+	Splice_Site	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:50726368G>A	uc002prr.1	+	4	637	c.590_splice	c.e4+1	p.T197_splice	MYH14_uc010enu.1_Splice_Site_p.T197_splice|MYH14_uc002prq.1_Splice_Site_p.T197_splice	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2						axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TTCTCTGCACGTGAGTAATCT	0.572												
NAPSA	9476	broad.mit.edu	37	19	50864954	50864954	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:50864954C>T	uc002prx.2	-	4	487	c.434G>A	c.(433-435)CGG>CAG	p.R145Q	NR1H2_uc002prv.3_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	napsin A preproprotein	145					proteolysis	extracellular region	aspartic-type endopeptidase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TCCATCTACCCGCCCAGTTCC	0.517												
SPIB	6689	broad.mit.edu	37	19	50926203	50926203	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:50926203A>G	uc002psd.2	+	4	273	c.248A>G	c.(247-249)TAC>TGC	p.Y83C	SPIB_uc002pse.2_Missense_Mutation_p.Y83C|SPIB_uc010ycc.1_Intron	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	83					regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			lung(1)|kidney(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CCCCCCACCTACAGCCCTGCA	0.682												
LIM2	3982	broad.mit.edu	37	19	51883795	51883795	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:51883795G>T	uc002pwm.2	-	4	468	c.424C>A	c.(424-426)CTG>ATG	p.L142M	LIM2_uc002pwl.2_Missense_Mutation_p.L184M	NM_001161748	NP_001155220	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa isoform	142	Helical; (Potential).				cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens				0		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		ACCCAGCCCAGGATGTAGGAC	0.612												
FPR3	2359	broad.mit.edu	37	19	52328045	52328045	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:52328045G>A	uc002pxt.1	+	2	1228	c.1044G>A	c.(1042-1044)ACG>ACA	p.T348T		NM_002030	NP_002021	P25089	FPR3_HUMAN	formyl peptide receptor-like 2	348	Cytoplasmic (Potential).				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.T348M(1)		lung(4)|breast(1)|skin(1)	6						CTGAGGAGACGGAGTTACAAG	0.458												
ZNF350	59348	broad.mit.edu	37	19	52471832	52471832	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:52471832T>C	uc002pyd.2	-	4	465	c.237A>G	c.(235-237)TCA>TCG	p.S79S	uc002pyb.2_Intron|uc002pyc.2_Intron	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	79	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(1)	1		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		TTCTCTCACCTGAACAGGCTC	0.478												
PPP2R1A	5518	broad.mit.edu	37	19	52719049	52719049	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:52719049G>A	uc002pyp.2	+	7	984	c.825G>A	c.(823-825)GGG>GGA	p.G275G	PPP2R1A_uc010ydk.1_Silent_p.G220G|PPP2R1A_uc010epm.1_Silent_p.G315G|PPP2R1A_uc002pyq.2_Silent_p.G96G	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	275	HEAT 7.|PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		AAGCAGTGGGGCCTGAGATCA	0.483			Mis		clear cell ovarian carcinoma							
ZNF331	55422	broad.mit.edu	37	19	54080491	54080491	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:54080491G>A	uc002qbx.1	+	7	2111	c.677G>A	c.(676-678)CGT>CAT	p.R226H	ZNF331_uc002qby.1_Missense_Mutation_p.R226H|ZNF331_uc002qbz.1_Missense_Mutation_p.R226H|ZNF331_uc002qca.1_Missense_Mutation_p.R226H|ZNF331_uc010eqr.1_Missense_Mutation_p.R226H|ZNF331_uc002qcb.1_Missense_Mutation_p.R226H|ZNF331_uc002qcc.1_Missense_Mutation_p.R226H|ZNF331_uc002qcd.1_Missense_Mutation_p.R226H	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	226	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)	6				GBM - Glioblastoma multiforme(134;0.00555)		GCCTTTCGGCGTGGTGATGAG	0.463			T	?	follicular thyroid adenoma							
VSTM1	284415	broad.mit.edu	37	19	54567029	54567029	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:54567029C>T	uc002qcw.3	-	1	179	c.3G>A	c.(1-3)ATG>ATA	p.M1I	VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Missense_Mutation_p.M1I	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	1						integral to membrane					0	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		ATTCTGCGGTCATAGCGTCCC	0.622												
LILRB4	11006	broad.mit.edu	37	19	55177749	55177749	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:55177749C>T	uc002qgp.2	+	8	1295	c.933C>T	c.(931-933)GAC>GAT	p.D311D	LILRB4_uc002qgq.2_Silent_p.D311D|LILRB4_uc002qgr.2_Silent_p.D352D|LILRB4_uc010ert.2_Silent_p.D352D|LILRB4_uc010eru.2_Silent_p.D340D	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor,	311	Cytoplasmic (Potential).					integral to membrane|plasma membrane	antigen binding|receptor activity			ovary(3)	3				GBM - Glioblastoma multiforme(193;0.035)		AGCCCAAGGACGGGGGCCTAC	0.602												
NLRP2	55655	broad.mit.edu	37	19	55481397	55481397	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:55481397C>T	uc002qij.2	+	2	100	c.14C>T	c.(13-15)GCG>GTG	p.A5V	NLRP2_uc010yfp.1_Missense_Mutation_p.A5V|NLRP2_uc010esn.2_Missense_Mutation_p.A5V|NLRP2_uc010eso.2_Missense_Mutation_p.A5V|NLRP2_uc010esp.2_Missense_Mutation_p.A5V	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	5	DAPIN.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTGTCTTCGGCGCAGATGGGC	0.547												
ZNF835	90485	broad.mit.edu	37	19	57176390	57176390	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:57176390T>C	uc010ygo.1	-	2	243	c.243A>G	c.(241-243)CGA>CGG	p.R81R	ZNF835_uc010ygn.1_Silent_p.R59R	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						TTCTTGGGATTCGGCTGAATT	0.622												
ZIM2	23619	broad.mit.edu	37	19	57286130	57286130	+	Missense_Mutation	SNP	C	C	T	rs138640675		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:57286130C>T	uc002qnr.2	-	11	1892	c.1510G>A	c.(1510-1512)GGC>AGC	p.G504S	uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Missense_Mutation_p.G300S|ZIM2_uc010ygr.1_Missense_Mutation_p.G300S|ZIM2_uc002qnq.2_Missense_Mutation_p.G504S|ZIM2_uc010etp.2_Missense_Mutation_p.G504S|ZIM2_uc010ygs.1_Missense_Mutation_p.G504S	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	504	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		GAGGGTCGGCCGAAACATTTC	0.443												
ZNF543	125919	broad.mit.edu	37	19	57839233	57839233	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:57839233T>C	uc002qoi.1	+	4	748	c.403T>C	c.(403-405)TTG>CTG	p.L135L		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGAAGTCCACTTGAAAATAGG	0.478												
ZNF749	388567	broad.mit.edu	37	19	57956447	57956447	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:57956447A>G	uc002qoq.2	+	3	2185	c.1931A>G	c.(1930-1932)GAA>GGA	p.E644G	ZNF547_uc002qpm.3_Intron	NM_001023561	NP_001018855	O43361	ZN749_HUMAN	zinc finger protein 749	644	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GAGTGTAGTGAATGTGGGAAA	0.373												
ZNF772	400720	broad.mit.edu	37	19	57985255	57985255	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:57985255C>A	uc002qot.2	-	5	1118	c.857G>T	c.(856-858)AGA>ATA	p.R286I	ZNF547_uc002qpm.3_Intron|ZNF772_uc010ygy.1_Missense_Mutation_p.R245I|ZNF772_uc010ygz.1_Missense_Mutation_p.R174I|ZNF772_uc010yha.1_Missense_Mutation_p.R232I|ZNF772_uc002qou.2_Missense_Mutation_p.R174I	NM_001024596	NP_001019767	Q68DY9	ZN772_HUMAN	zinc finger protein 772 isoform 1	286	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		AGTGTGGACTCTCTGGTGTTG	0.488												
ZNF552	79818	broad.mit.edu	37	19	58319993	58319993	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:58319993G>T	uc002qqg.2	-	3	809	c.639C>A	c.(637-639)AGC>AGA	p.S213R	ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.1_Missense_Mutation_p.S209R	NM_024762	NP_079038	Q9H707	ZN552_HUMAN	zinc finger protein 552	213	C2H2-type 3; degenerate.				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)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		ATCCTCCACAGCTGTAATGGC	0.473												
ZNF606	80095	broad.mit.edu	37	19	58490096	58490096	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:58490096G>A	uc002qqw.2	-	7	2570	c.1952C>T	c.(1951-1953)CCC>CTC	p.P651L	ZNF606_uc010yhp.1_Missense_Mutation_p.P561L	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GCATTCATAGGGTTTTTCTCC	0.398												
ZSCAN1	284312	broad.mit.edu	37	19	58564966	58564966	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:58564966C>T	uc002qrc.1	+	6	1021	c.774C>T	c.(772-774)AGC>AGT	p.S258S		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	258					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CTGACCAGAGCGGCCGCCACC	0.632												
ZNF274	10782	broad.mit.edu	37	19	58724502	58724502	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:58724502C>T	uc002qrq.1	+	10	2414	c.1955C>T	c.(1954-1956)ACC>ATC	p.T652I	ZNF274_uc002qrr.1_Missense_Mutation_p.T620I|ZNF274_uc002qrs.1_Missense_Mutation_p.T547I|ZNF274_uc010eum.1_Missense_Mutation_p.T411I	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	zinc finger protein 274 isoform c	652					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		AAACAGCCTACCTCATAGCTC	0.463												
ZBTB45	84878	broad.mit.edu	37	19	59028801	59028801	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:59028801C>T	uc002qtd.2	-	2	532	c.240G>A	c.(238-240)GTG>GTA	p.V80V	ZBTB45_uc002qte.2_Silent_p.V80V|ZBTB45_uc002qtf.2_Silent_p.V80V	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	80	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CCAGCTGTCGCACTGTCTGCG	0.647											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CPSF3	51692	broad.mit.edu	37	2	9611523	9611523	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:9611523C>T	uc002qzo.1	+	17	1943	c.1908C>T	c.(1906-1908)AGC>AGT	p.S636S	CPSF3_uc002qzp.1_Silent_p.S599S|CPSF3_uc002qzq.1_Silent_p.S213S	NM_016207	NP_057291	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3,	636					histone mRNA 3'-end processing|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|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			breast(2)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		CTATTCTTAGCGTCACAGTGG	0.418												
NOL10	79954	broad.mit.edu	37	2	10729712	10729712	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:10729712G>A	uc002raq.2	-	18	1713	c.1588C>T	c.(1588-1590)CGT>TGT	p.R530C	NOL10_uc010yje.1_Missense_Mutation_p.R504C|NOL10_uc010yjf.1_Missense_Mutation_p.R480C|NOL10_uc002rap.2_Missense_Mutation_p.R480C	NM_024894	NP_079170	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	530	Potential.					nucleolus					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		ACTTTTTCACGAAGTTCTTGT	0.308												
GREB1	9687	broad.mit.edu	37	2	11758537	11758537	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:11758537C>T	uc002rbk.1	+	22	3836	c.3536C>T	c.(3535-3537)CCC>CTC	p.P1179L	GREB1_uc002rbp.1_Missense_Mutation_p.P177L	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1179	Ser-rich.					integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AAACAGAGGCCCCGGGCAAGT	0.721												
GREB1	9687	broad.mit.edu	37	2	11773069	11773069	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:11773069G>A	uc002rbk.1	+	28	5171	c.4871G>A	c.(4870-4872)CGG>CAG	p.R1624Q	GREB1_uc002rbp.1_Missense_Mutation_p.R622Q	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1624						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GAGCTCGAGCGGAACCGGCAG	0.562												
NBAS	51594	broad.mit.edu	37	2	15614225	15614225	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:15614225C>T	uc002rcc.1	-	15	1591	c.1565G>A	c.(1564-1566)CGC>CAC	p.R522H	NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	522										ovary(2)|liver(1)|skin(1)	4						TGTCGTGGAGCGCAAACTCAC	0.433												
NBAS	51594	broad.mit.edu	37	2	15614424	15614424	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:15614424G>A	uc002rcc.1	-	15	1392	c.1366C>T	c.(1366-1368)CGA>TGA	p.R456*	NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	456										ovary(2)|liver(1)|skin(1)	4						AAACGAGATCGTTTGGGGGCA	0.333												
NT5C1B	93034	broad.mit.edu	37	2	18765854	18765854	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:18765854C>T	uc002rcz.2	-	5	933	c.829G>A	c.(829-831)GAC>AAC	p.D277N	NT5C1B_uc002rcy.2_Missense_Mutation_p.D277N|NT5C1B_uc010exr.2_Missense_Mutation_p.D219N|NT5C1B_uc010yju.1_Missense_Mutation_p.D217N|NT5C1B_uc002rda.2_Missense_Mutation_p.D217N|NT5C1B_uc010yjv.1_Missense_Mutation_p.D294N|NT5C1B_uc010yjw.1_Missense_Mutation_p.D260N|NT5C1B_uc010exs.2_Missense_Mutation_p.D279N|NT5C1B_uc002rdb.1_Missense_Mutation_p.D69N	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN	5' nucleotidase, cytosolic IB isoform 1	277					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			skin(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GCCTCGTAGTCGTCCTCGTCC	0.682												
NCOA1	8648	broad.mit.edu	37	2	24927973	24927973	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:24927973C>T	uc002rfk.2	+	10	1226	c.968C>T	c.(967-969)GCC>GTC	p.A323V	NCOA1_uc010eye.2_Missense_Mutation_p.A323V|NCOA1_uc002rfi.2_Missense_Mutation_p.A172V|NCOA1_uc002rfj.2_Missense_Mutation_p.A323V|NCOA1_uc002rfl.2_Missense_Mutation_p.A323V	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	323									PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTGGCACTGCCTCCAGCCCC	0.423			T	PAX3	alveolar rhadomyosarcoma							
ASXL2	55252	broad.mit.edu	37	2	25966041	25966041	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:25966041G>A	uc002rgs.2	-	12	3386	c.3165C>T	c.(3163-3165)CAC>CAT	p.H1055H	ASXL2_uc002rgt.1_Intron	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	1055					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTAGTCCTTCGTGGTATTGGT	0.507												
KIF3C	3797	broad.mit.edu	37	2	26203385	26203385	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:26203385G>A	uc002rgu.2	-	1	2059	c.1402C>T	c.(1402-1404)CTG>TTG	p.L468L	KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Silent_p.L468L	NM_002254	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	468	Potential.				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)					TCCTCCTCCAGCCGCTCCTTC	0.592												
GTF3C2	2976	broad.mit.edu	37	2	27566374	27566374	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:27566374G>A	uc002rjv.1	-	3	411	c.48C>T	c.(46-48)CCC>CCT	p.P16P	GTF3C2_uc002rju.1_Silent_p.P27P|GTF3C2_uc002rjw.1_Silent_p.P16P|GTF3C2_uc010eyz.1_Silent_p.P16P	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide	16						transcription factor TFIIIC complex				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTTCCCCACGGGGCCGGCCT	0.557												
PPM1G	5496	broad.mit.edu	37	2	27607889	27607889	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:27607889C>T	uc002rkl.2	-	6	583	c.476G>A	c.(475-477)CGC>CAC	p.R159H	PPM1G_uc002rkm.2_Missense_Mutation_p.R9H	NM_002707	NP_002698	O15355	PPM1G_HUMAN	protein phosphatase 1G	159					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					CTGCCCGTAGCGTGTCAGCAG	0.592												
FAM98A	25940	broad.mit.edu	37	2	33810305	33810305	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:33810305G>A	uc002rpa.1	-	8	1169	c.1095C>T	c.(1093-1095)GGC>GGT	p.G365G	FAM98A_uc010yne.1_Silent_p.G170G|FAM98A_uc010ynd.1_Silent_p.G196G|FAM98A_uc002roz.1_Silent_p.G203G	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	hypothetical protein LOC25940	366	Gly-rich.									ovary(1)	1	all_hematologic(175;0.115)					CATGGTCATAGCCACCACGTC	0.577												
CRIM1	51232	broad.mit.edu	37	2	36749338	36749338	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:36749338C>T	uc002rpd.2	+	13	2349	c.2310C>T	c.(2308-2310)GAC>GAT	p.D770D		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	770	Extracellular (Potential).|VWFC 5.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GGAAGCCTGACGTTTGTACCA	0.468												
FSHR	2492	broad.mit.edu	37	2	49190038	49190038	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:49190038A>G	uc002rww.2	-	10	1996	c.1922T>C	c.(1921-1923)CTG>CCG	p.L641P	FSHR_uc002rwx.2_Missense_Mutation_p.L579P|FSHR_uc010fbn.2_Missense_Mutation_p.L615P	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	641	Cytoplasmic (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	ACACTTGCTCAGCAGAATGAA	0.458									Gonadal_Dysgenesis_46_XX			
USP34	9736	broad.mit.edu	37	2	61415812	61415812	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:61415812G>A	uc002sbe.2	-	80	10088	c.10066C>T	c.(10066-10068)CGT>TGT	p.R3356C	USP34_uc002sbd.2_Missense_Mutation_p.R158C	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	3356					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R3356P(1)		ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			CTGCTAACACGCCGCCTTTTA	0.478												
USP34	9736	broad.mit.edu	37	2	61508298	61508298	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:61508298C>T	uc002sbe.2	-	38	5100	c.5078G>A	c.(5077-5079)CGT>CAT	p.R1693H	USP34_uc002sbf.2_5'Flank	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	1693					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			CAGAAAAGAACGATTGATTGA	0.408												
FAM161A	84140	broad.mit.edu	37	2	62066719	62066719	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:62066719C>T	uc010ypo.1	-	3	1522	c.1420G>A	c.(1420-1422)GCA>ACA	p.A474T	FAM161A_uc002sbm.3_Missense_Mutation_p.A474T|FAM161A_uc002sbn.3_Missense_Mutation_p.A284T|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_Missense_Mutation_p.A365T	NM_032180	NP_115556	Q3B820	F161A_HUMAN	hypothetical protein LOC84140	474					response to stimulus|visual perception	centrosome				large_intestine(2)|ovary(1)	3						TCGATGTCTGCCAAAATTTTT	0.388												
CCT4	10575	broad.mit.edu	37	2	62099411	62099411	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:62099411C>T	uc002sbo.2	-	12	1446	c.1297G>A	c.(1297-1299)GCC>ACC	p.A433T	CCT4_uc010ypp.1_Missense_Mutation_p.A377T|CCT4_uc010ypq.1_Missense_Mutation_p.A283T|CCT4_uc010ypr.1_Missense_Mutation_p.A377T|CCT4_uc010yps.1_Missense_Mutation_p.A403T	NM_006430	NP_006421	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	433					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			ovary(2)	2	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			AATCGTAGGGCCAACTCTATT	0.373												
SPRED2	200734	broad.mit.edu	37	2	65571870	65571870	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:65571870G>A	uc002sdr.3	-	2	722	c.187C>T	c.(187-189)CGA>TGA	p.R63*	SPRED2_uc010fcw.2_Nonsense_Mutation_p.R60*|SPRED2_uc010fcx.1_RNA	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	sprouty-related protein with EVH-1 domain 2	63	WH1.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			ovary(1)|lung(1)|central_nervous_system(1)	3						TCTTTCTGTCGTTCACCATGG	0.478												
ARHGAP25	9938	broad.mit.edu	37	2	69015041	69015041	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:69015041A>G	uc002seu.2	+	4	783	c.419A>G	c.(418-420)GAG>GGG	p.E140G	ARHGAP25_uc010yqk.1_Missense_Mutation_p.E114G|ARHGAP25_uc010fdg.2_Missense_Mutation_p.E140G|ARHGAP25_uc010yql.1_Intron|ARHGAP25_uc002sev.2_Missense_Mutation_p.E133G|ARHGAP25_uc002sew.2_Missense_Mutation_p.E133G|ARHGAP25_uc002sex.2_Missense_Mutation_p.E133G|ARHGAP25_uc010fdh.1_RNA	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	140	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4						GCGGAGATGGAGGAGTGGGTT	0.547												
DYSF	8291	broad.mit.edu	37	2	71755438	71755438	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:71755438C>T	uc002sie.2	+	13	1567	c.1191C>T	c.(1189-1191)GCC>GCT	p.A397A	DYSF_uc010feg.2_Silent_p.A428A|DYSF_uc010feh.2_Silent_p.A397A|DYSF_uc002sig.3_Silent_p.A397A|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.A397A|DYSF_uc010fef.2_Silent_p.A428A|DYSF_uc010fei.2_Silent_p.A428A|DYSF_uc010fek.2_Silent_p.A429A|DYSF_uc010fej.2_Silent_p.A398A|DYSF_uc010fel.2_Silent_p.A398A|DYSF_uc010feo.2_Silent_p.A429A|DYSF_uc010fem.2_Silent_p.A398A|DYSF_uc010fen.2_Silent_p.A429A|DYSF_uc002sif.2_Silent_p.A398A	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	397	Cytoplasmic (Potential).|C2 3.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						TGGACGATGCCGTGATGGACA	0.542												
ALMS1	7840	broad.mit.edu	37	2	73717248	73717248	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:73717248G>A	uc002sje.1	+	12	8276	c.8165G>A	c.(8164-8166)CGA>CAA	p.R2722Q	ALMS1_uc002sjf.1_Missense_Mutation_p.R2678Q|ALMS1_uc002sjg.2_Missense_Mutation_p.R2108Q|ALMS1_uc002sjh.1_Missense_Mutation_p.R2108Q	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2720					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						TCATCTCACCGACATTCTAAA	0.408												
C2orf89	129293	broad.mit.edu	37	2	85097639	85097639	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:85097639G>T	uc010ysl.1	-	2	468	c.379C>A	c.(379-381)CTG>ATG	p.L127M	C2orf89_uc002sou.3_Missense_Mutation_p.L127M|C2orf89_uc010fgc.1_Missense_Mutation_p.L127M	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	hypothetical protein LOC129293 precursor	127	Extracellular (Potential).					integral to membrane				ovary(1)	1						ACATACTCCAGGTGGCGCTTG	0.572												
C2orf68	388969	broad.mit.edu	37	2	85836566	85836566	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:85836566C>T	uc002sqc.2	-	3	442	c.370G>A	c.(370-372)GTC>ATC	p.V124I	USP39_uc002sqb.2_Intron|USP39_uc010ysu.1_5'Flank|USP39_uc010ysv.1_5'Flank	NM_001013649	NP_001013671	Q2NKX9	CB068_HUMAN	hypothetical protein LOC388969	124										central_nervous_system(1)	1						ACCTGATAGACGATAACTGAT	0.542												
KDM3A	55818	broad.mit.edu	37	2	86705121	86705121	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:86705121C>T	uc002sri.3	+	13	2388	c.2061C>T	c.(2059-2061)TGC>TGT	p.C687C	KDM3A_uc010ytj.1_Silent_p.C687C|KDM3A_uc010ytk.1_Silent_p.C635C	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	687	C6-type (Potential).				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						GTGTGGACTGCTACCGGATGA	0.473												
TEKT4	150483	broad.mit.edu	37	2	95542378	95542378	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:95542378G>A	uc002stw.1	+	6	1265	c.1172G>A	c.(1171-1173)CGC>CAC	p.R391H	uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	tektin 4	391	Potential.				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|breast(1)|skin(1)	3						CAGTCCCTGCGCAACCTCGAG	0.592												
CNNM4	26504	broad.mit.edu	37	2	97475139	97475139	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:97475139C>T	uc002swx.2	+	7	2311	c.2213C>T	c.(2212-2214)ACC>ATC	p.T738I	CNNM4_uc010yuy.1_Silent_p.H254H	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	cyclin M4	738					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|ovary(1)	3						GGGTGCACCACCCACATGGAG	0.572												
VWA3B	200403	broad.mit.edu	37	2	98928714	98928714	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:98928714G>A	uc002syo.2	+	28	4051	c.3787G>A	c.(3787-3789)GCC>ACC	p.A1263T	VWA3B_uc002syr.1_3'UTR|VWA3B_uc002sys.2_RNA	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1263										ovary(3)|large_intestine(2)|skin(1)	6						CAGCAGCCACGCCATCATTGC	0.597												
CNGA3	1261	broad.mit.edu	37	2	98994199	98994199	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:98994199G>A	uc002syt.2	+	3	568	c.151G>A	c.(151-153)GCC>ACC	p.A51T	CNGA3_uc002syu.2_Missense_Mutation_p.A51T|CNGA3_uc010fij.2_5'UTR	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	51					signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)|upper_aerodigestive_tract(1)	6						GCCGGGGATCGCCATGGAGAC	0.587												
FHL2	2274	broad.mit.edu	37	2	106002900	106002900	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:106002900C>A	uc002tcu.2	-	2	411	c.74G>T	c.(73-75)AGC>ATC	p.S25I	FHL2_uc002tdc.2_5'UTR|FHL2_uc002tdd.2_Missense_Mutation_p.S25I|FHL2_uc002tcv.2_Missense_Mutation_p.S25I|FHL2_uc002tcw.2_Missense_Mutation_p.S25I|FHL2_uc002tcx.2_Missense_Mutation_p.S25I|FHL2_uc010fje.2_5'UTR|FHL2_uc002tcy.2_Missense_Mutation_p.S25I|FHL2_uc002tcz.2_Missense_Mutation_p.S135I|FHL2_uc002tda.2_RNA|FHL2_uc002tdb.2_Missense_Mutation_p.S141I|FHL2_uc002tde.1_Missense_Mutation_p.S118I	NM_201557	NP_963851	Q14192	FHL2_HUMAN	four and a half LIM domains 2	25	C4-type (Potential).				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			ovary(1)	1						GCAGTAGGGGCTCTCCTCCCG	0.562												
GCC2	9648	broad.mit.edu	37	2	109088540	109088540	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:109088540C>T	uc002tec.2	+	6	2909	c.2755C>T	c.(2755-2757)CGA>TGA	p.R919*	GCC2_uc002ted.2_Nonsense_Mutation_p.R818*	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	919	Potential.				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			ovary(1)	1						AAAAGAATTACGAGATAGGAG	0.279												
BUB1	699	broad.mit.edu	37	2	111430296	111430296	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:111430296G>T	uc002tgc.2	-	4	476	c.364C>A	c.(364-366)CTT>ATT	p.L122I	BUB1_uc010yxh.1_Missense_Mutation_p.L102I|BUB1_uc010fkb.2_Missense_Mutation_p.L122I|BUB1_uc002tgd.2_Missense_Mutation_p.L122I	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	122	BUB1 N-terminal.|Necessary for interaction with CASC5.|Necessary for kinetochore localization.			L->G: Loss of interaction with CASC5.	apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CCTCTCTGAAGGACAGCACTG	0.498												
ZC3H6	376940	broad.mit.edu	37	2	113080379	113080379	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:113080379G>A	uc002thq.1	+	9	1634	c.1240G>A	c.(1240-1242)GAT>AAT	p.D414N		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	414	Pro-rich.						nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4						TCCTGAAGACGATTTTCAGAC	0.423												
SLC20A1	6574	broad.mit.edu	37	2	113414767	113414767	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:113414767G>A	uc002tib.2	+	6	1173	c.727G>A	c.(727-729)GCC>ACC	p.A243T	SLC20A1_uc002tic.1_Missense_Mutation_p.A55T	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate	243	Helical; (Potential).				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			ovary(2)	2						AGTTTTCTGTGCCCTTATCGT	0.413												
DPP10	57628	broad.mit.edu	37	2	116525877	116525877	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:116525877A>G	uc002tla.1	+	13	1575	c.1118A>G	c.(1117-1119)GAG>GGG	p.E373G	DPP10_uc002tlb.1_Missense_Mutation_p.E323G|DPP10_uc002tlc.1_Missense_Mutation_p.E369G|DPP10_uc002tle.2_Missense_Mutation_p.E377G|DPP10_uc002tlf.1_Missense_Mutation_p.E366G	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	373	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						TTTTAGAATGAGGAGCCCGTG	0.438												
CNTNAP5	129684	broad.mit.edu	37	2	125405387	125405387	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:125405387G>A	uc002tno.2	+	13	2290	c.1926G>A	c.(1924-1926)GTG>GTA	p.V642V	CNTNAP5_uc010flu.2_Silent_p.V643V	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	642	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGACCCGAGTGCGGGGCGCTA	0.562												
WDR33	55339	broad.mit.edu	37	2	128466300	128466300	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:128466300G>A	uc002tpg.1	-	21	3915	c.3732C>T	c.(3730-3732)CAC>CAT	p.H1244H		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	1244					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CCATCTCTCTGTGCTCAGAAG	0.607												
LRP1B	53353	broad.mit.edu	37	2	141200145	141200145	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:141200145G>A	uc002tvj.1	-	66	11314	c.10342C>T	c.(10342-10344)CAT>TAT	p.H3448Y		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3448	Extracellular (Potential).|LDL-receptor class A 24.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAAATGCAATGCTTCGTAGTC	0.433										TSP Lung(27;0.18)		
LYPD6B	130576	broad.mit.edu	37	2	150069635	150069635	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:150069635C>T	uc002twv.1	+	6	859	c.458C>T	c.(457-459)ACG>ATG	p.T153M	LYPD6B_uc002tww.1_Missense_Mutation_p.T115M|LYPD6B_uc002twx.1_Missense_Mutation_p.T115M	NM_177964	NP_808879	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	129	UPAR/Ly6.					anchored to membrane|plasma membrane					0						TCTGAACATACGGTAAGGATC	0.443												
NEB	4703	broad.mit.edu	37	2	152501056	152501056	+	Silent	SNP	T	T	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:152501056T>G	uc010fnx.2	-	56	7761	c.7570A>C	c.(7570-7572)AGA>CGA	p.R2524R		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2524					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)		TAACCTTTTCTCTTCAGCTCC	0.383												
KCNJ3	3760	broad.mit.edu	37	2	155555583	155555583	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:155555583C>T	uc002tyv.1	+	1	491	c.296C>T	c.(295-297)GCG>GTG	p.A99V	KCNJ3_uc010zce.1_Missense_Mutation_p.A99V	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	99	Helical; Name=M1; (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	CTTTTCATGGCGTCCATGTGG	0.567												
GPD2	2820	broad.mit.edu	37	2	157407127	157407127	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:157407127C>T	uc002tzf.3	+	8	1200	c.840C>T	c.(838-840)GAC>GAT	p.D280D	GPD2_uc010zch.1_Silent_p.D53D|GPD2_uc002tzd.3_Silent_p.D280D|GPD2_uc002tze.1_RNA	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2,	280					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			ovary(1)	1						AGGAATTTGACGTGAGAGCCA	0.438												
CCDC148	130940	broad.mit.edu	37	2	159201729	159201729	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:159201729G>A	uc002tzq.2	-	3	512	c.249C>T	c.(247-249)GTC>GTT	p.V83V	CCDC148_uc002tzr.2_Intron|CCDC148_uc010foh.2_Intron|CCDC148_uc010foi.1_Silent_p.V30V|CCDC148_uc010foj.1_Intron|CCDC148_uc010fok.1_Intron|CCDC148_uc002tzs.1_Silent_p.V83V	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	83										ovary(2)	2						GTTCTTACCTGACTTCATTCA	0.368												
ITGB6	3694	broad.mit.edu	37	2	160993949	160993949	+	Silent	SNP	G	G	A	rs139038668		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:160993949G>A	uc002ubh.2	-	10	1672	c.1656C>T	c.(1654-1656)TGC>TGT	p.C552C	ITGB6_uc010fou.2_Silent_p.C552C|ITGB6_uc010zcq.1_Silent_p.C510C|ITGB6_uc010fov.1_Silent_p.C552C	NM_000888	NP_000879	P18564	ITB6_HUMAN	integrin, beta 6 precursor	552	Extracellular (Potential).|III.|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			ovary(1)|lung(1)|skin(1)	3						GCCTACCTCCGCAGAGCAGCC	0.413												
FIGN	55137	broad.mit.edu	37	2	164466900	164466900	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:164466900G>T	uc002uck.1	-	3	1753	c.1442C>A	c.(1441-1443)CCT>CAT	p.P481H		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	481						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						GTCCACTGGAGGTCCTTGGGT	0.512												
COBLL1	22837	broad.mit.edu	37	2	165557205	165557205	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:165557205C>T	uc010zcw.1	-	13	1726	c.1602G>A	c.(1600-1602)GTG>GTA	p.V534V	COBLL1_uc002ucp.2_Silent_p.V468V|COBLL1_uc002ucq.2_Silent_p.V429V|COBLL1_uc010zcx.1_Silent_p.V475V|COBLL1_uc002ucs.1_RNA|COBLL1_uc002ucn.2_5'Flank|COBLL1_uc002uco.2_Silent_p.V198V	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	COBL-like 1	506										ovary(2)|pancreas(1)	3						CAACTTTAGGCACTTCACTCA	0.333												
SCN2A	6326	broad.mit.edu	37	2	166223735	166223735	+	Missense_Mutation	SNP	C	C	T	rs115231482	by1000genomes	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:166223735C>T	uc002udc.2	+	19	3819	c.3529C>T	c.(3529-3531)CGG>TGG	p.R1177W	SCN2A_uc002udd.2_Missense_Mutation_p.R1177W|SCN2A_uc002ude.2_Missense_Mutation_p.R1177W	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1177					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	AGACTGTGTACGGAAGTTCAA	0.348												
UBR3	130507	broad.mit.edu	37	2	170806482	170806482	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:170806482G>A	uc010zdi.1	+	23	3452	c.3452G>A	c.(3451-3453)CGC>CAC	p.R1151H	UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_5'UTR|UBR3_uc002uft.3_Missense_Mutation_p.R4H	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	E3 ubiquitin-protein ligase UBR3	1151					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0						ATGAACAAACGCATCATTGAA	0.373												
MYO3B	140469	broad.mit.edu	37	2	171243767	171243767	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:171243767C>T	uc002ufy.2	+	14	1669	c.1526C>T	c.(1525-1527)GCA>GTA	p.A509V	MYO3B_uc002ufv.2_Missense_Mutation_p.A496V|MYO3B_uc010fqb.1_Missense_Mutation_p.A496V|MYO3B_uc002ufz.2_Missense_Mutation_p.A509V|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	509	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						GTGATGGGGGCAAGAATCTCT	0.433												
TTN	7273	broad.mit.edu	37	2	179398768	179398768	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:179398768C>T	uc010zfg.1	-	307	95094	c.94870G>A	c.(94870-94872)GCC>ACC	p.A31624T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A25319T|TTN_uc010zfi.1_Missense_Mutation_p.A25252T|TTN_uc010zfj.1_Missense_Mutation_p.A25127T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32551							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)			TAGAGGATGGCCACTCCATCT	0.408												
TTN	7273	broad.mit.edu	37	2	179424439	179424439	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:179424439C>T	uc010zfg.1	-	275	78940	c.78716G>A	c.(78715-78717)CGT>CAT	p.R26239H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R19934H|TTN_uc010zfi.1_Missense_Mutation_p.R19867H|TTN_uc010zfj.1_Missense_Mutation_p.R19742H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27166							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)			CAGTGATGTACGAGAGTCTGT	0.438												
TTN	7273	broad.mit.edu	37	2	179453540	179453540	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:179453540T>C	uc010zfg.1	-	253	55432	c.55208A>G	c.(55207-55209)GAA>GGA	p.E18403G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E12098G|TTN_uc010zfi.1_Missense_Mutation_p.E12031G|TTN_uc010zfj.1_Missense_Mutation_p.E11906G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19330							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)			TTTAGTGACTTCTGGGGGATC	0.423												
TTN	7273	broad.mit.edu	37	2	179454027	179454027	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:179454027C>T	uc010zfg.1	-	253	54945	c.54721G>A	c.(54721-54723)GCT>ACT	p.A18241T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A11936T|TTN_uc010zfi.1_Missense_Mutation_p.A11869T|TTN_uc010zfj.1_Missense_Mutation_p.A11744T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19168							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)			AAGTCTGTAGCGTCTTTGTCC	0.458												
TTN	7273	broad.mit.edu	37	2	179587174	179587174	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:179587174G>A	uc010zfg.1	-	74	18832	c.18608C>T	c.(18607-18609)CCC>CTC	p.P6203L	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P2864L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7130							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)			CACTTGGATGGGTGCAGAGCC	0.398												
ITGA4	3676	broad.mit.edu	37	2	182339944	182339944	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:182339944C>T	uc002unu.2	+	4	1248	c.485C>T	c.(484-486)ACT>ATT	p.T162I	ITGA4_uc010zfl.1_Missense_Mutation_p.T162I	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	162	FG-GAP 2.|Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AAGCTCCCCACTGGTGGTTGC	0.368												
ITGA4	3676	broad.mit.edu	37	2	182399098	182399098	+	Splice_Site	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:182399098G>A	uc002unu.2	+	26	3646	c.2883_splice	c.e26+1	p.H961_splice	ITGA4_uc002unv.2_Splice_Site_p.H206_splice	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor						blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGTTGCGCATGTAAGATTACC	0.368												
PDE1A	5136	broad.mit.edu	37	2	183129093	183129093	+	Silent	SNP	G	G	A	rs148985621		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:183129093G>A	uc002uos.2	-	3	234	c.150C>T	c.(148-150)GTC>GTT	p.V50V	PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Silent_p.V50V|PDE1A_uc010zfq.1_Silent_p.V50V|PDE1A_uc002uor.2_Silent_p.V34V|PDE1A_uc002uov.1_RNA	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	phosphodiesterase 1A isoform 2	50					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TCTTTAAGTCGACGACGTTAA	0.363												
DNAH7	56171	broad.mit.edu	37	2	196636411	196636411	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:196636411C>T	uc002utj.3	-	61	11507	c.11406G>A	c.(11404-11406)TCG>TCA	p.S3802S	DNAH7_uc002uti.3_Silent_p.S285S	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3802					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TATTTACGCACGAATCTCTTA	0.328												
FZD7	8324	broad.mit.edu	37	2	202899989	202899989	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:202899989C>A	uc002uyw.1	+	1	680	c.619C>A	c.(619-621)CCC>ACC	p.P207T		NM_003507	NP_003498	O75084	FZD7_HUMAN	frizzled 7 precursor	207	Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(2)|ovary(1)|breast(1)	4						TCCCGCCTTCCCCTTCTCATG	0.731											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FZD7	8324	broad.mit.edu	37	2	202900525	202900525	+	Silent	SNP	G	G	A	rs140334850		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:202900525G>A	uc002uyw.1	+	1	1216	c.1155G>A	c.(1153-1155)GCG>GCA	p.A385A		NM_003507	NP_003498	O75084	FZD7_HUMAN	frizzled 7 precursor	385	Helical; Name=4; (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(2)|ovary(1)|breast(1)	4						ACCTGGCCGCGTGGGCCGTGC	0.647											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
WDR12	55759	broad.mit.edu	37	2	203772679	203772679	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:203772679A>G	uc002uzl.2	-	2	795	c.45T>C	c.(43-45)TAT>TAC	p.Y15Y	WDR12_uc010ftt.2_Silent_p.Y15Y	NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN	WD repeat domain 12 protein	15					cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0						CATCTACGGCATATCTATAAA	0.343												
RAPH1	65059	broad.mit.edu	37	2	204354422	204354422	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:204354422T>A	uc002vad.2	-	4	842	c.617A>T	c.(616-618)AAT>ATT	p.N206I	RAPH1_uc002vae.2_Missense_Mutation_p.N206I|RAPH1_uc002vaf.2_Missense_Mutation_p.N206I	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	206					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						ATGGGAGGAATTACTAATAGA	0.453												
PARD3B	117583	broad.mit.edu	37	2	205978267	205978267	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:205978267C>G	uc002var.1	+	6	853	c.646C>G	c.(646-648)CAT>GAT	p.H216D	PARD3B_uc010fub.1_Missense_Mutation_p.H216D|PARD3B_uc002vao.1_Missense_Mutation_p.H216D|PARD3B_uc002vap.1_Missense_Mutation_p.H216D|PARD3B_uc002vaq.1_Missense_Mutation_p.H216D	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	216	PDZ 1.				cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ATTGGGAATACATGTAGTGCC	0.423												
PARD3B	117583	broad.mit.edu	37	2	205983711	205983711	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:205983711C>T	uc002var.1	+	7	954	c.747C>T	c.(745-747)CAC>CAT	p.H249H	PARD3B_uc010fub.1_Silent_p.H249H|PARD3B_uc002vao.1_Silent_p.H249H|PARD3B_uc002vap.1_Silent_p.H249H|PARD3B_uc002vaq.1_Silent_p.H249H	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	249	PDZ 1.				cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GACTATTTCACGAAAATGAAT	0.348												
NRP2	8828	broad.mit.edu	37	2	206587398	206587398	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:206587398C>T	uc002vaw.2	+	4	1421	c.630C>T	c.(628-630)TAC>TAT	p.Y210Y	NRP2_uc002vat.2_Silent_p.Y210Y|NRP2_uc002vau.2_Silent_p.Y210Y|NRP2_uc002vav.2_Silent_p.Y210Y|NRP2_uc002vax.2_Silent_p.Y210Y|NRP2_uc002vay.2_Silent_p.Y210Y|NRP2_uc010fud.2_Silent_p.Y210Y	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	210	Extracellular (Potential).|CUB 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4						ACTGCAAGTACGATTGGCTGG	0.502												
INO80D	54891	broad.mit.edu	37	2	206870106	206870106	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:206870106T>C	uc002vaz.3	-	11	2475	c.2070A>G	c.(2068-2070)ATA>ATG	p.I690M		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	690					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						AGAACACCCCTATTCCTCTAT	0.527												
CRYGC	1420	broad.mit.edu	37	2	208993108	208993108	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:208993108C>T	uc002vco.3	-	3	382	c.344G>A	c.(343-345)CGC>CAC	p.R115H		NM_020989	NP_066269	P07315	CRGC_HUMAN	crystallin, gamma C	115	Beta/gamma crystallin 'Greek key' 3.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens				0				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GAGGTGGAAGCGGTCCTGGAT	0.627												
PTH2R	5746	broad.mit.edu	37	2	209308074	209308074	+	Nonsense_Mutation	SNP	C	C	T	rs149710383		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:209308074C>T	uc002vdb.2	+	6	724	c.511C>T	c.(511-513)CGA>TGA	p.R171*	PTH2R_uc010zjb.1_Nonsense_Mutation_p.R182*	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	171	Cytoplasmic (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TCTCCGTAGACGATTGCATTG	0.433												
MAP2	4133	broad.mit.edu	37	2	210559705	210559705	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:210559705G>A	uc002vde.1	+	7	3059	c.2811G>A	c.(2809-2811)GCG>GCA	p.A937A	MAP2_uc002vdc.1_Silent_p.A937A|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.A933A	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	937					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AAGCATCCGCGCATATCTCTG	0.433												
CPS1	1373	broad.mit.edu	37	2	211457621	211457621	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:211457621A>G	uc002vee.3	+	11	1237	c.1105A>G	c.(1105-1107)AAA>GAA	p.K369E	CPS1_uc010fur.2_Missense_Mutation_p.K375E|CPS1_uc010fus.2_5'Flank	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	369	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GCATGAGAGCAAACCCTTCTT	0.418												
CPS1	1373	broad.mit.edu	37	2	211540487	211540487	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:211540487C>T	uc002vee.3	+	36	4329	c.4197C>T	c.(4195-4197)AAC>AAT	p.N1399N	CPS1_uc010fur.2_Silent_p.N1405N|CPS1_uc010fus.2_Silent_p.N948N	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	1399					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		ACTGGCTCAACGCCAACAATG	0.438												
IKZF2	22807	broad.mit.edu	37	2	213921663	213921663	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:213921663T>G	uc002vem.2	-	4	469	c.300A>C	c.(298-300)CAA>CAC	p.Q100H	IKZF2_uc010fuu.2_Intron|IKZF2_uc002vej.2_Missense_Mutation_p.Q47H|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.Q100H|IKZF2_uc002vel.2_Missense_Mutation_p.Q47H|IKZF2_uc010fuw.2_5'UTR|IKZF2_uc010fux.2_Intron|IKZF2_uc010fuy.2_Missense_Mutation_p.Q100H|IKZF2_uc002ven.2_Missense_Mutation_p.Q100H	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	helios isoform 1	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CTCCCTCGCCTTGAAGCTCCT	0.512												
SPAG16	79582	broad.mit.edu	37	2	215274888	215274888	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:215274888G>A	uc002veq.2	+	16	1837	c.1745G>A	c.(1744-1746)GGC>GAC	p.G582D	SPAG16_uc002ver.2_Missense_Mutation_p.G528D|SPAG16_uc010zjk.1_Missense_Mutation_p.G488D|VWC2L_uc002vet.2_5'Flank|VWC2L_uc010zjl.1_5'Flank	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	582	WD 6.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CAGGCAAGTGGCAATGGTGTT	0.438												
ABCA12	26154	broad.mit.edu	37	2	215876354	215876354	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:215876354C>T	uc002vew.2	-	17	2361	c.2141G>A	c.(2140-2142)CGA>CAA	p.R714Q	ABCA12_uc002vev.2_Missense_Mutation_p.R396Q|ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	714					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGTGTTCATTCGGTTGCTTCT	0.403												
FN1	2335	broad.mit.edu	37	2	216273121	216273121	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:216273121G>A	uc002vfa.2	-	16	2594	c.2328C>T	c.(2326-2328)AAC>AAT	p.N776N	FN1_uc002vfb.2_Silent_p.N776N|FN1_uc002vfc.2_Silent_p.N776N|FN1_uc002vfd.2_Silent_p.N776N|FN1_uc002vfe.2_Silent_p.N776N|FN1_uc002vff.2_Silent_p.N776N|FN1_uc002vfg.2_Silent_p.N776N|FN1_uc002vfh.2_Silent_p.N776N|FN1_uc002vfi.2_Silent_p.N776N|FN1_uc002vfj.2_Silent_p.N776N	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	776	Fibronectin type-III 2.				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)	GGTCAGGGATGTTCACAGAAG	0.408												
TNS1	7145	broad.mit.edu	37	2	218683462	218683462	+	Missense_Mutation	SNP	G	G	A	rs149785174	by1000genomes	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:218683462G>A	uc002vgt.2	-	24	3679	c.3281C>T	c.(3280-3282)CCG>CTG	p.P1094L	TNS1_uc002vgr.2_Missense_Mutation_p.P1081L|TNS1_uc002vgs.2_Missense_Mutation_p.P1073L|TNS1_uc010zjv.1_Missense_Mutation_p.P1073L	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	1094	Ser-rich.					cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CTCTCCCGACGGGAAACTCCC	0.627												
CYP27A1	1593	broad.mit.edu	37	2	219676971	219676971	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:219676971G>A	uc002viz.3	+	3	907	c.473G>A	c.(472-474)CGC>CAC	p.R158H		NM_000784	NP_000775	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A,	158					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	TACCAGCTGCGCCAGGCTCTG	0.537												
CCDC108	255101	broad.mit.edu	37	2	219893035	219893035	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:219893035C>T	uc002vjl.1	-	12	1823	c.1739G>A	c.(1738-1740)CGC>CAC	p.R580H	CCDC108_uc010fwa.1_Missense_Mutation_p.R23H|CCDC108_uc010zkp.1_Missense_Mutation_p.R569H|CCDC108_uc010zkq.1_Missense_Mutation_p.R515H	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	580						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGGTGTGTGCGGTACCAGGT	0.617												
ABCB6	10058	broad.mit.edu	37	2	220074986	220074986	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:220074986C>T	uc002vkc.1	-	18	2663	c.2386G>A	c.(2386-2388)GTC>ATC	p.V796I	ABCB6_uc010fwe.1_Missense_Mutation_p.V750I	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B, member 6	796	ABC transporter.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTTGATGACGAGGATCTGG	0.552												
INHA	3623	broad.mit.edu	37	2	220440169	220440169	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:220440169G>A	uc002vmk.1	+	2	1166	c.1022G>A	c.(1021-1023)CGC>CAC	p.R341H		NM_002191	NP_002182	P05111	INHA_HUMAN	inhibin alpha subunit precursor	341					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTACATGTCCGCACCACCTCG	0.612												
WDFY1	57590	broad.mit.edu	37	2	224758993	224758993	+	Silent	SNP	G	G	A	rs145535635		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:224758993G>A	uc002vnq.2	-	8	840	c.789C>T	c.(787-789)GAC>GAT	p.D263D		NM_020830	NP_065881	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	263	WD 6.					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			lung(1)	1		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		CAATTCCGCCGTCCGAGGAAC	0.557												
DOCK10	55619	broad.mit.edu	37	2	225637874	225637874	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:225637874C>A	uc010fwz.1	-	53	6443	c.6204G>T	c.(6202-6204)AAG>AAT	p.K2068N	DOCK10_uc002vob.2_Missense_Mutation_p.K2062N|DOCK10_uc002voa.2_Missense_Mutation_p.K724N	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2068	DHR-2.						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)		GCTTACTCACCTTCACGCTGA	0.433												
SPHKAP	80309	broad.mit.edu	37	2	228883406	228883406	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:228883406T>C	uc002vpq.2	-	7	2211	c.2164A>G	c.(2164-2166)AAG>GAG	p.K722E	SPHKAP_uc002vpp.2_Missense_Mutation_p.K722E|SPHKAP_uc010zlx.1_Missense_Mutation_p.K722E	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	722						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTCATCTTCTTGAACGTGAAG	0.438												
SLC16A14	151473	broad.mit.edu	37	2	230923861	230923861	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:230923861C>T	uc002vqd.1	-	2	571	c.208G>A	c.(208-210)GGC>AGC	p.G70S	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.G70S|SLC16A14_uc002vqf.2_Missense_Mutation_p.G70S	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	70	Cytoplasmic (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GCGGTCAGGCCGCGGCTCTGG	0.537												
ALPI	248	broad.mit.edu	37	2	233322294	233322294	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:233322294G>A	uc002vst.3	+	6	745	c.668G>A	c.(667-669)CGC>CAC	p.R223H	ALPI_uc002vsu.3_Missense_Mutation_p.R134H	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	223					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGCGGAGGCCGCAAGTACATG	0.632												
HJURP	55355	broad.mit.edu	37	2	234750556	234750556	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:234750556C>T	uc002vvg.2	-	8	936	c.870G>A	c.(868-870)ATG>ATA	p.M290I	HJURP_uc010znd.1_Missense_Mutation_p.M229I|HJURP_uc010zne.1_Missense_Mutation_p.M198I	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	290					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)		TCCAGTTTTGCATGATGAACG	0.493												
COL6A3	1293	broad.mit.edu	37	2	238245163	238245163	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:238245163A>G	uc002vwl.2	-	40	8865	c.8580T>C	c.(8578-8580)AAT>AAC	p.N2860N	COL6A3_uc002vwo.2_Silent_p.N2654N|COL6A3_uc010znj.1_Silent_p.N2253N|COL6A3_uc002vwj.2_Silent_p.N241N	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2860	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAGTAACGTTATTCGGAACAT	0.398												
ILKAP	80895	broad.mit.edu	37	2	239090722	239090722	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:239090722C>T	uc002vxv.2	-	9	950	c.820G>A	c.(820-822)GCT>ACT	p.A274T	ILKAP_uc010zns.1_Missense_Mutation_p.A206T|ILKAP_uc002vxw.2_Missense_Mutation_p.A154T|ILKAP_uc010znt.1_Missense_Mutation_p.A154T	NM_030768	NP_110395	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated protein	274	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			ovary(3)	3		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TTTCCTCCAGCCTTCTGTATC	0.488												
PER2	8864	broad.mit.edu	37	2	239161605	239161605	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:239161605G>A	uc002vyc.2	-	19	3296	c.3059C>T	c.(3058-3060)GCG>GTG	p.A1020V	PER2_uc010znv.1_Missense_Mutation_p.A1020V	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	1020					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TTTGCAGTCCGCCCCTACAGC	0.622												
PRR21	643905	broad.mit.edu	37	2	240981288	240981288	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:240981288G>C	uc010zod.1	-	1	1112	c.1112C>G	c.(1111-1113)GCC>GGC	p.A371G		NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN	proline rich 21	371										ovary(1)|skin(1)	2						GTTGAAGGTGGCCCTGGCAGA	0.478												
ANKMY1	51281	broad.mit.edu	37	2	241463615	241463615	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:241463615C>T	uc002vyz.1	-	7	1481	c.1252G>A	c.(1252-1254)GGG>AGG	p.G418R	ANKMY1_uc002vza.1_Missense_Mutation_p.G277R|ANKMY1_uc010fzd.1_Missense_Mutation_p.G507R|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Missense_Mutation_p.G277R|ANKMY1_uc002vzd.1_Missense_Mutation_p.G277R|ANKMY1_uc010fze.1_Missense_Mutation_p.G87R|ANKMY1_uc002vze.2_Missense_Mutation_p.G179R	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	418							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)		CCACACTGCCCGGTGTCCTGG	0.657												
KIF1A	547	broad.mit.edu	37	2	241712648	241712648	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:241712648G>A	uc002vzy.2	-	13	1209	c.1063C>T	c.(1063-1065)CGC>TGC	p.R355C	KIF1A_uc010fzk.2_Missense_Mutation_p.R355C|KIF1A_uc002vzz.1_Missense_Mutation_p.R355C	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	355	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCATTGCAGCGGATCTGCTTG	0.627												
KIF1A	547	broad.mit.edu	37	2	241726674	241726674	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:241726674G>A	uc002vzy.2	-	5	569	c.423C>T	c.(421-423)TCC>TCT	p.S141S	KIF1A_uc010fzk.2_Silent_p.S141S|KIF1A_uc002vzz.1_Silent_p.S141S	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	141	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTACCTCCACGGAGTAGGACA	0.632												
MTERFD2	130916	broad.mit.edu	37	2	242039193	242039193	+	Silent	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:242039193G>T	uc002wan.1	-	1	718	c.225C>A	c.(223-225)GCC>GCA	p.A75A	MTERFD2_uc010zoj.1_Intron|MTERFD2_uc010zok.1_Silent_p.A46A	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	46										ovary(1)	1		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		CTCCATTGGAGGCTGTAGTCA	0.507												
PASK	23178	broad.mit.edu	37	2	242066171	242066171	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:242066171G>A	uc002wao.1	-	10	2251	c.2159C>T	c.(2158-2160)ACG>ATG	p.T720M	PASK_uc010zol.1_Missense_Mutation_p.T534M|PASK_uc010zom.1_Missense_Mutation_p.T685M|PASK_uc010fzl.1_Missense_Mutation_p.T720M|PASK_uc010zon.1_Missense_Mutation_p.T501M|PASK_uc002wap.2_Missense_Mutation_p.T263M|PASK_uc002waq.2_Missense_Mutation_p.T720M	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	720					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)		AGGGAGGTCCGTGGCCAAGGC	0.607												
PASK	23178	broad.mit.edu	37	2	242066359	242066359	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:242066359C>T	uc002wao.1	-	10	2063	c.1971G>A	c.(1969-1971)CTG>CTA	p.L657L	PASK_uc010zol.1_Silent_p.L471L|PASK_uc010zom.1_Silent_p.L622L|PASK_uc010fzl.1_Silent_p.L657L|PASK_uc010zon.1_Silent_p.L438L|PASK_uc002wap.2_Silent_p.L200L|PASK_uc002waq.2_Silent_p.L657L	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	657					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)		AGCAGGTCTGCAGCTCTTCTC	0.607												
ANO7	50636	broad.mit.edu	37	2	242163537	242163537	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:242163537C>T	uc002wax.2	+	25	2874	c.2771C>T	c.(2770-2772)ACG>ATG	p.T924M		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	924	Cytoplasmic (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						ACACCCTTCACGGTTCCCAAG	0.652												
HDLBP	3069	broad.mit.edu	37	2	242174626	242174626	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:242174626G>A	uc002waz.2	-	23	3282	c.3054C>T	c.(3052-3054)ATC>ATT	p.I1018I	HDLBP_uc002wba.2_Silent_p.I1018I|HDLBP_uc002wbb.2_Silent_p.I970I	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1018	KH 12.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|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;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCGTGATGGCGATGATGTCAG	0.597												
TGM3	7053	broad.mit.edu	37	20	2308989	2308989	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:2308989G>A	uc002wfx.3	+	9	1408	c.1311G>A	c.(1309-1311)ACG>ACA	p.T437T		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	437					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	TGGACGTCACGGACAAGTACA	0.567												
FAM113A	64773	broad.mit.edu	37	20	2820491	2820491	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:2820491G>A	uc002wgz.1	-	2	565	c.68C>T	c.(67-69)GCC>GTC	p.A23V	FAM113A_uc002whb.1_5'UTR|FAM113A_uc002wha.1_5'UTR|FAM113A_uc010zqa.1_5'UTR|FAM113A_uc002whc.1_Missense_Mutation_p.A23V|VPS16_uc002whe.2_5'Flank|VPS16_uc002whf.2_5'Flank|VPS16_uc002whd.2_5'Flank	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN	hypothetical protein LOC64773	23							hydrolase activity|protein binding			ovary(2)	2						GACTTCCGAGGCCTGGAAGTG	0.622												
SMOX	54498	broad.mit.edu	37	20	4167954	4167954	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:4167954G>A	uc002wkm.1	+	7	1769	c.1568G>A	c.(1567-1569)CGC>CAC	p.R523H	SMOX_uc002wkk.1_Missense_Mutation_p.R500H|SMOX_uc002wkl.1_Missense_Mutation_p.R470H|SMOX_uc002wkn.1_Missense_Mutation_p.R158H|SMOX_uc002wkp.2_Missense_Mutation_p.R553H|SMOX_uc010zqo.1_Missense_Mutation_p.R447H|SMOX_uc002wko.1_Missense_Mutation_p.R523H	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	spermine oxidase isoform 1	523					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)	1					Spermine(DB00127)	GCCACCCACCGCAAGTACTAT	0.647												
PROKR2	128674	broad.mit.edu	37	20	5282888	5282888	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:5282888A>G	uc010zqw.1	-	2	953	c.953T>C	c.(952-954)GTC>GCC	p.V318A	PROKR2_uc010zqx.1_Missense_Mutation_p.V318A|PROKR2_uc010zqy.1_Missense_Mutation_p.V318A	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	318	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5						GATGCACTCGACCACGTAGAA	0.517										HNSCC(71;0.22)		
PLCB4	5332	broad.mit.edu	37	20	9404516	9404516	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:9404516G>A	uc002wnf.2	+	26	2541	c.2405G>A	c.(2404-2406)CGA>CAA	p.R802Q	PLCB4_uc010gbw.1_Missense_Mutation_p.R802Q|PLCB4_uc010gbx.2_Missense_Mutation_p.R814Q|PLCB4_uc002wne.2_Missense_Mutation_p.R802Q|PLCB4_uc002wnh.2_Missense_Mutation_p.R649Q	NM_182797	NP_877949	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform b	802					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			skin(11)|ovary(3)|pancreas(1)	15						ATTTCCCTTCGAAATGAGGGA	0.408												
ZNF133	7692	broad.mit.edu	37	20	18295755	18295755	+	Missense_Mutation	SNP	C	C	T	rs151186857	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:18295755C>T	uc010gcq.2	+	5	565	c.260C>T	c.(259-261)CCG>CTG	p.P87L	ZNF133_uc010zrv.1_Missense_Mutation_p.P90L|ZNF133_uc010zrw.1_Missense_Mutation_p.P24L|ZNF133_uc010gcr.2_Missense_Mutation_p.P87L|ZNF133_uc010zrx.1_5'UTR|ZNF133_uc002wql.3_Missense_Mutation_p.P86L|ZNF133_uc010gcs.2_Missense_Mutation_p.P86L|ZNF133_uc010zry.1_5'UTR|ZNF133_uc002wqm.2_Missense_Mutation_p.P87L	NM_003434	NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	87						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)	2						TTCTGCCCTCCGGGTTTCTCC	0.532												
PAX1	5075	broad.mit.edu	37	20	21687619	21687619	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:21687619C>T	uc002wsj.2	+	2	884	c.830C>T	c.(829-831)GCG>GTG	p.A277V	PAX1_uc010zsl.1_Missense_Mutation_p.A277V|PAX1_uc010zsm.1_Missense_Mutation_p.A253V	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	277					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						CCGGGCACGGCGGGCCACGTC	0.667												
GGTLC1	92086	broad.mit.edu	37	20	23967095	23967095	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:23967095C>T	uc002wts.2	-	2	287	c.154G>A	c.(154-156)GCC>ACC	p.A52T	GGTLC1_uc002wtu.2_Missense_Mutation_p.A52T	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	52							gamma-glutamyltransferase activity			ovary(1)	1						GTGCTGGTGGCGGACACAGCA	0.627												
PYGB	5834	broad.mit.edu	37	20	25239910	25239910	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:25239910G>A	uc002wup.2	+	2	390	c.281G>A	c.(280-282)CGC>CAC	p.R94H		NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase	94					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					Pyridoxal Phosphate(DB00114)	TACATGGGTCGCACGCTGCAG	0.493												
SUN5	140732	broad.mit.edu	37	20	31590444	31590444	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:31590444G>A	uc002wyi.2	-	3	253	c.160C>T	c.(160-162)CGC>TGC	p.R54C		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	sperm associated antigen 4-like	54					spermatogenesis					skin(1)	1						TCATTGTTGCGGACAGGCAAC	0.438												
NCOA6	23054	broad.mit.edu	37	20	33356268	33356268	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:33356268T>C	uc002xav.2	-	6	3084	c.513A>G	c.(511-513)CCA>CCG	p.P171P	NCOA6_uc002xaw.2_Silent_p.P171P|NCOA6_uc010gew.1_Silent_p.P171P	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	171	TBP/GTF2A-binding region.|NCOA1-binding region.|CREBBP-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						AGGTCTTACCTGGACCACTTG	0.458												
RBM39	9584	broad.mit.edu	37	20	34295045	34295045	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:34295045T>C	uc002xeb.2	-	14	1648	c.1304A>G	c.(1303-1305)CAA>CGA	p.Q435R	RBM39_uc002xdz.2_Missense_Mutation_p.Q411R|RBM39_uc002xea.2_Missense_Mutation_p.Q278R|RBM39_uc010gfn.2_Missense_Mutation_p.Q278R|RBM39_uc010zvm.1_Missense_Mutation_p.Q407R|RBM39_uc002xeg.2_Missense_Mutation_p.Q413R|RBM39_uc002xec.2_Missense_Mutation_p.Q429R|RBM39_uc002xed.2_Missense_Mutation_p.Q153R|RBM39_uc002xee.2_Missense_Mutation_p.Q278R|RBM39_uc002xef.2_Missense_Mutation_p.Q272R|RBM39_uc010zvn.1_Missense_Mutation_p.Q278R	NM_184234	NP_909122	Q14498	RBM39_HUMAN	RNA binding motif protein 39 isoform a	435	Interaction with NCOA6 (By similarity).				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TACTTACGTTTGAGGGTTAAA	0.294												
SLC32A1	140679	broad.mit.edu	37	20	37357184	37357184	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:37357184G>A	uc002xjc.2	+	2	1743	c.1480G>A	c.(1480-1482)GTC>ATC	p.V494I		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	494	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTTCTTCGACGTCGCCATCTT	0.647												
CHD6	84181	broad.mit.edu	37	20	40081539	40081539	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:40081539T>G	uc002xka.1	-	21	3342	c.3164A>C	c.(3163-3165)AAA>ACA	p.K1055T		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1055					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)				GTTGTAGTGTTTGGTCTGCTT	0.483												
SFRS6	6431	broad.mit.edu	37	20	42089154	42089154	+	Splice_Site	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:42089154G>T	uc010zwg.1	+	5	761	c.591_splice	c.e5-1	p.R197_splice	SFRS6_uc002xki.2_Splice_Site_p.R68_splice|SFRS6_uc002xkk.2_Splice_Site_p.R197_splice	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	arginine/serine-rich splicing factor 6						mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCTCCTAATAGGTCTCGATCT	0.408												
MATN4	8785	broad.mit.edu	37	20	43933295	43933295	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:43933295G>A	uc002xnn.2	-	3	403	c.216C>T	c.(214-216)CGC>CGT	p.R72R	MATN4_uc002xno.2_Silent_p.R72R|MATN4_uc002xnp.2_Silent_p.R72R|MATN4_uc010zwr.1_Silent_p.R20R|MATN4_uc002xnr.1_Silent_p.R72R|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	72	VWFA 1.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				TCACGCCAACGCGCGTGGCGT	0.652												
SPINLW1	57119	broad.mit.edu	37	20	44166631	44166631	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:44166631C>T	uc010zxc.1	-	4	526	c.494G>A	c.(493-495)CGT>CAT	p.R165H	WFDC6_uc002xos.1_Missense_Mutation_p.R65H	NM_020398	NP_065131	O95925	EPPI_HUMAN	serine peptidase inhibitor-like, with Kunitz and	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						extracellular region	serine-type endopeptidase inhibitor activity			pancreas(1)	1		Myeloproliferative disorder(115;0.0122)				TTTCTTTCCACGGCTGAACGG	0.473												
CTSA	5476	broad.mit.edu	37	20	44521441	44521441	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:44521441G>A	uc002xqj.3	+	6	996	c.522G>A	c.(520-522)CTG>CTA	p.L174L	NEURL2_uc002xqg.1_5'Flank|CTSA_uc002xqh.2_Silent_p.L192L|CTSA_uc002xqi.2_RNA|CTSA_uc010zxi.1_Silent_p.L175L|CTSA_uc002xqk.3_Silent_p.L174L	NM_001127695	NP_001121167	P10619	PPGB_HUMAN	cathepsin A isoform b precursor	174					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				AACTTTTCCTGACCGGGGAGA	0.562												
CTCFL	140690	broad.mit.edu	37	20	56098737	56098737	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:56098737T>A	uc010gix.1	-	1	1187	c.525A>T	c.(523-525)GAA>GAT	p.E175D	CTCFL_uc010giw.1_Missense_Mutation_p.E175D|CTCFL_uc002xym.2_Missense_Mutation_p.E175D|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Missense_Mutation_p.E175D|CTCFL_uc010gjb.1_Missense_Mutation_p.E175D|CTCFL_uc010gjc.1_Missense_Mutation_p.E175D|CTCFL_uc010gjd.1_Missense_Mutation_p.E175D|CTCFL_uc010gje.2_Missense_Mutation_p.E175D|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Missense_Mutation_p.E175D|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Missense_Mutation_p.E175D|CTCFL_uc010gjk.1_Missense_Mutation_p.E175D|CTCFL_uc010gjl.1_Missense_Mutation_p.E175D	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	175					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|skin(1)	4	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GTCCAGTAGTTTCAGCCAGGC	0.443												
GNAS	2778	broad.mit.edu	37	20	57415375	57415375	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:57415375G>A	uc002xzt.2	+	1	581	c.214G>A	c.(214-216)GGC>AGC	p.G72S	GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	GNAS complex locus NESP55	72				Missing (in Ref. 8; AAH66923).	activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCACCGCTCCGGCGCCCAGGT	0.677			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)		
TH1L	51497	broad.mit.edu	37	20	57564992	57564992	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:57564992G>A	uc002yag.2	+	7	791	c.764G>A	c.(763-765)GGC>GAC	p.G255D	TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Missense_Mutation_p.G255D	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	TH1-like protein	255					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	all_lung(29;0.00711)		Colorectal(105;0.109)			GAGCAGGGGGGCTCCGCTGTG	0.622												
C20orf197	284756	broad.mit.edu	37	20	58645855	58645855	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:58645855G>A	uc002ybj.1	+	4	579	c.273G>A	c.(271-273)ATG>ATA	p.M91I		NM_173644	NP_775915	Q8N268	CT197_HUMAN	hypothetical protein LOC284756	91										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			cagtcacaatgtgcatttggg	0.219												
PSMA7	5688	broad.mit.edu	37	20	60714901	60714901	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:60714901C>T	uc002ybx.1	-	3	399	c.284G>A	c.(283-285)CGG>CAG	p.R95Q	PSMA7_uc002yby.1_RNA	NM_002792	NP_002783	O14818	PSA7_HUMAN	proteasome alpha 7 subunit	95					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 core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity				0	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CACAGTCAGCCGGTGGCTCTG	0.612												
OSBPL2	9885	broad.mit.edu	37	20	60854271	60854271	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:60854271G>A	uc002yck.1	+	7	752	c.550G>A	c.(550-552)GCG>ACG	p.A184T	OSBPL2_uc002ycl.1_Missense_Mutation_p.A172T|OSBPL2_uc011aah.1_Missense_Mutation_p.A92T|OSBPL2_uc002ycm.1_5'UTR	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	oxysterol-binding protein-like protein 2 isoform	184					lipid transport		lipid binding			ovary(1)|central_nervous_system(1)	2	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			CCCCATCAGTGCGTTCCACTC	0.507												
DIDO1	11083	broad.mit.edu	37	20	61525803	61525803	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:61525803C>T	uc002ydr.1	-	11	2798	c.2534G>A	c.(2533-2535)CGC>CAC	p.R845H	DIDO1_uc002yds.1_Missense_Mutation_p.R845H|DIDO1_uc002ydt.1_Missense_Mutation_p.R845H|DIDO1_uc002ydu.1_Missense_Mutation_p.R845H	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	845					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					GAGGTGTGCGCGGTGCTGACT	0.507												
YTHDF1	54915	broad.mit.edu	37	20	61835152	61835152	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:61835152C>T	uc002yeh.2	-	4	434	c.140G>A	c.(139-141)AGT>AAT	p.S47N	YTHDF1_uc011aaq.1_5'UTR	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	47										ovary(2)	2						TGAGGGGTAACTGTTACTCTG	0.512												
PRIC285	85441	broad.mit.edu	37	20	62196162	62196162	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:62196162C>T	uc002yfm.2	-	9	4905	c.4013G>A	c.(4012-4014)CGC>CAC	p.R1338H	PRIC285_uc002yfl.1_Missense_Mutation_p.R769H	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1338					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)			CAAGAAGGCGCGGCAGTCCTC	0.662												
TNFRSF6B	8771	broad.mit.edu	37	20	62329757	62329757	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:62329757G>A	uc002yfy.2	+	7	1178	c.744G>A	c.(742-744)GCG>GCA	p.A248A	RTEL1_uc002yfw.2_RNA|TNFRSF6B_uc002yfz.2_Silent_p.A248A	NM_032945	NP_116563	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily,	248					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			CACCAAGGGCGGGCCGCGCGG	0.716												
TCEA2	6919	broad.mit.edu	37	20	62697836	62697836	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:62697836C>T	uc011abs.1	+	2	736	c.80C>T	c.(79-81)GCC>GTC	p.A27V	TCEA2_uc011abr.1_5'UTR|TCEA2_uc010gkq.2_5'UTR|TCEA2_uc010gks.2_Missense_Mutation_p.A27V|TCEA2_uc010gkt.2_5'UTR|TCEA2_uc010gku.1_5'UTR	NM_003195	NP_003186	Q15560	TCEA2_HUMAN	transcription elongation factor A protein 2	27	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding				0	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CAGGAGGGAGCCATGGATTTG	0.567												
NPBWR2	2832	broad.mit.edu	37	20	62737901	62737901	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:62737901G>A	uc011abt.1	-	1	284	c.284C>T	c.(283-285)ACG>ATG	p.T95M		NM_005286	NP_005277	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	95	Helical; Name=2; (Potential).					plasma membrane	opioid receptor activity|protein binding			large_intestine(1)	1	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CAGTACCAGCGTGAAGAGCCC	0.612												
NRIP1	8204	broad.mit.edu	37	21	16340294	16340294	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr21:16340294G>T	uc002yjx.2	-	4	818	c.220C>A	c.(220-222)CAG>AAG	p.Q74K		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	74					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CCAGACCCCTGATATGTATGT	0.458												
USP25	29761	broad.mit.edu	37	21	17250724	17250724	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr21:17250724C>T	uc002yjy.1	+	24	3315	c.3098C>T	c.(3097-3099)ACG>ATG	p.T1033M	USP25_uc011aby.1_Missense_Mutation_p.T1103M|USP25_uc002yjz.1_Missense_Mutation_p.T1065M|USP25_uc010gla.1_Missense_Mutation_p.T428M	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	1033					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TCATATTCCACGCATGAACTC	0.433												
ADAMTS1	9510	broad.mit.edu	37	21	28212641	28212641	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr21:28212641C>T	uc002ymf.2	-	5	2074	c.1619G>A	c.(1618-1620)TGT>TAT	p.C540Y		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	540	Disintegrin.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		GCCGTTGATACACCATTTCCC	0.473												
KRTAP27-1	643812	broad.mit.edu	37	21	31709741	31709741	+	Silent	SNP	G	G	T	rs139729864		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr21:31709741G>T	uc002ynx.1	-	1	272	c.246C>A	c.(244-246)CCC>CCA	p.P82P		NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	82						intermediate filament				ovary(2)	2						GGACAACTCCGGGGAAGCAGT	0.478												
C21orf59	56683	broad.mit.edu	37	21	33954519	33954519	+	Silent	SNP	C	C	T	rs145187250		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr21:33954519C>T	uc002ypy.1	-	7	1082	c.969G>A	c.(967-969)TCG>TCA	p.S323S	TCP10L_uc002ypw.3_Silent_p.S117S|C21orf59_uc002ypx.1_Silent_p.S140S|C21orf59_uc002ypz.1_Silent_p.S291S	NM_021254	NP_067077	P57076	CU059_HUMAN	hypothetical protein LOC56683	Error:Variant_position_missing_in_P57076_after_alignment						cytosol|nucleus					0						CCAGAGTGTGCGATTCTTGCC	0.502												
SON	6651	broad.mit.edu	37	21	34923905	34923905	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr21:34923905A>T	uc002yse.1	+	3	2417	c.2368A>T	c.(2368-2370)ACT>TCT	p.T790S	SON_uc002ysb.1_Missense_Mutation_p.T790S|SON_uc002ysc.2_Missense_Mutation_p.T790S|SON_uc002ysd.2_Intron|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	790	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				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						AGCAACTAGCACTATGGACTC	0.512												
SON	6651	broad.mit.edu	37	21	34923907	34923907	+	Silent	SNP	T	T	C	rs146626998		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr21:34923907T>C	uc002yse.1	+	3	2419	c.2370T>C	c.(2368-2370)ACT>ACC	p.T790T	SON_uc002ysb.1_Silent_p.T790T|SON_uc002ysc.2_Silent_p.T790T|SON_uc002ysd.2_Intron|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	790	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				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						CAACTAGCACTATGGACTCCC	0.517												
KCNJ15	3772	broad.mit.edu	37	21	39672159	39672159	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr21:39672159G>A	uc002ywv.2	+	4	1278	c.976G>A	c.(976-978)GAT>AAT	p.D326N	KCNJ15_uc002yww.2_Missense_Mutation_p.D326N|KCNJ15_uc002ywx.2_Missense_Mutation_p.D326N	NM_002243	NP_002234	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	326	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						ATATGTGGCTGATTTCAGTCA	0.443												
TRAPPC10	7109	broad.mit.edu	37	21	45511891	45511891	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr21:45511891C>T	uc002zea.2	+	19	3127	c.2958C>T	c.(2956-2958)ACC>ACT	p.T986T	TRAPPC10_uc010gpo.2_Silent_p.T697T|TRAPPC10_uc011afa.1_Silent_p.T364T|TRAPPC10_uc011afb.1_Silent_p.T91T	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	986					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						GTGATAGTACCGACCTGCAAC	0.418												
ADARB1	104	broad.mit.edu	37	21	46640907	46640907	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr21:46640907G>A	uc002zgy.2	+	11	2459	c.2024G>A	c.(2023-2025)CGC>CAC	p.R675H	ADARB1_uc002zgr.2_Missense_Mutation_p.R675H|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.R635H|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.R635H|ADARB1_uc010gpx.2_RNA|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	675	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)		TTGTACTGTCGCTGGATGCGT	0.612												
C22orf29	79680	broad.mit.edu	37	22	19839076	19839076	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:19839076C>T	uc002zqg.2	-	2	1308	c.709G>A	c.(709-711)GCC>ACC	p.A237T	GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqe.1_Intron|GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.2_Missense_Mutation_p.A237T|C22orf29_uc002zqi.2_Missense_Mutation_p.A237T|C22orf29_uc010grt.1_Intron	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN	hypothetical protein LOC79680	237											0	Colorectal(54;0.0993)					GTGGCCATGGCGGCTGGTAAA	0.607												
C22orf29	79680	broad.mit.edu	37	22	19839620	19839620	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:19839620G>A	uc002zqg.2	-	2	764	c.165C>T	c.(163-165)ACC>ACT	p.T55T	GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqe.1_Intron|GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.2_Silent_p.T55T|C22orf29_uc002zqi.2_Silent_p.T55T|C22orf29_uc010grt.1_Intron	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN	hypothetical protein LOC79680	55											0	Colorectal(54;0.0993)					GCACACACACGGTGTCCCCAC	0.612												
ZDHHC8	29801	broad.mit.edu	37	22	20128528	20128528	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:20128528G>A	uc002zrq.2	+	7	993	c.887G>A	c.(886-888)CGT>CAT	p.R296H	ZDHHC8_uc002zrr.1_Missense_Mutation_p.R296H|ZDHHC8_uc010gsa.2_Missense_Mutation_p.R102H	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	296	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					GGCCTGGGCCGTAGCAAGGTG	0.622												
RTN4R	65078	broad.mit.edu	37	22	20229616	20229616	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:20229616A>G	uc002zrv.2	-	2	1241	c.1040T>C	c.(1039-1041)CTG>CCG	p.L347P	RTN4R_uc002zru.2_Missense_Mutation_p.L119P	NM_023004	NP_075380	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor precursor	347					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)					TCCAGGCTCCAGTACTGAGGC	0.672												
ZNF74	7625	broad.mit.edu	37	22	20760748	20760748	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:20760748C>T	uc010gsm.2	+	6	1637	c.1425C>T	c.(1423-1425)AAC>AAT	p.N475N	ZNF74_uc002zsg.2_Silent_p.N404N|ZNF74_uc002zsh.2_Silent_p.N475N|ZNF74_uc002zsi.2_Silent_p.N404N|ZNF74_uc010gsn.2_Silent_p.N404N	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	475	C2H2-type 9.				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)			TCAAGTGCAACGAGTGCGGCA	0.642												
KLHL22	84861	broad.mit.edu	37	22	20796481	20796481	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:20796481C>T	uc002zsl.1	-	7	1893	c.1784G>A	c.(1783-1785)CGC>CAC	p.R595H	KLHL22_uc011ahr.1_Missense_Mutation_p.R452H	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	595					cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GAGCAGGGAGCGGGGCAGGGT	0.642												
MED15	51586	broad.mit.edu	37	22	20929406	20929406	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:20929406A>G	uc002zsp.2	+	9	1239	c.1159A>G	c.(1159-1161)ACG>GCG	p.T387A	MED15_uc002zsq.2_Intron|MED15_uc010gso.2_Intron|MED15_uc002zsr.2_Intron|MED15_uc011ahs.1_Intron|MED15_uc002zss.2_Intron|MED15_uc011ahu.1_Missense_Mutation_p.T113A|MED15_uc002zst.2_Missense_Mutation_p.T3A	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	mediator complex subunit 15 isoform a	387	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			skin(1)	1	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			AAAGATGATCACGGAAGCCTT	0.577												
SLC7A4	6545	broad.mit.edu	37	22	21385960	21385960	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:21385960C>A	uc002zud.2	-	2	210	c.142G>T	c.(142-144)GGT>TGT	p.G48C	SLC7A4_uc002zue.2_Missense_Mutation_p.G48C	NM_004173	NP_004164	O43246	CTR4_HUMAN	solute carrier family 7 (cationic amino acid	48	Helical; (Potential).				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)	ACCATGCCACCCACGCCCAGA	0.657												
ZNF280A	129025	broad.mit.edu	37	22	22869868	22869868	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:22869868A>T	uc002zwe.2	-	2	340	c.87T>A	c.(85-87)GAT>GAA	p.D29E	LOC96610_uc011aim.1_Intron	NM_080740	NP_542778	P59817	Z280A_HUMAN	zinc finger protein 280A	29					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)		TCAGATCTGGATCTTCATCAT	0.368												
CABIN1	23523	broad.mit.edu	37	22	24573539	24573539	+	Silent	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:24573539C>A	uc002zzi.1	+	36	6400	c.6273C>A	c.(6271-6273)CCC>CCA	p.P2091P	CABIN1_uc002zzj.1_Silent_p.P2012P|CABIN1_uc002zzl.1_Silent_p.P2091P|CABIN1_uc010gul.1_Silent_p.P29P	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2091					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						AGACTCAGCCCCTGAGCTCTC	0.647												
C22orf13	83606	broad.mit.edu	37	22	24939903	24939903	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:24939903G>A	uc003aah.2	-	5	851	c.535C>T	c.(535-537)CGC>TGC	p.R179C	C22orf13_uc003aal.2_Missense_Mutation_p.R235C|C22orf13_uc003aai.3_Missense_Mutation_p.R136C|C22orf13_uc003aaj.3_Missense_Mutation_p.R179C|C22orf13_uc003aak.3_Missense_Mutation_p.R235C	NM_031444	NP_113632	Q96NT3	CV013_HUMAN	chromosome 22 open reading frame 13	179											0						TCAGGAGTGCGGCAGAAGCAG	0.617												
SGSM1	129049	broad.mit.edu	37	22	25246318	25246318	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:25246318C>T	uc003abg.2	+	5	531	c.374C>T	c.(373-375)GCC>GTC	p.A125V	SGSM1_uc003abh.2_Missense_Mutation_p.A125V|SGSM1_uc010guu.1_Missense_Mutation_p.A125V|SGSM1_uc003abj.2_Missense_Mutation_p.A125V|SGSM1_uc003abi.1_Missense_Mutation_p.A100V|SGSM1_uc003abf.2_Missense_Mutation_p.A125V	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	125	RUN.					Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5						TCCCCACTTGCCATCAAGCAT	0.448											OREG0026418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SGSM1	129049	broad.mit.edu	37	22	25264717	25264717	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:25264717C>T	uc003abg.2	+	12	1343	c.1186C>T	c.(1186-1188)CGA>TGA	p.R396*	SGSM1_uc003abh.2_Nonsense_Mutation_p.R396*|SGSM1_uc010guu.1_Nonsense_Mutation_p.R396*|SGSM1_uc003abj.2_Nonsense_Mutation_p.R396*|SGSM1_uc003abi.1_Nonsense_Mutation_p.R371*	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	396						Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5						ACTGCGCAAGCGAAGCCCTCA	0.502												
ADRBK2	157	broad.mit.edu	37	22	26091137	26091137	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:26091137C>T	uc003abx.3	+	13	1263	c.1116C>T	c.(1114-1116)GCC>GCT	p.A372A	ADRBK2_uc010gux.2_Silent_p.A372A|ADRBK2_uc003abw.2_Silent_p.A259A|ADRBK2_uc003aby.3_RNA	NM_005160	NP_005151	P35626	ARBK2_HUMAN	beta-adrenergic receptor kinase 2	372	Protein kinase.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7					Adenosine triphosphate(DB00171)	ACAGCAGTGCCGACTGGTTCT	0.532												
EIF4ENIF1	56478	broad.mit.edu	37	22	31850237	31850237	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:31850237C>T	uc003akz.1	-	10	1569	c.1405G>A	c.(1405-1407)GTA>ATA	p.V469I	EIF4ENIF1_uc003akx.1_Missense_Mutation_p.V148I|EIF4ENIF1_uc003aky.1_Missense_Mutation_p.V148I|EIF4ENIF1_uc003ala.1_Missense_Mutation_p.V469I|EIF4ENIF1_uc003alb.1_Missense_Mutation_p.V306I|EIF4ENIF1_uc003akw.1_5'Flank	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E	469						nucleus	protein binding|protein transporter activity			ovary(1)	1						TTGTTGGTTACGGCACTCAAG	0.493												
MYH9	4627	broad.mit.edu	37	22	36696961	36696961	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:36696961T>A	uc003apg.2	-	22	3005	c.2774A>T	c.(2773-2775)GAG>GTG	p.E925V	MYH9_uc003aph.1_Missense_Mutation_p.E789V	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	925	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						CTCCTCCTCCTCCACCCTGGC	0.647			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated			
GGA1	26088	broad.mit.edu	37	22	38026101	38026101	+	Missense_Mutation	SNP	G	G	A	rs150957887		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:38026101G>A	uc003atc.2	+	13	1620	c.1255G>A	c.(1255-1257)GGT>AGT	p.G419S	GGA1_uc003atd.2_Missense_Mutation_p.G332S|GGA1_uc003ate.2_Missense_Mutation_p.G419S|GGA1_uc003atf.2_Missense_Mutation_p.G346S	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN	golgi associated, gamma adaptin ear containing,	419	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|ovary(1)	3	Melanoma(58;0.0574)					AGCAAGCAGCGGTCTGGACGA	0.672												
SH3BP1	23616	broad.mit.edu	37	22	38039705	38039705	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:38039705G>A	uc003ati.2	+	7	639	c.528G>A	c.(526-528)CCG>CCA	p.P176P	SH3BP1_uc003atg.1_RNA|SH3BP1_uc011anl.1_Silent_p.P176P|SH3BP1_uc003ath.1_Silent_p.P176P|SH3BP1_uc003atj.1_Silent_p.P112P|SH3BP1_uc003atk.1_Silent_p.P90P|uc003atl.1_RNA	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	176	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					GAGGCAGCCCGGGTAGTCACA	0.582											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SMCR7L	54471	broad.mit.edu	37	22	39910152	39910152	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:39910152G>A	uc003axx.2	+	6	1714	c.1216G>A	c.(1216-1218)GAC>AAC	p.D406N	SMCR7L_uc003axw.2_Missense_Mutation_p.D406N|SMCR7L_uc010gxz.1_Missense_Mutation_p.D228N|SMCR7L_uc003axy.2_Missense_Mutation_p.D228N	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	hypothetical protein LOC54471	406						integral to membrane|mitochondrion				central_nervous_system(1)	1	Melanoma(58;0.04)					TATGCTGGCCGACCGTTTCCT	0.592											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MKL1	57591	broad.mit.edu	37	22	40807697	40807697	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:40807697A>G	uc003ayv.1	-	12	2700	c.2493T>C	c.(2491-2493)CAT>CAC	p.H831H	MKL1_uc003ayw.1_Silent_p.H831H|MKL1_uc010gye.1_3'UTR|MKL1_uc010gyf.1_Silent_p.H781H	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein	831					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			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						CTGGCCCGTCATGCCCACTGG	0.672			T	RBM15	acute megakaryocytic leukemia							
EP300	2033	broad.mit.edu	37	22	41513716	41513716	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:41513716A>G	uc003azl.3	+	2	1015	c.620A>G	c.(619-621)TAC>TGC	p.Y207C		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	207					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						AATATGCAGTACCCAAACCCA	0.537			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome			
EP300	2033	broad.mit.edu	37	22	41523693	41523693	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:41523693G>A	uc003azl.3	+	4	1504	c.1109G>A	c.(1108-1110)CGC>CAC	p.R370H		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	370	TAZ-type 1.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						CCCCACTGTCGCACAATGAAG	0.517			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome			
PARVB	29780	broad.mit.edu	37	22	44536011	44536011	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:44536011A>G	uc003ben.2	+	8	752	c.700A>G	c.(700-702)ATG>GTG	p.M234V	PARVB_uc003bem.2_Missense_Mutation_p.M267V|PARVB_uc010gzn.2_Missense_Mutation_p.M182V|PARVB_uc003beo.2_Missense_Mutation_p.M197V	NM_013327	NP_037459	Q9HBI1	PARVB_HUMAN	parvin, beta isoform b	234					cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding				0		Ovarian(80;0.0246)|all_neural(38;0.0423)				CAGGATGATGATGGGCCGGTT	0.542												
KIAA1644	85352	broad.mit.edu	37	22	44681393	44681393	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:44681393G>A	uc003bet.2	-	4	647	c.514C>T	c.(514-516)CTG>TTG	p.L172L		NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN	hypothetical protein LOC85352 precursor	172	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				GCTTGTGGCAGCGGGCCTGGG	0.687												
BRD1	23774	broad.mit.edu	37	22	50217191	50217191	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:50217191G>A	uc003biv.2	-	1	1262	c.775C>T	c.(775-777)CGC>TGC	p.R259C	BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Missense_Mutation_p.R259C|BRD1_uc011arh.1_Missense_Mutation_p.R259C|BRD1_uc003biu.3_Missense_Mutation_p.R259C	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	259	PHD-type.				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)		AGGCAGTGGCGGCAGAGCCAC	0.642												
ZBED4	9889	broad.mit.edu	37	22	50278153	50278153	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:50278153C>T	uc003bix.2	+	2	1313	c.843C>T	c.(841-843)ACC>ACT	p.T281T		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	281						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)		CAAAGAGCACCTCTGGGTCCA	0.557												
TTLL8	164714	broad.mit.edu	37	22	50487735	50487735	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:50487735T>G	uc011ark.1	-	3	207	c.207A>C	c.(205-207)AAA>AAC	p.K69N		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)		TTTCTTTGACTTTGGCACATG	0.532												
TUBGCP6	85378	broad.mit.edu	37	22	50671772	50671772	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:50671772G>A	uc003bkb.1	-	3	1601	c.1089C>T	c.(1087-1089)GTC>GTT	p.V363V	TUBGCP6_uc010har.1_Silent_p.V363V|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	363					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGGCAGACACGACCCCAATCA	0.642												
ITPR1	3708	broad.mit.edu	37	3	4856237	4856237	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:4856237G>A	uc003bqa.2	+	55	7896	c.7548G>A	c.(7546-7548)CCG>CCA	p.P2516P	ITPR1_uc010hca.1_Silent_p.P2501P|ITPR1_uc011asu.1_Silent_p.P527P|ITPR1_uc003bqc.2_Silent_p.P1486P|ITPR1_uc010hcc.1_Silent_p.P284P|ITPR1_uc011asv.1_Silent_p.P240P	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	2564	Lumenal (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TCAGGAAGCCGTCCAAAGAGG	0.562												
GRM7	2917	broad.mit.edu	37	3	7620434	7620434	+	Missense_Mutation	SNP	G	G	A	rs150165030	by1000genomes	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:7620434G>A	uc003bqm.2	+	8	2115	c.1841G>A	c.(1840-1842)CGC>CAC	p.R614H	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.R614H|GRM7_uc003bql.2_Missense_Mutation_p.R614H|GRM7_uc003bqn.1_Missense_Mutation_p.R197H|GRM7_uc010hch.1_Missense_Mutation_p.R125H	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	614	Helical; Name=1; (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)	ACTTTCATCCGCTACAATGAC	0.502												
C3orf32	51066	broad.mit.edu	37	3	8669394	8669394	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:8669394C>T	uc003bqu.2	-	8	844	c.598G>A	c.(598-600)GGC>AGC	p.G200S	C3orf32_uc003bqz.2_Missense_Mutation_p.G200S|C3orf32_uc003bqt.2_Missense_Mutation_p.G149S|C3orf32_uc011atg.1_Missense_Mutation_p.G222S|C3orf32_uc003bqv.2_Missense_Mutation_p.G149S|C3orf32_uc003bqw.2_RNA|C3orf32_uc003bqx.2_RNA|C3orf32_uc003bqy.2_Missense_Mutation_p.G200S	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	hypothetical protein LOC51066	200	Cys-rich.									skin(1)	1						CTTCGCCTGCCGGACCCCGCG	0.592												
BRPF1	7862	broad.mit.edu	37	3	9784848	9784848	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:9784848A>G	uc003bse.2	+	7	2603	c.2204A>G	c.(2203-2205)CAG>CGG	p.Q735R	BRPF1_uc003bsf.2_Missense_Mutation_p.Q741R|BRPF1_uc003bsg.2_Missense_Mutation_p.Q735R|BRPF1_uc011ati.1_Missense_Mutation_p.Q735R	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	735	Required for RUNX1 and RUNX2 transcriptional activation.|Interaction with MEAF6 and ING5.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					GCCCGGCGCCAGGCAGAAAAA	0.582												
CRELD1	78987	broad.mit.edu	37	3	9986201	9986201	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:9986201A>G	uc003bug.2	+	11	1319	c.1201A>G	c.(1201-1203)ACT>GCT	p.T401A	CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_3'UTR|CRELD1_uc003buh.2_Missense_Mutation_p.T401A|CRELD1_uc003bui.2_Missense_Mutation_p.T401A|CRELD1_uc003buj.2_RNA	NM_001077415	NP_001070883	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1 isoform 3	401	Helical; (Potential).				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			ovary(1)	1						GGCGGCCATGACTGGCTACTG	0.597												
NUP210	23225	broad.mit.edu	37	3	13372050	13372050	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:13372050T>C	uc003bxv.1	-	30	4103	c.4020A>G	c.(4018-4020)CTA>CTG	p.L1340L		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1340	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					ACCCTGATGCTAGAAAGCCTT	0.502												
XPC	7508	broad.mit.edu	37	3	14199997	14199997	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:14199997A>G	uc011ave.1	-	9	1490	c.1386T>C	c.(1384-1386)CCT>CCC	p.P462P	XPC_uc011avf.1_Silent_p.P269P|XPC_uc011avg.1_Silent_p.P425P	NM_004628	NP_004619	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	462					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			ovary(2)|breast(1)	3						TTGGAGGGCCAGGTTCGGAAT	0.572			Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		NER	Xeroderma_Pigmentosum			
GALNTL2	117248	broad.mit.edu	37	3	16254150	16254150	+	Silent	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:16254150C>A	uc003car.3	+	6	1747	c.1272C>A	c.(1270-1272)TCC>TCA	p.S424S	GALNTL2_uc003caq.3_Silent_p.S157S	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	424	Lumenal (Potential).					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1						ATCAGGATTCCCATTCCCCCC	0.542												
PLCL2	23228	broad.mit.edu	37	3	17052707	17052707	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:17052707C>T	uc011awc.1	+	5	1950	c.1845C>T	c.(1843-1845)AGC>AGT	p.S615S	PLCL2_uc011awd.1_Silent_p.S497S	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2 isoform 1	623	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(2)|ovary(1)|lung(1)	4						AACTGGTCAGCATCTGCAAAT	0.433												
TBC1D5	9779	broad.mit.edu	37	3	17415970	17415970	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:17415970C>T	uc003cbf.2	-	12	2480	c.815G>A	c.(814-816)GGT>GAT	p.G272D	TBC1D5_uc010hev.2_Missense_Mutation_p.G272D|TBC1D5_uc003cbe.2_Missense_Mutation_p.G272D|TBC1D5_uc010hew.1_Missense_Mutation_p.G224D	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	272	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						TACCTTCTGACCATCATGCTC	0.318												
RARB	5915	broad.mit.edu	37	3	25622154	25622154	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:25622154A>G	uc011awl.1	+	5	814	c.748A>G	c.(748-750)ACT>GCT	p.T250A	RARB_uc003cdi.1_Missense_Mutation_p.T131A|RARB_uc003cdh.2_Missense_Mutation_p.T243A	NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	250	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|large_intestine(1)|pancreas(1)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GCCTGGTTTCACTGGCTTGAC	0.537												
EOMES	8320	broad.mit.edu	37	3	27759084	27759084	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:27759084T>C	uc003cdx.2	-	6	1538	c.1538A>G	c.(1537-1539)AAC>AGC	p.N513S	EOMES_uc003cdy.3_Missense_Mutation_p.N532S|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Missense_Mutation_p.N237S	NM_005442	NP_005433	O95936	EOMES_HUMAN	eomesodermin	513					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|breast(1)	4						CTGGGGAGGGTTGGCCACCTC	0.517												
CMTM7	112616	broad.mit.edu	37	3	32493946	32493946	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:32493946G>A	uc003cey.1	+	4	731	c.495G>A	c.(493-495)TCG>TCA	p.S165S	CMTM7_uc003cez.1_Silent_p.S132S	NM_138410	NP_612419	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing	165	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity				0						ATAAGATCTCGTGTGTAACCC	0.507												
CCR4	1233	broad.mit.edu	37	3	32995805	32995805	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:32995805C>T	uc003cfg.1	+	2	1059	c.891C>T	c.(889-891)TGC>TGT	p.C297C		NM_005508	NP_005499	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	297	Helical; Name=7; (Potential).				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				lung(1)	1						TTGTTCACTGCTGCCTTAATC	0.473												
MLH1	4292	broad.mit.edu	37	3	37092047	37092047	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:37092047G>A	uc003cgl.2	+	19	2234	c.2174G>A	c.(2173-2175)CGC>CAC	p.R725H	MLH1_uc011aye.1_Intron|MLH1_uc011ayb.1_Missense_Mutation_p.R484H|MLH1_uc010hge.2_Missense_Mutation_p.R656H|MLH1_uc003cgn.3_Missense_Mutation_p.R484H|MLH1_uc011ayc.1_Missense_Mutation_p.R627H|MLH1_uc011ayd.1_Missense_Mutation_p.R484H|MLH1_uc003cgo.2_Missense_Mutation_p.R484H|MLH1_uc010hgk.2_Missense_Mutation_p.R312H|MLH1_uc010hgn.2_Missense_Mutation_p.A222T|MLH1_uc010hgm.2_RNA|MLH1_uc010hgo.2_3'UTR|MLH1_uc010hgp.2_Missense_Mutation_p.R108H|MLH1_uc010hgq.2_RNA	NM_000249	NP_000240	P40692	MLH1_HUMAN	MutL protein homolog 1	725					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77						AAAGCCTTGCGCTCACACATT	0.433		1	D|Mis|N|F|S		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome			
MYD88	4615	broad.mit.edu	37	3	38182330	38182330	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:38182330C>T	uc003chx.2	+	4	974	c.790C>T	c.(790-792)CTC>TTC	p.L264F	MYD88_uc011ayi.1_Missense_Mutation_p.L256F|MYD88_uc011ayj.1_Silent_p.A195A|MYD88_uc011ayk.1_Silent_p.A150A|MYD88_uc011ayl.1_Missense_Mutation_p.L211F	NM_002468	NP_002459	Q99836	MYD88_HUMAN	myeloid differentiation primary response gene	243	TIR.				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(93)|breast(1)	94				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGCACTCAGCCTCTCTCCAGG	0.557			Mis 		ABC-DLBCL							
EXOG	9941	broad.mit.edu	37	3	38565416	38565416	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:38565416G>A	uc003cih.2	+	6	766	c.670G>A	c.(670-672)GTC>ATC	p.V224I	EXOG_uc010hhg.2_RNA|EXOG_uc011ayq.1_Missense_Mutation_p.V174I|EXOG_uc003cij.2_Missense_Mutation_p.V84I|EXOG_uc010hhd.2_Missense_Mutation_p.V84I|EXOG_uc010hhe.2_Missense_Mutation_p.V84I|EXOG_uc003cik.2_Missense_Mutation_p.V84I|EXOG_uc010hhf.2_Missense_Mutation_p.V84I|EXOG_uc003cii.2_Missense_Mutation_p.V84I	NM_005107	NP_005098	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	224						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding				0						CAACGTGGCAGTCCCCTCACA	0.463												
SCN11A	11280	broad.mit.edu	37	3	38936340	38936340	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:38936340C>T	uc011ays.1	-	15	2718	c.2519G>A	c.(2518-2520)CGC>CAC	p.R840H	SCN11A_uc010hhn.1_5'UTR	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	840					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)	AAAAGCCCGGCGGAATCGATC	0.453												
WDR48	57599	broad.mit.edu	37	3	39119656	39119656	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:39119656C>T	uc003cit.2	+	10	1011	c.1001C>T	c.(1000-1002)GCC>GTC	p.A334V	WDR48_uc011ayt.1_Missense_Mutation_p.A325V|WDR48_uc011ayu.1_Missense_Mutation_p.A252V|WDR48_uc011ayv.1_Intron|WDR48_uc003ciu.2_RNA	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	334	WD 7.				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			ovary(1)|breast(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AATTTTAGAGCCTCTGGAGAT	0.353												
CX3CR1	1524	broad.mit.edu	37	3	39307048	39307048	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:39307048C>T	uc003cjl.2	-	2	1045	c.953G>A	c.(952-954)CGC>CAC	p.R318H		NM_001337	NP_001328	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	318	Cytoplasmic (Potential).				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			lung(3)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GTGGACTGAGCGCCCACACAG	0.478												
ZNF445	353274	broad.mit.edu	37	3	44489280	44489280	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:44489280G>A	uc003cnf.2	-	8	2231	c.1883C>T	c.(1882-1884)ACC>ATC	p.T628I	ZNF445_uc011azv.1_Missense_Mutation_p.T616I|ZNF445_uc011azw.1_Missense_Mutation_p.T628I	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	628	C2H2-type 5.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CCTACATTTGGTACATTTATA	0.403												
LARS2	23395	broad.mit.edu	37	3	45527238	45527238	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:45527238T>A	uc003cop.1	+	11	1258	c.1073T>A	c.(1072-1074)GTC>GAC	p.V358D	LARS2_uc010hit.1_Missense_Mutation_p.V315D	NM_015340	NP_056155	Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	358					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	GAGGTCCCTGTCGTTATTTTG	0.433												
ALS2CL	259173	broad.mit.edu	37	3	46718370	46718370	+	Missense_Mutation	SNP	G	G	A	rs140829916	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:46718370G>A	uc003cqa.1	-	17	2090	c.1900C>T	c.(1900-1902)CGT>TGT	p.R634C	ALS2CL_uc003cpx.1_5'UTR|ALS2CL_uc003cpy.1_RNA|ALS2CL_uc003cpz.1_Missense_Mutation_p.R149C|ALS2CL_uc003cqb.1_Missense_Mutation_p.R634C|ALS2CL_uc003cqc.1_RNA	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like isoform 1	634					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TGAGACCTACGCAGCTCCCTG	0.662												
PRSS45	377047	broad.mit.edu	37	3	46783906	46783906	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:46783906T>C	uc010hjl.2	-	4	621	c.621A>G	c.(619-621)TCA>TCG	p.S207S	PRSS45_uc011bam.1_RNA	NM_199183	NP_954652	Q7RTY3	PRS45_HUMAN	testis serine protease 5	239					proteolysis		serine-type endopeptidase activity				0						CACAGGGACCTGAGAAGGCTC	0.567												
SMARCC1	6599	broad.mit.edu	37	3	47719763	47719763	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:47719763C>T	uc003crq.2	-	16	1614	c.1496G>A	c.(1495-1497)CGT>CAT	p.R499H	SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Missense_Mutation_p.R390H	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	499	SWIRM.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	p.R499C(1)		skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		GGGGTTTAGACGATACGTGTC	0.383												
ZNF589	51385	broad.mit.edu	37	3	48302376	48302376	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:48302376G>T	uc003csl.3	+	3	236	c.170G>T	c.(169-171)AGG>ATG	p.R57M	ZNF589_uc010hjt.1_Missense_Mutation_p.R55M|ZNF589_uc003csn.2_RNA|ZNF589_uc011bbg.1_Missense_Mutation_p.R57M|ZNF589_uc003csm.2_RNA	NM_016089	NP_057173	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	57	KRAB.				regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTGAGCAGAGGAACCTATAC	0.388												
NDUFAF3	25915	broad.mit.edu	37	3	49059972	49059972	+	Splice_Site	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:49059972G>A	uc003cvq.2	+	2	774	c.270_splice	c.e2+1	p.N90_splice	DALRD3_uc003cvm.1_5'Flank|DALRD3_uc010hko.1_5'Flank|uc011bcb.1_5'Flank|MIR425_hsa-mir-425|MI0001448_5'Flank|NDUFAF3_uc003cvn.2_Splice_Site_p.N33_splice|uc003cvo.1_5'Flank|MIR191_hsa-mir-191|MI0000465_5'Flank|NDUFAF3_uc003cvp.2_Splice_Site_p.N33_splice|NDUFAF3_uc003cvr.2_Splice_Site_p.N33_splice|NDUFAF3_uc003cvs.2_Splice_Site_p.N33_splice	NM_199069	NP_951032	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha						mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding				0						GCAGTGGAACGTGAGTCCTGG	0.602												
USP19	10869	broad.mit.edu	37	3	49149019	49149019	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:49149019G>T	uc003cwd.1	-	20	2983	c.2822C>A	c.(2821-2823)ACC>AAC	p.T941N	USP19_uc003cwa.2_Missense_Mutation_p.T749N|USP19_uc003cvz.3_Missense_Mutation_p.T1044N|USP19_uc011bcg.1_Missense_Mutation_p.T1032N|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Missense_Mutation_p.T699N|USP19_uc011bch.1_Missense_Mutation_p.T1042N	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	941	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)		AATTCCACTGGTGCTGGGCAC	0.632												
MST1R	4486	broad.mit.edu	37	3	49933705	49933705	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:49933705G>A	uc003cxy.3	-	10	2836	c.2572C>T	c.(2572-2574)CGC>TGC	p.R858C	MST1R_uc011bdd.1_Missense_Mutation_p.R859C|MST1R_uc011bdc.1_5'UTR	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	858	IPT/TIG 3.|Extracellular (Potential).				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GGTAGGAAGCGAAAGCCAGGC	0.582												
NAT6	24142	broad.mit.edu	37	3	50334066	50334066	+	Missense_Mutation	SNP	G	G	A	rs74426485	by1000genomes	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:50334066G>A	uc003czi.2	-	2	932	c.829C>T	c.(829-831)CGC>TGC	p.R277C	HYAL3_uc003czc.1_Intron|HYAL3_uc003czd.1_Intron|HYAL3_uc003cze.1_Intron|HYAL3_uc003czf.1_Intron|HYAL3_uc003czg.1_Intron|NAT6_uc003czj.2_Missense_Mutation_p.R299C|NAT6_uc003czk.3_Missense_Mutation_p.R277C|NAT6_uc003czl.1_Missense_Mutation_p.R277C	NM_012191	NP_036323	Q93015	NAT6_HUMAN	N-acetyltransferase 6	277						cytoplasm	N-acetyltransferase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AATATGGGGCGCCCCCTCACA	0.547												
RASSF1	11186	broad.mit.edu	37	3	50369149	50369149	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:50369149G>A	uc003dad.1	-	4	744	c.613C>T	c.(613-615)CGC>TGC	p.R205C	RASSF1_uc003daa.1_Missense_Mutation_p.R50C|RASSF1_uc003dab.1_Missense_Mutation_p.R131C|RASSF1_uc003dac.2_Missense_Mutation_p.R50C|RASSF1_uc003dae.1_Missense_Mutation_p.R201C|RASSF1_uc010hlk.1_RNA|RASSF1_uc003daf.1_Missense_Mutation_p.R50C	NM_170714	NP_733832	Q9NS23	RASF1_HUMAN	Ras association domain family 1 isoform D	205	Ras-associating.				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AAGGAAGTGCGGCGCCTGACA	0.617												
GRM2	2912	broad.mit.edu	37	3	51746888	51746888	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:51746888C>T	uc010hlv.2	+	3	1089	c.850C>T	c.(850-852)CGC>TGC	p.R284C	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	284	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	TGCCAGCCAGCGCCTCAATGC	0.657												
ABHD14A	25864	broad.mit.edu	37	3	52014951	52014951	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:52014951C>T	uc003dco.2	+	5	843	c.733C>T	c.(733-735)CGC>TGC	p.R245C	ABHD14B_uc003dcn.2_Intron|ACY1_uc011bea.1_Intron|ACY1_uc011beb.1_5'Flank|ACY1_uc003dcp.2_5'Flank|ACY1_uc003dcq.2_5'Flank	NM_015407	NP_056222	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	245						cytoplasm|integral to membrane	hydrolase activity				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGTGAAGCTACGCAATGCAGG	0.572												
DNAH1	25981	broad.mit.edu	37	3	52400871	52400871	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:52400871G>A	uc011bef.1	+	36	5994	c.5733G>A	c.(5731-5733)CTG>CTA	p.L1911L		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1911	AAA 2 (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)		TGGGCCAGCTGTACGGGGAGT	0.612												
BAP1	8314	broad.mit.edu	37	3	52437234	52437234	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:52437234C>T	uc003ddx.2	-	14	1925	c.1810G>A	c.(1810-1812)GTG>ATG	p.V604M	BAP1_uc003ddw.2_RNA|BAP1_uc010hmg.2_RNA|BAP1_uc010hmh.2_Intron	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	604	Interaction with BRCA1.				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GTGGCTTCCACGACCTCCTTC	0.607			N|Mis|F|S|O		uveal melanoma|breast|NSCLC							
GLT8D1	55830	broad.mit.edu	37	3	52729486	52729486	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:52729486G>A	uc003dfi.3	-	8	902	c.763C>T	c.(763-765)CGA>TGA	p.R255*	GLT8D1_uc003dfj.2_Nonsense_Mutation_p.R255*|GLT8D1_uc003dfk.2_Nonsense_Mutation_p.R255*|GLT8D1_uc003dfl.2_Nonsense_Mutation_p.R255*|GLT8D1_uc003dfm.2_Nonsense_Mutation_p.R255*|GLT8D1_uc003dfn.2_Nonsense_Mutation_p.R255*|GLT8D1_uc003dfo.1_Nonsense_Mutation_p.R255*	NM_152932	NP_690909	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	255	Lumenal (Potential).					integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups				0				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ATATTCTGTCGTTTCCATTCC	0.363												
ITIH4	3700	broad.mit.edu	37	3	52858944	52858944	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:52858944C>T	uc003dfz.2	-	7	826	c.790G>A	c.(790-792)GCC>ACC	p.A264T	ITIH4_uc011bel.1_5'UTR|ITIH4_uc003dfy.2_Missense_Mutation_p.A128T|ITIH4_uc011bem.1_Missense_Mutation_p.A264T|ITIH4_uc011ben.1_Missense_Mutation_p.A264T	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4	264					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CCCTCGGGGGCAAAGTAGTGT	0.542												
IL17RD	54756	broad.mit.edu	37	3	57132279	57132279	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:57132279G>T	uc003dil.2	-	12	1541	c.1452C>A	c.(1450-1452)TGC>TGA	p.C484*	IL17RD_uc003dik.2_Nonsense_Mutation_p.C460*|IL17RD_uc010hna.2_Nonsense_Mutation_p.C340*|IL17RD_uc011bex.1_Nonsense_Mutation_p.C340*	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D precursor	484	SEFIR.|Cytoplasmic (Potential).					Golgi membrane|integral to membrane|plasma membrane	receptor activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		CGTCTCCCTCGCAGGAATAAT	0.572												
PTPRG	5793	broad.mit.edu	37	3	62253473	62253473	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:62253473G>A	uc003dlb.2	+	19	3572	c.2853G>A	c.(2851-2853)ACG>ACA	p.T951T	PTPRG_uc003dlc.2_Silent_p.T922T|PTPRG_uc011bfi.1_Silent_p.T197T|uc010hno.2_Intron|uc003dld.3_Intron|uc010hnp.2_Intron|uc003dle.3_Intron	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	951	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TGATGATTACGAACCTTGTGG	0.398												
FEZF2	55079	broad.mit.edu	37	3	62355818	62355818	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:62355818G>A	uc003dlh.2	-	4	1527	c.1320C>T	c.(1318-1320)CAC>CAT	p.H440H	FEZF2_uc003dli.2_Silent_p.H440H	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	440	C2H2-type 6.				transcription, DNA-dependent	nucleus	zinc ion binding			lung(1)	1		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		CCACGCTGTCGTGGAGTTTGC	0.552												
SYNPR	132204	broad.mit.edu	37	3	63466538	63466538	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:63466538G>A	uc003dlq.2	+	2	424	c.55G>A	c.(55-57)GGT>AGT	p.G19S	SYNPR_uc003dlp.2_Missense_Mutation_p.G39S|SYNPR_uc011bfk.1_Intron|SYNPR_uc011bfl.1_RNA|SYNPR_uc010hnt.2_Missense_Mutation_p.G28S|SYNPR_uc011bfm.1_RNA	NM_144642	NP_653243	Q8TBG9	SYNPR_HUMAN	synaptoporin isoform 2	19	MARVEL.|Helical; (Potential).					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		TGCAACATGCGGTGGCTATTC	0.438												
ADAMTS9	56999	broad.mit.edu	37	3	64547403	64547403	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:64547403C>T	uc003dmg.2	-	30	4581	c.4549G>A	c.(4549-4551)GTA>ATA	p.V1517I	ADAMTS9_uc011bfo.1_Missense_Mutation_p.V1489I|ADAMTS9_uc003dmh.1_Missense_Mutation_p.V1346I|ADAMTS9_uc011bfp.1_Missense_Mutation_p.V428I|uc003dmi.1_RNA	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1517	TSP type-1 12.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTCTGCTGTACGCCTCGGCCA	0.567												
LMOD3	56203	broad.mit.edu	37	3	69167997	69167997	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:69167997T>C	uc003dns.2	-	2	1718	c.1509A>G	c.(1507-1509)AGA>AGG	p.R503R	LMOD3_uc003dnt.2_Silent_p.R503R	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	503						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)		CGGGTGGTTCTCTGGCTTCCG	0.547												
OR5H2	79310	broad.mit.edu	37	3	98001806	98001806	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:98001806G>A	uc003dsj.1	+	1	75	c.75G>A	c.(73-75)CAG>CAA	p.Q25Q		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H,	25	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3						TTACATATCAGCCAGAGTGGA	0.423												
CEP97	79598	broad.mit.edu	37	3	101451389	101451389	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:101451389T>C	uc003dvk.1	+	6	646	c.619T>C	c.(619-621)TGT>CGT	p.C207R	CEP97_uc010hpm.1_Missense_Mutation_p.C173R|CEP97_uc011bhf.1_Missense_Mutation_p.C207R|CEP97_uc003dvl.1_5'UTR|CEP97_uc003dvm.1_Missense_Mutation_p.C45R	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	207						centrosome|nucleus	protein binding			ovary(2)	2						GAACAATCCTTGTGTGATGGC	0.413												
CD96	10225	broad.mit.edu	37	3	111319601	111319601	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:111319601A>G	uc003dxw.2	+	8	1145	c.975A>G	c.(973-975)AAA>AAG	p.K325K	CD96_uc003dxv.2_Silent_p.K309K|CD96_uc003dxx.2_Silent_p.K309K|CD96_uc010hpy.1_Silent_p.K309K	NM_198196	NP_937839	P40200	TACT_HUMAN	CD96 antigen isoform 1 precursor	325	Extracellular (Potential).|Ig-like C2-type.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				skin(2)|central_nervous_system(1)	3						AAGAGAGAAAAGGCAAAGATG	0.373									Opitz_Trigonocephaly_syndrome			
BOC	91653	broad.mit.edu	37	3	112999994	112999994	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:112999994A>G	uc003dzx.2	+	15	3046	c.2425A>G	c.(2425-2427)ACC>GCC	p.T809A	BOC_uc003dzy.2_Missense_Mutation_p.T809A|BOC_uc003dzz.2_Missense_Mutation_p.T810A|BOC_uc003eab.2_Missense_Mutation_p.T510A|BOC_uc003eac.2_Missense_Mutation_p.T124A	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	809	Fibronectin type-III 3.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			GATCTGTGAGACCAAAGGTGA	0.547												
GRAMD1C	54762	broad.mit.edu	37	3	113627946	113627946	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:113627946A>G	uc003eaq.3	+	9	1007	c.931A>G	c.(931-933)ACT>GCT	p.T311A	GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA|GRAMD1C_uc003ear.2_Missense_Mutation_p.T144A|GRAMD1C_uc003eas.2_Missense_Mutation_p.T106A	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	311						integral to membrane				ovary(2)|skin(1)	3						CAAAAGCAGCACTTCAGATTC	0.299												
ZBTB20	26137	broad.mit.edu	37	3	114069597	114069597	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:114069597C>T	uc003ebi.2	-	4	1508	c.1328G>A	c.(1327-1329)AGC>AAC	p.S443N	ZBTB20_uc003ebj.2_Missense_Mutation_p.S370N|ZBTB20_uc010hqp.2_Missense_Mutation_p.S370N|ZBTB20_uc003ebk.2_Missense_Mutation_p.S370N|ZBTB20_uc003ebl.2_Missense_Mutation_p.S370N|ZBTB20_uc003ebm.2_Missense_Mutation_p.S370N|ZBTB20_uc003ebn.2_Missense_Mutation_p.S370N|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GATAACAGTGCTGTCCATCTC	0.567												
ZBTB20	26137	broad.mit.edu	37	3	114070442	114070442	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:114070442G>A	uc003ebi.2	-	4	663	c.483C>T	c.(481-483)GGC>GGT	p.G161G	ZBTB20_uc003ebj.2_Silent_p.G88G|ZBTB20_uc010hqp.2_Silent_p.G88G|ZBTB20_uc003ebk.2_Silent_p.G88G|ZBTB20_uc003ebl.2_Silent_p.G88G|ZBTB20_uc003ebm.2_Silent_p.G88G|ZBTB20_uc003ebn.2_Silent_p.G88G|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	161	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CCCGTAGCACGCCGCTGTACA	0.567												
GAP43	2596	broad.mit.edu	37	3	115395025	115395025	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:115395025G>A	uc003ebq.2	+	2	582	c.196G>A	c.(196-198)GCT>ACT	p.A66T	GAP43_uc003ebr.2_Missense_Mutation_p.A102T	NM_002045	NP_002036	P17677	NEUM_HUMAN	growth associated protein 43 isoform 2	66					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.164)		TGAGGCTGAAGCTAATAAGAA	0.527												
IGSF11	152404	broad.mit.edu	37	3	118621438	118621438	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:118621438C>T	uc003ebw.2	-	7	1472	c.1225G>A	c.(1225-1227)GCA>ACA	p.A409T	IGSF11_uc011biv.1_Missense_Mutation_p.A381T|IGSF11_uc003ebx.2_Missense_Mutation_p.A385T|IGSF11_uc003eby.2_Missense_Mutation_p.A408T|IGSF11_uc003ebz.2_Missense_Mutation_p.A384T|IGSF11_uc010hqs.2_Missense_Mutation_p.A408T	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	409	Cytoplasmic (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0						TCCAGTGTTGCGTGGCTGATG	0.537												
B4GALT4	8702	broad.mit.edu	37	3	118931514	118931514	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:118931514T>C	uc003ecg.2	-	8	1558	c.917A>G	c.(916-918)CAC>CGC	p.H306R	B4GALT4_uc003ece.1_3'UTR|B4GALT4_uc003ecf.2_RNA|B4GALT4_uc003ech.2_Missense_Mutation_p.H306R|B4GALT4_uc003eci.2_Missense_Mutation_p.H306R	NM_212543	NP_997708	O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	306	Lumenal (Potential).				membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity				0				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	TGACACTTGGTGTAAGAGCTT	0.363												
CASR	846	broad.mit.edu	37	3	122003470	122003470	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:122003470G>A	uc003eev.3	+	7	3041	c.2669G>A	c.(2668-2670)CGC>CAC	p.R890H	CASR_uc003eew.3_Missense_Mutation_p.R900H	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	890	Cytoplasmic (Potential).|Interaction with RNF19A.				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCCACGCTGCGCCGCAGCAAC	0.627												
SEMA5B	54437	broad.mit.edu	37	3	122629836	122629836	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:122629836G>A	uc003efz.1	-	22	3452	c.3148C>T	c.(3148-3150)CTC>TTC	p.L1050F	SEMA5B_uc011bju.1_Missense_Mutation_p.L956F|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.L1050F|SEMA5B_uc003efy.1_Missense_Mutation_p.L28F	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	1050	Helical; Signal-anchor for type III membrane protein; (Potential).				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		AGGGTCAGGAGCCCAGAGCCC	0.577												
KALRN	8997	broad.mit.edu	37	3	124149556	124149556	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:124149556T>C	uc003ehg.2	+	16	2884	c.2757T>C	c.(2755-2757)AAT>AAC	p.N919N	KALRN_uc010hrv.1_Silent_p.N919N|KALRN_uc003ehf.1_Silent_p.N919N|KALRN_uc011bjy.1_Silent_p.N919N|KALRN_uc003ehh.1_Silent_p.N265N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	919	Spectrin 4.				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						GCCTGGTCAATGCCAGCTCTT	0.567												
KLF15	28999	broad.mit.edu	37	3	126070789	126070789	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:126070789G>T	uc011bkk.1	-	2	1159	c.977C>A	c.(976-978)CCT>CAT	p.P326H		NM_014079	NP_054798	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	326	C2H2-type 1.					nucleus	DNA binding|zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(114;0.147)		GCTGCAGCCAGGGAAAGTACA	0.627												
SEC61A1	29927	broad.mit.edu	37	3	127786377	127786377	+	Silent	SNP	A	A	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:127786377A>T	uc003ekb.2	+	10	1273	c.1089A>T	c.(1087-1089)GTA>GTT	p.V363V	RUVBL1_uc003eke.2_Intron|RUVBL1_uc003ekf.2_Intron|SEC61A1_uc003ekc.2_Silent_p.V310V|SEC61A1_uc003ekd.2_Silent_p.V243V|SEC61A1_uc003ekg.2_Silent_p.V57V	NM_013336	NP_037468	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit	363	Helical; (Potential).				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			ovary(1)	1						ATGCAGTTGTATACATAGTGT	0.493												
MBD4	8930	broad.mit.edu	37	3	129152936	129152936	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:129152936G>A	uc003emh.1	-	4	1421	c.1245C>T	c.(1243-1245)AGC>AGT	p.S415S	MBD4_uc003emi.1_Silent_p.S415S|MBD4_uc003emj.1_Silent_p.S409S|MBD4_uc003emk.1_Silent_p.S97S|MBD4_uc011bkw.1_Silent_p.S415S	NM_003925	NP_003916	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	415					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			ovary(1)|lung(1)	2						AAAAATACAGGCTTGTTTTCC	0.348								BER_DNA_glycosylases				
COL6A6	131873	broad.mit.edu	37	3	130380888	130380888	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:130380888A>G	uc010htl.2	+	34	6269	c.6238A>G	c.(6238-6240)AGA>GGA	p.R2080G	COL6A6_uc003eni.3_Missense_Mutation_p.R179G	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	2080	VWFA 9.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						ACCCAATCTGAGAAGAAACAA	0.408												
PIK3R4	30849	broad.mit.edu	37	3	130422673	130422673	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:130422673G>A	uc003enj.2	-	13	3573	c.2992C>T	c.(2992-2994)CGA>TGA	p.R998*		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	998	WD 1.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						ACTCTAATTCGATTCACAGCA	0.418												
CPNE4	131034	broad.mit.edu	37	3	131283121	131283121	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:131283121G>A	uc003eok.2	-	11	1435	c.1000C>T	c.(1000-1002)CAA>TAA	p.Q334*	CPNE4_uc011blq.1_Nonsense_Mutation_p.Q352*|CPNE4_uc003eol.2_Nonsense_Mutation_p.Q352*|CPNE4_uc003eom.2_Nonsense_Mutation_p.Q334*	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	copine IV	334	VWFA.									upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						TCATTGGGTTGGTAAGGGTGG	0.453												
PPP2R3A	5523	broad.mit.edu	37	3	135721928	135721928	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:135721928C>T	uc003eqv.1	+	2	2153	c.1588C>T	c.(1588-1590)CCA>TCA	p.P530S	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	530					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						TCTAAGAGAGCCACTTGCGAA	0.388												
STAG1	10274	broad.mit.edu	37	3	136059352	136059352	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:136059352T>C	uc003era.1	-	32	3945	c.3653A>G	c.(3652-3654)GAC>GGC	p.D1218G	STAG1_uc003erb.1_Missense_Mutation_p.D1181G	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1218					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						AACCATGGTGTCCTCAAATTC	0.373												
SOX14	8403	broad.mit.edu	37	3	137484306	137484306	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:137484306C>T	uc003erm.1	+	1	728	c.680C>T	c.(679-681)ACT>ATT	p.T227I		NM_004189	NP_004180	O95416	SOX14_HUMAN	SRY-box 14	227					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding				0						ATGACCAAGACTGGCATAGAC	0.642												
COPB2	9276	broad.mit.edu	37	3	139080026	139080026	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:139080026C>T	uc003etf.3	-	17	2237	c.2107G>A	c.(2107-2109)GCC>ACC	p.A703T	COPB2_uc011bmv.1_Missense_Mutation_p.A674T|COPB2_uc010hui.2_Missense_Mutation_p.A674T	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta	703					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(2)	2						GAGGCAGTGGCCAAAAGCAGC	0.483												
ATR	545	broad.mit.edu	37	3	142176461	142176461	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:142176461C>T	uc003eux.3	-	45	7762	c.7640G>A	c.(7639-7641)CGA>CAA	p.R2547Q	ATR_uc003euy.1_Missense_Mutation_p.R433Q	NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	2547	PI3K/PI4K.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						TAAAGGCTCTCGCTGATCACG	0.378								Other_conserved_DNA_damage_response_genes				
TRPC1	7220	broad.mit.edu	37	3	142521156	142521156	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:142521156G>A	uc003evc.2	+	10	1863	c.1727G>A	c.(1726-1728)TGT>TAT	p.C576Y	TRPC1_uc003evb.2_Missense_Mutation_p.C542Y|TRPC1_uc011bni.1_Missense_Mutation_p.C95Y	NM_003304	NP_003295	P48995	TRPC1_HUMAN	transient receptor potential cation channel,	576	Cytoplasmic (Potential).				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						GGCATCTTCTGTGAACAGCAA	0.308												
PAQR9	344838	broad.mit.edu	37	3	142681261	142681261	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:142681261A>G	uc003evg.2	-	1	918	c.918T>C	c.(916-918)ATT>ATC	p.I306I	PAQR9_uc003evf.1_RNA	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	306	Helical; (Potential).					integral to membrane	receptor activity				0						TGTGGCCGATAATGTCGAAAA	0.587												
IGSF10	285313	broad.mit.edu	37	3	151164676	151164676	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:151164676C>T	uc011bod.1	-	4	3093	c.3093G>A	c.(3091-3093)CTG>CTA	p.L1031L		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1031					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TATGCCGTCGCAGAACTGGAG	0.473												
SUCNR1	56670	broad.mit.edu	37	3	151598580	151598580	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:151598580T>A	uc003ezf.1	+	3	348	c.249T>A	c.(247-249)TAT>TAA	p.Y83*		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	83	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TAAGGAGTTATGCCAATGGAA	0.423												
P2RY1	5028	broad.mit.edu	37	3	152553661	152553661	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:152553661C>T	uc003ezq.2	+	1	926	c.90C>T	c.(88-90)GTC>GTT	p.V30V		NM_002563	NP_002554	P47900	P2RY1_HUMAN	purinergic receptor P2Y1	30	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			ACAGCACGGTCGCCTCCACTG	0.617												
MYNN	55892	broad.mit.edu	37	3	169497257	169497257	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:169497257T>A	uc003fft.2	+	3	1397	c.968T>A	c.(967-969)ATA>AAA	p.I323K	MYNN_uc011bpm.1_Missense_Mutation_p.I209K|MYNN_uc003ffu.2_Missense_Mutation_p.I323K|MYNN_uc003ffv.2_Missense_Mutation_p.I50K|MYNN_uc010hwo.2_Missense_Mutation_p.I323K|MYNN_uc003ffw.1_RNA	NM_018657	NP_061127	Q9NPC7	MYNN_HUMAN	myoneurin	323	C2H2-type 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1	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)			CACATGAGAATACATAAAGGA	0.453												
ABCC5	10057	broad.mit.edu	37	3	183682976	183682976	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:183682976C>T	uc003fmg.2	-	14	2193	c.2028G>A	c.(2026-2028)ACG>ACA	p.T676T	ABCC5_uc011bqt.1_Silent_p.T204T|ABCC5_uc010hxl.2_Silent_p.T676T	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	676	ABC transporter 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCTGTACCTCCGTCAGGTCGC	0.592												
EIF4G1	1981	broad.mit.edu	37	3	184040373	184040373	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:184040373A>G	uc003fnp.2	+	12	1848	c.1650A>G	c.(1648-1650)GCA>GCG	p.A550A	EIF4G1_uc003fno.1_Silent_p.A491A|EIF4G1_uc010hxw.1_Silent_p.A386A|EIF4G1_uc003fnt.2_Silent_p.A261A|EIF4G1_uc003fnq.2_Silent_p.A463A|EIF4G1_uc003fnr.2_Silent_p.A386A|EIF4G1_uc010hxx.2_Silent_p.A557A|EIF4G1_uc003fns.2_Silent_p.A510A|EIF4G1_uc010hxy.2_Silent_p.A557A|EIF4G1_uc003fnv.3_Silent_p.A550A|EIF4G1_uc003fnu.3_Silent_p.A550A|EIF4G1_uc003fnw.2_Silent_p.A557A|EIF4G1_uc003fnx.2_Silent_p.A354A|EIF4G1_uc003fny.3_Silent_p.A354A	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	550					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)			AGCCTCCTGCAGGCAGCAATC	0.532												
EPHB3	2049	broad.mit.edu	37	3	184299146	184299146	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:184299146C>T	uc003foz.2	+	15	3275	c.2838C>T	c.(2836-2838)TTC>TTT	p.F946F		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	946	Cytoplasmic (Potential).|SAM.					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)			AGGAGAGCTTCGTCAGTGCGG	0.592												
EIF4A2	1974	broad.mit.edu	37	3	186504931	186504931	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:186504931A>G	uc003fqs.2	+	8	826	c.787A>G	c.(787-789)ACA>GCA	p.T263A	EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Missense_Mutation_p.T264A|EIF4A2_uc003fqv.2_Missense_Mutation_p.T168A|EIF4A2_uc003fqw.2_Missense_Mutation_p.T168A|EIF4A2_uc011bsb.1_Missense_Mutation_p.T136A|SNORA63_uc010hyw.1_5'Flank|SNORA4_uc010hyx.1_5'Flank	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	263	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			ovary(2)|breast(2)	4	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GAAGTTGGATACACTTTGTGA	0.363			T	BCL6	NHL							
MUC4	4585	broad.mit.edu	37	3	195506181	195506181	+	Silent	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:195506181G>T	uc011bto.1	-	3	12346	c.11886C>A	c.(11884-11886)TCC>TCA	p.S3962S	MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_5'Flank|MUC4_uc011btg.1_5'Flank|MUC4_uc011bth.1_5'Flank|MUC4_uc011bti.1_5'Flank|MUC4_uc011btj.1_5'Flank|MUC4_uc011btk.1_5'Flank|MUC4_uc011btl.1_5'Flank|MUC4_uc011btm.1_5'Flank|MUC4_uc011btn.1_5'Flank|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	856	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CGTGACCGGTGGATGCTGAGG	0.582												
PIGX	54965	broad.mit.edu	37	3	196454970	196454970	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:196454970G>A	uc010iaj.2	+	4	653	c.372G>A	c.(370-372)GTG>GTA	p.V124V	PIGX_uc003fwx.3_Silent_p.V124V|PIGX_uc011btx.1_RNA	NM_017861	NP_060331	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	165	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane					0	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		CCTCGATTGTGGTCAATAACC	0.468												
PAK2	5062	broad.mit.edu	37	3	196509566	196509566	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:196509566C>T	uc003fwy.3	+	2	371	c.49C>T	c.(49-51)CGA>TGA	p.R17*		NM_002577	NP_002568	Q13177	PAK2_HUMAN	p21-activated kinase 2	17					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			ovary(1)|lung(1)	2	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		ACCTCCTGTGCGAATGAGCAG	0.438												
GAK	2580	broad.mit.edu	37	4	860918	860918	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:860918C>G	uc003gbm.3	-	21	2897	c.2698G>C	c.(2698-2700)GCC>CCC	p.A900P	GAK_uc003gbn.3_Missense_Mutation_p.A821P|GAK_uc010ibk.1_Missense_Mutation_p.A794P|GAK_uc010ibi.2_Missense_Mutation_p.A81P|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.A764P	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	900					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)		GCCTTGCAGGCCTGCGGGGGT	0.716												
GAK	2580	broad.mit.edu	37	4	861151	861151	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:861151T>C	uc003gbm.3	-	21	2664	c.2465A>G	c.(2464-2466)GAC>GGC	p.D822G	GAK_uc003gbn.3_Missense_Mutation_p.D743G|GAK_uc010ibk.1_Missense_Mutation_p.D716G|GAK_uc010ibi.2_Missense_Mutation_p.D3G|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.D686G	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	822					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)		CTCGTCTCTGTCCTCCATCAG	0.602												
FAM193A	8603	broad.mit.edu	37	4	2673877	2673877	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:2673877T>A	uc010icl.2	+	11	1587	c.1236T>A	c.(1234-1236)TGT>TGA	p.C412*	FAM193A_uc010ick.2_Nonsense_Mutation_p.C612*|FAM193A_uc003gfd.2_Nonsense_Mutation_p.C412*|FAM193A_uc011bvm.1_Nonsense_Mutation_p.C434*|FAM193A_uc011bvn.1_Nonsense_Mutation_p.C412*|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Nonsense_Mutation_p.C266*	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	412										ovary(3)	3						CTTGTGAATGTCATGTTTGTA	0.433												
ADD1	118	broad.mit.edu	37	4	2906508	2906508	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:2906508C>T	uc003gfr.2	+	10	1367	c.1179C>T	c.(1177-1179)TAC>TAT	p.Y393Y	ADD1_uc003gfn.2_Intron|ADD1_uc003gfo.2_Silent_p.Y393Y|ADD1_uc003gfp.2_Silent_p.Y393Y|ADD1_uc003gfq.2_Silent_p.Y393Y|ADD1_uc003gfs.2_Silent_p.Y393Y|ADD1_uc003gft.3_Silent_p.Y393Y	NM_001119	NP_001110	P35611	ADDA_HUMAN	adducin 1 (alpha) isoform a	393					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAACTGGCTACCCTTATCGAT	0.398												
ADD1	118	broad.mit.edu	37	4	2916624	2916624	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:2916624C>T	uc003gfr.2	+	13	1807	c.1619C>T	c.(1618-1620)ACG>ATG	p.T540M	ADD1_uc003gfn.2_Intron|ADD1_uc003gfo.2_Missense_Mutation_p.T571M|ADD1_uc003gfp.2_Missense_Mutation_p.T540M|ADD1_uc003gfq.2_Missense_Mutation_p.T571M|ADD1_uc003gfs.2_Missense_Mutation_p.T571M	NM_001119	NP_001110	P35611	ADDA_HUMAN	adducin 1 (alpha) isoform a	540					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAGCTGGTGACGGCCTCCAAG	0.642												
LYAR	55646	broad.mit.edu	37	4	4283520	4283520	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:4283520G>T	uc011bvy.1	-	4	370	c.227C>A	c.(226-228)GCG>GAG	p.A76E	LYAR_uc011bvx.1_5'Flank|LYAR_uc003ght.2_Missense_Mutation_p.A76E	NM_001145725	NP_001139197	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive homolog	76						nucleolus	metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTGAATCCACGCCTGCTGTTT	0.443												
STK32B	55351	broad.mit.edu	37	4	5468447	5468447	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:5468447C>T	uc003gih.1	+	10	991	c.927C>T	c.(925-927)TGC>TGT	p.C309C	STK32B_uc010ida.1_Silent_p.C262C	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	309							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						GGTTGAACTGCGATCCCACAT	0.418												
EVC2	132884	broad.mit.edu	37	4	5624508	5624508	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:5624508G>A	uc003gij.2	-	14	2311	c.2257C>T	c.(2257-2259)CGC>TGC	p.R753C	EVC2_uc011bwb.1_Missense_Mutation_p.R193C|EVC2_uc003gik.2_Missense_Mutation_p.R673C	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	753	Potential.					integral to membrane				large_intestine(3)|ovary(2)	5						TTCTGCAGGCGCCGCAGCTCG	0.647												
EVC	2121	broad.mit.edu	37	4	5754686	5754686	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:5754686G>A	uc003gil.1	+	9	1406	c.1222G>A	c.(1222-1224)GCT>ACT	p.A408T	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	408					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				GGAGCTGCTGGCTGGTGAGGG	0.652												
PPP2R2C	5522	broad.mit.edu	37	4	6377649	6377649	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:6377649A>G	uc003gjc.2	-	4	714	c.344T>C	c.(343-345)ATC>ACC	p.I115T	PPP2R2C_uc003gjb.2_Missense_Mutation_p.I98T|PPP2R2C_uc011bwd.1_Missense_Mutation_p.I108T|PPP2R2C_uc011bwe.1_Missense_Mutation_p.I108T|PPP2R2C_uc003gja.2_Missense_Mutation_p.I115T|PPP2R2C_uc003gjd.1_Missense_Mutation_p.I203T	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	115	WD 2.				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						CCATAATTTGATAGTTTTATC	0.413												
KIAA0232	9778	broad.mit.edu	37	4	6865064	6865064	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:6865064G>A	uc003gjr.3	+	7	3418	c.2955G>A	c.(2953-2955)GGG>GGA	p.G985G	KIAA0232_uc003gjq.3_Silent_p.G985G	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	985							ATP binding			ovary(2)	2						TTGCTCCTGGGCACAGGCAGT	0.438												
BOD1L	259282	broad.mit.edu	37	4	13597501	13597501	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	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												
PROM1	8842	broad.mit.edu	37	4	15982050	15982050	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:15982050G>A	uc003goo.2	-	23	2696	c.2484C>T	c.(2482-2484)TAC>TAT	p.Y828Y	PROM1_uc003gor.2_Silent_p.Y828Y|PROM1_uc003gos.2_Silent_p.Y819Y|PROM1_uc003got.2_Silent_p.Y828Y|PROM1_uc003gou.2_Silent_p.Y819Y|PROM1_uc003gop.2_Silent_p.Y819Y|PROM1_uc003goq.3_Silent_p.Y819Y	NM_006017	NP_006008	O43490	PROM1_HUMAN	prominin 1 isoform 1	828	Cytoplasmic (Potential).				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	7						CTTACTCATCGTACACGTCCT	0.433												
STIM2	57620	broad.mit.edu	37	4	27024459	27024459	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:27024459C>T	uc003gsh.3	+	13	2583	c.2367C>T	c.(2365-2367)CGC>CGT	p.R789R	STIM2_uc003gsg.3_Silent_p.R781R|STIM2_uc010iex.2_3'UTR|STIM2_uc010iey.2_3'UTR	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	694	Cytoplasmic (Potential).				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			central_nervous_system(1)|skin(1)	2		Breast(46;0.0503)				CTAAACCTCGCCACACATCAT	0.483												
PCDH7	5099	broad.mit.edu	37	4	30723234	30723234	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:30723234G>A	uc003gsk.1	+	1	1198	c.190G>A	c.(190-192)GTG>ATG	p.V64M	PCDH7_uc011bxw.1_Missense_Mutation_p.V64M|PCDH7_uc011bxx.1_Missense_Mutation_p.V64M	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	64	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						ATCGGGTGAGGTGACTTTCAG	0.662												
PCDH7	5099	broad.mit.edu	37	4	30724012	30724012	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:30724012C>T	uc003gsk.1	+	1	1976	c.968C>T	c.(967-969)CCG>CTG	p.P323L	PCDH7_uc011bxw.1_Missense_Mutation_p.P276L|PCDH7_uc011bxx.1_Missense_Mutation_p.P323L	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	323	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						AACAGCGCCCCGGGGACCCCC	0.662												
APBB2	323	broad.mit.edu	37	4	41016202	41016202	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:41016202G>A	uc003gvl.2	-	6	863	c.233C>T	c.(232-234)GCC>GTC	p.A78V	APBB2_uc003gvm.2_Missense_Mutation_p.A78V|APBB2_uc003gvn.2_Missense_Mutation_p.A78V|APBB2_uc011byt.1_Missense_Mutation_p.A61V	NM_173075	NP_775098	Q92870	APBB2_HUMAN	amyloid beta A4 precursor protein-binding,	78					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			ovary(2)|large_intestine(1)	3						GAGGCCCATGGCCGCCTGGAT	0.502												
GABRA4	2557	broad.mit.edu	37	4	46976326	46976326	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:46976326G>A	uc003gxg.2	-	6	783	c.644C>T	c.(643-645)CCG>CTG	p.P215L		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	215	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGACTCCTTCGGAACTTCAAC	0.393												
SCFD2	152579	broad.mit.edu	37	4	54231634	54231634	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:54231634A>C	uc003gzu.2	-	1	609	c.475T>G	c.(475-477)TTG>GTG	p.L159V	SCFD2_uc010igm.2_Missense_Mutation_p.L159V	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	159					protein transport|vesicle docking involved in exocytosis					ovary(2)|pancreas(1)	3			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GGGGCAAGCAATAACGGGACA	0.572												
CENPC1	1060	broad.mit.edu	37	4	68380266	68380266	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:68380266C>T	uc003hdd.1	-	8	1153	c.970G>A	c.(970-972)GCA>ACA	p.A324T	CENPC1_uc010ihj.1_RNA|CENPC1_uc010ihk.1_RNA|CENPC1_uc010ihm.1_Missense_Mutation_p.A324T	NM_001812	NP_001803	Q03188	CENPC_HUMAN	centromere protein C 1	324					mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding			urinary_tract(1)|lung(1)	2						AGAGACCCTGCCTTTCTTGGT	0.413												
CSN3	1448	broad.mit.edu	37	4	71114881	71114881	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:71114881C>T	uc003hfe.3	+	4	312	c.254C>T	c.(253-255)GCT>GTT	p.A85V		NM_005212	NP_005203	P07498	CASK_HUMAN	casein kappa precursor	85						extracellular region	protein binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						GCAAACCCAGCTGTAGTTAGG	0.448												
PPEF2	5470	broad.mit.edu	37	4	76787346	76787346	+	Missense_Mutation	SNP	C	C	T	rs138384094	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:76787346C>T	uc003hix.2	-	15	2273	c.1916G>A	c.(1915-1917)CGC>CAC	p.R639H	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_3'UTR	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	639					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CGTTACCTCGCGACTCAGTTG	0.478												
FRAS1	80144	broad.mit.edu	37	4	79437097	79437097	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:79437097C>A	uc003hlb.2	+	66	10759	c.10319C>A	c.(10318-10320)ACC>AAC	p.T3440N		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3435	Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						TGCGTGTGGACCTTTGATGCT	0.572												
ARHGAP24	83478	broad.mit.edu	37	4	86898809	86898809	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:86898809G>A	uc003hpk.2	+	8	1342	c.893G>A	c.(892-894)CGC>CAC	p.R298H	ARHGAP24_uc003hpl.2_Missense_Mutation_p.R203H|ARHGAP24_uc010ikf.2_Missense_Mutation_p.R213H|ARHGAP24_uc003hpm.2_Missense_Mutation_p.R205H	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24 isoform 1	298	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AATATCCTGCGCCCCAAAGTG	0.403												
SPP1	6696	broad.mit.edu	37	4	88903760	88903760	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:88903760C>T	uc003hra.2	+	7	822	c.657C>T	c.(655-657)AGC>AGT	p.S219S	SPP1_uc003hrb.2_Silent_p.S192S|SPP1_uc003hrc.2_Silent_p.S205S|SPP1_uc011cde.1_Silent_p.S232S|SPP1_uc003hrd.2_Silent_p.S178S	NM_001040058	NP_001035147	P10451	OSTP_HUMAN	secreted phosphoprotein 1 isoform a	219					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			ovary(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		ATTGGGACAGCCGTGGGAAGG	0.527												
RAP1GDS1	5910	broad.mit.edu	37	4	99313170	99313170	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:99313170C>T	uc003htx.3	+	6	766	c.576C>T	c.(574-576)CAC>CAT	p.H192H	RAP1GDS1_uc003htu.2_Silent_p.H192H|RAP1GDS1_uc003htw.3_Silent_p.H193H|RAP1GDS1_uc003htv.3_Silent_p.H193H|RAP1GDS1_uc003htz.3_Silent_p.H143H|RAP1GDS1_uc003hty.3_Silent_p.H144H|RAP1GDS1_uc003hua.3_Intron	NM_001100427	NP_001093897	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1 isoform	192	ARM 2.						binding|GTPase activator activity			ovary(1)|lung(1)|breast(1)	3				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TGGGCATCCACTGCCAAAATG	0.343			T	NUP98	T-ALL							
TET2	54790	broad.mit.edu	37	4	106157341	106157341	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:106157341T>A	uc003hxk.2	+	3	2628	c.2242T>A	c.(2242-2244)TTA>ATA	p.L748I	TET2_uc011cez.1_Missense_Mutation_p.L769I|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.L748I|TET2_uc003hxi.1_Missense_Mutation_p.L748I	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	748	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GCAGCAAAAATTACAAATAAA	0.408			Mis N|F		MDS							
SYNPO2	171024	broad.mit.edu	37	4	119952870	119952870	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:119952870A>G	uc003icm.3	+	4	3136	c.2940A>G	c.(2938-2940)CAA>CAG	p.Q980Q	SYNPO2_uc010ina.2_Silent_p.Q980Q|SYNPO2_uc010inb.2_Silent_p.Q980Q|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Silent_p.Q908Q	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	980						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						TTACTTTCCAACCTCCAGATG	0.498												
MAD2L1	4085	broad.mit.edu	37	4	120983144	120983144	+	Silent	SNP	A	A	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:120983144A>C	uc003idl.2	-	3	451	c.327T>G	c.(325-327)ACT>ACG	p.T109T	MAD2L1_uc003idm.2_Intron	NM_002358	NP_002349	Q13257	MD2L1_HUMAN	MAD2-like 1	109	HORMA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity				0						CATCTTTTGCAGTCTTGTCAC	0.299												
BBS7	55212	broad.mit.edu	37	4	122770069	122770069	+	Silent	SNP	G	G	A	rs142376157		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:122770069G>A	uc003ied.2	-	9	1038	c.864C>T	c.(862-864)AGC>AGT	p.S288S	BBS7_uc003iee.1_Silent_p.S288S	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7 protein isoform a	288					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			ovary(1)	1						TAGATGTGACGCTTTCAGACA	0.358									Bardet-Biedl_syndrome			
SPRY1	10252	broad.mit.edu	37	4	124323363	124323363	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:124323363G>A	uc003ifa.2	+	2	805	c.617G>A	c.(616-618)CGG>CAG	p.R206Q	SPRY1_uc003ifb.2_Missense_Mutation_p.R206Q	NM_199327	NP_955359	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling	206	Cys-rich.|SPR.				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				skin(2)|ovary(1)	3						GCCTGTAACCGGCAGTGCCTT	0.522												
FAT4	79633	broad.mit.edu	37	4	126370353	126370353	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:126370353G>A	uc003ifj.3	+	9	8182	c.8182G>A	c.(8182-8184)GTT>ATT	p.V2728I	FAT4_uc011cgp.1_Missense_Mutation_p.V1026I|FAT4_uc003ifi.1_Missense_Mutation_p.V206I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2728	Cadherin 26.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AATTAGAAGCGTTAGACCTTT	0.383												
FAT4	79633	broad.mit.edu	37	4	126398366	126398366	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:126398366C>T	uc003ifj.3	+	13	12350	c.12350C>T	c.(12349-12351)CCA>CTA	p.P4117L	FAT4_uc011cgp.1_Missense_Mutation_p.P2380L|FAT4_uc003ifi.1_Missense_Mutation_p.P1595L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4117	Laminin G-like 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TCTCTAGAACCAATCCTTCAG	0.393												
FAT4	79633	broad.mit.edu	37	4	126411789	126411789	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:126411789C>T	uc003ifj.3	+	17	13812	c.13812C>T	c.(13810-13812)ACC>ACT	p.T4604T	FAT4_uc011cgp.1_Silent_p.T2845T|FAT4_uc003ifi.1_Silent_p.T2081T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4604	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ACTCAGAAACCATCCCCAGCG	0.488												
PCDH10	57575	broad.mit.edu	37	4	134071537	134071537	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:134071537G>A	uc003iha.2	+	1	1068	c.242G>A	c.(241-243)CGC>CAC	p.R81H	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R81H	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	81	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		AAAATAGACCGCGAACAAATC	0.567												
PCDH10	57575	broad.mit.edu	37	4	134072675	134072675	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:134072675G>A	uc003iha.2	+	1	2206	c.1380G>A	c.(1378-1380)GCG>GCA	p.A460A	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.A460A	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	460	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		ACGACAACGCGCCGCGTTTCA	0.617												
LRBA	987	broad.mit.edu	37	4	151773292	151773292	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:151773292C>T	uc010ipj.2	-	23	4044	c.3570G>A	c.(3568-3570)ATG>ATA	p.M1190I	LRBA_uc003ilt.3_5'Flank|LRBA_uc003ilu.3_Missense_Mutation_p.M1190I	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1190						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					TTTCTGGTGACATAGCTGAAG	0.403												
FBXW7	55294	broad.mit.edu	37	4	153271192	153271192	+	Splice_Site	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:153271192A>G	uc003ims.2	-	3	733	c.584_splice	c.e3+1	p.S195_splice	FBXW7_uc011cii.1_Splice_Site_p.S195_splice|FBXW7_uc003imt.2_Splice_Site_p.S195_splice|FBXW7_uc011cih.1_5'Flank|FBXW7_uc003imq.2_Splice_Site_p.S115_splice|FBXW7_uc003imr.2_Splice_Site_p.S77_splice	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform						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)				ATTTAATATTACCTTGTATAT	0.303			Mis|N|D|F		colorectal|endometrial|T-ALL							
FHDC1	85462	broad.mit.edu	37	4	153897150	153897150	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:153897150C>T	uc003inf.2	+	11	2782	c.2707C>T	c.(2707-2709)CGC>TGC	p.R903C		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	903					actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)					CGAGAGCATGCGCAAGGTCAT	0.701												
TRIM2	23321	broad.mit.edu	37	4	154243896	154243896	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:154243896T>C	uc003ing.2	+	9	1999	c.1798T>C	c.(1798-1800)TTT>CTT	p.F600L	TRIM2_uc003inh.2_Missense_Mutation_p.F627L	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN	tripartite motif-containing 2 isoform 2	600	NHL 3.					cytoplasm	zinc ion binding			central_nervous_system(1)	1	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		GTGCTGCGTGTTTATCTTCCA	0.483												
DCHS2	54798	broad.mit.edu	37	4	155253791	155253791	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:155253791G>A	uc003inw.2	-	9	2072	c.2072C>T	c.(2071-2073)ACC>ATC	p.T691I	DCHS2_uc003inx.2_Missense_Mutation_p.T1190I	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	691	Cadherin 5.				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)		ATGCAAGAAGGTGGGGGAATT	0.438												
MAP9	79884	broad.mit.edu	37	4	156289916	156289916	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:156289916C>T	uc003ios.2	-	5	794	c.530G>A	c.(529-531)CGG>CAG	p.R177Q	MAP9_uc011cin.1_Missense_Mutation_p.R176Q|MAP9_uc010iqa.1_RNA|MAP9_uc003iot.1_Missense_Mutation_p.R176Q|MAP9_uc010iqb.1_Missense_Mutation_p.R104Q	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	aster-associated protein	177					cell division|mitosis	cytoplasm|microtubule|spindle				ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		ACTCCTTGGCCGAGGTGATGG	0.378												
GLRB	2743	broad.mit.edu	37	4	158074033	158074033	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:158074033C>G	uc003ipj.2	+	9	1270	c.1068C>G	c.(1066-1068)AAC>AAG	p.N356K		NM_000824	NP_000815	P48167	GLRB_HUMAN	glycine receptor, beta isoform A precursor	356	Cytoplasmic (Probable).				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			skin(2)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TGCTGAACAACCCCAAAAGGG	0.448												
FAM198B	51313	broad.mit.edu	37	4	159092395	159092395	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:159092395C>T	uc003ipp.3	-	2	585	c.133G>A	c.(133-135)GCC>ACC	p.A45T	uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Missense_Mutation_p.A45T|FAM198B_uc003ipr.3_Missense_Mutation_p.A45T|FAM198B_uc003ips.2_Missense_Mutation_p.A45T|uc003ipt.1_RNA	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 2	45	Helical; Signal-anchor for type II membrane protein; (Potential).					Golgi membrane|integral to membrane					0						AAGTAGATGGCACACGCAGTG	0.652												
KLHL2	11275	broad.mit.edu	37	4	166215608	166215608	+	Silent	SNP	T	T	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:166215608T>G	uc003irb.2	+	6	901	c.642T>G	c.(640-642)TCT>TCG	p.S214S	KLHL2_uc011cjm.1_Silent_p.S218S|KLHL2_uc003irc.2_Silent_p.S126S|KLHL2_uc010ira.2_5'UTR	NM_007246	NP_009177	O95198	KLHL2_HUMAN	kelch-like 2, Mayven isoform 1	214					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TTACCATTTCTTCAGAAGAGA	0.338												
DDX60	55601	broad.mit.edu	37	4	169194431	169194431	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:169194431T>C	uc003irp.2	-	18	2865	c.2573A>G	c.(2572-2574)CAG>CGG	p.Q858R		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	858	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATACCCTACCTGACAGTTTAA	0.363												
KIAA1712	80817	broad.mit.edu	37	4	175231102	175231102	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:175231102T>C	uc003itr.2	+	8	1194	c.780T>C	c.(778-780)TGT>TGC	p.C260C	KIAA1712_uc010iro.2_Silent_p.C260C|KIAA1712_uc003its.2_RNA	NM_001040157	NP_001035247	Q9C0F1	CEP44_HUMAN	HBV PreS1-transactivated protein 3 isoform a	260	Potential.					centrosome|midbody|spindle pole					0		Prostate(90;0.00276)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;4.06e-18)|Epithelial(43;1.18e-15)|OV - Ovarian serous cystadenocarcinoma(60;4.65e-09)|GBM - Glioblastoma multiforme(59;0.00098)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0949)		GGTTAGACTGTTTGGAACAAA	0.348												
GLRA3	8001	broad.mit.edu	37	4	175598374	175598374	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:175598374T>C	uc003ity.1	-	7	1285	c.782A>G	c.(781-783)TAC>TGC	p.Y261C	GLRA3_uc003itz.1_Missense_Mutation_p.Y261C	NM_006529	NP_006520	O75311	GLRA3_HUMAN	glycine receptor, alpha 3 isoform a	261	Helical; (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(3)	3		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	ACTGGGAATGTACATCTGGAT	0.443												
ASB5	140458	broad.mit.edu	37	4	177142368	177142368	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:177142368G>A	uc003iuq.1	-	5	624	c.608C>T	c.(607-609)ACT>ATT	p.T203I	ASB5_uc003iup.1_Missense_Mutation_p.T150I	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box-containing protein	203	ANK 5.				intracellular signal transduction					skin(2)	2		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ATAGAGAGGAGTTCCCAAATG	0.408												
VEGFC	7424	broad.mit.edu	37	4	177648991	177648991	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:177648991A>G	uc003ius.1	-	3	923	c.493T>C	c.(493-495)TGC>CGC	p.C165R		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	165					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			lung(5)	5		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CTATTGCAGCAACCCCCACAT	0.547												
CDKN2AIP	55602	broad.mit.edu	37	4	184368553	184368553	+	Silent	SNP	A	A	G	rs143559678		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:184368553A>G	uc003ivp.1	+	3	1878	c.1716A>G	c.(1714-1716)GCA>GCG	p.A572A	CDKN2AIP_uc003ivq.1_Silent_p.A317A	NM_017632	NP_060102	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	572					negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding				0		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TACCTCCAGCACTAAAACATC	0.338												
C4orf41	60684	broad.mit.edu	37	4	184585026	184585026	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:184585026C>T	uc003ivx.2	+	2	182	c.6C>T	c.(4-6)AGC>AGT	p.S2S	C4orf41_uc003ivw.2_Silent_p.S2S|C4orf41_uc010isc.2_5'UTR	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	2											0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)		TAAACATGAGCCCCACACAGT	0.348												
CCDC111	201973	broad.mit.edu	37	4	185593391	185593391	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:185593391C>T	uc003iwk.2	+	7	1054	c.621C>T	c.(619-621)AGC>AGT	p.S207S	CCDC111_uc010isd.1_RNA|CCDC111_uc003iwj.2_Silent_p.S207S|CCDC111_uc003iwl.2_Silent_p.S207S|CCDC111_uc003iwm.2_Silent_p.S78S|CCDC111_uc003iwn.2_Silent_p.S32S	NM_152683	NP_689896	Q96LW4	CC111_HUMAN	coiled-coil domain containing 111	207					DNA replication, synthesis of RNA primer		DNA primase activity			central_nervous_system(1)	1		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		ATGATGATAGCGCTCCAGAGA	0.398												
CCDC110	256309	broad.mit.edu	37	4	186381064	186381064	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:186381064G>T	uc003ixu.3	-	6	753	c.677C>A	c.(676-678)ACT>AAT	p.T226N	CCDC110_uc003ixv.3_Missense_Mutation_p.T189N|CCDC110_uc011ckt.1_Missense_Mutation_p.T226N	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	226						nucleus				central_nervous_system(1)	1		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AAAAGGCACAGTAATTTTGGA	0.333												
F11	2160	broad.mit.edu	37	4	187195296	187195296	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:187195296C>A	uc003iza.1	+	5	685	c.352C>A	c.(352-354)CTA>ATA	p.L118I	F11_uc003iyz.2_Missense_Mutation_p.L118I	NM_000128	NP_000119	P03951	FA11_HUMAN	coagulation factor XI precursor	118	Apple 2.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity				0		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TTATGTGGACCTAGACATGAA	0.448												
FAM173B	134145	broad.mit.edu	37	5	10239183	10239183	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:10239183C>T	uc003jeo.2	-	2	331	c.302G>A	c.(301-303)CGC>CAC	p.R101H	FAM173B_uc003jep.2_RNA|FAM173B_uc010itr.2_Missense_Mutation_p.R101H	NM_199133	NP_954584	Q6P4H8	F173B_HUMAN	hypothetical protein LOC134145	101						integral to membrane				kidney(1)|central_nervous_system(1)	2						ACTCACAATGCGTCCGTCCCC	0.398												
DNAH5	1767	broad.mit.edu	37	5	13845019	13845019	+	Missense_Mutation	SNP	G	G	A	rs146087064		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:13845019G>A	uc003jfd.2	-	32	5240	c.5198C>T	c.(5197-5199)TCG>TTG	p.S1733L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1733	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					GTGGGAGTCCGACGCCTGCCC	0.463									Kartagener_syndrome			
MYO10	4651	broad.mit.edu	37	5	16699619	16699619	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:16699619G>A	uc003jft.3	-	26	3964	c.3496C>T	c.(3496-3498)CGT>TGT	p.R1166C	MYO10_uc011cnc.1_Missense_Mutation_p.R45C|MYO10_uc011cnd.1_Missense_Mutation_p.R523C|MYO10_uc011cne.1_Missense_Mutation_p.R523C|MYO10_uc010itx.2_Missense_Mutation_p.R789C	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1166					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						ACAGAGTCACGCCGGTATGAA	0.493												
MYO10	4651	broad.mit.edu	37	5	16764481	16764481	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:16764481C>T	uc003jft.3	-	12	1672	c.1204G>A	c.(1204-1206)GCC>ACC	p.A402T	MYO10_uc010itx.2_Missense_Mutation_p.A25T	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	402	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						AGAGCCATGGCCAGGGAGTCC	0.547												
RNASEN	29102	broad.mit.edu	37	5	31515179	31515179	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:31515179C>T	uc003jhg.2	-	7	1565	c.1206G>A	c.(1204-1206)GAG>GAA	p.E402E	RNASEN_uc003jhh.2_Silent_p.E365E|RNASEN_uc003jhi.2_Silent_p.E365E|RNASEN_uc010iui.1_Silent_p.E325E	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	402					gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0						CTTCTTCTTCCTCCTCATTCT	0.468												
PDZD2	23037	broad.mit.edu	37	5	32069705	32069705	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:32069705G>A	uc003jhl.2	+	15	2870	c.2482G>A	c.(2482-2484)GCA>ACA	p.A828T	PDZD2_uc003jhm.2_Missense_Mutation_p.A828T|PDZD2_uc011cnx.1_Missense_Mutation_p.A654T	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	828					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						TGAAGTCATAGCACGCAGCAC	0.388												
PDZD2	23037	broad.mit.edu	37	5	32088835	32088835	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:32088835A>G	uc003jhl.2	+	20	5669	c.5281A>G	c.(5281-5283)AGT>GGT	p.S1761G	PDZD2_uc003jhm.2_Missense_Mutation_p.S1761G	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	1761					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GTCCTCCTTCAGTGTGGATGT	0.448												
ADAMTS12	81792	broad.mit.edu	37	5	33576232	33576232	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:33576232A>G	uc003jia.1	-	19	4062	c.3899T>C	c.(3898-3900)CTA>CCA	p.L1300P	ADAMTS12_uc010iuq.1_Missense_Mutation_p.L1215P	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1300	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						GGAGGCATTTAGCAAAAAGCC	0.488										HNSCC(64;0.19)		
NIPBL	25836	broad.mit.edu	37	5	36976272	36976272	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:36976272G>A	uc003jkl.3	+	9	1762	c.1263G>A	c.(1261-1263)TCG>TCA	p.S421S	NIPBL_uc003jkk.3_Silent_p.S421S|NIPBL_uc003jkm.1_Silent_p.S300S	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	421	Gln-rich.				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			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	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)			AATGTTTGTCGCAGCAAGAAC	0.423												
NIPBL	25836	broad.mit.edu	37	5	37022373	37022373	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:37022373C>T	uc003jkl.3	+	29	5954	c.5455C>T	c.(5455-5457)CGA>TGA	p.R1819*	NIPBL_uc003jkk.3_Nonsense_Mutation_p.R1819*	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1819					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			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	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)			TGTTCATGGACGATTGATGGA	0.358												
LIFR	3977	broad.mit.edu	37	5	38506042	38506042	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:38506042G>A	uc010ive.1	-	9	1588	c.1256C>T	c.(1255-1257)TCA>TTA	p.S419L	LIFR_uc003jli.2_Missense_Mutation_p.S419L	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	419	Fibronectin type-III 2.|Extracellular (Potential).				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					TGTTGATTGTGATCGACCCAG	0.284			T	PLAG1	salivary adenoma							
PLCXD3	345557	broad.mit.edu	37	5	41382224	41382224	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:41382224T>C	uc003jmm.1	-	2	618	c.516A>G	c.(514-516)CCA>CCG	p.P172P		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X	172	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						CAAAAATCGCTGGGCACATTT	0.428												
ARL15	54622	broad.mit.edu	37	5	53409092	53409092	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:53409092A>G	uc003jpg.1	-	4	496	c.402T>C	c.(400-402)ACT>ACC	p.T134T	ARL15_uc010ivs.1_RNA	NM_019087	NP_061960	Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15	134							GTP binding			ovary(1)	1		Lung NSC(810;0.000779)				AAAAGGGTAAAGTGCATAACT	0.423												
MAP3K1	4214	broad.mit.edu	37	5	56177584	56177584	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:56177584C>T	uc003jqw.3	+	14	3058	c.2557C>T	c.(2557-2559)CGT>TGT	p.R853C		NM_005921	NP_005912	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase	853					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CACCAGGATGCGTCGCCGTTT	0.468												
ADAMTS6	11174	broad.mit.edu	37	5	64537967	64537967	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:64537967G>A	uc003jtp.2	-	15	2711	c.1897C>T	c.(1897-1899)CGA>TGA	p.R633*	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Nonsense_Mutation_p.R254*	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	633					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TACTTTCCTCGGAAAGGCATA	0.368												
ADAMTS6	11174	broad.mit.edu	37	5	64556430	64556430	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:64556430T>C	uc003jtp.2	-	14	2641	c.1827A>G	c.(1825-1827)ACA>ACG	p.T609T	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Silent_p.T230T	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	609	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TACTTACATCTGTGTTACAGG	0.264												
BDP1	55814	broad.mit.edu	37	5	70840949	70840949	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:70840949C>T	uc003kbp.1	+	32	6910	c.6647C>T	c.(6646-6648)ACA>ATA	p.T2216I	BDP1_uc003kbo.2_Missense_Mutation_p.T2216I|BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_RNA	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	2216					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GGGCCCTGCACACTTGGTTTG	0.473												
MAP1B	4131	broad.mit.edu	37	5	71495820	71495820	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:71495820G>A	uc003kbw.3	+	5	6879	c.6638G>A	c.(6637-6639)CGC>CAC	p.R2213H	MAP1B_uc010iyw.1_Missense_Mutation_p.R2230H|MAP1B_uc010iyx.1_Missense_Mutation_p.R2087H|MAP1B_uc010iyy.1_Missense_Mutation_p.R2087H	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2213						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)		CCTTCGCCACGCCACCCTGAT	0.537												
HMGCR	3156	broad.mit.edu	37	5	74655088	74655088	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:74655088G>A	uc003kdp.2	+	17	2407	c.2251G>A	c.(2251-2253)GCC>ACC	p.A751T	HMGCR_uc011cst.1_Missense_Mutation_p.A771T|HMGCR_uc003kdq.2_Missense_Mutation_p.A698T|HMGCR_uc010izo.2_Missense_Mutation_p.A74T|HMGCR_uc010izp.2_Intron	NM_000859	NP_000850	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-Coenzyme A reductase	751	Catalytic.				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)	AGGCTACAACGCCCATGCAGC	0.468												
SV2C	22987	broad.mit.edu	37	5	75596664	75596664	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:75596664T>A	uc003kei.1	+	11	1881	c.1747T>A	c.(1747-1749)TAT>AAT	p.Y583N		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	583	Helical; (Potential).				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			skin(1)	1		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CTACTGGATTTATTTTGTCAA	0.393												
WDR41	55255	broad.mit.edu	37	5	76788019	76788019	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:76788019G>A	uc003kff.1	-	1	314	c.27C>T	c.(25-27)GGC>GGT	p.G9G	WDR41_uc011csy.1_Silent_p.G9G|WDR41_uc011csz.1_Silent_p.G9G|WDR41_uc011cta.1_RNA|WDR41_uc011ctb.1_RNA	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	9											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)		GCGGTTCTCGGCCTCCCCCGA	0.697												
BHMT2	23743	broad.mit.edu	37	5	78379171	78379171	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:78379171T>C	uc003kft.2	+	6	778	c.755T>C	c.(754-756)TTT>TCT	p.F252S	BHMT2_uc011cth.1_Missense_Mutation_p.F188S	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	betaine-homocysteine methyltransferase 2	252	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	AAAGAGGGGTTTGTGGATCTC	0.512												
JMY	133746	broad.mit.edu	37	5	78596523	78596523	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:78596523A>G	uc003kfx.3	+	6	2238	c.1718A>G	c.(1717-1719)TAT>TGT	p.Y573C	JMY_uc003kfw.1_Missense_Mutation_p.Y219C	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	junction-mediating and regulatory protein	573					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity				0		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		GTGGTATACTATGACACTTAC	0.289												
RPS23	6228	broad.mit.edu	37	5	81573573	81573573	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:81573573C>T	uc003khu.2	-	2	196	c.103G>A	c.(103-105)GCC>ACC	p.A35T	ATP6AP1L_uc003khv.2_5'Flank	NM_001025	NP_001016	P62266	RS23_HUMAN	ribosomal protein S23	35					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome				0		Lung NSC(167;0.0025)|all_lung(232;0.00278)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-42)|Epithelial(54;8.38e-37)|all cancers(79;1.42e-31)		GCCTTTAGGGCTGTGCCCAAA	0.463												
VCAN	1462	broad.mit.edu	37	5	82833950	82833950	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:82833950G>A	uc003kii.3	+	8	5484	c.5128G>A	c.(5128-5130)GAC>AAC	p.D1710N	VCAN_uc003kij.3_Missense_Mutation_p.D723N|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.D374N	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1710	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)		AAGTGAAACAGACACTTCTGA	0.423												
EDIL3	10085	broad.mit.edu	37	5	83402507	83402507	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:83402507G>A	uc003kio.1	-	6	1030	c.611C>T	c.(610-612)GCG>GTG	p.A204V	EDIL3_uc003kip.1_Missense_Mutation_p.A194V	NM_005711	NP_005702	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like	204	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			skin(2)	2		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		AGCTGTCCACGCATTTATAAG	0.418												
NR2F1	7025	broad.mit.edu	37	5	92923897	92923897	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:92923897C>T	uc003kkj.2	+	2	2425	c.738C>T	c.(736-738)ACC>ACT	p.T246T		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	246					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			urinary_tract(1)|ovary(1)|lung(1)	3		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		TGCAGATCACCGACCAGGTGT	0.662												
SPATA9	83890	broad.mit.edu	37	5	95011143	95011143	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:95011143C>T	uc003klj.1	-	3	507	c.351G>A	c.(349-351)GCG>GCA	p.A117A	SPATA9_uc010jbh.1_RNA|SPATA9_uc003klh.1_RNA|SPATA9_uc003kli.1_Intron	NM_031952	NP_114158	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	117					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane					0		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		GTTGCCTCGGCGCATTAACTT	0.408												
ST8SIA4	7903	broad.mit.edu	37	5	100222222	100222222	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:100222222A>G	uc003knk.2	-	3	656	c.328T>C	c.(328-330)TAT>CAT	p.Y110H	ST8SIA4_uc003knl.2_Missense_Mutation_p.Y110H	NM_005668	NP_005659	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide	110	Lumenal (Potential).				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			large_intestine(1)|central_nervous_system(1)	2		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TCAAGCACATAGTGTATGACA	0.428												
NUDT12	83594	broad.mit.edu	37	5	102890483	102890483	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:102890483G>A	uc003koi.2	-	5	1129	c.1036C>T	c.(1036-1038)CCC>TCC	p.P346S	NUDT12_uc011cvb.1_Missense_Mutation_p.P328S	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN	nudix-type motif 12	346	Nudix hydrolase.					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity				0		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		ATGCCTGGGGGAAATCTTTTC	0.328												
FAM170A	340069	broad.mit.edu	37	5	118965518	118965518	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:118965518G>A	uc003ksm.2	+	1	265	c.55G>A	c.(55-57)GCT>ACT	p.A19T	FAM170A_uc003ksl.2_Missense_Mutation_p.A19T|FAM170A_uc003ksn.2_Missense_Mutation_p.A19T|FAM170A_uc003kso.2_Missense_Mutation_p.A19T	NM_182761	NP_877438	A1A519	F170A_HUMAN	family with sequence similarity 170, member A	19						intracellular	zinc ion binding			skin(1)	1						CCAGGAAACCGCTGAGAAGGG	0.433												
ZNF608	57507	broad.mit.edu	37	5	124036739	124036739	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:124036739A>G	uc003ktq.1	-	2	1253	c.1130T>C	c.(1129-1131)TTG>TCG	p.L377S	ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Missense_Mutation_p.L377S|ZNF608_uc003ktt.1_Missense_Mutation_p.L377S	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	377						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GATCCCTTCCAAATTCACACT	0.448												
MEGF10	84466	broad.mit.edu	37	5	126781226	126781226	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:126781226G>A	uc003kuh.3	+	21	2931	c.2569G>A	c.(2569-2571)GGG>AGG	p.G857R	MEGF10_uc003kui.3_Missense_Mutation_p.G857R	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	857	Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTACCAGATCGGGGCCATTGC	0.433												
ADAMTS19	171019	broad.mit.edu	37	5	128983558	128983558	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:128983558G>A	uc003kvb.1	+	12	1955	c.1955G>A	c.(1954-1956)GGG>GAG	p.G652E	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	652	TSP type-1 1.				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)		TGCAGTGCTGGGATCAGCAGT	0.517												
RAPGEF6	51735	broad.mit.edu	37	5	130846113	130846113	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:130846113G>A	uc003kvn.1	-	8	905	c.699C>T	c.(697-699)GAC>GAT	p.D233D	RAPGEF6_uc003kvp.1_Silent_p.D283D|RAPGEF6_uc003kvo.1_Silent_p.D233D|RAPGEF6_uc010jdi.1_Silent_p.D233D|RAPGEF6_uc010jdj.1_Silent_p.D233D|RAPGEF6_uc003kvq.2_5'Flank|RAPGEF6_uc003kvr.2_Silent_p.D233D|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Silent_p.D233D	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	233					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)		CTTCCTCTTCGTCATCCTCAG	0.433												
PPP2CA	5515	broad.mit.edu	37	5	133536739	133536739	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:133536739C>T	uc003kze.2	-	4	911	c.513G>A	c.(511-513)TCG>TCA	p.S171S		NM_002715	NP_002706	P67775	PP2AA_HUMAN	protein phosphatase 2, catalytic subunit, alpha	171					ceramide metabolic process|inactivation of MAPK activity|induction of apoptosis|meiosis|negative regulation of cell growth|negative regulation of epithelial to mesenchymal transition|negative regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of protein serine/threonine kinase activity|protein dephosphorylation|regulation of cell adhesion|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction|spindle pole	metal ion binding|phosphoprotein phosphatase activity			ovary(2)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Vitamin E(DB00163)	CTATAGATGGCGAGAGACCAC	0.323												
LECT2	3950	broad.mit.edu	37	5	135283098	135283098	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:135283098C>T	uc003lbe.1	-	4	579	c.378G>A	c.(376-378)TTG>TTA	p.L126L	FBXL21_uc003lbc.2_Intron	NM_002302	NP_002293	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2 precursor	126					chemotaxis|skeletal system development	cytoplasm|extracellular space				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAACTTTCTGCAAGGGCAATA	0.383												
KLHL3	26249	broad.mit.edu	37	5	136964110	136964110	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:136964110G>A	uc010jek.2	-	13	1911	c.1467C>T	c.(1465-1467)AGC>AGT	p.S489S	KLHL3_uc011cyc.1_Silent_p.S224S|KLHL3_uc003lbr.3_Silent_p.S407S|KLHL3_uc011cyd.1_RNA	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	kelch-like 3	489	Kelch 4.					cytoplasm|cytoskeleton	actin binding|structural molecule activity				0		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		ACAGCTGTCCGCTAAGCACTC	0.448												
SLC23A1	9963	broad.mit.edu	37	5	138715412	138715412	+	Missense_Mutation	SNP	C	C	T	rs151281788	by1000genomes	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:138715412C>T	uc003leh.2	-	8	977	c.880G>A	c.(880-882)GGT>AGT	p.G294S	SLC23A1_uc003leg.2_Missense_Mutation_p.G298S	NM_005847	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (nucleobase	294					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	ATGATGTCACCACGGGCATCG	0.592												
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139887448	139887448	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:139887448C>T	uc003lfs.1	+	20	3754	c.3630C>T	c.(3628-3630)CTC>CTT	p.L1210L	ANKHD1_uc003lfq.1_Silent_p.L1229L|ANKHD1_uc003lfr.2_Silent_p.L1210L|ANKHD1_uc003lft.1_Silent_p.L421L|ANKHD1_uc003lfu.1_Silent_p.L690L|ANKHD1_uc003lfv.1_Silent_p.L287L|ANKHD1-EIF4EBP3_uc011czh.1_5'Flank|ANKHD1_uc003lfw.2_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1210						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATTGCTGCTCGATATGGGTT	0.483												
PCDHA2	56146	broad.mit.edu	37	5	140176157	140176157	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140176157C>T	uc003lhd.2	+	1	1714	c.1608C>T	c.(1606-1608)AGC>AGT	p.S536S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.S536S|PCDHA2_uc011czy.1_Silent_p.S536S	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	536	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGGTGAGCGCGCGGGATG	0.672												
PCDHA3	56145	broad.mit.edu	37	5	140181571	140181571	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140181571C>T	uc003lhf.2	+	1	789	c.789C>T	c.(787-789)ACC>ACT	p.T263T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.T263T	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	263	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGTGGTGACCGTTAACGCCA	0.413												
PCDHA3	56145	broad.mit.edu	37	5	140182272	140182272	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140182272G>A	uc003lhf.2	+	1	1490	c.1490G>A	c.(1489-1491)CGG>CAG	p.R497Q	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.R497Q	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	497	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGAACGGCGGGTGGGG	0.682												
PCDHA4	56144	broad.mit.edu	37	5	140186905	140186905	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140186905G>A	uc003lhi.2	+	1	234	c.133G>A	c.(133-135)GTG>ATG	p.V45M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.V45M|PCDHA4_uc011daa.1_Missense_Mutation_p.V45M	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	45	Cadherin 1.|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)			CGGCACCTTCGTGGGCCGCAT	0.672												
PCDHA4	56144	broad.mit.edu	37	5	140188263	140188263	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140188263G>A	uc003lhi.2	+	1	1592	c.1491G>A	c.(1489-1491)CGG>CGA	p.R497R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.R497R|PCDHA4_uc011daa.1_Silent_p.R497R	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	497	Cadherin 5.|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)			TGGTAGAGCGGCGGGTAGGGG	0.662												
PCDHA5	56143	broad.mit.edu	37	5	140203557	140203557	+	Missense_Mutation	SNP	C	C	T	rs140039635		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140203557C>T	uc003lhl.2	+	1	2197	c.2197C>T	c.(2197-2199)CGG>TGG	p.R733W	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_Missense_Mutation_p.R733W|PCDHA5_uc003lhj.1_Missense_Mutation_p.R733W	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	733	Cytoplasmic (Potential).				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)			CGTGTGCACACGGGGCAAGCC	0.662												
PCDHA6	56142	broad.mit.edu	37	5	140209209	140209209	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140209209C>T	uc003lho.2	+	1	1560	c.1533C>T	c.(1531-1533)CAC>CAT	p.H511H	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_Silent_p.H511H|PCDHA6_uc011dab.1_Silent_p.H511H	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	511	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCGGTGCACGCGGAGAGCG	0.701												
PCDHA6	56142	broad.mit.edu	37	5	140209726	140209726	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140209726G>A	uc003lho.2	+	1	2077	c.2050G>A	c.(2050-2052)GTG>ATG	p.V684M	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_uc011dab.1_Missense_Mutation_p.V684M	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	684	Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGGCGTCGGTGGGCGCCGC	0.667												
PCDHA13	56136	broad.mit.edu	37	5	140263605	140263605	+	Silent	SNP	G	G	A	rs61734917	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140263605G>A	uc003lif.2	+	1	1752	c.1752G>A	c.(1750-1752)TCG>TCA	p.S584S	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_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.S584S|PCDHA13_uc003lid.2_Silent_p.S584S	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	584	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCGCGGTCGGTGGGTGCAG	0.687												
PCDHA13	56136	broad.mit.edu	37	5	140264042	140264042	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140264042G>A	uc003lif.2	+	1	2189	c.2189G>A	c.(2188-2190)GGC>GAC	p.G730D	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_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.G730D|PCDHA13_uc003lid.2_Missense_Mutation_p.G730D	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	730	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCACCGAGGGCGCGTGCGCG	0.657												
PCDHB11	56125	broad.mit.edu	37	5	140579471	140579471	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140579471G>A	uc003liy.2	+	1	124	c.124G>A	c.(124-126)GGG>AGG	p.G42R	PCDHB11_uc011daj.1_Intron	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	42	Extracellular (Potential).|Cadherin 1.				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)			AATGCAGAGCGGGAGTTTTGT	0.517												
PCDHB11	56125	broad.mit.edu	37	5	140580614	140580614	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140580614G>A	uc003liy.2	+	1	1267	c.1267G>A	c.(1267-1269)GTC>ATC	p.V423I	PCDHB11_uc011daj.1_Missense_Mutation_p.V58I	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	423	Extracellular (Potential).|Cadherin 4.				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)			CACCATCACCGTCACCGACTT	0.502												
TAF7	6879	broad.mit.edu	37	5	140698866	140698866	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140698866G>A	uc003ljg.2	-	1	1486	c.746C>T	c.(745-747)ACG>ATG	p.T249M		NM_005642	NP_005633	Q15545	TAF7_HUMAN	TATA box-binding protein-associated factor 2F	249	Potential.				negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCTTCCTCCGTGTCAATGAT	0.443												
TAF7	6879	broad.mit.edu	37	5	140699557	140699557	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140699557G>A	uc003ljg.2	-	1	795	c.55C>T	c.(55-57)CGT>TGT	p.R19C		NM_005642	NP_005633	Q15545	TAF7_HUMAN	TATA box-binding protein-associated factor 2F	19					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGCAGACGTAAGATAAAC	0.443											OREG0016852	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PCDHGA5	56110	broad.mit.edu	37	5	140745350	140745350	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140745350G>A	uc003lju.1	+	1	1453	c.1453G>A	c.(1453-1455)GCT>ACT	p.A485T	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_uc011das.1_Missense_Mutation_p.A485T	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	485	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCGACAACGCTCGAGTCAC	0.542												
PCDHGA6	56109	broad.mit.edu	37	5	140754322	140754322	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140754322C>T	uc003ljy.1	+	1	672	c.672C>T	c.(670-672)AGC>AGT	p.S224S	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_Silent_p.S224S	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	224	Extracellular (Potential).|Cadherin 2.				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)			TCCGCTCAAGCGTCGCCCAAA	0.552												
GNPDA1	10007	broad.mit.edu	37	5	141385882	141385882	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:141385882C>T	uc003lmf.3	-	3	995	c.236G>A	c.(235-237)CGA>CAA	p.R79Q	GNPDA1_uc003lmg.3_Missense_Mutation_p.R79Q|GNPDA1_uc010jgh.2_Missense_Mutation_p.R79Q|GNPDA1_uc003lmh.3_Missense_Mutation_p.R45Q	NM_005471	NP_005462	P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	79					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity				0		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGTGGTCTCGAGGAAGGCC	0.542												
MYOZ3	91977	broad.mit.edu	37	5	150056388	150056388	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:150056388G>A	uc003lss.2	+	7	1294	c.707G>A	c.(706-708)AGA>AAA	p.R236K	MYOZ3_uc003lsr.2_Missense_Mutation_p.R236K	NM_001122853	NP_001116325	Q8TDC0	MYOZ3_HUMAN	myozenin 3	236						sarcomere	protein binding			skin(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCTTCAACAGAGTGGCCCAG	0.642												
FAT2	2196	broad.mit.edu	37	5	150948214	150948214	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:150948214G>A	uc003lue.3	-	1	292	c.279C>T	c.(277-279)TGC>TGT	p.C93C	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Silent_p.C93C	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	93	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)			TTCTTAGGAAGCAGAAGTTGC	0.512												
G3BP1	10146	broad.mit.edu	37	5	151170562	151170562	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:151170562T>A	uc003lun.2	+	4	461	c.290T>A	c.(289-291)CTT>CAT	p.L97H	G3BP1_uc010jhy.1_Missense_Mutation_p.L97H|G3BP1_uc003lum.2_Missense_Mutation_p.L97H|G3BP1_uc011dcu.1_5'UTR|G3BP1_uc010jhz.2_5'UTR	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Ras-GTPase-activating protein SH3-domain-binding	97	NTF2.				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)			GTGATGGGGCTTCTCTCTAAC	0.443												
GRIA1	2890	broad.mit.edu	37	5	153190682	153190682	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:153190682G>T	uc003lva.3	+	16	2983	c.2618G>T	c.(2617-2619)GGA>GTA	p.G873V	GRIA1_uc003luy.3_Missense_Mutation_p.G873V|GRIA1_uc003luz.3_Missense_Mutation_p.G778V|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.G793V|GRIA1_uc011dcx.1_Missense_Mutation_p.G804V|GRIA1_uc011dcy.1_Missense_Mutation_p.G883V|GRIA1_uc011dcz.1_Missense_Mutation_p.G883V	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	873	Cytoplasmic (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGCGGCAGTGGAGAGAATGGT	0.582												
ADAM19	8728	broad.mit.edu	37	5	156920119	156920119	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:156920119C>T	uc003lwz.2	-	16	1834	c.1770G>A	c.(1768-1770)GTG>GTA	p.V590V	ADAM19_uc003lww.1_Silent_p.V323V|ADAM19_uc003lwy.2_Silent_p.V189V|ADAM19_uc011ddr.1_Silent_p.V521V	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	590	Extracellular (Potential).|Cys-rich.				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)			TGTCAATGGGCACCGCGTTGG	0.607												
ATP10B	23120	broad.mit.edu	37	5	160113246	160113246	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:160113246A>G	uc003lym.1	-	6	1157	c.310T>C	c.(310-312)TTG>CTG	p.L104L	ATP10B_uc003lyp.2_Silent_p.L104L|ATP10B_uc011deg.1_Silent_p.L148L|ATP10B_uc003lyo.2_5'Flank	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	104	Helical; (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)			ATCCAGTTCAAAATCACCAGG	0.458												
GABRB2	2561	broad.mit.edu	37	5	160721153	160721153	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:160721153G>A	uc003lys.1	-	11	1692	c.1474C>T	c.(1474-1476)CGC>TGC	p.R492C	GABRB2_uc011deh.1_Missense_Mutation_p.R293C|GABRB2_uc003lyr.1_Missense_Mutation_p.R454C|GABRB2_uc003lyt.1_Missense_Mutation_p.R454C|GABRB2_uc010jiu.1_Missense_Mutation_p.R391C	NM_021911	NP_068711	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	492	Helical; (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity				0	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AAGAATATGCGGGACCACCGA	0.468												
GABRG2	2566	broad.mit.edu	37	5	161520894	161520894	+	Silent	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:161520894C>A	uc003lyz.3	+	2	526	c.168C>A	c.(166-168)GTC>GTA	p.V56V	GABRG2_uc010jjc.2_Silent_p.V56V|GABRG2_uc003lyy.3_Silent_p.V56V|GABRG2_uc011dej.1_5'UTR	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	56	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		AAACATGGGTCTTGACTCCAA	0.368												
LCP2	3937	broad.mit.edu	37	5	169689854	169689854	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:169689854T>C	uc003man.1	-	12	1017	c.810A>G	c.(808-810)CCA>CCG	p.P270P	LCP2_uc011des.1_Silent_p.P65P|LCP2_uc011det.1_Silent_p.P99P|LCP2_uc010jjo.1_Silent_p.P77P	NM_005565	NP_005556	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2	270					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		ACCTTCCCGCTGGAATCGAGG	0.428												
NKX2-5	1482	broad.mit.edu	37	5	172659583	172659583	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:172659583G>A	uc003mcm.1	-	2	1140	c.964C>T	c.(964-966)CGA>TGA	p.R322*		NM_004387	NP_004378	P52952	NKX25_HUMAN	NK2 transcription factor related, locus 5	322			R -> Q (in ASD-AVCD; somatic mutation).		adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TACCAGGCTCGGATACCATGC	0.627												
HMP19	51617	broad.mit.edu	37	5	173534316	173534316	+	Splice_Site	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:173534316G>A	uc003mcx.2	+	5	470	c.325_splice	c.e5-1	p.H109_splice	HMP19_uc011dfh.1_Splice_Site_p.S12_splice	NM_015980	NP_057064	Q9Y328	NSG2_HUMAN	HMP19 protein						dopamine receptor signaling pathway	cytoplasmic vesicle membrane|Golgi cisterna membrane|integral to membrane|multivesicular body membrane	dopamine receptor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTCTTCCCCAGCACAAACGCT	0.572												
UNC5A	90249	broad.mit.edu	37	5	176297387	176297387	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:176297387C>T	uc003mey.2	+	6	930	c.738C>T	c.(736-738)AGC>AGT	p.S246S	UNC5A_uc003mex.1_Silent_p.S246S|UNC5A_uc010jkg.1_Silent_p.S206S	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	246	TSP type-1.|Extracellular (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGCTGGAGCCCGTGGAGCA	0.687												
HK3	3101	broad.mit.edu	37	5	176314232	176314232	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:176314232G>A	uc003mfa.2	-	12	1799	c.1707C>T	c.(1705-1707)CCC>CCT	p.P569P	HK3_uc003mez.2_Silent_p.P125P	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	569	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACAGTCTCGGGAATGGAGT	0.617												
NSD1	64324	broad.mit.edu	37	5	176678848	176678848	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:176678848C>T	uc003mfr.3	+	12	4897	c.4759C>T	c.(4759-4761)CGC>TGC	p.R1587C	NSD1_uc003mft.3_Missense_Mutation_p.R1318C|NSD1_uc003mfs.1_Missense_Mutation_p.R1484C|NSD1_uc011dfx.1_Missense_Mutation_p.R1235C	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1587	PHD-type 1.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAATGAATGTCGCACAGGTAA	0.423			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)		
NSD1	64324	broad.mit.edu	37	5	176721549	176721549	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:176721549A>G	uc003mfr.3	+	23	7318	c.7180A>G	c.(7180-7182)ATT>GTT	p.I2394V	NSD1_uc003mft.3_Missense_Mutation_p.I2125V|NSD1_uc011dfx.1_Missense_Mutation_p.I2042V	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2394	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAGACTGCTCATTACTAGCAG	0.552			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)		
GRK6	2870	broad.mit.edu	37	5	176860178	176860178	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:176860178T>C	uc011dfz.1	+	6	631	c.471T>C	c.(469-471)CCT>CCC	p.P157P	GRK6_uc003mgp.2_Silent_p.P157P|GRK6_uc003mgq.2_Silent_p.P157P|GRK6_uc003mgs.1_Silent_p.P127P	NM_002082	NP_002073	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6 isoform B	157	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)|stomach(1)|breast(1)	3	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGTGGCCCCTTTTGCCGACT	0.627												
BTNL9	153579	broad.mit.edu	37	5	180475169	180475169	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:180475169C>T	uc003mmt.2	+	3	583	c.352C>T	c.(352-354)CTG>TTG	p.L118L	BTNL9_uc011dhi.1_Silent_p.L49L	NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9 precursor	118	Extracellular (Potential).|Ig-like V-type.					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)			CAGCGTGGTCCTGCAGCTTCA	0.602												
CDYL	9425	broad.mit.edu	37	6	4935952	4935952	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:4935952A>G	uc003mwi.2	+	5	1188	c.1057A>G	c.(1057-1059)ACC>GCC	p.T353A	CDYL_uc003mwj.2_Missense_Mutation_p.T299A|CDYL_uc003mwk.2_Missense_Mutation_p.T64A|CDYL_uc011dhx.1_Missense_Mutation_p.T167A|CDYL_uc011dhy.1_Missense_Mutation_p.T167A	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	353					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		GGATGGCTTCACCCACATCTT	0.512												
F13A1	2162	broad.mit.edu	37	6	6197549	6197549	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:6197549A>G	uc003mwv.2	-	9	1246	c.1123T>C	c.(1123-1125)TGC>CGC	p.C375R	F13A1_uc011dib.1_Missense_Mutation_p.C312R	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	375					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCATTCCAGCAGTGGTAGTTC	0.443												
MYLIP	29116	broad.mit.edu	37	6	16143371	16143371	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:16143371C>T	uc003nbq.2	+	4	822	c.585C>T	c.(583-585)AGC>AGT	p.S195S	MYLIP_uc003nbr.2_Silent_p.S14S	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting	195	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			pancreas(1)	1	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			TGCGGGATAGCGAAGGGCAGA	0.443												
KIF13A	63971	broad.mit.edu	37	6	17837152	17837152	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:17837152C>T	uc003ncg.3	-	11	1217	c.1112G>A	c.(1111-1113)CGG>CAG	p.R371Q	KIF13A_uc003ncf.2_Missense_Mutation_p.R371Q|KIF13A_uc003nch.3_Missense_Mutation_p.R371Q|KIF13A_uc003nci.3_Missense_Mutation_p.R371Q|KIF13A_uc003ncj.2_Missense_Mutation_p.R47Q	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	371	Potential.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GACTTCCTCCCGCAGTTCTCG	0.517												
E2F3	1871	broad.mit.edu	37	6	20481645	20481645	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:20481645C>T	uc003nda.2	+	3	1041	c.714C>T	c.(712-714)AAC>AAT	p.N238N	E2F3_uc003ncz.2_Silent_p.N232N	NM_001949	NP_001940	O00716	E2F3_HUMAN	E2F transcription factor 3	238	Potential.|DEF box.				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CTAAAAACAACGTCCAATGGA	0.478												
TDP2	51567	broad.mit.edu	37	6	24653309	24653309	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:24653309G>A	uc003nej.2	-	6	734	c.709C>T	c.(709-711)CGA>TGA	p.R237*	TDP2_uc003nei.2_Nonsense_Mutation_p.R125*|TDP2_uc010jpu.1_Nonsense_Mutation_p.R237*	NM_016614	NP_057698	O95551	TYDP2_HUMAN	TRAF and TNF receptor-associated protein	237					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			ovary(1)|lung(1)	2						TGATTCATTCGTTCCGCAGCA	0.433								Direct_reversal_of_damage|Editing_and_processing_nucleases				
LRRC16A	55604	broad.mit.edu	37	6	25600624	25600624	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:25600624A>G	uc011djw.1	+	33	3578	c.3202A>G	c.(3202-3204)AGT>GGT	p.S1068G	LRRC16A_uc010jpx.2_Missense_Mutation_p.S1068G|LRRC16A_uc010jpy.2_Missense_Mutation_p.S1068G	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1068	Inhibits capping activity of CAPZA2 (By similarity).				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						TCGGAAAAGTAGTGGCTTTCT	0.453												
HIST1H2BL	8340	broad.mit.edu	37	6	27775557	27775557	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:27775557T>C	uc003njl.2	-	1	153	c.128A>G	c.(127-129)TAC>TGC	p.Y43C	HIST1H3H_uc003njm.2_5'Flank	NM_003519	NP_003510	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	43					nucleosome assembly	nucleosome|nucleus	DNA binding				0						CAGCACCTTGTACACGTACAC	0.582												
HIST1H2BN	8341	broad.mit.edu	37	6	27806599	27806599	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:27806599G>T	uc003njv.2	+	1	160	c.160G>T	c.(160-162)GGT>TGT	p.G54C	HIST1H2AK_uc003njs.2_5'Flank|HIST1H2BN_uc003njt.1_RNA|HIST1H2BN_uc003nju.1_Missense_Mutation_p.G54C	NM_003520	NP_003511	Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	54					nucleosome assembly	nucleosome|nucleus	DNA binding				0						CCCCGACACCGGTATCTCGTC	0.592												
OR2B6	26212	broad.mit.edu	37	6	27925691	27925691	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:27925691G>C	uc011dkx.1	+	1	673	c.673G>C	c.(673-675)GTA>CTA	p.V225L		NM_012367	NP_036499	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B,	225	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TGTCCGAGCAGTATTGAGGAT	0.423												
TRIM15	89870	broad.mit.edu	37	6	30139991	30139991	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:30139991C>T	uc010jrx.2	+	7	1742	c.1263C>T	c.(1261-1263)TAC>TAT	p.Y421Y		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	tripartite motif protein 15	421	B30.2/SPRY.				mesodermal cell fate determination	intracellular	zinc ion binding				0						CCCTGGACTACGAGGCGGGGC	0.652												
C6orf136	221545	broad.mit.edu	37	6	30617500	30617500	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:30617500A>G	uc003nqw.3	+	2	431	c.238A>G	c.(238-240)AGC>GGC	p.S80G	C6orf136_uc003nqx.3_Missense_Mutation_p.S261G|C6orf136_uc011dmn.1_Intron	NM_001109938	NP_001103408	Q5SQH8	CF136_HUMAN	hypothetical protein LOC221545 isoform 1	80											0						CCAGGCCCTCAGCTCAGCATG	0.617												
LTA	4049	broad.mit.edu	37	6	31541102	31541102	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:31541102G>A	uc011dnu.1	+	4	463	c.250G>A	c.(250-252)GAC>AAC	p.D84N	LTA_uc003nue.1_Missense_Mutation_p.D84N|LTA_uc003nuf.2_Intron|LTA_uc003nuh.2_Missense_Mutation_p.D31N|LTA_uc003nug.2_Missense_Mutation_p.D31N|LTA_uc010jsr.2_Intron|TNF_uc003nui.2_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	lymphotoxin alpha precursor	84					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding				0					Etanercept(DB00005)	AGCAAACACGGACCGTGCCTT	0.567												
BAT2	7916	broad.mit.edu	37	6	31593069	31593069	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:31593069C>T	uc003nvb.3	+	6	834	c.585C>T	c.(583-585)CCC>CCT	p.P195P	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Silent_p.P195P|BAT2_uc003nve.2_Silent_p.P58P	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	195	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						CGTCTGGGCCCGGACCAAGCC	0.582												
C6orf47	57827	broad.mit.edu	37	6	31627518	31627518	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:31627518A>G	uc003nvm.1	-	1	1032	c.207T>C	c.(205-207)GCT>GCC	p.A69A		NM_021184	NP_067007	O95873	CF047_HUMAN	G4 protein	69										ovary(1)	1						GTTCGGAAGCAGCCCCAGAAA	0.542												
VARS	7407	broad.mit.edu	37	6	31760564	31760564	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:31760564A>T	uc003nxe.2	-	4	1054	c.631T>A	c.(631-633)TCA>ACA	p.S211T	VARS_uc011doi.1_RNA	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	211	GST C-terminal.				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	CTGGCTCCTGAGTATAGAACC	0.567												
SLC44A4	80736	broad.mit.edu	37	6	31838664	31838664	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:31838664C>T	uc010jti.2	-	10	928	c.862G>A	c.(862-864)GCC>ACC	p.A288T	SLC44A4_uc011dol.1_Missense_Mutation_p.A212T|SLC44A4_uc011dom.1_Missense_Mutation_p.A246T	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	choline transporter-like protein 4	288	Extracellular (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4					Choline(DB00122)	GAGATGGAGGCGCCCTTGTCC	0.657												
EHMT2	10919	broad.mit.edu	37	6	31852688	31852688	+	Splice_Site	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:31852688C>T	uc003nxz.1	-	19	2458	c.2448_splice	c.e19+1	p.N816_splice	EHMT2_uc003nxv.1_5'Flank|EHMT2_uc003nxw.1_5'Flank|EHMT2_uc003nxx.1_Intron|EHMT2_uc003nxy.1_Missense_Mutation_p.V608M|EHMT2_uc011don.1_Splice_Site_p.N839_splice|EHMT2_uc003nya.1_Splice_Site_p.N782_splice	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2						DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						CGCTCACTCACGTTGTCAGTG	0.637												
STK19	8859	broad.mit.edu	37	6	31939920	31939920	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:31939920C>T	uc003nyv.2	+	1	275	c.147C>T	c.(145-147)GTC>GTT	p.V49V	DOM3Z_uc003nyo.1_5'UTR|DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc003nyr.1_5'UTR|DOM3Z_uc003nys.1_5'Flank|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.2_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.1_Silent_p.V49V|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.2_Silent_p.V49V|STK19_uc010jtn.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	serine/threonine kinase 19 isoform 2	49						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(4)	4						GCCAACGAGTCCCCGGGCGTG	0.731												
TNXB	7148	broad.mit.edu	37	6	32039796	32039796	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:32039796C>T	uc003nzl.2	-	13	5163	c.4961G>A	c.(4960-4962)CGC>CAC	p.R1654H		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	1736	Fibronectin type-III 9.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GACTGGGCTGCGTCGTTTCCC	0.607												
TNXB	7148	broad.mit.edu	37	6	32039876	32039876	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:32039876C>A	uc003nzl.2	-	13	5083	c.4881G>T	c.(4879-4881)CAG>CAT	p.Q1627H		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	1709	Fibronectin type-III 9.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						TGACCTCCCGCTGATCTGCAG	0.597												
TNXB	7148	broad.mit.edu	37	6	32065871	32065871	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:32065871T>C	uc003nzl.2	-	2	307	c.105A>G	c.(103-105)CCA>CCG	p.P35P	TNXB_uc010jts.1_Silent_p.P34P|ATF6B_uc003nzm.1_3'UTR	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	35					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GCCGGGGGGCTGGCAGTGTCA	0.642												
PPT2	9374	broad.mit.edu	37	6	32123717	32123717	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:32123717C>A	uc003nzx.2	+	5	1071	c.503C>A	c.(502-504)CCC>CAC	p.P168H	PRRT1_uc003nzu.2_5'Flank|uc003nzv.3_5'Flank|PPT2_uc003nzw.2_Missense_Mutation_p.P174H|PPT2_uc011dpi.1_RNA|PPT2_uc003nzy.1_RNA|PPT2_uc003nzz.2_Missense_Mutation_p.P168H|PPT2_uc003oaa.2_Missense_Mutation_p.P168H|PPT2_uc010jtu.1_Missense_Mutation_p.P168H	NM_005155	NP_005146	Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2 isoform a	168					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity				0						TGCTATAGCCCCTGGGGCCAG	0.547												
EGFL8	80864	broad.mit.edu	37	6	32135028	32135028	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:32135028G>A	uc003oab.1	+	6	653	c.595G>A	c.(595-597)GTG>ATG	p.V199M	PPT2_uc003nzy.1_RNA|EGFL8_uc003oac.1_Missense_Mutation_p.V199M	NM_030652	NP_085155	Q99944	EGFL8_HUMAN	NG3 protein precursor	199	Potential.					extracellular region|integral to membrane	calcium ion binding				0						CATACTCAGCGTGGCCGGTGA	0.667												
GPSM3	63940	broad.mit.edu	37	6	32159535	32159535	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:32159535C>T	uc003oay.3	-	3	689	c.296G>A	c.(295-297)CGT>CAT	p.R99H	PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.2_5'Flank|GPSM3_uc003oax.3_Missense_Mutation_p.R76H|GPSM3_uc003oaz.2_Missense_Mutation_p.R99H	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3 (AGS3-like, C.	99					signal transduction	cytoplasm	GTPase activator activity|protein binding				0						CTCGAGAGGACGGAGTGGGGC	0.632												
NOTCH4	4855	broad.mit.edu	37	6	32168997	32168997	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:32168997G>A	uc003obb.2	-	22	4175	c.4036C>T	c.(4036-4038)CGG>TGG	p.R1346W	NOTCH4_uc003oba.2_Missense_Mutation_p.R9W|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1346	Extracellular (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						TCTTCAGCCCGGGCCCCAGGA	0.622												
PSMB8	5696	broad.mit.edu	37	6	32809478	32809478	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:32809478G>T	uc003oce.2	-	5	615	c.572C>A	c.(571-573)ACT>AAT	p.T191N	TAP2_uc011dqf.1_5'Flank|TAP2_uc003ocb.1_5'Flank|TAP2_uc003ocd.2_5'Flank|PSMB8_uc003ocf.2_Missense_Mutation_p.T187N	NM_148919	NP_683720	P28062	PSB8_HUMAN	proteasome beta 8 subunit isoform E2 proprotein	191					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			skin(1)	1						TGAGAGCCGAGTCCCATGTTC	0.488												
ITPR3	3710	broad.mit.edu	37	6	33638235	33638235	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:33638235G>A	uc011drk.1	+	19	2542	c.2323G>A	c.(2323-2325)GCC>ACC	p.A775T		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	775	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						TGACCTGCGCGCCTCCTTCTG	0.627												
UHRF1BP1	54887	broad.mit.edu	37	6	34826613	34826613	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:34826613G>A	uc003oju.3	+	14	2714	c.2480G>A	c.(2479-2481)CGC>CAC	p.R827H	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	827										ovary(3)	3						GCCCATGTCCGCGTGAGGCTT	0.527												
SCUBE3	222663	broad.mit.edu	37	6	35200656	35200656	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:35200656G>A	uc003okf.1	+	5	505	c.499G>A	c.(499-501)GGC>AGC	p.G167S	SCUBE3_uc003okg.1_Missense_Mutation_p.G166S|SCUBE3_uc003okh.1_Missense_Mutation_p.G38S	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	167	EGF-like 4.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1						CAAGAACCACGGCTGTGCCCA	0.493												
DNAH8	1769	broad.mit.edu	37	6	38828371	38828371	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:38828371A>G	uc003ooe.1	+	41	6046	c.5446A>G	c.(5446-5448)ACT>GCT	p.T1816A		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TCTGGGATGTACTGATCGTCT	0.294												
TREML1	340205	broad.mit.edu	37	6	41121543	41121543	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:41121543C>T	uc011duc.1	-	2	373	c.329G>A	c.(328-330)AGG>AAG	p.R110K	TREML1_uc003opx.2_Missense_Mutation_p.R110K|TREML1_uc011dud.1_Intron	NM_178174	NP_835468	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid	110	Ig-like V-type.|Extracellular (Potential).				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(1)	1	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTGGGGCCCCCTGGCCCCATC	0.602												
FOXP4	116113	broad.mit.edu	37	6	41558999	41558999	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:41558999A>G	uc003oql.2	+	13	1933	c.1475A>G	c.(1474-1476)GAG>GGG	p.E492G	FOXP4_uc003oqm.2_Missense_Mutation_p.E490G|FOXP4_uc003oqn.2_Missense_Mutation_p.E479G	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	forkhead box P4 isoform 1	492	Fork-head.				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|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			breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					ACCCTGAATGAGATCTATAAC	0.592												
GUCA1A	2978	broad.mit.edu	37	6	42146094	42146094	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:42146094G>A	uc003orx.2	+	4	923	c.278G>A	c.(277-279)CGC>CAC	p.R93H	GUCA1A_uc011duo.1_RNA|GUCA1A_uc010jxt.2_Missense_Mutation_p.R93H	NM_000409	NP_000400	P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	93	EF-hand 3.				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)			CAGAAGCTCCGCTGGTACTTC	0.617												
CUL9	23113	broad.mit.edu	37	6	43167106	43167106	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:43167106C>T	uc003ouk.2	+	13	3228	c.3153C>T	c.(3151-3153)TCC>TCT	p.S1051S	CUL9_uc003oul.2_Silent_p.S1051S|CUL9_uc010jyk.2_Silent_p.S203S	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	1051					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						GCAGTGACTCCGAGGTACCAG	0.592												
CUL9	23113	broad.mit.edu	37	6	43167827	43167827	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:43167827C>T	uc003ouk.2	+	14	3392	c.3317C>T	c.(3316-3318)ACA>ATA	p.T1106I	CUL9_uc003oul.2_Missense_Mutation_p.T1106I|CUL9_uc010jyk.2_Missense_Mutation_p.T258I	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	1106					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						GACCTGGTGACAGAGTGTGAG	0.582												
ZNF318	24149	broad.mit.edu	37	6	43322422	43322422	+	Missense_Mutation	SNP	G	G	A	rs146670568		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:43322422G>A	uc003oux.2	-	4	2728	c.2650C>T	c.(2650-2652)CGT>TGT	p.R884C	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	884	Potential.				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)			TGGGAAGCACGGTTCTTCTCA	0.443												
CDC5L	988	broad.mit.edu	37	6	44376250	44376250	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:44376250G>A	uc003oxl.2	+	8	1232	c.973G>A	c.(973-975)GAG>AAG	p.E325K		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	325	Interaction with PPP1R8.				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)			TCAAACTGCCGAGGAATCTGG	0.428												
DST	667	broad.mit.edu	37	6	56382029	56382029	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:56382029G>A	uc003pdf.2	-	65	11995	c.11967C>T	c.(11965-11967)ACC>ACT	p.T3989T	DST_uc003pcz.3_Silent_p.T3811T|DST_uc011dxj.1_Silent_p.T3840T|DST_uc011dxk.1_Silent_p.T3851T|DST_uc003pcy.3_Silent_p.T3485T	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5897	Spectrin 10.				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)			CACTGCATGCGGTCATGATTT	0.388												
KIAA1586	57691	broad.mit.edu	37	6	56917834	56917834	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:56917834T>C	uc003pdj.2	+	4	707	c.537T>C	c.(535-537)CAT>CAC	p.H179H	KIAA1586_uc011dxm.1_Silent_p.H152H	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	hypothetical protein LOC57691	179							nucleic acid binding				0	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AGCATGTCCATGTGTCCAAGG	0.368												
BAI3	577	broad.mit.edu	37	6	70042837	70042837	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:70042837T>G	uc003pev.3	+	24	3573	c.3125T>G	c.(3124-3126)TTG>TGG	p.L1042W	BAI3_uc010kak.2_Missense_Mutation_p.L1042W|BAI3_uc011dxx.1_Missense_Mutation_p.L248W|BAI3_uc003pex.1_Missense_Mutation_p.L172W	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1042	Helical; Name=5; (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)				ATTGGCATTTTGGTATTTAAT	0.373												
OGFRL1	79627	broad.mit.edu	37	6	72011673	72011673	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:72011673A>G	uc003pfx.1	+	7	1440	c.1277A>G	c.(1276-1278)AAC>AGC	p.N426S		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	426						membrane	receptor activity				0						CCTGAGAATAACGAAGAAGGT	0.373												
KCNQ5	56479	broad.mit.edu	37	6	73787159	73787159	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:73787159G>A	uc003pgk.2	+	4	1078	c.731G>A	c.(730-732)CGC>CAC	p.R244H	KCNQ5_uc003pgj.3_Missense_Mutation_p.R244H|KCNQ5_uc011dyh.1_Missense_Mutation_p.R244H|KCNQ5_uc011dyi.1_Missense_Mutation_p.R244H|KCNQ5_uc010kat.2_Missense_Mutation_p.R244H|KCNQ5_uc011dyj.1_Missense_Mutation_p.R244H|KCNQ5_uc011dyk.1_Missense_Mutation_p.R3H	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	244	Helical; Voltage-sensor; Name=Segment S4; (Potential).		R -> C (in a colorectal cancer sample; somatic mutation).		protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.R244C(1)		ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CGCATGGTGCGCATGGACCGA	0.438												
FILIP1	27145	broad.mit.edu	37	6	76022149	76022149	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:76022149C>T	uc003pia.2	-	5	3772	c.3399G>A	c.(3397-3399)CCG>CCA	p.P1133P	FILIP1_uc003phy.1_Silent_p.P1133P|FILIP1_uc003phz.2_Silent_p.P1034P|FILIP1_uc010kbe.2_Silent_p.P1136P|FILIP1_uc003pib.1_Silent_p.P885P	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1133										skin(3)|ovary(1)	4						ACGTTGTGACCGGTGTTATGG	0.562												
KIAA1009	22832	broad.mit.edu	37	6	84872863	84872863	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:84872863C>A	uc010kbp.2	-	19	2609	c.2512G>T	c.(2512-2514)GGT>TGT	p.G838C	KIAA1009_uc003pkj.3_Missense_Mutation_p.G762C|KIAA1009_uc003pki.3_Missense_Mutation_p.G224C	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	838	Potential.				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		AGTGTTTTACCTGTGACATAA	0.338												
AKIRIN2	55122	broad.mit.edu	37	6	88391397	88391397	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:88391397G>A	uc003pmk.2	-	2	903	c.320C>T	c.(319-321)CCG>CTG	p.P107L		NM_018064	NP_060534	Q53H80	AKIR2_HUMAN	akirin 2	107					innate immune response|transcription, DNA-dependent	transcriptional repressor complex					0						AGTACAACACGGATCTGTCTG	0.343												
CNR1	1268	broad.mit.edu	37	6	88854349	88854349	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:88854349G>A	uc011dzq.1	-	2	4208	c.645C>T	c.(643-645)TAC>TAT	p.Y215Y	CNR1_uc010kbz.2_Silent_p.Y215Y|CNR1_uc011dzr.1_Silent_p.Y215Y|CNR1_uc011dzs.1_Silent_p.Y215Y|CNR1_uc003pmq.3_Silent_p.Y215Y|CNR1_uc011dzt.1_Silent_p.Y215Y|CNR1_uc010kca.2_Silent_p.Y182Y	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	215	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GAATGGATATGTACCTGTCGA	0.572												
BACH2	60468	broad.mit.edu	37	6	90660960	90660960	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:90660960T>C	uc011eab.1	-	7	1674	c.865A>G	c.(865-867)ATC>GTC	p.I289V	BACH2_uc003pnw.2_Missense_Mutation_p.I289V|BACH2_uc010kch.2_Missense_Mutation_p.I289V	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	289						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CAGAGCGTGATGCTCTCTTCC	0.602												
MAP3K7	6885	broad.mit.edu	37	6	91257878	91257878	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:91257878G>A	uc003pnz.1	-	10	1130	c.968C>T	c.(967-969)GCT>GTT	p.A323V	MAP3K7_uc003poa.1_Missense_Mutation_p.A323V|MAP3K7_uc003pob.1_Missense_Mutation_p.A323V|MAP3K7_uc003poc.1_Missense_Mutation_p.A323V	NM_145331	NP_663304	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	323					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|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|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		ATTTGTAGAAGCAATGTCCAT	0.333												
SIM1	6492	broad.mit.edu	37	6	100897523	100897523	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:100897523T>C	uc003pqj.3	-	4	608	c.401A>G	c.(400-402)GAC>GGC	p.D134G	SIM1_uc010kcu.2_Missense_Mutation_p.D134G	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	134	PAS 1.				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)		CGTCATCTCGTCGTGGTCTGC	0.592												
ARMC2	84071	broad.mit.edu	37	6	109274297	109274297	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:109274297G>A	uc003pss.3	+	13	1832	c.1658G>A	c.(1657-1659)CGT>CAT	p.R553H	ARMC2_uc011eao.1_Missense_Mutation_p.R388H	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	553	ARM 7.						binding				0		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		AACCAGGCTCGTGAACAATTT	0.458												
DDO	8528	broad.mit.edu	37	6	110736691	110736691	+	Missense_Mutation	SNP	T	T	C	rs151067781	by1000genomes	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:110736691T>C	uc003puc.2	-	1	63	c.59A>G	c.(58-60)CAA>CGA	p.Q20R	DDO_uc003pud.2_Missense_Mutation_p.Q20R	NM_003649	NP_003640	Q99489	OXDD_HUMAN	D-aspartate oxidase isoform a	Error:Variant_position_missing_in_Q99489_after_alignment					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			ovary(2)|breast(1)	3		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		AAAGCAGTCTTGGAAGCCACC	0.502												
TUBE1	51175	broad.mit.edu	37	6	112397615	112397615	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:112397615C>A	uc003pvq.2	-	7	660	c.546G>T	c.(544-546)GAG>GAT	p.E182D	TUBE1_uc003pvr.2_Missense_Mutation_p.E107D	NM_016262	NP_057346	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	182					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			ovary(1)	1		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TGACATCATCCTCACCAGAAG	0.398												
LAMA4	3910	broad.mit.edu	37	6	112430768	112430768	+	Missense_Mutation	SNP	G	G	A	rs145897390	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:112430768G>A	uc003pvu.2	-	39	5653	c.5344C>T	c.(5344-5346)CGC>TGC	p.R1782C	LAMA4_uc003pvv.2_Missense_Mutation_p.R1775C|LAMA4_uc003pvt.2_Missense_Mutation_p.R1775C	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	1782	Laminin G-like 5.				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)		GGGGCCAAGCGTGGTGTCAGT	0.463												
RSPH4A	345895	broad.mit.edu	37	6	116938220	116938220	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:116938220C>T	uc003pxe.2	+	1	579	c.434C>T	c.(433-435)TCA>TTA	p.S145L	RSPH4A_uc010kee.2_Missense_Mutation_p.S145L	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A isoform 1	145					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke					0						ACAAGCCAGTCAGAAGGAAAC	0.463									Kartagener_syndrome			
CLVS2	134829	broad.mit.edu	37	6	123369846	123369846	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:123369846G>A	uc003pzi.1	+	4	1513	c.644G>A	c.(643-645)CGG>CAG	p.R215Q		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	retinaldehyde binding protein 1-like 2	215	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						ACCGTGATCCGGCCTTTCCTG	0.393												
PTPRK	5796	broad.mit.edu	37	6	128297831	128297831	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:128297831G>A	uc003qbk.2	-	27	4304	c.3937C>T	c.(3937-3939)CGG>TGG	p.R1313W	PTPRK_uc003qbj.2_Missense_Mutation_p.R1314W|PTPRK_uc010kfc.2_Missense_Mutation_p.R1320W|PTPRK_uc011ebu.1_Missense_Mutation_p.R1336W	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1313	Tyrosine-protein phosphatase 2.|Cytoplasmic (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)		CTAAAAATCCGGTTGATCACA	0.428												
TMEM200A	114801	broad.mit.edu	37	6	130762848	130762848	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:130762848C>T	uc003qca.2	+	3	2152	c.1281C>T	c.(1279-1281)AGC>AGT	p.S427S	TMEM200A_uc010kfh.2_Silent_p.S427S|TMEM200A_uc010kfi.2_Silent_p.S427S|TMEM200A_uc003qcb.2_Silent_p.S427S	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	427	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GGAACAACAGCAAGGGATATA	0.468												
EYA4	2070	broad.mit.edu	37	6	133783564	133783564	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:133783564G>A	uc003qec.3	+	8	987	c.529G>A	c.(529-531)GTC>ATC	p.V177I	EYA4_uc011ecq.1_Missense_Mutation_p.V123I|EYA4_uc011ecr.1_Missense_Mutation_p.V123I|EYA4_uc003qed.3_Missense_Mutation_p.V177I|EYA4_uc003qee.3_Missense_Mutation_p.V154I|EYA4_uc011ecs.1_Missense_Mutation_p.V177I|uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	177					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GCAGCCAGCCGTCTACACAGC	0.488												
KIAA1244	57221	broad.mit.edu	37	6	138645253	138645253	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:138645253G>A	uc003qhu.2	+	31	4963	c.4963G>A	c.(4963-4965)GAG>AAG	p.E1655K		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1655					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)		CCCAAGTGCCGAGGCCGAGTA	0.647												
HECA	51696	broad.mit.edu	37	6	139488112	139488112	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:139488112C>T	uc003qin.2	+	2	1248	c.963C>T	c.(961-963)CAC>CAT	p.H321H		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	headcase	321					respiratory tube development						0				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GAAATGCCCACTTTGATTACA	0.597												
TXLNB	167838	broad.mit.edu	37	6	139591652	139591652	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:139591652C>T	uc011eds.1	-	4	793	c.628G>A	c.(628-630)GCT>ACT	p.A210T		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	taxilin beta	210	Potential.					cytoplasm				large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TTGCTTCGAGCGAGGATAGCT	0.438												
HIVEP2	3097	broad.mit.edu	37	6	143093401	143093401	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:143093401G>A	uc003qjd.2	-	5	3218	c.2475C>T	c.(2473-2475)TGC>TGT	p.C825C		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	825					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TATCCTGTGTGCAAGCCACAA	0.512												
STX11	8676	broad.mit.edu	37	6	144507854	144507854	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:144507854C>T	uc003qks.3	+	2	282	c.90C>T	c.(88-90)CAC>CAT	p.H30H		NM_003764	NP_003755	O75558	STX11_HUMAN	syntaxin 11	30					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		ACTCGCCCCACGAGGACATCG	0.552									Familial_Hemophagocytic_Lymphohistiocytosis			
FBXO30	84085	broad.mit.edu	37	6	146127423	146127423	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:146127423A>G	uc003qla.2	-	2	318	c.119T>C	c.(118-120)GTT>GCT	p.V40A	uc003qky.1_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	F-box only protein 30	40							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)		AGAATGGAAAACTGCACCACA	0.448												
SHPRH	257218	broad.mit.edu	37	6	146247425	146247425	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:146247425T>C	uc003qlf.2	-	16	3608	c.3209A>G	c.(3208-3210)CAT>CGT	p.H1070R	SHPRH_uc003qld.2_Missense_Mutation_p.H1079R|SHPRH_uc003qle.2_Missense_Mutation_p.H1079R|SHPRH_uc003qlg.1_Missense_Mutation_p.H626R|SHPRH_uc003qlh.2_5'UTR|SHPRH_uc003qli.1_5'UTR	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	1070					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)		ATGGGTAGCATGAAGTCTCTA	0.413												
STXBP5	134957	broad.mit.edu	37	6	147704088	147704088	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:147704088C>T	uc003qlz.2	+	27	3529	c.3368C>T	c.(3367-3369)GCG>GTG	p.A1123V	STXBP5_uc010khz.1_Missense_Mutation_p.A1087V|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.A778V	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	1123	v-SNARE coiled-coil homology.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GAAAGAACTGCGGCCATGTTA	0.448												
PLEKHG1	57480	broad.mit.edu	37	6	151161754	151161754	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:151161754C>T	uc003qny.1	+	17	4192	c.3880C>T	c.(3880-3882)CTA>TTA	p.L1294L	PLEKHG1_uc011eem.1_Silent_p.L1353L	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	1294					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GGAGTTGGAGCTATCTCACAA	0.388												
MTHFD1L	25902	broad.mit.edu	37	6	151334921	151334921	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:151334921G>A	uc003qob.2	+	22	2540	c.2272G>A	c.(2272-2274)GCT>ACT	p.A758T	MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Missense_Mutation_p.A759T|MTHFD1L_uc003qoc.2_Missense_Mutation_p.A706T	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+	758	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)		TCAGGTAACGGCTGGTGTTCC	0.353												
ARID1B	57492	broad.mit.edu	37	6	157405929	157405929	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:157405929C>T	uc003qqn.2	+	5	2110	c.1958C>T	c.(1957-1959)GCG>GTG	p.A653V	ARID1B_uc003qqo.2_Missense_Mutation_p.A666V|ARID1B_uc003qqp.2_Missense_Mutation_p.A653V|ARID1B_uc003qqq.1_Missense_Mutation_p.A95V	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	711	Ser-rich.				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)		TCCCCACATGCGTCCCCTCAT	0.612												
SYNJ2	8871	broad.mit.edu	37	6	158490659	158490659	+	Missense_Mutation	SNP	G	G	A	rs144180367	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:158490659G>A	uc003qqx.1	+	14	1969	c.1894G>A	c.(1894-1896)GTC>ATC	p.V632I	SYNJ2_uc003qqw.1_Missense_Mutation_p.V632I|SYNJ2_uc003qqy.1_Missense_Mutation_p.V345I|SYNJ2_uc003qqz.1_Missense_Mutation_p.V249I|SYNJ2_uc003qra.1_5'Flank	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	632	Catalytic (By similarity).						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GCTGGTGGGCGTCTGTCTTTA	0.453												
TULP4	56995	broad.mit.edu	37	6	158834180	158834180	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:158834180C>T	uc003qrf.2	+	2	1693	c.336C>T	c.(334-336)TAC>TAT	p.Y112Y	TULP4_uc011efo.1_Silent_p.Y112Y|TULP4_uc003qrg.2_Silent_p.Y112Y	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	112	WD 1.				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)		GGATTCAGTACGAGGGCAGGT	0.612												
TULP4	56995	broad.mit.edu	37	6	158923412	158923412	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:158923412G>A	uc003qrf.2	+	13	4074	c.2717G>A	c.(2716-2718)CGG>CAG	p.R906Q	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	906					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)		CCCCGCACCCGGATGCTGTGC	0.652												
PNLDC1	154197	broad.mit.edu	37	6	160227084	160227084	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:160227084A>G	uc003qsx.1	+	7	669	c.498A>G	c.(496-498)GAA>GAG	p.E166E	PNLDC1_uc003qsy.1_Silent_p.E177E	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain	166	Cytoplasmic (Potential).					integral to membrane|nucleus	nucleic acid binding				0		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TGGCCAAGGAAGGCGACTGGA	0.562												
AGPAT4	56895	broad.mit.edu	37	6	161560485	161560485	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:161560485C>T	uc003qtr.1	-	8	1238	c.1011G>A	c.(1009-1011)ACG>ACA	p.T337T	AGPAT4_uc003qts.1_Silent_p.T197T|AGPAT4_uc011egb.1_Silent_p.T175T	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	337					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding				0		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		AGCTGGCCAGCGTCAGGGAAG	0.622												
AGPAT4	56895	broad.mit.edu	37	6	161587387	161587387	+	Missense_Mutation	SNP	C	C	T	rs115923077	by1000genomes	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:161587387C>T	uc003qtr.1	-	3	468	c.241G>A	c.(241-243)GCC>ACC	p.A81T	AGPAT4_uc003qts.1_Intron|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_RNA|AGPAT4_uc011egc.1_Missense_Mutation_p.A81T|AGPAT4_uc011egd.1_Missense_Mutation_p.A19T|AGPAT4_uc011ege.1_Intron	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	81					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding				0		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		TTGAGGTAGGCGCGCGGGTCC	0.527												
UNC93A	54346	broad.mit.edu	37	6	167721271	167721271	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:167721271G>A	uc003qvq.2	+	7	1156	c.981G>A	c.(979-981)GCG>GCA	p.A327A	UNC93A_uc003qvr.2_Silent_p.A285A	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	327	Helical; (Potential).					integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCCCAGGCGCGGTGACCCACG	0.627												
MLLT4	4301	broad.mit.edu	37	6	168315892	168315892	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:168315892C>T	uc003qwd.2	+	18	2462	c.2320C>T	c.(2320-2322)CGC>TGC	p.R774C	MLLT4_uc003qwb.1_Missense_Mutation_p.R759C|MLLT4_uc003qwc.1_Missense_Mutation_p.R775C|MLLT4_uc003qwg.1_Missense_Mutation_p.R84C	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	775	Dilute.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTTGCTACGACGCTGCAGAGT	0.527			T	MLL	AL							
THBS2	7058	broad.mit.edu	37	6	169648753	169648753	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:169648753G>A	uc003qwt.2	-	4	616	c.368C>T	c.(367-369)ACG>ATG	p.T123M		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	123	TSP N-terminal.|Heparin-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GAGATCCAGCGTGTCCGCGGG	0.652												
ADAP1	11033	broad.mit.edu	37	7	939112	939112	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:939112G>A	uc003sjo.3	-	9	987	c.811C>T	c.(811-813)CGG>TGG	p.R271W	ADAP1_uc003sjm.3_Missense_Mutation_p.R97W|ADAP1_uc011jvs.1_Missense_Mutation_p.R176W|ADAP1_uc003sjn.3_Missense_Mutation_p.R199W|ADAP1_uc010ksc.2_Missense_Mutation_p.R199W	NM_006869	NP_006860	O75689	ADAP1_HUMAN	centaurin, alpha 1	271	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						CAGCGCTTCCGGAAGCCTTCC	0.652												
ZDHHC4	55146	broad.mit.edu	37	7	6620233	6620233	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:6620233T>C	uc003sqi.2	+	4	399	c.41T>C	c.(40-42)GTG>GCG	p.V14A	ZDHHC4_uc003sqg.2_Missense_Mutation_p.V14A|ZDHHC4_uc003sql.2_Missense_Mutation_p.V14A|ZDHHC4_uc003sqh.2_Missense_Mutation_p.V14A|ZDHHC4_uc003sqj.2_Missense_Mutation_p.V14A|ZDHHC4_uc003sqk.2_Missense_Mutation_p.V14A|ZDHHC4_uc003sqm.2_Missense_Mutation_p.V14A	NM_001134388	NP_001127860	Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	14	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|pancreas(1)	2		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		CTGGCTTCGGTGCTGATGGGT	0.498												
ZNF12	7559	broad.mit.edu	37	7	6731401	6731401	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:6731401G>A	uc003sqt.1	-	5	1726	c.1172C>T	c.(1171-1173)TCG>TTG	p.S391L	ZNF12_uc011jxa.1_Missense_Mutation_p.S229L|ZNF12_uc003sqs.1_Missense_Mutation_p.S353L	NM_016265	NP_057349	P17014	ZNF12_HUMAN	zinc finger protein 12 isoform a	391	C2H2-type 5.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TGACTTCTGCGAGAAGGTTTT	0.438												
TMEM195	392636	broad.mit.edu	37	7	15458233	15458233	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:15458233C>T	uc003stb.1	-	5	729	c.559G>A	c.(559-561)GCT>ACT	p.A187T		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	187					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0						AGATGAACAGCATATACTGAA	0.313												
MPP6	51678	broad.mit.edu	37	7	24681374	24681374	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:24681374A>G	uc003swx.2	+	4	456	c.157A>G	c.(157-159)AGT>GGT	p.S53G	MPP6_uc003swy.2_Missense_Mutation_p.S53G	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6	53	L27 2.				protein complex assembly		protein binding				0						AGAAGCTGTCAGTGACAATAA	0.343												
CCDC129	223075	broad.mit.edu	37	7	31592688	31592688	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:31592688A>G	uc003tcj.1	+	2	1043	c.50A>G	c.(49-51)GAA>GGA	p.E17G	CCDC129_uc011kad.1_Missense_Mutation_p.E27G|CCDC129_uc003tci.1_Missense_Mutation_p.E16G|CCDC129_uc011kae.1_Missense_Mutation_p.E43G|CCDC129_uc003tck.1_5'Flank	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	17											0						GAAGGCCAGGAAAAGAGCAAG	0.498												
PDE1C	5137	broad.mit.edu	37	7	32109997	32109997	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:32109997C>T	uc003tcm.1	-	1	478	c.9G>A	c.(7-9)TCG>TCA	p.S3S	PDE1C_uc003tcn.1_Silent_p.S3S|PDE1C_uc003tco.1_Intron|PDE1C_uc003tcr.2_Silent_p.S3S|PDE1C_uc003tcs.2_Silent_p.S3S	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	3					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			CCTTGGTTGGCGACTCCATAG	0.562												
AVL9	23080	broad.mit.edu	37	7	33078502	33078502	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:33078502C>T	uc011kai.1	+	12	1524	c.1378C>T	c.(1378-1380)CGT>TGT	p.R460C	NT5C3_uc003tdi.2_Intron|NT5C3_uc003tdj.2_Intron|NT5C3_uc003tdk.2_Intron|uc003tdl.1_5'Flank	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	Error:Variant_position_missing_in_Q8NBF6_after_alignment						integral to membrane					0						GTGTAGAAGACGTGTTCAAAA	0.358												
BBS9	27241	broad.mit.edu	37	7	33427709	33427709	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:33427709G>A	uc003tdn.1	+	19	2581	c.2068G>A	c.(2068-2070)GCC>ACC	p.A690T	BBS9_uc003tdo.1_Missense_Mutation_p.A655T|BBS9_uc003tdp.1_Missense_Mutation_p.A685T|BBS9_uc003tdq.1_Missense_Mutation_p.A650T|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.A214T|BBS9_uc003tds.1_Missense_Mutation_p.A113T|BBS9_uc003tdt.2_RNA	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	690					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)			TAAAACTCCTGCCCCTCTTCA	0.393									Bardet-Biedl_syndrome			
ELMO1	9844	broad.mit.edu	37	7	37052934	37052934	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:37052934T>C	uc003tfk.1	-	16	1714	c.1407A>G	c.(1405-1407)GAA>GAG	p.E469E	ELMO1_uc011kbc.1_Silent_p.E373E|ELMO1_uc010kxg.1_Silent_p.E469E	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	469	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						TTGCCCTCATTTCCTTCCATG	0.517												
CDK13	8621	broad.mit.edu	37	7	40132832	40132832	+	Silent	SNP	G	G	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:40132832G>C	uc003thh.3	+	13	3966	c.3684G>C	c.(3682-3684)GTG>GTC	p.V1228V	CDK13_uc003thi.3_Silent_p.V1168V|CDK13_uc003thj.2_Silent_p.V279V|CDK13_uc003thk.2_Silent_p.V161V	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1228					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5						GCACTCCGGTGTCGGGTAAGT	0.453												
GLI3	2737	broad.mit.edu	37	7	42005251	42005251	+	Silent	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:42005251G>T	uc011kbh.1	-	15	3511	c.3420C>A	c.(3418-3420)GGC>GGA	p.G1140G	GLI3_uc011kbg.1_Silent_p.G1081G	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1140					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						GGAACTGCTGGCCAGCGTGGC	0.677									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
DDX56	54606	broad.mit.edu	37	7	44612618	44612618	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:44612618C>T	uc003tlg.2	-	3	897	c.254G>A	c.(253-255)GGC>GAC	p.G85D	DDX56_uc003tle.2_RNA|DDX56_uc003tlf.2_Missense_Mutation_p.G21D|DDX56_uc003tlh.2_RNA|DDX56_uc010kyg.2_Missense_Mutation_p.G85D|DDX56_uc010kyh.1_Intron	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 56	85	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			upper_aerodigestive_tract(1)	1						AAGAACAAGGCCTCTCACTGC	0.522												
OGDH	4967	broad.mit.edu	37	7	44713473	44713473	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:44713473C>T	uc003tln.2	+	6	830	c.721C>T	c.(721-723)CCT>TCT	p.P241S	OGDH_uc003tlm.2_Missense_Mutation_p.P241S|OGDH_uc011kbx.1_Missense_Mutation_p.P237S|OGDH_uc011kby.1_Intron|OGDH_uc003tlp.2_Missense_Mutation_p.P252S|OGDH_uc011kbz.1_Intron|OGDH_uc003tlo.1_Missense_Mutation_p.P74S	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	241					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)	GTTTGAGACCCCTGGGATCAT	0.562												
IKZF1	10320	broad.mit.edu	37	7	50467674	50467674	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:50467674C>T	uc003tow.3	+	9	1077	c.909C>T	c.(907-909)AAC>AAT	p.N303N	IKZF1_uc003tox.3_Silent_p.N261N|IKZF1_uc003toy.3_Silent_p.N261N|IKZF1_uc011kck.1_Silent_p.N216N|IKZF1_uc003toz.3_Silent_p.N273N|IKZF1_uc010kyx.2_Silent_p.N43N|IKZF1_uc003tpa.3_Silent_p.N45N	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	303					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding			haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AGAAGGAGAACGAAATGATGA	0.652			D		ALL							
COBL	23242	broad.mit.edu	37	7	51096609	51096609	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:51096609G>A	uc003tpr.3	-	10	2369	c.2184C>T	c.(2182-2184)ACC>ACT	p.T728T	COBL_uc003tps.2_Silent_p.T785T|COBL_uc011kcl.1_Silent_p.T728T|COBL_uc003tpp.3_Silent_p.T514T|COBL_uc003tpq.3_Silent_p.T669T|COBL_uc003tpo.3_Silent_p.T270T	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	728										skin(3)|ovary(2)	5	Glioma(55;0.08)					TAATGGCTCCGGTGGAGAGGG	0.507												
ZNF680	340252	broad.mit.edu	37	7	63981628	63981628	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:63981628A>T	uc003tta.2	-	4	1677	c.1504T>A	c.(1504-1506)TCC>ACC	p.S502T	ZNF680_uc010kzr.2_Missense_Mutation_p.S429T	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	zinc finger protein 680 isoform 1	502	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.118)|all_lung(88;0.243)				AGGTGTGAGGACCGGTTAAAA	0.348												
VKORC1L1	154807	broad.mit.edu	37	7	65419074	65419074	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:65419074C>T	uc003tul.2	+	3	420	c.318C>T	c.(316-318)AGC>AGT	p.S106S	VKORC1L1_uc011kds.1_Missense_Mutation_p.R70C|VKORC1L1_uc003tum.1_5'Flank	NM_173517	NP_775788	Q8N0U8	VKORL_HUMAN	vitamin K epoxide reductase complex, subunit	106	Helical; (Potential).					integral to membrane					0		Lung NSC(55;0.197)			Menadione(DB00170)|Warfarin(DB00682)	TGACAGCAAGCGCTGTGGCGG	0.537												
CLIP2	7461	broad.mit.edu	37	7	73778608	73778608	+	Missense_Mutation	SNP	G	G	A	rs140333329		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:73778608G>A	uc003uam.2	+	8	1670	c.1343G>A	c.(1342-1344)CGC>CAC	p.R448H	CLIP2_uc003uan.2_Missense_Mutation_p.R448H	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	448	Potential.					microtubule associated complex				skin(3)	3						CTGCAGTTCCGCGTGGAGGAG	0.607												
POM121C	100101267	broad.mit.edu	37	7	75053846	75053846	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:75053846T>C	uc003udk.3	-	11	1719	c.834A>G	c.(832-834)TCA>TCG	p.S278S		NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	POM121 membrane glycoprotein (rat)-like	520	Pore side (Potential).				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding				0						ACCACTGTAATGAAGCCTTCT	0.478												
YWHAG	7532	broad.mit.edu	37	7	75959484	75959484	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:75959484C>T	uc011kgj.1	-	2	371	c.154G>A	c.(154-156)GTT>ATT	p.V52I		NM_012479	NP_036611	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan	52					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			ovary(1)|lung(1)	2						GCCCCCACAACGTTCTTGTAG	0.517												
ZP3	7784	broad.mit.edu	37	7	76062907	76062907	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:76062907C>T	uc003ufd.3	+	4	666	c.656C>T	c.(655-657)GCC>GTC	p.A219V	ZP3_uc003ufc.3_Missense_Mutation_p.A168V|ZP3_uc003ufe.2_Missense_Mutation_p.A127V	NM_001110354	NP_001103824	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 isoform 1	219	Extracellular (Potential).|ZP.				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding				0						CACTGCGTGGCCACACCGACA	0.592												
CCDC146	57639	broad.mit.edu	37	7	76891552	76891552	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:76891552G>T	uc003uga.2	+	9	1228	c.1101G>T	c.(1099-1101)ATG>ATT	p.M367I	CCDC146_uc010ldp.2_Missense_Mutation_p.M113I	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	367										ovary(1)|central_nervous_system(1)	2		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TAAGAAAGATGGAACTGCTCT	0.403												
GNAI1	2770	broad.mit.edu	37	7	79818534	79818534	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:79818534A>G	uc003uhb.1	+	3	627	c.290A>G	c.(289-291)GAC>GGC	p.D97G	GNAI1_uc011kgt.1_Missense_Mutation_p.D45G	NM_002069	NP_002060	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein),	97					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						GACTTTGGTGACTCAGCCCGG	0.413												
PCLO	27445	broad.mit.edu	37	7	82579728	82579728	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:82579728G>A	uc003uhx.2	-	6	10465	c.10176C>T	c.(10174-10176)AGC>AGT	p.S3392S	PCLO_uc003uhv.2_Silent_p.S3392S|PCLO_uc010lec.2_Silent_p.S357S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3323					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CTGAAACAGTGCTCAGGATAC	0.438												
PCLO	27445	broad.mit.edu	37	7	82584025	82584025	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:82584025G>T	uc003uhx.2	-	5	6533	c.6244C>A	c.(6244-6246)CCA>ACA	p.P2082T	PCLO_uc003uhv.2_Missense_Mutation_p.P2082T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2013					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GCCTGGGTTGGGCTAGATCCA	0.468												
SEMA3A	10371	broad.mit.edu	37	7	83764138	83764138	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:83764138T>A	uc003uhz.2	-	2	557	c.242A>T	c.(241-243)GAC>GTC	p.D81V		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	81	Sema.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						ATTAACCAGGTCGAATGAAAA	0.358												
ABCB1	5243	broad.mit.edu	37	7	87196110	87196110	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:87196110C>T	uc003uiz.1	-	7	939	c.521G>A	c.(520-522)CGA>CAA	p.R174Q	ABCB1_uc011khc.1_Intron	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	174	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CTCTGTAAGTCGGGTGTTAAG	0.368												
ZNF804B	219578	broad.mit.edu	37	7	88964957	88964957	+	Silent	SNP	G	G	A	rs138375583	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:88964957G>A	uc011khi.1	+	4	3199	c.2661G>A	c.(2659-2661)AGG>AGA	p.R887R		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	887						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)			GAAAAGTCAGGCCCATGAAGT	0.433										HNSCC(36;0.09)		
STEAP1	26872	broad.mit.edu	37	7	89790129	89790129	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:89790129C>T	uc003ujx.2	+	3	295	c.95C>T	c.(94-96)ACG>ATG	p.T32M	STEAP1_uc010lem.2_Missense_Mutation_p.T32M	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the	32					electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0	all_hematologic(106;0.112)					CATAAGGACACGGGAGAGACC	0.388												
PEX1	5189	broad.mit.edu	37	7	92146932	92146932	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:92146932G>A	uc003uly.2	-	5	993	c.897C>T	c.(895-897)AAC>AAT	p.N299N	PEX1_uc011khr.1_Silent_p.N91N|PEX1_uc010ley.2_Silent_p.N299N|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	299					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TTGCTGACGCGTTATATATAC	0.368												
C7orf64	84060	broad.mit.edu	37	7	92163897	92163897	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:92163897T>C	uc003ulz.2	+	4	671	c.630T>C	c.(628-630)TGT>TGC	p.C210C	C7orf64_uc011khu.1_3'UTR|C7orf64_uc003uma.2_Silent_p.C210C	NM_032120	NP_115496	Q5RL73	CG064_HUMAN	hypothetical protein LOC84060	210							nucleotide binding			ovary(2)	2						CCTCAAAATGTATGTGTTCAT	0.413												
HEPACAM2	253012	broad.mit.edu	37	7	92848540	92848540	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:92848540G>A	uc003umm.2	-	2	327	c.304C>T	c.(304-306)CCA>TCA	p.P102S	HEPACAM2_uc003uml.2_Missense_Mutation_p.P90S|HEPACAM2_uc010lff.2_Missense_Mutation_p.P90S|HEPACAM2_uc011khy.1_Missense_Mutation_p.P125S	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN	HEPACAM family member 2 isoform 1	102	Extracellular (Potential).					integral to membrane		p.F102L(1)		ovary(3)|breast(1)|kidney(1)	5						GCATTGGGTGGCATCATGGTG	0.463												
CCDC132	55610	broad.mit.edu	37	7	92882054	92882054	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:92882054T>C	uc003umo.2	+	3	319	c.191T>C	c.(190-192)GTG>GCG	p.V64A	CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.V34A|CCDC132_uc003umr.2_Intron|CCDC132_uc011khz.1_Intron|CCDC132_uc003umn.2_Missense_Mutation_p.V64A	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132 isoform a	64											0	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TATTTTTCTGTGGATTCATTT	0.323												
CASD1	64921	broad.mit.edu	37	7	94184921	94184921	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:94184921G>A	uc003uni.3	+	18	2472	c.2245G>A	c.(2245-2247)GCA>ACA	p.A749T	CASD1_uc003unj.3_Missense_Mutation_p.A749T	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1 precursor	749						integral to membrane				ovary(2)	2	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGTTTGTGTGGCACATGAAAT	0.393												
SGCE	8910	broad.mit.edu	37	7	94252690	94252690	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:94252690C>T	uc003unl.2	-	4	521	c.410G>A	c.(409-411)CGC>CAC	p.R137H	SGCE_uc003unm.2_Missense_Mutation_p.R137H|SGCE_uc003unn.2_Missense_Mutation_p.R137H|SGCE_uc011kic.1_Missense_Mutation_p.R96H|SGCE_uc011kid.1_Missense_Mutation_p.R173H	NM_003919	NP_003910	O43556	SGCE_HUMAN	sarcoglycan, epsilon isoform 2	137	Extracellular (Potential).				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			ovary(1)	1	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CTCAAAGGTGCGCCTGTTGTA	0.274												
LMTK2	22853	broad.mit.edu	37	7	97823050	97823050	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:97823050G>A	uc003upd.1	+	11	3566	c.3273G>A	c.(3271-3273)ACG>ACA	p.T1091T		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	1091					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCCCTGAGACGTTCACAGCTG	0.607												
TECPR1	25851	broad.mit.edu	37	7	97872868	97872868	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:97872868G>A	uc003upg.2	-	6	773	c.568C>T	c.(568-570)CCC>TCC	p.P190S	TECPR1_uc003uph.1_Missense_Mutation_p.P111S	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	190						integral to membrane	protein binding			pancreas(1)	1						TCGTTGAAGGGGTCGGGCAGC	0.622												
AGFG2	3268	broad.mit.edu	37	7	100151089	100151089	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:100151089C>T	uc003uvf.2	+	4	687	c.551C>T	c.(550-552)CCG>CTG	p.P184L	AGFG2_uc003uvg.1_Intron|AGFG2_uc010lgy.2_Missense_Mutation_p.R46C	NM_006076	NP_006067	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	184					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)	1						GATCCTGCACCGTCTCTCTCA	0.557												
ACTL6B	51412	broad.mit.edu	37	7	100247736	100247736	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:100247736T>A	uc003uvy.2	-	5	499	c.392A>T	c.(391-393)GAG>GTG	p.E131V	ACTL6B_uc003uvx.1_5'Flank|ACTL6B_uc003uvz.2_RNA	NM_016188	NP_057272	O94805	ACL6B_HUMAN	actin-like 6B	131					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			ovary(1)	1	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TGTCAGCTTCTCCCGCTTGGC	0.463												
TRIP6	7205	broad.mit.edu	37	7	100469244	100469244	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:100469244C>A	uc003uww.2	+	7	1249	c.1079C>A	c.(1078-1080)CCT>CAT	p.P360H		NM_003302	NP_003293	Q15654	TRIP6_HUMAN	thyroid receptor-interacting protein 6	360	LIM zinc-binding 2.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			central_nervous_system(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCCTACCACCCTGGCTGCTTC	0.622												
SERPINE1	5054	broad.mit.edu	37	7	100773872	100773872	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:100773872G>A	uc003uxt.2	+	3	590	c.442G>A	c.(442-444)GAC>AAC	p.D148N	SERPINE1_uc011kkj.1_Missense_Mutation_p.D133N|SERPINE1_uc003uxu.1_5'Flank	NM_000602	NP_000593	P05121	PAI1_HUMAN	plasminogen activator inhibitor-1 isoform 1	148					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	CAAGCAAGTGGACTTTTCAGA	0.552												
ORAI2	80228	broad.mit.edu	37	7	102086989	102086989	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:102086989G>A	uc010lhz.1	+	4	490	c.255G>A	c.(253-255)ACG>ACA	p.T85T	ORAI2_uc003uzj.2_Silent_p.T85T|ORAI2_uc003uzk.2_Silent_p.T85T|ORAI2_uc011kks.1_Silent_p.T8T	NM_001126340	NP_001119812	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator	85						integral to membrane	protein binding			ovary(1)|kidney(1)	2						AGCTGGAGACGCAGTACCAGT	0.672												
PSMC2	5701	broad.mit.edu	37	7	103002424	103002424	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:103002424C>T	uc003vbs.2	+	5	381	c.311C>T	c.(310-312)GCT>GTT	p.A104V	SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011kln.1_Missense_Mutation_p.A104V|PSMC2_uc011klo.1_5'UTR	NM_002803	NP_002794	P35998	PRS7_HUMAN	proteasome 26S ATPase subunit 2	104					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	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0						ATAATCAATGCTGATTCGGAG	0.388												
RELN	5649	broad.mit.edu	37	7	103138557	103138557	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:103138557G>A	uc003vca.2	-	54	8970	c.8810C>T	c.(8809-8811)GCG>GTG	p.A2937V	RELN_uc010liz.2_Missense_Mutation_p.A2937V	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2937					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTGTGTAACCGCTTGTCTCAC	0.428												
COG5	10466	broad.mit.edu	37	7	106851578	106851578	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:106851578G>A	uc003ved.2	-	19	2816	c.2291C>T	c.(2290-2292)ACG>ATG	p.T764M	COG5_uc003vec.2_Missense_Mutation_p.T785M|COG5_uc003vee.2_Missense_Mutation_p.T785M	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	764					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						GGGTGCTCTCGTGAACAAAAA	0.468												
CFTR	1080	broad.mit.edu	37	7	117232480	117232480	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:117232480C>T	uc003vjd.2	+	14	2391	c.2259C>T	c.(2257-2259)AGC>AGT	p.S753S	CFTR_uc011knq.1_Silent_p.S159S	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	753	Cytoplasmic (Potential).				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CTCGCATCAGCGTGATCAGCA	0.512									Cystic_Fibrosis			
CTTNBP2	83992	broad.mit.edu	37	7	117407207	117407207	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:117407207C>T	uc003vjf.2	-	9	2894	c.2802G>A	c.(2800-2802)AGG>AGA	p.R934R		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	934	ANK 6.									ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GCCCTCCGTGCCTACACAAGA	0.443												
C7orf58	79974	broad.mit.edu	37	7	120629693	120629693	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:120629693G>A	uc003vjq.3	+	2	465	c.18G>A	c.(16-18)GTG>GTA	p.V6V	C7orf58_uc003vjr.1_Silent_p.V6V|C7orf58_uc003vjs.3_Silent_p.V6V	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	6						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					GTCGCCCAGTGTTCCCTTGTC	0.527												
ASB15	142685	broad.mit.edu	37	7	123267253	123267253	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:123267253C>T	uc003vku.1	+	9	1079	c.787C>T	c.(787-789)CTG>TTG	p.L263L	ASB15_uc003vkv.1_Silent_p.L263L|ASB15_uc003vkw.1_Silent_p.L263L	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box-containing 15	263	ANK 5.				intracellular signal transduction					skin(2)|lung(1)	3						TTCCCTCCTGCTGGAATATGG	0.517												
FLNC	2318	broad.mit.edu	37	7	128484899	128484899	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:128484899G>A	uc003vnz.3	+	21	3589	c.3380G>A	c.(3379-3381)GGC>GAC	p.G1127D	FLNC_uc003voa.3_Missense_Mutation_p.G1127D	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1127	Filamin 9.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						ACGGAGCCTGGCGAGTACACC	0.627												
AHCYL2	23382	broad.mit.edu	37	7	129019487	129019487	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:129019487G>C	uc011kov.1	+	2	426	c.372G>C	c.(370-372)CAG>CAC	p.Q124H	AHCYL2_uc003vot.2_Missense_Mutation_p.Q123H|AHCYL2_uc003vov.2_Missense_Mutation_p.Q21H|AHCYL2_uc011kow.1_Missense_Mutation_p.Q22H|AHCYL2_uc011kox.1_Missense_Mutation_p.Q21H	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	S-adenosylhomocysteine hydrolase-like 2 isoform	124					one-carbon metabolic process		adenosylhomocysteinase activity			ovary(2)	2						AGCAGATCCAGTTTGCTGACC	0.408												
FAM40B	57464	broad.mit.edu	37	7	129096401	129096401	+	Missense_Mutation	SNP	C	C	T	rs150058386		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:129096401C>T	uc011koy.1	+	9	996	c.956C>T	c.(955-957)CCG>CTG	p.P319L	FAM40B_uc003vow.2_Missense_Mutation_p.P319L|FAM40B_uc011koz.1_5'Flank	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a	319											0						GCTGCCTCCCCGCCCTCTTAC	0.602												
TSGA13	114960	broad.mit.edu	37	7	130364019	130364019	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:130364019A>G	uc003vqi.2	-	5	818	c.361T>C	c.(361-363)TCC>CCC	p.S121P	TSGA13_uc003vqj.2_Missense_Mutation_p.S121P	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	testis specific, 13	121										ovary(2)	2	Melanoma(18;0.0435)					AACTCCTTGGAAAAATATTTT	0.443												
PLXNA4	91584	broad.mit.edu	37	7	131866287	131866287	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:131866287G>A	uc003vra.3	-	18	3574	c.3345C>T	c.(3343-3345)CCC>CCT	p.P1115P		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1115	Extracellular (Potential).|IPT/TIG 3.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						CAAACTCCTCGGGCCTCTCGG	0.577												
LRGUK	136332	broad.mit.edu	37	7	133906546	133906546	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:133906546A>G	uc003vrm.1	+	16	1875	c.1859A>G	c.(1858-1860)CAC>CGC	p.H620R		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain	620							ATP binding|kinase activity			lung(2)|skin(2)|kidney(1)	5						AAGACATCCCACCTGAAACCT	0.313												
AKR1B1	231	broad.mit.edu	37	7	134135578	134135578	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:134135578T>C	uc003vrp.1	-	3	385	c.311A>G	c.(310-312)TAC>TGC	p.Y104C	AKR1B1_uc003vrq.1_RNA	NM_001628	NP_001619	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1	104					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)	GAGGTCCAGGTAGTCCAGCTT	0.572												
DGKI	9162	broad.mit.edu	37	7	137172408	137172408	+	Missense_Mutation	SNP	C	C	T	rs148779791		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:137172408C>T	uc003vtt.2	-	23	2331	c.2330G>A	c.(2329-2331)CGT>CAT	p.R777H	DGKI_uc003vtu.2_Missense_Mutation_p.R477H	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	777					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						ACAGTCTCCACGCACAACTAG	0.368												
ATP6V0A4	50617	broad.mit.edu	37	7	138418958	138418958	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:138418958C>T	uc003vuf.2	-	15	1852	c.1614G>A	c.(1612-1614)TCG>TCA	p.S538S	ATP6V0A4_uc003vug.2_Silent_p.S538S|ATP6V0A4_uc003vuh.2_Silent_p.S538S	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	538	Cytoplasmic (Potential).				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1						TCATTTTATACGAGTTCAGAA	0.413												
TTC26	79989	broad.mit.edu	37	7	138865925	138865925	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:138865925T>A	uc003vus.2	+	16	1514	c.1400T>A	c.(1399-1401)ATT>AAT	p.I467N	TTC26_uc011kqn.1_Missense_Mutation_p.I467N|TTC26_uc011kqo.1_Missense_Mutation_p.I436N|TTC26_uc011kqp.1_Missense_Mutation_p.I362N|TTC26_uc003vut.2_Missense_Mutation_p.I327N|TTC26_uc011kqq.1_Missense_Mutation_p.I336N	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26 isoform 1	467							binding			ovary(1)	1						TTACAGCTCATTGCTAATGAC	0.393												
BRAF	673	broad.mit.edu	37	7	140453128	140453128	+	Nonsense_Mutation	SNP	G	G	A	rs104886015		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:140453128G>A	uc003vwc.3	-	15	1868	c.1807C>T	c.(1807-1809)CGA>TGA	p.R603*		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	603	Protein kinase.				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	p.R603*(4)|p.T599_R603>I(2)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.V600_W604del(1)	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	CCACTCCATCGAGATTTCACT	0.383		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			
OR9A2	135924	broad.mit.edu	37	7	142723873	142723873	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:142723873A>G	uc003wcc.1	-	1	347	c.347T>C	c.(346-348)GTG>GCG	p.V116A		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A,	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	Melanoma(164;0.059)					ATAACGGTCCACAGCCATCAC	0.448												
TPK1	27010	broad.mit.edu	37	7	144320278	144320278	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:144320278A>G	uc003weq.2	-	6	438	c.335T>C	c.(334-336)ATA>ACA	p.I112T	TPK1_uc003weo.2_Missense_Mutation_p.I107T|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.I112T|TPK1_uc003wes.2_RNA	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1 isoform a	112					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			ovary(2)	2					Thiamine(DB00152)	TTTTTCTTCTATCTTCTTTTG	0.323												
ZNF398	57541	broad.mit.edu	37	7	148876693	148876693	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:148876693C>T	uc003wfl.2	+	6	2004	c.1729C>T	c.(1729-1731)CGC>TGC	p.R577C	ZNF398_uc011kul.1_Missense_Mutation_p.R406C|ZNF398_uc011kum.1_Missense_Mutation_p.R582C	NM_170686	NP_733787	Q8TD17	ZN398_HUMAN	zinc finger 398 isoform a	577	C2H2-type 9.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CAGGAGCTTCCGCTACAAACA	0.602												
ZNF777	27153	broad.mit.edu	37	7	149129387	149129387	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:149129387G>A	uc003wfv.2	-	6	2139	c.1976C>T	c.(1975-1977)ACG>ATG	p.T659M		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCGCTCACCCGTGTGCGTGAT	0.632												
ZNF777	27153	broad.mit.edu	37	7	149133705	149133705	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:149133705C>T	uc003wfv.2	-	5	1463	c.1300G>A	c.(1300-1302)GAA>AAA	p.E434K		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	434	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGCTTCAGTTCGCTGAACTCG	0.652												
SSPO	23145	broad.mit.edu	37	7	149485990	149485990	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:149485990C>T	uc010lpk.2	+	29	4209	c.4209C>T	c.(4207-4209)GGC>GGT	p.G1403G		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	1403	LDL-receptor class A 1.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACGACTGTGGCGATGGCTCTG	0.582												
SSPO	23145	broad.mit.edu	37	7	149508064	149508064	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:149508064C>T	uc010lpk.2	+	67	9458	c.9458C>T	c.(9457-9459)CCG>CTG	p.P3153L		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3153					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTCTACCCCCCGGGCAGCACT	0.602												
ZNF862	643641	broad.mit.edu	37	7	149547397	149547397	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:149547397C>T	uc010lpn.2	+	5	1279	c.1087C>T	c.(1087-1089)CGG>TGG	p.R363W	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	363	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						AGACGTGATGCGGATGAACTA	0.577												
CHPF2	54480	broad.mit.edu	37	7	150935265	150935265	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:150935265G>A	uc003wjr.1	+	4	3330	c.1817G>A	c.(1816-1818)CGC>CAC	p.R606H	CHPF2_uc003wjq.1_Missense_Mutation_p.R598H|MIR671_hsa-mir-671|MI0003760_5'Flank	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	606	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(1)	1						GTCCTCAACCGCTGTCGCATG	0.587												
HTR5A	3361	broad.mit.edu	37	7	154862889	154862889	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:154862889A>G	uc003wlu.1	+	1	344	c.280A>G	c.(280-282)ATG>GTG	p.M94V	uc011kvt.1_Missense_Mutation_p.M42T|uc003wlt.2_Missense_Mutation_p.M42T	NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	94	Helical; Name=2; (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CGCGCTGGTCATGCCGCTGAG	0.682												
PTPRN2	5799	broad.mit.edu	37	7	157959878	157959878	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:157959878G>A	uc003wno.2	-	6	776	c.655C>T	c.(655-657)CGG>TGG	p.R219W	PTPRN2_uc003wnp.2_Missense_Mutation_p.R202W|PTPRN2_uc003wnq.2_Missense_Mutation_p.R219W|PTPRN2_uc003wnr.2_Missense_Mutation_p.R181W|PTPRN2_uc011kwa.1_Missense_Mutation_p.R242W	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	219	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)		CCGAGGGTCCGCGGCAGGAGG	0.657												
WDR60	55112	broad.mit.edu	37	7	158734693	158734693	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:158734693G>A	uc003woe.3	+	24	3014	c.2856G>A	c.(2854-2856)ACG>ACA	p.T952T	WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Silent_p.T584T	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	952	WD 4.									ovary(2)|breast(1)|central_nervous_system(1)	4	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)		ACAGCAGCACGGACAGCCATG	0.622												
CSMD1	64478	broad.mit.edu	37	8	3008925	3008925	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:3008925C>T	uc011kwk.1	-	40	6418	c.6028G>A	c.(6028-6030)GGC>AGC	p.G2010S	CSMD1_uc011kwj.1_Missense_Mutation_p.G1402S|CSMD1_uc003wqe.2_Missense_Mutation_p.G1166S|CSMD1_uc010lrg.2_Missense_Mutation_p.G78S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2010	Extracellular (Potential).|CUB 12.					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)		TTACCATAGCCGATGGGTAAT	0.443												
MCPH1	79648	broad.mit.edu	37	8	6302423	6302423	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:6302423C>T	uc003wqi.2	+	8	1248	c.1180C>T	c.(1180-1182)CTG>TTG	p.L394L	MCPH1_uc003wqh.2_Silent_p.L394L|MCPH1_uc011kwl.1_Silent_p.L346L	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	394						microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GGAAGACAGGCTGCAGCACGT	0.512												
SOX7	83595	broad.mit.edu	37	8	10692279	10692279	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:10692279C>T	uc011kwz.1	-	2	59	c.26G>A	c.(25-27)CGG>CAG	p.R9Q	PINX1_uc003wth.2_Missense_Mutation_p.R9Q|PINX1_uc003wti.2_Missense_Mutation_p.R9Q	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	Error:Variant_position_missing_in_Q9BT81_after_alignment					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)	1				COAD - Colon adenocarcinoma(149;0.0732)		CTTCTGCTTCCGCCGACCTGT	0.448												
DLC1	10395	broad.mit.edu	37	8	12957788	12957788	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:12957788C>T	uc003wwm.2	-	9	2502	c.2058G>A	c.(2056-2058)GCG>GCA	p.A686A	DLC1_uc003wwk.1_Silent_p.A249A|DLC1_uc003wwl.1_Silent_p.A283A|DLC1_uc011kxx.1_Silent_p.A175A	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	686					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						GCTTTGAGGGCGCTTTGTGCT	0.557												
MTUS1	57509	broad.mit.edu	37	8	17611860	17611860	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:17611860G>C	uc003wxv.2	-	2	1931	c.1457C>G	c.(1456-1458)ACG>AGG	p.T486R	MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.T486R|MTUS1_uc010lsz.2_Missense_Mutation_p.T486R	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	486						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		TGGGGTATTCGTTTTGATTGT	0.393												
XPO7	23039	broad.mit.edu	37	8	21848376	21848376	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:21848376C>T	uc003xaa.3	+	18	2089	c.1987C>T	c.(1987-1989)CGG>TGG	p.R663W	XPO7_uc010lti.2_Missense_Mutation_p.R672W|XPO7_uc010ltk.2_Missense_Mutation_p.R664W	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	663					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GACAGACATGCGGTGTCGGAC	0.418												
XPO7	23039	broad.mit.edu	37	8	21857142	21857142	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:21857142C>T	uc003xaa.3	+	24	2841	c.2739C>T	c.(2737-2739)ATC>ATT	p.I913I	XPO7_uc010lti.2_Silent_p.I922I|XPO7_uc010ltk.2_Silent_p.I914I	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	913					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CTCACGTCATCATGTATATTC	0.448												
REEP4	80346	broad.mit.edu	37	8	21996976	21996976	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:21996976G>A	uc003xau.1	-	5	823	c.370C>T	c.(370-372)CGG>TGG	p.R124W	REEP4_uc010ltt.1_Missense_Mutation_p.R124W|REEP4_uc011kyz.1_Missense_Mutation_p.R124W	NM_025232	NP_079508	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	124						integral to membrane				skin(1)	1				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		TTGAGGCCCCGCTTCCCGAAG	0.662												
PIWIL2	55124	broad.mit.edu	37	8	22147407	22147407	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:22147407A>G	uc003xbn.2	+	9	1182	c.1034A>G	c.(1033-1035)GAC>GGC	p.D345G	PIWIL2_uc011kzf.1_Missense_Mutation_p.D345G|PIWIL2_uc010ltv.2_Missense_Mutation_p.D345G	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	piwi-like 2	345					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			skin(1)	1				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AACTTTTATGACCCTACAAGT	0.343												
PIWIL2	55124	broad.mit.edu	37	8	22210726	22210726	+	Splice_Site	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:22210726G>A	uc003xbn.2	+	21	2805	c.2657_splice	c.e21+1	p.W886_splice	PIWIL2_uc011kzf.1_Splice_Site_p.W886_splice|PIWIL2_uc010ltv.2_Splice_Site_p.W886_splice|PIWIL2_uc003xbo.2_Splice_Site_p.W40_splice	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	piwi-like 2						DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			skin(1)	1				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GCTGTGAGTGGTAAGTGAGCA	0.413												
KIAA1967	57805	broad.mit.edu	37	8	22463333	22463333	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:22463333G>A	uc003xch.2	+	2	184	c.47G>A	c.(46-48)CGC>CAC	p.R16H	KIAA1967_uc003xci.2_Missense_Mutation_p.R16H|KIAA1967_uc003xcj.1_5'Flank	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	16					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)		CCAGGGGGACGCAACTTCTCA	0.527												
RHOBTB2	23221	broad.mit.edu	37	8	22864897	22864897	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:22864897C>T	uc003xcq.2	+	5	1676	c.1139C>T	c.(1138-1140)CCG>CTG	p.P380L	RHOBTB2_uc003xcp.2_Missense_Mutation_p.P402L|RHOBTB2_uc011kzp.1_Missense_Mutation_p.P387L|uc003xcr.2_RNA	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	380	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GGGTACCTACCGGGCAGGGGT	0.617												
NEFL	4747	broad.mit.edu	37	8	24813156	24813156	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:24813156C>T	uc003xee.2	-	1	976	c.874G>A	c.(874-876)GCC>ACC	p.A292T		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	292	Rod.|Coil 2B.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|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)		GTGTTCTTGGCGGCGCTCTCG	0.632												
DPYSL2	1808	broad.mit.edu	37	8	26501484	26501484	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:26501484G>A	uc003xfb.1	+	10	1337	c.987G>A	c.(985-987)ACG>ACA	p.T329T	DPYSL2_uc003xfa.2_Silent_p.T434T|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Silent_p.T293T	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	329					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			large_intestine(1)	1		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TCCAGGTCACGGGCAGTGCCC	0.542												
DPYSL2	1808	broad.mit.edu	37	8	26501587	26501587	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:26501587G>A	uc003xfb.1	+	10	1440	c.1090G>A	c.(1090-1092)GTC>ATC	p.V364I	DPYSL2_uc003xfa.2_Missense_Mutation_p.V469I|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Missense_Mutation_p.V328I	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	364					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			large_intestine(1)	1		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GCGGATGTCCGTCATCTGGGA	0.582												
PTK2B	2185	broad.mit.edu	37	8	27303434	27303434	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:27303434C>T	uc003xfn.1	+	29	3146	c.2338C>T	c.(2338-2340)CGG>TGG	p.R780W	PTK2B_uc003xfo.1_Missense_Mutation_p.R780W|PTK2B_uc003xfp.1_Missense_Mutation_p.R780W|PTK2B_uc003xfq.1_Intron	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	780				R -> G (in Ref. 2; AAB47217).	apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CCACAGCATGCGGGTAAGAGG	0.617												
KIF13B	23303	broad.mit.edu	37	8	29005050	29005050	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:29005050C>T	uc003xhh.3	-	17	1942	c.1883G>A	c.(1882-1884)CGC>CAC	p.R628H	KIF13B_uc003xhj.2_Missense_Mutation_p.R525H	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	628	Potential.				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AAGCCTCTGGCGCTCCAGTGC	0.453												
ADAM32	203102	broad.mit.edu	37	8	39068795	39068795	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:39068795C>T	uc003xmt.3	+	12	1430	c.1185C>T	c.(1183-1185)GGC>GGT	p.G395G	ADAM32_uc011lch.1_Intron|ADAM32_uc003xmu.3_Intron	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	a disintegrin and metalloprotease domain 32	395	Disintegrin.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)	3		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CAGTCTGTGGCAATGGCAGAT	0.338												
ADAM18	8749	broad.mit.edu	37	8	39495209	39495209	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:39495209G>T	uc003xni.2	+	9	814	c.814G>T	c.(814-816)GCA>TCA	p.A272S	ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.A248S	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	a disintegrin and metalloprotease domain 18	272	Peptidase M12B.|Extracellular (Potential).				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CCATGACATAGCATACTTACT	0.338												
ANK1	286	broad.mit.edu	37	8	41550195	41550195	+	Missense_Mutation	SNP	C	C	T	rs148942046	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:41550195C>T	uc003xok.2	-	31	3913	c.3829G>A	c.(3829-3831)GTG>ATG	p.V1277M	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.V593M|ANK1_uc003xoi.2_Missense_Mutation_p.V1277M|ANK1_uc003xoj.2_Missense_Mutation_p.V1277M|ANK1_uc003xol.2_Missense_Mutation_p.V1277M|ANK1_uc003xom.2_Missense_Mutation_p.V1318M	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1277					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCCACCTCCACGAAGTTCTCA	0.577												
AP3M2	10947	broad.mit.edu	37	8	42023047	42023047	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:42023047C>T	uc003xop.2	+	7	1063	c.772C>T	c.(772-774)CGC>TGC	p.R258C	AP3M2_uc003xoo.2_Missense_Mutation_p.R258C|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_Missense_Mutation_p.R143C|AP3M2_uc003xor.1_Missense_Mutation_p.R258C	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	258	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus					0	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			TGGAAACTTCCGCCTGCTGTC	0.453												
PRKDC	5591	broad.mit.edu	37	8	48690324	48690324	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:48690324G>A	uc003xqi.2	-	85	12022	c.11965C>T	c.(11965-11967)CGG>TGG	p.R3989W	PRKDC_uc003xqj.2_Missense_Mutation_p.R3958W|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3989	PI3K/PI4K.				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)				CGGAAGGCCCGGAGTGCGTGT	0.493								NHEJ				
EFCAB1	79645	broad.mit.edu	37	8	49647682	49647682	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:49647682G>A	uc003xqo.2	-	1	189	c.29C>T	c.(28-30)ACG>ATG	p.T10M	EFCAB1_uc003xqn.3_RNA|EFCAB1_uc011ldj.1_Missense_Mutation_p.T10M|EFCAB1_uc010lxx.2_RNA|EFCAB1_uc011ldk.1_RNA	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1 isoform a	10							calcium ion binding				0		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TAAGGTGTCCGTCAGCTTCTG	0.612												
PXDNL	137902	broad.mit.edu	37	8	52321554	52321554	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:52321554G>A	uc003xqu.3	-	17	2731	c.2630C>T	c.(2629-2631)ACG>ATG	p.T877M	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	877					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)				TGAATCCACCGTCGCAGAGGG	0.662												
PXDNL	137902	broad.mit.edu	37	8	52321594	52321594	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:52321594G>A	uc003xqu.3	-	17	2691	c.2590C>T	c.(2590-2592)CGC>TGC	p.R864C	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	864					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)				GGGCTGGAGCGCGCGAAGAGC	0.662												
NPBWR1	2831	broad.mit.edu	37	8	53853442	53853442	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:53853442C>T	uc011ldu.1	+	1	975	c.975C>T	c.(973-975)CGC>CGT	p.R325R		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	325	Cytoplasmic (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)				TAACTTGCCGCGCGGCAGCCT	0.692												
RP1	6101	broad.mit.edu	37	8	55533986	55533986	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:55533986C>T	uc003xsd.1	+	2	608	c.460C>T	c.(460-462)CGG>TGG	p.R154W	RP1_uc011ldy.1_Missense_Mutation_p.R154W	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	154	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCGCCCCCCACGGAGCCTAGT	0.692												
CHD7	55636	broad.mit.edu	37	8	61765392	61765392	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:61765392G>A	uc003xue.2	+	31	6585	c.6108G>A	c.(6106-6108)CCG>CCA	p.P2036P		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2036					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)			TTACAGAACCGCCCGACCTCT	0.473												
CYP7B1	9420	broad.mit.edu	37	8	65528376	65528376	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:65528376A>G	uc003xvj.2	-	3	926	c.722T>C	c.(721-723)ATT>ACT	p.I241T		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	241					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TTTCTCTCTAATAGACTTGAC	0.328												
ADHFE1	137872	broad.mit.edu	37	8	67369347	67369347	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:67369347A>G	uc003xwb.3	+	12	1142	c.1108A>G	c.(1108-1110)ACT>GCT	p.T370A	ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Missense_Mutation_p.T322A|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_RNA|ADHFE1_uc011les.1_Missense_Mutation_p.T300A	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	370					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			ovary(1)|lung(1)|breast(1)|skin(1)	4		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			AGCGGTGTTCACTTTCACGGC	0.483												
C8orf45	157777	broad.mit.edu	37	8	67789611	67789611	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:67789611T>G	uc003xwz.3	+	5	484	c.313T>G	c.(313-315)TTA>GTA	p.L105V	C8orf45_uc003xwv.2_Missense_Mutation_p.L105V|C8orf45_uc011lev.1_Missense_Mutation_p.L105V|C8orf45_uc011lew.1_Missense_Mutation_p.L36V|C8orf45_uc011lex.1_Intron|C8orf45_uc003xwy.3_Missense_Mutation_p.L105V	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	minichromosome maintenance complex	105					DNA replication		ATP binding|DNA binding			ovary(1)	1	Breast(64;0.186)		Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATTAACACATTTACCTCCCCT	0.299												
NCOA2	10499	broad.mit.edu	37	8	71068296	71068296	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:71068296T>C	uc003xyn.1	-	11	2466	c.2304A>G	c.(2302-2304)AGA>AGG	p.R768R		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	768					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TACTGTCCAGTCTCTCAAGTT	0.398			T	RUNXBP2	AML							
NCOA2	10499	broad.mit.edu	37	8	71068364	71068364	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:71068364G>A	uc003xyn.1	-	11	2398	c.2236C>T	c.(2236-2238)CGC>TGC	p.R746C		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	746	LXXLL motif 3.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AGCAAATAGCGAAGTAGTGCA	0.448			T	RUNXBP2	AML							
TRPA1	8989	broad.mit.edu	37	8	72946564	72946564	+	Silent	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:72946564T>C	uc003xza.2	-	22	2779	c.2604A>G	c.(2602-2604)AAA>AAG	p.K868K	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	868	Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	TCAACAAAGTTTTCAAAATTA	0.294												
JPH1	56704	broad.mit.edu	37	8	75171672	75171672	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:75171672G>A	uc003yae.2	-	3	1246	c.1206C>T	c.(1204-1206)TGC>TGT	p.C402C	JPH1_uc003yaf.2_Silent_p.C402C|JPH1_uc003yag.1_Silent_p.C266C	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	402	Ala-rich.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TCGCGATGTCGCACTCCTGGC	0.617												
ZFHX4	79776	broad.mit.edu	37	8	77768354	77768354	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:77768354G>A	uc003yav.2	+	10	9449	c.9062G>A	c.(9061-9063)CGT>CAT	p.R3021H	ZFHX4_uc003yau.1_Missense_Mutation_p.R3066H|ZFHX4_uc003yaw.1_Missense_Mutation_p.R3021H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3021						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAACTTGATCGTATAAAGAAA	0.552										HNSCC(33;0.089)		
PSKH2	85481	broad.mit.edu	37	8	87060712	87060712	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:87060712C>T	uc011lfy.1	-	3	1137	c.1137G>A	c.(1135-1137)TCG>TCA	p.S379S		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	379							ATP binding|protein serine/threonine kinase activity			stomach(2)|lung(2)|ovary(1)	5			STAD - Stomach adenocarcinoma(118;0.129)			CAGACAGTGGCGATTCTACTA	0.428												
RUNX1T1	862	broad.mit.edu	37	8	93026963	93026963	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:93026963A>G	uc003yfd.2	-	3	396	c.312T>C	c.(310-312)TCT>TCC	p.S104S	RUNX1T1_uc003yfc.1_Silent_p.S77S|RUNX1T1_uc003yfe.1_Silent_p.S67S|RUNX1T1_uc010mao.2_Silent_p.S77S|RUNX1T1_uc011lgi.1_Silent_p.S115S|RUNX1T1_uc003yfh.1_Silent_p.S67S|RUNX1T1_uc003yfb.1_Silent_p.S67S|RUNX1T1_uc003yff.1_Silent_p.S67S|RUNX1T1_uc003yfg.1_Silent_p.S67S	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	104	Poly-Ser.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AGGAGGAGGAAGAAGAGGAAG	0.547												
GEM	2669	broad.mit.edu	37	8	95272569	95272569	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:95272569G>A	uc003ygj.2	-	2	412	c.163C>T	c.(163-165)CGC>TGC	p.R55C	GEM_uc003ygi.2_Missense_Mutation_p.R55C	NM_005261	NP_005252	P55040	GEM_HUMAN	GTP-binding mitogen-induced T-cell protein	55					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			lung(1)	1	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			CAGCTTCGGCGGCAGTGGTCC	0.602												
CCNE2	9134	broad.mit.edu	37	8	95900288	95900288	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:95900288T>C	uc003yhc.2	-	7	576	c.467A>G	c.(466-468)TAC>TGC	p.Y156C	CCNE2_uc003yhd.2_Missense_Mutation_p.Y156C	NM_057749	NP_477097	O96020	CCNE2_HUMAN	cyclin E2	156					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding				0	Breast(36;8.75e-07)					ATGAAGTGTGTATACTTCACA	0.279												
VPS13B	157680	broad.mit.edu	37	8	100568810	100568810	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:100568810C>T	uc003yiv.2	+	31	5064	c.4953C>T	c.(4951-4953)GTC>GTT	p.V1651V	VPS13B_uc003yiw.2_Silent_p.V1626V	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1651					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)			AGGAAAGTGTCTCAGGAGGGG	0.433												
RNF19A	25897	broad.mit.edu	37	8	101300355	101300355	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:101300355C>T	uc003yjj.1	-	3	365	c.48G>A	c.(46-48)CTG>CTA	p.L16L	RNF19A_uc003yjk.1_Silent_p.L16L|RNF19A_uc003yjl.1_Silent_p.L16L	NM_015435	NP_056250	Q9NV58	RN19A_HUMAN	ring finger protein 19	16					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TGTTTACACACAGCCCTTCAT	0.368												
UBR5	51366	broad.mit.edu	37	8	103358524	103358524	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:103358524G>A	uc003ykr.1	-	7	709	c.676C>T	c.(676-678)CGG>TGG	p.R226W	UBR5_uc003yks.1_Missense_Mutation_p.R226W	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	226					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	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	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)			TCATCATCCCGGCTAAGTAAA	0.423												
OXR1	55074	broad.mit.edu	37	8	107718844	107718844	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:107718844G>A	uc011lht.1	+	8	1197	c.1098G>A	c.(1096-1098)GCG>GCA	p.A366A	OXR1_uc003ymf.2_Silent_p.A365A|OXR1_uc011lhu.1_Silent_p.A358A|OXR1_uc010mcg.2_Intron|OXR1_uc010mch.2_Silent_p.A63A|OXR1_uc003ymg.1_Silent_p.A298A|OXR1_uc003ymi.1_Silent_p.A277A	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	366					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CTTCTGGTGCGTCATCAGAAT	0.418												
PKHD1L1	93035	broad.mit.edu	37	8	110510979	110510979	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:110510979A>G	uc003yne.2	+	67	10911	c.10807A>G	c.(10807-10809)AGT>GGT	p.S3603G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3603	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAATGCCATCAGTGGCCTTTT	0.403										HNSCC(38;0.096)		
CSMD3	114788	broad.mit.edu	37	8	113841970	113841970	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:113841970T>C	uc003ynu.2	-	12	1963	c.1804A>G	c.(1804-1806)ACC>GCC	p.T602A	CSMD3_uc003ynt.2_Missense_Mutation_p.T562A|CSMD3_uc011lhx.1_Missense_Mutation_p.T498A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	602	Extracellular (Potential).|CUB 3.					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						ATTGTCAAGGTATCATAGCCA	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
TRPS1	7227	broad.mit.edu	37	8	116427198	116427198	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:116427198G>A	uc003ynz.2	-	6	3358	c.2899C>T	c.(2899-2901)CAG>TAG	p.Q967*	TRPS1_uc011lhy.1_Nonsense_Mutation_p.Q971*|TRPS1_uc003yny.2_Nonsense_Mutation_p.Q980*|TRPS1_uc010mcy.2_Nonsense_Mutation_p.Q967*	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	967					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)			CTGCCCCTCTGCTGTTTGTTG	0.473									Langer-Giedion_syndrome			
TRPS1	7227	broad.mit.edu	37	8	116599384	116599384	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:116599384G>A	uc003ynz.2	-	4	2964	c.2505C>T	c.(2503-2505)GCC>GCT	p.A835A	TRPS1_uc011lhy.1_Silent_p.A839A|TRPS1_uc003yny.2_Silent_p.A848A|TRPS1_uc010mcy.2_Silent_p.A835A	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	835					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)			CCAGATGGGCGGCCTCCACAT	0.617									Langer-Giedion_syndrome			
EIF3H	8667	broad.mit.edu	37	8	117658816	117658816	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:117658816A>G	uc003yoa.2	-	7	881	c.855T>C	c.(853-855)AAT>AAC	p.N285N	EIF3H_uc003yob.2_Silent_p.N299N	NM_003756	NP_003747	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3,	285					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(3)	3	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					GGCGCTGCATATTCTCCTGCT	0.522												
SLC30A8	169026	broad.mit.edu	37	8	118170036	118170036	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:118170036G>A	uc003yoh.2	+	4	755	c.525G>A	c.(523-525)GCG>GCA	p.A175A	SLC30A8_uc010mcz.2_Silent_p.A126A|SLC30A8_uc011lia.1_Silent_p.A126A|SLC30A8_uc003yog.2_Silent_p.A126A	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 member 8	175	Extracellular (Potential).				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			ovary(2)|skin(2)	4	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			AGATCCAGGCGACTGTGATGA	0.557												
SLC30A8	169026	broad.mit.edu	37	8	118184853	118184853	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:118184853C>T	uc003yoh.2	+	8	1273	c.1043C>T	c.(1042-1044)ACC>ATC	p.T348I	SLC30A8_uc010mcz.2_Missense_Mutation_p.T299I|SLC30A8_uc011lia.1_Missense_Mutation_p.T299I|SLC30A8_uc003yog.2_Missense_Mutation_p.T299I	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 member 8	348	Cytoplasmic (Potential).				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			ovary(2)|skin(2)	4	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CACTCACTCACCATTCAGATG	0.502												
EXT1	2131	broad.mit.edu	37	8	118817060	118817060	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:118817060A>G	uc003yok.1	-	10	2729	c.1956T>C	c.(1954-1956)TGT>TGC	p.C652C		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	652	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GAATGTCCTCACAATTGGCCA	0.443			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome			
DEPDC6	64798	broad.mit.edu	37	8	120886177	120886177	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:120886177G>A	uc003yow.3	+	1	278	c.91G>A	c.(91-93)GCT>ACT	p.A31T	DEPDC6_uc011lid.1_Missense_Mutation_p.A31T	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	DEP domain containing 6	31					intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding				0	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GGAGCGCATGGCTGAGGTCTT	0.657												
COL14A1	7373	broad.mit.edu	37	8	121256225	121256225	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:121256225C>T	uc003yox.2	+	20	2722	c.2457C>T	c.(2455-2457)AGC>AGT	p.S819S	COL14A1_uc003yoy.2_Silent_p.S497S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	819	Fibronectin type-III 6.				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)			AAGGCGTCAGCGTCTCCGCTC	0.488												
HAS2	3037	broad.mit.edu	37	8	122627011	122627011	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:122627011G>A	uc003yph.2	-	4	1535	c.997C>T	c.(997-999)CGA>TGA	p.R333*		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	333	Cytoplasmic (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CACTTAGATCGAGCTGTGTAT	0.468												
KLHL38	340359	broad.mit.edu	37	8	124663889	124663889	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:124663889G>A	uc003yqs.1	-	1	1302	c.1278C>T	c.(1276-1278)GTC>GTT	p.V426V		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	kelch-like 38	426	Kelch 3.										0						CTTTCACAGCGACTGCGGGGT	0.552												
FAM91A1	157769	broad.mit.edu	37	8	124824810	124824810	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:124824810C>A	uc003yqv.2	+	24	2444	c.2383C>A	c.(2383-2385)CTT>ATT	p.L795I	FAM91A1_uc011lil.1_Missense_Mutation_p.L553I	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	795										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TTCAAGTTTGCTTTCACAGTC	0.383												
FER1L6	654463	broad.mit.edu	37	8	125074138	125074138	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:125074138G>A	uc003yqw.2	+	25	3399	c.3193G>A	c.(3193-3195)GTG>ATG	p.V1065M	uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1065	Cytoplasmic (Potential).|C2 4.					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GAGCATCTGCGTGGTGGACTG	0.557												
TG	7038	broad.mit.edu	37	8	133899619	133899619	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:133899619C>T	uc003ytw.2	+	9	2043	c.2002C>T	c.(2002-2004)CGC>TGC	p.R668C		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	668	Thyroglobulin type-1 6.				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)		GCAAAGGGCTCGCATGCAAAG	0.557												
ZFAT	57623	broad.mit.edu	37	8	135649947	135649947	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:135649947C>T	uc003yup.2	-	3	380	c.205G>A	c.(205-207)GTC>ATC	p.V69I	ZFAT_uc003yun.2_Missense_Mutation_p.V57I|ZFAT_uc003yuo.2_Missense_Mutation_p.V57I|ZFAT_uc010meh.2_Missense_Mutation_p.V57I|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.V57I|ZFAT_uc010mej.2_Missense_Mutation_p.V69I|ZFAT_uc003yur.2_Missense_Mutation_p.V57I	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	69					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTCTTCATGACCAAAAACTCT	0.522												
KHDRBS3	10656	broad.mit.edu	37	8	136594174	136594174	+	Missense_Mutation	SNP	C	C	T	rs150971318		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:136594174C>T	uc003yuv.2	+	6	1059	c.665C>T	c.(664-666)ACG>ATG	p.T222M	KHDRBS3_uc003yuw.2_Missense_Mutation_p.T222M|KHDRBS3_uc010mek.2_RNA	NM_006558	NP_006549	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal	222	Interaction with SIAH1.			Missing: Complete loss of SIAH1-mediated degradation.	regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			ovary(2)	2	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			CCACGAGGGACGCCAACTCCC	0.557												
EIF2C2	27161	broad.mit.edu	37	8	141567204	141567204	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:141567204G>C	uc003yvn.2	-	8	1050	c.1010C>G	c.(1009-1011)ACC>AGC	p.T337S	EIF2C2_uc010men.2_Missense_Mutation_p.T260S|EIF2C2_uc010meo.2_Missense_Mutation_p.T337S	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	337	PAZ.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			GGGAAGGTAGGTGTGTTTCTG	0.607												
DENND3	22898	broad.mit.edu	37	8	142186732	142186732	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:142186732C>T	uc003yvy.2	+	15	2616	c.2338C>T	c.(2338-2340)CCC>TCC	p.P780S	DENND3_uc010mep.2_Missense_Mutation_p.P741S	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	780										ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TCGGAGAATACCCACTTTAAA	0.468												
EPPK1	83481	broad.mit.edu	37	8	144942358	144942358	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:144942358G>A	uc003zaa.1	-	1	5077	c.5064C>T	c.(5062-5064)GGC>GGT	p.G1688G		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1688	Plectin 29.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGATGATGCCGCCCGTGGCGA	0.672												
LRRC14	9684	broad.mit.edu	37	8	145745377	145745377	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:145745377C>A	uc003zdk.1	+	2	414	c.268C>A	c.(268-270)CTG>ATG	p.L90M	RECQL4_uc003zdj.2_5'Flank|LRRC14_uc003zdl.1_Missense_Mutation_p.L90M|LRRC14_uc003zdo.2_5'Flank	NM_014665	NP_055480	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	90											0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGCTGTTATCCTGGGGCTGAC	0.647												
ARHGAP39	80728	broad.mit.edu	37	8	145771022	145771022	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:145771022C>T	uc003zdt.1	-	7	2687	c.2132G>A	c.(2131-2133)CGG>CAG	p.R711Q	ARHGAP39_uc011llk.1_Missense_Mutation_p.R711Q|ARHGAP39_uc003zds.1_Missense_Mutation_p.R711Q	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	711					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						CACCTTCCGCCGGAAGAGGCC	0.612												
FOXD4	2298	broad.mit.edu	37	9	117619	117619	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:117619G>A	uc003zfz.2	-	1	799	c.501C>T	c.(499-501)CGC>CGT	p.R167R		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	forkhead box D4	167	Fork-head.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system 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			skin(1)	1	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGCCCGGCTCGCGGGGGATCT	0.632												
KANK1	23189	broad.mit.edu	37	9	711849	711849	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:711849G>A	uc003zgl.1	+	7	1732	c.1083G>A	c.(1081-1083)ACG>ACA	p.T361T	KANK1_uc003zgm.2_Silent_p.T361T|KANK1_uc003zgn.1_Silent_p.T361T|KANK1_uc003zgo.1_Silent_p.T361T|KANK1_uc003zgp.1_Silent_p.T361T|KANK1_uc003zgq.2_Silent_p.T203T|KANK1_uc003zgr.1_Silent_p.T203T|KANK1_uc003zgs.1_Silent_p.T203T	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	361	Potential.				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)		AACAGAGCACGCAGAGGATAA	0.557												
DMRT3	58524	broad.mit.edu	37	9	990216	990216	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:990216C>T	uc003zgw.1	+	2	668	c.630C>T	c.(628-630)AAC>AAT	p.N210N		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	210					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TCCAGAAAAACGGAGGCAACC	0.597												
PTPRD	5789	broad.mit.edu	37	9	8518269	8518269	+	Silent	SNP	C	C	T	rs137892356		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:8518269C>T	uc003zkk.2	-	20	1833	c.1122G>A	c.(1120-1122)GCG>GCA	p.A374A	PTPRD_uc003zkp.2_Silent_p.A374A|PTPRD_uc003zkq.2_Silent_p.A374A|PTPRD_uc003zkr.2_Silent_p.A368A|PTPRD_uc003zks.2_Silent_p.A364A|PTPRD_uc003zkl.2_Silent_p.A374A|PTPRD_uc003zkm.2_Silent_p.A361A|PTPRD_uc003zkn.2_Silent_p.A374A|PTPRD_uc003zko.2_Silent_p.A371A	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	374	Fibronectin type-III 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGCGTGTGGTCGCCACCCCAT	0.483										TSP Lung(15;0.13)		
CNTLN	54875	broad.mit.edu	37	9	17394855	17394855	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:17394855A>G	uc003zmz.2	+	15	2429	c.2403A>G	c.(2401-2403)TCA>TCG	p.S801S	CNTLN_uc003zmy.2_Silent_p.S801S|CNTLN_uc010mio.2_Silent_p.S480S	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	801						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		CACACCAGTCAGCAGACAGAG	0.428												
ACO1	48	broad.mit.edu	37	9	32431791	32431791	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:32431791C>T	uc003zqw.3	+	15	1956	c.1801C>T	c.(1801-1803)CGT>TGT	p.R601C	ACO1_uc010mjh.1_Missense_Mutation_p.R435C|ACO1_uc003zqx.3_Missense_Mutation_p.R601C|ACO1_uc003zqy.3_RNA	NM_002197	NP_002188	P21399	ACOC_HUMAN	aconitase 1	601					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GGCAGTGGAGCGTCAGTATGT	0.488											OREG0019130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
UBAP2	55833	broad.mit.edu	37	9	33927811	33927811	+	Silent	SNP	C	C	T	rs144703983	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:33927811C>T	uc003ztq.1	-	20	2468	c.2355G>A	c.(2353-2355)GCG>GCA	p.A785A	UBAP2_uc011loc.1_Silent_p.A694A|UBAP2_uc011lod.1_Silent_p.A518A|UBAP2_uc011loe.1_Silent_p.A540A|UBAP2_uc011lof.1_Silent_p.A710A|UBAP2_uc011log.1_3'UTR|UBAP2_uc003ztn.1_Silent_p.A24A|UBAP2_uc003zto.1_Silent_p.A24A|UBAP2_uc003ztp.1_Silent_p.A24A	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	785										ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TCACCAAGGGCGCGGCCCTGC	0.642												
PIGO	84720	broad.mit.edu	37	9	35089116	35089116	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:35089116C>T	uc003zwd.2	-	11	3639	c.3243G>A	c.(3241-3243)AGG>AGA	p.R1081R	PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Silent_p.R664R|PIGO_uc003zwf.2_Silent_p.R664R|PIGO_uc003zwg.1_3'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	1081					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GAAATAGCTGCCTGAACCAGG	0.527												
PIGO	84720	broad.mit.edu	37	9	35095095	35095095	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:35095095G>A	uc003zwd.2	-	2	864	c.468C>T	c.(466-468)CAC>CAT	p.H156H	PIGO_uc003zwc.1_Silent_p.H156H|PIGO_uc003zwe.2_Silent_p.H156H|PIGO_uc003zwf.2_Silent_p.H156H|PIGO_uc003zwg.1_Translation_Start_Site	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	156					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCACTATGGCGTGGCTGGCGA	0.517												
TMEM8B	51754	broad.mit.edu	37	9	35842713	35842713	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:35842713C>T	uc003zym.2	+	7	1293	c.278C>T	c.(277-279)GCG>GTG	p.A93V	TMEM8B_uc003zyk.2_Missense_Mutation_p.A93V|TMEM8B_uc003zyl.2_Missense_Mutation_p.A260V|TMEM8B_uc003zyn.2_Intron|TMEM8B_uc003zyo.2_Missense_Mutation_p.A93V	NM_001042589	NP_001036054	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B isoform a	93	Extracellular (Potential).				cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			ovary(1)	1						CAGCTCAATGCGGTACTCTTT	0.617												
FBXO10	26267	broad.mit.edu	37	9	37537214	37537214	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:37537214G>A	uc004aab.2	-	3	1361	c.1312C>T	c.(1312-1314)CGG>TGG	p.R438W	FBXO10_uc004aac.2_Missense_Mutation_p.R454W|FBXO10_uc004aad.2_Intron	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	F-box protein 10	438	PbH1 3.					ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(5)	5				GBM - Glioblastoma multiforme(29;0.0107)		TTCCCGTCCCGGAAGAGGCAC	0.582												
TMEM2	23670	broad.mit.edu	37	9	74309467	74309467	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:74309467A>G	uc011lsa.1	-	21	4194	c.3654T>C	c.(3652-3654)CCT>CCC	p.P1218P	TMEM2_uc011lrz.1_Silent_p.P211P|TMEM2_uc010mos.2_Silent_p.P1155P|TMEM2_uc011lsb.1_RNA|TMEM2_uc004aik.2_Silent_p.P52P	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	1218						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)		CTGCTTTATCAGGTGACTGGA	0.348												
C9orf79	286234	broad.mit.edu	37	9	90502650	90502650	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:90502650T>C	uc004app.3	+	4	3283	c.3248T>C	c.(3247-3249)GTT>GCT	p.V1083A		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	1083						integral to membrane				ovary(3)	3						TCAGTCTGTGTTGCTCAGGAT	0.602												
S1PR3	1903	broad.mit.edu	37	9	91616512	91616512	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:91616512G>A	uc004aqe.2	+	2	793	c.397G>A	c.(397-399)GCC>ACC	p.A133T		NM_005226	NP_005217	Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	133	Helical; Name=3; (By similarity).				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5						ACTGGCCATCGCCATCGAGCG	0.582											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C9orf129	445577	broad.mit.edu	37	9	96097723	96097723	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:96097723C>T	uc010mre.2	-	3	662	c.298G>A	c.(298-300)GCC>ACC	p.A100T		NM_001098808	NP_001092278	Q5T035	CI129_HUMAN	hypothetical protein LOC445577	100										ovary(1)	1						GGGAAGTAGGCGGAATCCACG	0.617												
FANCC	2176	broad.mit.edu	37	9	97869413	97869413	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:97869413G>A	uc004avh.2	-	14	1730	c.1468C>T	c.(1468-1470)CTT>TTT	p.L490F		NM_000136	NP_000127	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	490					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)	1		Acute lymphoblastic leukemia(62;0.138)				TTGAGGAGAAGGTGCCTGATC	0.592			D|Mis|N|F|S			AML|leukemia		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
ZNF782	158431	broad.mit.edu	37	9	99581109	99581109	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:99581109C>T	uc004awp.1	-	6	1477	c.1196G>A	c.(1195-1197)TGC>TAC	p.C399Y	ZNF782_uc011lup.1_Missense_Mutation_p.C267Y	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	399	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)				GGCTTTCCCGCACTCAGGACA	0.428												
TRIM14	9830	broad.mit.edu	37	9	100854204	100854204	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:100854204C>T	uc004ayd.2	-	5	798	c.780G>A	c.(778-780)TCG>TCA	p.S260S	TRIM14_uc004ayf.1_Silent_p.S167S|TRIM14_uc011luz.1_Silent_p.S38S|TRIM14_uc011lva.1_Silent_p.S41S|TRIM14_uc004ayg.1_Silent_p.S260S|TRIM14_uc004ayh.1_Silent_p.S260S|TRIM14_uc004ayi.1_Intron|TRIM14_uc004ayj.1_Silent_p.S167S	NM_033220	NP_150089	Q14142	TRI14_HUMAN	tripartite motif protein TRIM14 isoform alpha	260	B30.2/SPRY.					cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.0559)				TCAGCAATAGCGATCGCTCTG	0.537												
CORO2A	7464	broad.mit.edu	37	9	100887136	100887136	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:100887136G>A	uc004ayl.2	-	12	1764	c.1498C>T	c.(1498-1500)CTG>TTG	p.L500L	CORO2A_uc004aym.2_Silent_p.L500L|CORO2A_uc004ayk.2_Silent_p.L147L	NM_003389	NP_003380	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	500	Potential.				actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			skin(2)|ovary(1)|pancreas(1)	4		Acute lymphoblastic leukemia(62;0.0559)				TGGGTCAACAGCTCCCGGAGC	0.567												
INVS	27130	broad.mit.edu	37	9	103035322	103035322	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:103035322T>C	uc004bap.1	+	12	1960	c.1748T>C	c.(1747-1749)ATG>ACG	p.M583T	INVS_uc010mta.1_Missense_Mutation_p.M487T|INVS_uc011lve.1_Missense_Mutation_p.M487T|INVS_uc004bao.1_Missense_Mutation_p.M583T|INVS_uc004baq.1_Missense_Mutation_p.M487T|INVS_uc004bar.1_Missense_Mutation_p.M487T|INVS_uc010mtb.1_Missense_Mutation_p.M257T	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	583	IQ 1.				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)				AATCTCCTCATGAAGCATGAA	0.493												
RNF20	56254	broad.mit.edu	37	9	104312994	104312994	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:104312994C>T	uc004bbn.2	+	10	1289	c.1199C>T	c.(1198-1200)GCA>GTA	p.A400V		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	ring finger protein 20	400					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CAGTTGAAAGCACACTTGGAT	0.493												
CYLC2	1539	broad.mit.edu	37	9	105767799	105767799	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:105767799G>A	uc004bbs.2	+	5	956	c.886G>A	c.(886-888)GCC>ACC	p.A296T		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	296	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)				taagaaggacgccacgaaaga	0.174												
ABCA1	19	broad.mit.edu	37	9	107645350	107645350	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:107645350T>A	uc004bcl.2	-	5	704	c.391A>T	c.(391-393)ACA>TCA	p.T131S	ABCA1_uc004bcm.2_Missense_Mutation_p.T71S	NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	131	Extracellular.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGCTGTAATGTTCTCAGAACT	0.458												
CTNNAL1	8727	broad.mit.edu	37	9	111741587	111741587	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:111741587G>A	uc004bdo.1	-	7	1117	c.1075C>T	c.(1075-1077)CAG>TAG	p.Q359*	CTNNAL1_uc010mts.1_Nonsense_Mutation_p.Q95*|CTNNAL1_uc010mtt.1_Nonsense_Mutation_p.Q359*|CTNNAL1_uc004bdp.1_Nonsense_Mutation_p.Q359*	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	catenin, alpha-like 1	359					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			ovary(1)	1				STAD - Stomach adenocarcinoma(157;0.0768)		GAAATTAACTGCTGCAGTTCC	0.398												
WDR31	114987	broad.mit.edu	37	9	116079127	116079127	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:116079127C>T	uc004bhe.2	-	11	1258	c.1006G>A	c.(1006-1008)GCC>ACC	p.A336T	uc004bhb.2_5'Flank|WDR31_uc004bhc.2_Missense_Mutation_p.A335T|WDR31_uc004bhd.2_Missense_Mutation_p.A211T|WDR31_uc004bhf.2_RNA	NM_001012361	NP_001012361	Q8NA23	WDR31_HUMAN	WD repeat domain 31 isoform 1	336											0						AAGGAGATGGCGTCACCAACA	0.527												
RGS3	5998	broad.mit.edu	37	9	116241776	116241776	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:116241776C>A	uc004bhq.2	+	5	630	c.421C>A	c.(421-423)CTG>ATG	p.L141M	RGS3_uc004bhr.2_Missense_Mutation_p.L29M|RGS3_uc004bhs.2_Translation_Start_Site	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	141	C2.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3						CTTAGGTCAGCTGAGGCTGTC	0.537												
TNC	3371	broad.mit.edu	37	9	117848173	117848173	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:117848173C>T	uc004bjj.3	-	3	2199	c.1837G>A	c.(1837-1839)GAG>AAG	p.E613K	TNC_uc010mvf.2_Missense_Mutation_p.E613K	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	613	EGF-like 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						CTGTAGCCCTCGTTGCAGATG	0.587												
PTGS1	5742	broad.mit.edu	37	9	125140783	125140783	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:125140783G>A	uc004bmg.1	+	4	418	c.283G>A	c.(283-285)GGG>AGG	p.G95R	PTGS1_uc011lys.1_Missense_Mutation_p.G70R|PTGS1_uc010mwb.1_5'UTR|PTGS1_uc004bmf.1_Missense_Mutation_p.G95R|PTGS1_uc004bmh.1_5'UTR|PTGS1_uc011lyt.1_5'UTR	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	95					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)	GCTCACTCACGGGCGCTGGTT	0.627												
ZBTB26	57684	broad.mit.edu	37	9	125681367	125681367	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:125681367G>A	uc004bnj.2	-	2	1059	c.847C>T	c.(847-849)CGT>TGT	p.R283C	ZBTB26_uc004bnk.2_Missense_Mutation_p.R283C	NM_020924	NP_065975	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	283	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCCAGGTGACGAAACACCCTG	0.463												
LHX2	9355	broad.mit.edu	37	9	126777589	126777589	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:126777589C>T	uc004boe.1	+	3	1251	c.512C>T	c.(511-513)GCG>GTG	p.A171V	LHX2_uc010mwi.1_Missense_Mutation_p.A179V	NM_004789	NP_004780	P50458	LHX2_HUMAN	LIM homeobox protein 2	171						nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CACTTCGAGGCGCTGCTGCAG	0.667												
ARPC5L	81873	broad.mit.edu	37	9	127637424	127637424	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:127637424C>T	uc004bpa.3	+	3	479	c.393C>T	c.(391-393)CAC>CAT	p.H131H	ARPC5L_uc011lzq.1_Silent_p.H79H	NM_030978	NP_112240	Q9BPX5	ARP5L_HUMAN	actin related protein 2/3 complex, subunit	131					regulation of actin filament polymerization	cytoplasm|cytoskeleton	actin binding				0						TCCAGTGGCACGAAAAGGTAT	0.507												
FAM125B	89853	broad.mit.edu	37	9	129154437	129154437	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:129154437C>T	uc004bqh.1	+	5	583	c.502C>T	c.(502-504)CGG>TGG	p.R168W	FAM125B_uc004bqg.1_Missense_Mutation_p.R168W|FAM125B_uc011lzy.1_Missense_Mutation_p.R153W|FAM125B_uc010mxd.2_Missense_Mutation_p.R161W|FAM125B_uc011lzz.1_Missense_Mutation_p.R161W	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN	hypothetical protein LOC89853 isoform 1	168	MABP.				protein transport	late endosome membrane					0						GATCATGGGCCGGACCAAGCA	0.507												
ZBTB34	403341	broad.mit.edu	37	9	129642791	129642791	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:129642791G>A	uc004bqm.3	+	2	1198	c.1101G>A	c.(1099-1101)CCG>CCA	p.P367P		NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ATTGGTACCCGTACAATGAGA	0.537												
FAM129B	64855	broad.mit.edu	37	9	130271277	130271277	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:130271277C>T	uc004brh.2	-	10	1497	c.1295G>A	c.(1294-1296)CGA>CAA	p.R432Q	FAM129B_uc004bri.2_Missense_Mutation_p.R419Q|FAM129B_uc004brj.3_Missense_Mutation_p.R432Q	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	432							protein binding				0						GATCTGGGCTCGCTGCTTGAA	0.637												
ODF2	4957	broad.mit.edu	37	9	131221920	131221920	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:131221920C>A	uc011mbd.1	+	3	418	c.107C>A	c.(106-108)CCC>CAC	p.P36H	ODF2_uc011maz.1_Missense_Mutation_p.P36H|ODF2_uc011mba.1_5'UTR|ODF2_uc010myb.2_5'UTR|ODF2_uc011mbb.1_5'UTR|ODF2_uc011mbc.1_5'UTR|ODF2_uc004bva.2_5'UTR|ODF2_uc004bvb.2_5'UTR|ODF2_uc011mbe.1_5'UTR|ODF2_uc004bvc.2_5'UTR|ODF2_uc010myc.2_Missense_Mutation_p.P36H|ODF2_uc011mbf.1_Missense_Mutation_p.P36H|ODF2_uc004bvd.3_Missense_Mutation_p.P36H|ODF2_uc004bve.2_Missense_Mutation_p.P36H	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2 isoform 1	36					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1						TGTGGCGCACCCAGTGTAACT	0.517												
WDR34	89891	broad.mit.edu	37	9	131396155	131396155	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:131396155C>T	uc004bvq.1	-	9	1603	c.1479G>A	c.(1477-1479)CAG>CAA	p.Q493Q	WDR34_uc004bvs.1_Silent_p.Q484Q|WDR34_uc004bvr.1_Silent_p.Q465Q	NM_052844	NP_443076	Q96EX3	WDR34_HUMAN	WD repeat domain 34	493	WD 5.					cytoplasm				central_nervous_system(2)|skin(1)	3						GCTGAGTCTGCTGGCTGTTGA	0.562												
DOLK	22845	broad.mit.edu	37	9	131708027	131708027	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:131708027T>C	uc004bwr.2	-	1	1986	c.1556A>G	c.(1555-1557)TAC>TGC	p.Y519C	NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN	dolichol kinase	519	Cytoplasmic (Potential).				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity				0						CTGTGTAGTGTATGCTTCCAG	0.473												
SH3GLB2	56904	broad.mit.edu	37	9	131771036	131771036	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:131771036G>A	uc004bwv.2	-	11	1261	c.1115C>T	c.(1114-1116)CCT>CTT	p.P372L	SH3GLB2_uc004bww.2_Missense_Mutation_p.P381L|SH3GLB2_uc004bwx.1_Missense_Mutation_p.P372L|SH3GLB2_uc011mbm.1_Missense_Mutation_p.P381L	NM_020145	NP_064530	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	372	SH3.				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding				0						GAGCCAGTCAGGGTCCATGCC	0.602											OREG0003926	type=REGULATORY REGION|Gene=SH3GLB2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
SH3GLB2	56904	broad.mit.edu	37	9	131777085	131777085	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:131777085G>A	uc004bwv.2	-	4	579	c.433C>T	c.(433-435)CGC>TGC	p.R145C	SH3GLB2_uc004bww.2_Missense_Mutation_p.R145C|SH3GLB2_uc004bwx.1_Missense_Mutation_p.R145C|SH3GLB2_uc011mbm.1_Missense_Mutation_p.R145C	NM_020145	NP_064530	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	145	BAR.				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding				0						AGGAAGTTGCGCAAGGGTGTG	0.572												
USP20	10868	broad.mit.edu	37	9	132630629	132630629	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:132630629G>A	uc004bys.2	+	11	1247	c.1036G>A	c.(1036-1038)GAG>AAG	p.E346K	USP20_uc004byr.2_Missense_Mutation_p.E346K|USP20_uc004byt.1_Missense_Mutation_p.E346K	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN	ubiquitin specific protease 20	346					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			lung(1)|breast(1)	2		Ovarian(14;0.00556)				GCAAGTGGACGAGGACGCTGA	0.667												
LAMC3	10319	broad.mit.edu	37	9	133951290	133951290	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:133951290G>A	uc004caa.1	+	21	3665	c.3567G>A	c.(3565-3567)GCG>GCA	p.A1189A		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	1189	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCAGCTACGCGCTTCTCTGGA	0.617												
NUP214	8021	broad.mit.edu	37	9	134074323	134074323	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:134074323G>A	uc004cag.2	+	29	5553	c.5442G>A	c.(5440-5442)CAG>CAA	p.Q1814Q	NUP214_uc004cah.2_Silent_p.Q1804Q|NUP214_uc004cai.2_Silent_p.Q1244Q|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Silent_p.Q640Q|NUP214_uc011mcf.1_Silent_p.Q591Q|NUP214_uc010mzh.1_Silent_p.Q328Q|NUP214_uc010mzi.1_Silent_p.Q328Q	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	1814	Pro/Ser/Thr-rich.|11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GCTTTGGACAGGGAGGCTCTG	0.532			T	DEK|SET|ABL1	AML|T-ALL							
RAPGEF1	2889	broad.mit.edu	37	9	134459910	134459910	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:134459910T>C	uc004cbc.2	-	20	2879	c.2749A>G	c.(2749-2751)ATG>GTG	p.M917V	RAPGEF1_uc004cbb.2_Missense_Mutation_p.M935V	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	917	Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		ATTACCTTCATGATCTTGATG	0.582												
SETX	23064	broad.mit.edu	37	9	135201786	135201786	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:135201786C>T	uc004cbk.2	-	10	5382	c.5199G>A	c.(5197-5199)GTG>GTA	p.V1733V	SETX_uc004cbj.2_Silent_p.V1352V|SETX_uc010mzt.2_Silent_p.V1352V	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	1733					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATCTGACAGGCACAGGTCTTG	0.358												
TTF1	7270	broad.mit.edu	37	9	135251410	135251410	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:135251410G>A	uc004cbl.2	-	11	2662	c.2610C>T	c.(2608-2610)GAC>GAT	p.D870D	TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Silent_p.D355D	NM_007344	NP_031370	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase	870					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CTTCACTATCGTCTTCATAAT	0.254												
DDX31	64794	broad.mit.edu	37	9	135487481	135487481	+	Missense_Mutation	SNP	C	C	T	rs148432033		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:135487481C>T	uc004cbq.1	-	19	2454	c.2302G>A	c.(2302-2304)GTG>ATG	p.V768M	DDX31_uc010mzu.1_Missense_Mutation_p.V695M	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	768						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TACCTTTTCACGTGTGCTTTC	0.532												
C9orf96	169436	broad.mit.edu	37	9	136268949	136268949	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:136268949C>T	uc004cdk.2	+	15	1661	c.1600C>T	c.(1600-1602)CTG>TTG	p.L534L	C9orf96_uc004cdl.2_RNA	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	hypothetical protein LOC169436	534							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)		GCTGTCCCTGCTGGGTGAGCT	0.682												
ADAMTS13	11093	broad.mit.edu	37	9	136320407	136320407	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:136320407T>G	uc004cdv.3	+	25	3694	c.3250T>G	c.(3250-3252)TGC>GGC	p.C1084G	ADAMTS13_uc004cdp.3_Missense_Mutation_p.C311G|ADAMTS13_uc004cdt.1_Missense_Mutation_p.C1084G|ADAMTS13_uc004cdu.1_Missense_Mutation_p.C1053G|ADAMTS13_uc004cdw.3_Missense_Mutation_p.C1084G|ADAMTS13_uc004cdx.3_Missense_Mutation_p.C1053G|ADAMTS13_uc004cdz.3_Missense_Mutation_p.C754G|ADAMTS13_uc004cea.1_5'Flank|ADAMTS13_uc004ceb.3_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1084	TSP type-1 8.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTCTTGGCAGTGCTCTGTTTC	0.473												
ADAMTSL2	9719	broad.mit.edu	37	9	136403509	136403509	+	Missense_Mutation	SNP	C	C	T	rs139661631		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:136403509C>T	uc011mdl.1	+	4	829	c.272C>T	c.(271-273)ACG>ATG	p.T91M	ADAMTSL2_uc004cei.2_Missense_Mutation_p.T91M	NM_001145320	NP_001138792	Q86TH1	ATL2_HUMAN	ADAMTS-like 2 precursor	91	TSP type-1 1.				negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		AGGACCTGCACGGGCACGTCC	0.652												
VAV2	7410	broad.mit.edu	37	9	136637093	136637093	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:136637093G>A	uc004ces.2	-	26	2257	c.2211C>T	c.(2209-2211)TTC>TTT	p.F737F	VAV2_uc004cer.2_Silent_p.F727F|VAV2_uc004cet.1_Silent_p.F276F	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	737	SH2.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GGAGGCTGTCGAATTTCTTGG	0.602												
CAMSAP1	157922	broad.mit.edu	37	9	138713422	138713422	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:138713422C>T	uc004cgr.3	-	11	3085	c.3085G>A	c.(3085-3087)GAA>AAA	p.E1029K	CAMSAP1_uc004cgq.3_Missense_Mutation_p.E919K|CAMSAP1_uc010nbg.2_Missense_Mutation_p.E751K	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	1029						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CTGATGGTTTCGTTAAGCTTC	0.527												
NOTCH1	4851	broad.mit.edu	37	9	139391870	139391870	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:139391870G>A	uc004chz.2	-	34	6321	c.6321C>T	c.(6319-6321)CAC>CAT	p.H2107H		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	2107	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)		TCACGATGTCGTGATGCATGC	0.672			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)		
TRAF2	7186	broad.mit.edu	37	9	139820309	139820309	+	Missense_Mutation	SNP	G	G	A	rs142412558	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:139820309G>A	uc010nbu.2	+	12	1635	c.1462G>A	c.(1462-1464)GAT>AAT	p.D488N	TRAF2_uc004cjv.2_Missense_Mutation_p.D488N|TRAF2_uc011mek.1_Missense_Mutation_p.D477N|TRAF2_uc010nbw.2_Missense_Mutation_p.D463N	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	488	MATH.				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)|skin(1)	4	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CGTGCGGGACGATGCCATCTT	0.597												
PPP2R3B	28227	broad.mit.edu	37	X	306335	306335	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:306335C>T	uc004cpg.2	-	7	1153	c.952G>A	c.(952-954)GTC>ATC	p.V318I	PPP2R3B_uc011mha.1_Missense_Mutation_p.V157I	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	318					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				0		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)				CAGTAGATGACGTAGAAATGC	0.617												
TLR8	51311	broad.mit.edu	37	X	12939516	12939516	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:12939516G>T	uc004cve.2	+	2	2425	c.2357G>T	c.(2356-2358)TGG>TTG	p.W786L	TLR8_uc004cvd.2_Missense_Mutation_p.W804L	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	786	Extracellular (Potential).|LRRCT.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						TTCCGAAGATGGATGGATGAA	0.438												
BMX	660	broad.mit.edu	37	X	15543416	15543416	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:15543416G>A	uc004cww.2	+	8	946	c.758G>A	c.(757-759)AGC>AAC	p.S253N	BMX_uc004cwx.3_Missense_Mutation_p.S253N|BMX_uc004cwy.3_Missense_Mutation_p.S253N	NM_203281	NP_975010	P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	253	Poly-Ser.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			lung(3)|ovary(2)	5	Hepatocellular(33;0.183)					TGCAGTAGCAGCAGCAGTGAA	0.294												
ACE2	59272	broad.mit.edu	37	X	15585915	15585915	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:15585915C>T	uc004cxa.1	-	15	2099	c.1931G>A	c.(1930-1932)CGA>CAA	p.R644Q	ACE2_uc004cxb.2_Missense_Mutation_p.R644Q	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2 precursor	644	Extracellular (Potential).				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			ovary(3)	3	Hepatocellular(33;0.183)				Moexipril(DB00691)	AACAGATGATCGGAACAGGTA	0.373												
NHS	4810	broad.mit.edu	37	X	17705908	17705908	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:17705908C>T	uc004cxx.2	+	2	950	c.612C>T	c.(610-612)CGC>CGT	p.R204R	NHS_uc011mix.1_Silent_p.R204R|NHS_uc004cxy.2_Silent_p.R27R|NHS_uc004cxz.2_Silent_p.R27R|NHS_uc004cya.2_5'UTR	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	204						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					TGTACTACCGCGCCCCGTGGC	0.602												
PHEX	5251	broad.mit.edu	37	X	22117151	22117151	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:22117151G>A	uc004dah.2	+	9	1164	c.961G>A	c.(961-963)GTC>ATC	p.V321I	PHEX_uc011mjr.1_Missense_Mutation_p.V321I|PHEX_uc011mjs.1_Missense_Mutation_p.V224I	NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase	321	Extracellular (Potential).				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3						CATCAAGAAGGTCATTGACAC	0.473												
DCAF8L1	139425	broad.mit.edu	37	X	27997798	27997798	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:27997798C>T	uc004dbx.1	-	1	1769	c.1654G>A	c.(1654-1656)GTG>ATG	p.V552M		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	552										ovary(3)|skin(1)	4						AGGTGACGCACGAAGAACCGA	0.478												
DMD	1756	broad.mit.edu	37	X	31676228	31676228	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:31676228T>G	uc004dda.1	-	54	8150	c.7906A>C	c.(7906-7908)AAT>CAT	p.N2636H	DMD_uc004dcr.1_Missense_Mutation_p.N176H|DMD_uc004dcs.1_Missense_Mutation_p.N176H|DMD_uc004dct.1_Missense_Mutation_p.N176H|DMD_uc004dcu.1_Missense_Mutation_p.N176H|DMD_uc004dcv.1_Missense_Mutation_p.N176H|DMD_uc004dcw.2_Missense_Mutation_p.N1292H|DMD_uc004dcx.2_Missense_Mutation_p.N1295H|DMD_uc004dcz.2_Missense_Mutation_p.N2513H|DMD_uc004dcy.1_Missense_Mutation_p.N2632H|DMD_uc004ddb.1_Missense_Mutation_p.N2628H	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2636	Spectrin 18.				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)				ACATCTACATTTGTCTGCCAC	0.403												
DMD	1756	broad.mit.edu	37	X	31792185	31792185	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:31792185A>G	uc004dda.1	-	51	7678	c.7434T>C	c.(7432-7434)GCT>GCC	p.A2478A	DMD_uc004dcr.1_Silent_p.A18A|DMD_uc004dcs.1_Silent_p.A18A|DMD_uc004dct.1_Silent_p.A18A|DMD_uc004dcu.1_Silent_p.A18A|DMD_uc004dcv.1_Silent_p.A18A|DMD_uc004dcw.2_Silent_p.A1134A|DMD_uc004dcx.2_Silent_p.A1137A|DMD_uc004dcz.2_Silent_p.A2355A|DMD_uc004dcy.1_Silent_p.A2474A|DMD_uc004ddb.1_Silent_p.A2470A|DMD_uc004ddd.1_Silent_p.A18A	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2478	Spectrin 17.				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)				GTTCTGTCCAAGCCCGGTTGA	0.458												
USP11	8237	broad.mit.edu	37	X	47098875	47098875	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:47098875C>T	uc004dhp.2	+	3	541	c.541C>T	c.(541-543)CGC>TGC	p.R181C	USP11_uc004dhq.2_Translation_Start_Site	NM_004651	NP_004642	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	181	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)|lung(1)|central_nervous_system(1)	3						ACCCATTGAACGCAAGGTATA	0.557												
PAGE1	8712	broad.mit.edu	37	X	49459349	49459349	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:49459349A>G	uc004dom.2	-	2	158	c.25T>C	c.(25-27)TAT>CAT	p.Y9H		NM_003785	NP_003776	O75459	GAGB1_HUMAN	P antigen family, member 1	9					cellular defense response					skin(1)	1	Ovarian(276;0.236)					CTACGCCGATAGATTAATCTT	0.373												
KDM5C	8242	broad.mit.edu	37	X	53228052	53228052	+	Silent	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:53228052A>G	uc004drz.2	-	16	2795	c.2262T>C	c.(2260-2262)GAT>GAC	p.D754D	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Silent_p.D687D|KDM5C_uc004dsa.2_Silent_p.D753D	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	754					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						CAGGAAGCTCATCCAAGGTAT	0.582			N|F|S		clear cell renal carcinoma							
XKRX	402415	broad.mit.edu	37	X	100169759	100169759	+	Silent	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:100169759G>A	uc004egn.2	-	3	1523	c.918C>T	c.(916-918)GTC>GTT	p.V306V	XKRX_uc011mre.1_Silent_p.V102V	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related,	306	Helical; (Potential).					integral to membrane|plasma membrane				breast(1)	1						CCAGAGTGCCGACCCGGCTGA	0.498												
AMOT	154796	broad.mit.edu	37	X	112035060	112035060	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:112035060C>A	uc004epr.2	-	6	1926	c.1926G>T	c.(1924-1926)CAG>CAT	p.Q642H	AMOT_uc004eps.2_Missense_Mutation_p.Q233H	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	642	Potential.				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						TTCTCCATACCTGCTGGATTC	0.443												
DOCK11	139818	broad.mit.edu	37	X	117722266	117722266	+	Silent	SNP	C	C	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:117722266C>T	uc004eqp.2	+	17	2025	c.1962C>T	c.(1960-1962)AGC>AGT	p.S654S	DOCK11_uc004eqq.2_Silent_p.S420S	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	654	DHR-1.				blood coagulation	cytosol	GTP binding			ovary(3)	3						AATACGATAGCCAGAAAACAT	0.294												
THOC2	57187	broad.mit.edu	37	X	122805587	122805587	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:122805587G>C	uc004etu.2	-	9	826	c.794C>G	c.(793-795)TCT>TGT	p.S265C	THOC2_uc011muh.1_Missense_Mutation_p.S186C|THOC2_uc011mui.1_Missense_Mutation_p.S150C	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	265					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						TCTGTATAAAGATGATGGTGT	0.323												
MAMLD1	10046	broad.mit.edu	37	X	149639052	149639052	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:149639052A>G	uc004fee.1	+	3	1283	c.1207A>G	c.(1207-1209)ATG>GTG	p.M403V	MAMLD1_uc011mxt.1_Missense_Mutation_p.M365V|MAMLD1_uc011mxu.1_Missense_Mutation_p.M378V|MAMLD1_uc011mxv.1_Missense_Mutation_p.M378V|MAMLD1_uc011mxw.1_Missense_Mutation_p.M330V	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	403					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGCCCGCCATGCCCTATGC	0.587												
SRPK3	26576	broad.mit.edu	37	X	153050422	153050422	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:153050422G>A	uc004fil.2	+	13	1422	c.1390G>A	c.(1390-1392)GAG>AAG	p.E464K	SRPK3_uc004fik.2_Missense_Mutation_p.E530K|SRPK3_uc010nul.2_Missense_Mutation_p.E388K|SRPK3_uc004fin.2_Missense_Mutation_p.E463K|SRPK3_uc004fim.2_Missense_Mutation_p.E430K	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	serine arginine rich protein-specific kinase 3	464	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			pancreas(2)|lung(1)	3	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CTACCTGTTCGAGCCGCATTC	0.682												
MECP2	4204	broad.mit.edu	37	X	153296471	153296471	+	Nonsense_Mutation	SNP	G	G	A	rs62931162		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:153296471G>A	uc004fjv.2	-	4	1034	c.808C>T	c.(808-810)CGA>TGA	p.R270*	MECP2_uc004fjw.2_Nonsense_Mutation_p.R282*	NM_004992	NP_004983	P51608	MECP2_HUMAN	methyl CpG binding protein 2 isoform 1	270	A.T hook 2.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity				0	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)					CCCGGCTTTCGGCCCCGTTTC	0.622												
TMED8	283578	broad.mit.edu	37	14	77802683	77802683	+	RNA	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:77802683delA	uc010ast.1	-	7		c.2185delT				NM_213601		Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain						transport	integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CCTGGGGCCTAAAAAAATCAG	0.378												
THADA	63892	broad.mit.edu	37	2	43799004	43799004	+	Splice_Site	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:43799003_43799003TA>T	uc002rsw.4	-	13	2261	c.1909_splice	c.e13-1	p.V637_splice	THADA_uc010far.3_5'Flank|THADA_uc002rsx.4_Splice_Site_p.V637_splice|THADA_uc002rsy.4_Splice_Site|THADA_uc010fas.1_Splice_Site|THADA_uc002rsz.3_Splice_Site_p.V347_splice|THADA_uc010fat.1_5'Flank|THADA_uc002rta.2_Splice_Site_p.V347_splice|THADA_uc002rtb.1_Splice_Site_p.V637_splice|THADA_uc002rtc.4_Splice_Site_p.V637_splice|THADA_uc002rtd.3_Splice_Site_p.V637_splice	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	637							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TATCCTTACCTAAAAAACATC	0.318												
PSME4	23198	broad.mit.edu	37	2	54167140	54167140	+	Splice_Site	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	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												
KIAA1841	84542	broad.mit.edu	37	2	61304296	61304296	+	Splice_Site	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:61304295_61304295TA>T	uc002saw.4	+	6	973	c.670_splice	c.e6+2	p.E224_splice	KIAA1841_uc002sax.4_Splice_Site_p.E78_splice|KIAA1841_uc002say.3_Splice_Site_p.E224_splice|KIAA1841_uc002sav.4_Splice_Site_p.E224_splice	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Homo sapiens KIAA1841 (KIAA1841), transcript variant 1, mRNA.	224										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			CCACTTTAGGTAAAAAACAAT	0.358												
C2orf42	54980	broad.mit.edu	37	2	70406777	70406777	+	Splice_Site	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:70406776_70406776TA>T	uc002sgh.3	-	4	1152	c.824_splice	c.e4-1	p.G275_splice		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	275										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CTTTAAGACCTAAAAAAAAGA	0.353												
IFIH1	64135	broad.mit.edu	37	2	163134716	163134717	+	Splice_Site	INS	-	-	T	rs150760072		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:163134715_163134716C>CT	uc002uce.3	-	9	1987	c.1765_splice	c.e9+1	p.A589_splice		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	589					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CCTAAATTACCTTTTTTTTCCA	0.327												
TRIP12	9320	broad.mit.edu	37	2	230668408	230668408	+	Splice_Site	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:230668407_230668407TA>T	uc002vpx.1	-	20	2908	c.2799_splice	c.e20-1	p.S933_splice	TRIP12_uc021vxw.1_Splice_Site_p.S918_splice|TRIP12_uc002vpy.1_Splice_Site_p.S615_splice|TRIP12_uc002vpw.1_Splice_Site_p.S885_splice|TRIP12_uc010zlz.1_Intron	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	885					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GCAATGTGACTAAAAAAAGAA	0.343												
MYLK	4638	broad.mit.edu	37	3	123368044	123368045	+	Splice_Site	INS	-	-	G	rs138786404		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:123368043_123368044T>TG	uc003ego.3	-	25	4571	c.4289_splice	c.e25-1	p.E1430_splice	MYLK_uc010hrr.3_Splice_Site|MYLK_uc011bjv.2_Splice_Site_p.E230_splice|MYLK_uc011bjw.2_Splice_Site_p.E1430_splice|MYLK_uc003egp.3_Splice_Site_p.E1361_splice|MYLK_uc003egq.3_Splice_Site_p.E1430_splice|MYLK_uc003egr.3_Splice_Site_p.E1361_splice|MYLK_uc003egs.3_Splice_Site_p.E1254_splice	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1430	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTTCGGCTCTGGGGGGGGCAC	0.624												
ITGA2	3673	broad.mit.edu	37	5	52351982	52351982	+	Splice_Site	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:52351981_52351981TA>T	uc003joy.3	+	9	1239	c.1096_splice	c.e9+2	p.G366_splice	ITGA2_uc011cqa.2_Splice_Site|ITGA2_uc011cqb.2_Splice_Site|ITGA2_uc011cqc.2_Splice_Site_p.G290_splice|ITGA2_uc011cqd.2_Splice_Site|ITGA2_uc011cqe.2_Splice_Site	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	366					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GCATTGAAGGTAAAAAAAATA	0.294												
MTSS1	9788	broad.mit.edu	37	8	125597329	125597329	+	Splice_Site	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:125597328_125597328CT>C	uc003yrl.2	-	6	994	c.460_splice	c.e6+1	p.V154_splice	MTSS1_uc003yrj.2_Splice_Site_p.G154_splice|MTSS1_uc003yrk.2_Splice_Site_p.G154_splice	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	153	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TAGGAGTTACCTTTTTTTGCT	0.373												
UPF2	26019	broad.mit.edu	37	10	11998525	11998525	+	Splice_Site	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:11998524_11998524TA>T	uc001ila.3	-	12	2845	c.2371_splice	c.e12-1	p.V791_splice	UPF2_uc001ilb.3_Splice_Site_p.V791_splice|UPF2_uc001ilc.3_Splice_Site_p.V791_splice|UPF2_uc009xiz.2_Splice_Site_p.V791_splice	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	791	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TCTCAAAACCTAAAAAAAGAG	0.328												
ARHGAP19	84986	broad.mit.edu	37	10	99019160	99019160	+	Splice_Site	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:99019159_99019159AT>A	uc001knb.3	-	5	886	c.840_splice	c.e5+1	p.N280_splice	ARHGAP19_uc001kmy.3_Splice_Site|ARHGAP19_uc001kna.3_Splice_Site_p.N271_splice|ARHGAP19_uc009xvj.3_Splice_Site_p.N280_splice|ARHGAP19_uc009xvi.3_Splice_Site|ARHGAP19_uc009xvk.3_Splice_Site_p.N74_splice	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN	Homo sapiens Rho GTPase activating protein 19 (ARHGAP19), transcript variant 1, mRNA.	280	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		CAACACTCACATTTTTTGGCC	0.448												
ZFP91	80829	broad.mit.edu	37	11	58377810	58377810	+	Splice_Site	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:58377809_58377809TA>T	uc001nmx.4	+	4	785	c.617_splice	c.e4+2	p.S206_splice	ZFP91_uc001nmy.4_Splice_Site_p.S206_splice|CNTF_uc010rkm.2_Splice_Site	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	Homo sapiens zinc finger protein 91 homolog (mouse) (ZFP91), transcript variant 1, mRNA.	206	Glu-rich.			Missing (in Ref. 4; AAH51743).	activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGGCATTAGGTAAAAAAAACA	0.313												
ATL3	25923	broad.mit.edu	37	11	63420050	63420050	+	Splice_Site	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:63420049_63420049TA>T	uc001nxk.1	-	4	682	c.406_splice	c.e4-1	p.V136_splice	ATL3_uc010rms.1_Splice_Site_p.V118_splice	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	Homo sapiens atlastin GTPase 3 (ATL3), mRNA.	136					Golgi organization|endoplasmic reticulum organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AACTGCAACCTAAAAAAAAGG	0.373												
EFCAB4B	84766	broad.mit.edu	37	12	3788267	3788267	+	Splice_Site	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:3788266_3788266TG>T	uc010sen.1	-	6	913	c.341_splice	c.e6-1	p.S114_splice	EFCAB4B_uc001qmj.2_Splice_Site_p.S114_splice	NM_001144958	NP_001138430	Q9BSW2	EFC4B_HUMAN	Homo sapiens EF-hand calcium binding domain 4B (EFCAB4B), transcript variant 1, mRNA.	114	EF-hand 2.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			AGAAGTGACCTGGGGGGTGCA	0.522												
LMAN1	3998	broad.mit.edu	37	18	57013285	57013285	+	Splice_Site	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:57013284_57013284CT>C	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	CTGGTGTGGGCTTTTTTTTGG	0.294												
RTTN	25914	broad.mit.edu	37	18	67781838	67781838	+	Splice_Site	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:67781837_67781837TA>T	uc002lkp.2	-	27	3597	c.3529_splice	c.e27-1	p.S1177_splice	RTTN_uc002lko.2_Splice_Site|RTTN_uc010xfb.1_Splice_Site_p.S265_splice	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	1177							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GTTTGCACTCTAAAAAATGAA	0.358												
ZNF43	7594	broad.mit.edu	37	19	22002026	22002026	+	Splice_Site	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	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												
USP25	29761	broad.mit.edu	37	21	17191019	17191019	+	Splice_Site	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr21:17191018_17191018TA>T	uc011aby.1	+	10	1149	c.932_splice	c.e10-1	p.G311_splice	USP25_uc002yjz.1_Splice_Site_p.G311_splice|USP25_uc010gla.1_Intron|USP25_uc002yjy.1_Splice_Site_p.G311_splice	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	311					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TTCTTATAGGTAAAAAATTTG	0.368												
SLC25A1	6576	broad.mit.edu	37	22	19164720	19164721	+	Splice_Site	DEL	GA	GA	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:19164719_19164720TGA>T	uc021wlb.1	-	4	468	c.463_splice	c.e4-1	p.V155_splice	SLC25A1_uc002zoy.3_Splice_Site_p.V45_splice|SLC25A1_uc002zoz.3_Splice_Site_p.V148_splice	NM_005984	NP_005975	P53007	TXTP_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 (SLC25A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	148					gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process	integral to membrane|mitochondrial inner membrane	citrate transmembrane transporter activity|protein binding			cervix(1)|lung(1)	2	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		GAACTTCACCTGAGAGAGAGAA	0.604												
SMARCB1	6598	broad.mit.edu	37	22	24134057	24134057	+	Splice_Site	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:24134056_24134056TA>T	uc002zyd.3	+	2	412	c.205_splice	c.e2+2	p.D69_splice	SMARCB1_uc002zyg.2_Frame_Shift_Del_p.G69fs|SMARCB1_uc011ajb.1_Splice_Site_p.D69_splice|SMARCB1_uc002zya.3_Frame_Shift_Del_p.G69fs|SMARCB1_uc002zyb.3_Frame_Shift_Del_p.G69fs|SMARCB1_uc002zyc.3_Splice_Site_p.D69_splice|SMARCB1_uc002zye.1_Frame_Shift_Del_p.G32fs|SMARCB1_uc002zyf.1_Splice_Site|SMARCB1_uc010gue.1_Splice_Site	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	78					DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.?(2)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CGTCACATGGTAAAAAAACAA	0.438			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid						
BAIAP2L2	80115	broad.mit.edu	37	22	38493188	38493188	+	Splice_Site	DEL	G	G	-	rs147219790	by1000genomes	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:38493187_38493187TG>T	uc003auw.3	-	7	610	c.466_splice	c.e7-1	p.E156_splice		NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	Homo sapiens BAI1-associated protein 2-like 2 (BAIAP2L2), mRNA.	156	IMD.				filopodium assembly|signal transduction		SH3 domain binding|cytoskeletal adaptor activity			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CACACTCTCCTGGGGGGGAAC	0.637												
C1orf127	148345	broad.mit.edu	37	1	11007833	11007833	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:11007833delC	uc010oao.1	-	8	1917	c.1912delG	c.(1912-1914)GCCfs	p.A638fs	C1orf127_uc001arr.1_Frame_Shift_Del_p.A620fs|C1orf127_uc001ars.1_Frame_Shift_Del_p.A612fs	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	hypothetical protein LOC148345	638										ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TGGAGTGAGGCCCCCCGGCCA	0.627												
CDHR5	53841	broad.mit.edu	37	11	617603	617603	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:617603delG	uc001lqj.2	-	15	2391	c.2286delC	c.(2284-2286)CCCfs	p.P762fs	IRF7_uc009ycb.2_5'Flank|IRF7_uc010qwf.1_5'Flank|IRF7_uc001lqf.2_5'Flank|IRF7_uc010qwg.1_5'Flank|IRF7_uc001lqg.2_5'Flank|IRF7_uc001lqh.2_5'Flank|IRF7_uc001lqi.2_5'Flank|IRF7_uc010qwh.1_5'Flank|CDHR5_uc001lqk.2_Frame_Shift_Del_p.P568fs|CDHR5_uc009ycc.2_Frame_Shift_Del_p.P596fs|CDHR5_uc009ycd.2_Frame_Shift_Del_p.P756fs|CDHR5_uc001lql.2_Frame_Shift_Del_p.P762fs	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	762	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						GGGCCGCTGCGGGGGGCTCAG	0.761												
FNBP4	23360	broad.mit.edu	37	11	47744543	47744543	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:47744543delT	uc009ylv.2	-	15	2943	c.2790delA	c.(2788-2790)AAAfs	p.K930fs	FNBP4_uc001ngi.2_Frame_Shift_Del_p.K244fs|FNBP4_uc001ngj.2_Frame_Shift_Del_p.K837fs	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	930										ovary(1)	1						CTTTCCTTCCTTTTTTTGTCT	0.184												
INPPL1	3636	broad.mit.edu	37	11	71948748	71948748	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:71948748delC	uc001osf.2	+	26	3607	c.3460delC	c.(3460-3462)CCCfs	p.P1154fs	INPPL1_uc001osg.2_Frame_Shift_Del_p.P912fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1154					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						GGAGCTGCAGCCCCCCCGGGG	0.697												
SUCLA2	8803	broad.mit.edu	37	13	48570982	48570982	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:48570982delT	uc001vbs.2	-	2	324	c.267delA	c.(265-267)AAAfs	p.K89fs	SUCLA2_uc010tgb.1_Frame_Shift_Del_p.K29fs|SUCLA2_uc010tgc.1_5'UTR|SUCLA2_uc010tgd.1_Frame_Shift_Del_p.K29fs|SUCLA2_uc001vbt.1_RNA|SUCLA2_uc001vbu.1_Frame_Shift_Del_p.K89fs	NM_003850	NP_003841	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	89	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)	TAGTACCTAATTTTTTGGCAA	0.353												
PTPRS	5802	broad.mit.edu	37	19	5231449	5231449	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:5231449delG	uc002mbv.2	-	14	2261	c.2027delC	c.(2026-2028)CCGfs	p.P676fs	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.1_Intron|PTPRS_uc002mbw.2_Frame_Shift_Del_p.P663fs|PTPRS_uc002mbx.2_Intron|PTPRS_uc002mby.2_Intron	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	676	Extracellular (Potential).|Fibronectin type-III 4.				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)		AGTGGTGGTCGGGGGGATGCC	0.667												
NTN5	126147	broad.mit.edu	37	19	49173894	49173894	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:49173894delC	uc002pkb.2	-	2	446	c.350delG	c.(349-351)GGCfs	p.G117fs	SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|NTN5_uc002pkc.2_Frame_Shift_Del_p.G117fs	NM_145807	NP_665806	Q8WTR8	NET5_HUMAN	netrin 5 precursor	117						extracellular region				large_intestine(1)|pancreas(1)	2						CCTTTCAGGGCCCCCTAAGGC	0.701												
FAHD2B	151313	broad.mit.edu	37	2	97749725	97749725	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:97749725delG	uc002sxm.2	-	7	993	c.842delC	c.(841-843)CCAfs	p.P281fs		NM_199336	NP_955368	Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing	281							hydrolase activity|metal ion binding				0						ACCGACACCTGGGGGGGTCCC	0.552												
PSD2	84249	broad.mit.edu	37	5	139193288	139193288	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:139193288delG	uc003leu.1	+	3	971	c.766delG	c.(766-768)GGGfs	p.G256fs		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	256					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGGGCCCAGGGGGGGATGA	0.587												
RP1L1	94137	broad.mit.edu	37	8	10470757	10470757	+	Frame_Shift_Del	DEL	G	G	-	rs74594406	by1000genomes	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:10470757delG	uc003wtc.2	-	4	1080	c.851delC	c.(850-852)CCGfs	p.P284fs		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	284					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		AGGGCCCACCGGGGGGTTGCT	0.662												
CYP7B1	9420	broad.mit.edu	37	8	65528706	65528706	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:65528706delT	uc003xvj.2	-	3	596	c.392delA	c.(391-393)AATfs	p.N131fs		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	131					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				CATGTCATGATTTTTTTGCAA	0.323												
WISP1	8840	broad.mit.edu	37	8	134237718	134237718	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:134237718delG	uc003yub.2	+	4	772	c.696delG	c.(694-696)CTGfs	p.L232fs	WISP1_uc003yuc.2_Frame_Shift_Del_p.L145fs|WISP1_uc010meb.2_Frame_Shift_Del_p.L60fs|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	232	TSP type-1.				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)			GCTGCGGCCTGGGGGTCTCCA	0.607												
FREM1	158326	broad.mit.edu	37	9	14789027	14789028	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:14789027_14789028delGT	uc003zlm.2	-	23	4656_4657	c.4066_4067delAC	c.(4066-4068)ACCfs	p.T1356fs	FREM1_uc010mic.2_Intron	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	1356	CSPG 9.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		CATTGCCCCGGTGTGTGTGTAT	0.520												
CCDC27	148870	broad.mit.edu	37	1	3688025	3688026	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:3688024_3688025G>GC	uc001akv.2	+	11	1989_1990	c.1908_1909G>GC	c.(1906-1911)gtgcccfs	p.V636fs	LOC388588_uc001akw.4_5'Flank	NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	636										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GCGTCAAAGTGCCCCCCCTGCA	0.550												
PER3	8863	broad.mit.edu	37	1	7858597	7858597	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:7858596_7858596AC>A	uc001aop.3	+	5	880	c.656_656AC>A	c.(655-657)gacfs	p.D219fs	PER3_uc009vmg.1_Frame_Shift_Del_p.D219fs|PER3_uc009vmh.1_Frame_Shift_Del_p.D219fs|PER3_uc001aoo.3_Frame_Shift_Del_p.D218fs|PER3_uc010nzw.2_5'UTR|PER3_uc001aon.3_Frame_Shift_Del_p.D218fs	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGGTGAAGACAGAAAGCAA	0.478												
PTCHD2	57540	broad.mit.edu	37	1	11574466	11574466	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:11574465_11574465TG>T	uc001ash.4	+	3	1473	c.1335_1335TG>T	c.(1333-1335)tatfs	p.Y445fs	PTCHD2_uc001asi.1_Frame_Shift_Del_p.Y445fs	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	445					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGGTTCTCTATGGGGGGACAG	0.512												
PRDM2	7799	broad.mit.edu	37	1	14105166	14105166	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:14105165_14105165AG>A	uc001avi.3	+	7	1731	c.875_875AG>A	c.(874-876)gagfs	p.E292fs	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Frame_Shift_Del_p.E292fs|PRDM2_uc021ogk.1_Frame_Shift_Del_p.E55fs|PRDM2_uc001avk.3_Frame_Shift_Del_p.E91fs|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	292	Asp/Glu-rich (acidic).			EDEEEEEDDDDDELEDEG -> VGGGGGVVVVVSWKARGE (in Ref. 4; AAA87023).		Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ttggaagacgagggggaagaa	0.448												
SPEN	23013	broad.mit.edu	37	1	16259480	16259480	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:16259479_16259479AC>A	uc001axk.1	+	10	6948	c.6744_6744AC>A	c.(6742-6744)caafs	p.Q2248fs	SPEN_uc010obp.1_Frame_Shift_Del_p.Q2207fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2248	Interaction with MSX2 (By similarity).|RID.				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)		CAGATCTGCAACCCCCCGCAG	0.552												
STIL	6491	broad.mit.edu	37	1	47717309	47717309	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:47717308_47717308AT>A	uc001crd.1	-	16	3522	c.3367_3367AT>T	c.(3367-3369)tatfs	p.Y1123fs	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Frame_Shift_Del_p.Y1076fs|STIL_uc010omo.1_Frame_Shift_Del_p.Y1105fs|STIL_uc001crc.1_Frame_Shift_Del_p.Y1122fs|STIL_uc001cre.1_Frame_Shift_Del_p.Y1122fs	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	1122					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CTCTTCATATATTTTTTGGTT	0.373												
DEPDC1	55635	broad.mit.edu	37	1	68960310	68960310	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:68960309_68960309AT>A	uc001dem.4	-	1	235	c.118_118AT>T	c.(118-120)tatfs	p.Y40fs	DEPDC1_uc001dek.4_Non-coding_Transcript|DEPDC1_uc001del.4_Frame_Shift_Del_p.Y40fs|BC020917_uc001den.3_5'Flank	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	Homo sapiens DEP domain containing 1 (DEPDC1), transcript variant 1, mRNA.	40	DEP.				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CAATTGCCATATTTTTTAAAG	0.338												
NEXN	91624	broad.mit.edu	37	1	78392424	78392425	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:78392423_78392424C>CA	uc001dic.4	+	7	1007_1008	c.710_711C>CA	c.(709-711)gcafs	p.A237fs	NEXN_uc001dia.3_Frame_Shift_Ins_p.A223fs|NEXN_uc009wcb.1_Frame_Shift_Ins_p.A159fs|NEXN_uc001dib.4_Frame_Shift_Ins_p.A173fs|NEXN_uc001did.1_Frame_Shift_Ins_p.A147fs|NEXN_uc001dif.1_Frame_Shift_Ins_p.A129fs	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	237	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	Z disc|cytoskeleton	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GAAAGTGAAGCAAAAAAAGAAT	0.356												
GBP7	388646	broad.mit.edu	37	1	89613322	89613323	+	Frame_Shift_Ins	INS	-	-	C	rs138127555		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:89613321_89613322G>GC	uc001dna.2	-	7	1432_1433	c.1293_1294C>GC	c.(1291-1296)gggcacfs	p.G431fs	GBP2_uc001dmy.1_Non-coding_Transcript	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	431						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436												
AMY2B	280	broad.mit.edu	37	1	104122059	104122059	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:104122058_104122058AT>A	uc010ouo.2	+	21	3176	c.1472_1472AT>A	c.(1471-1473)catfs	p.H491fs	AMY2B_uc001duq.3_Frame_Shift_Del_p.H491fs|AMY2B_uc001dur.3_Frame_Shift_Del_p.H491fs|AMY2B_uc001dus.1_Intron	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	491					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GGCAAAGCTCATTTTTCTATT	0.338												
SARS	6301	broad.mit.edu	37	1	109766656	109766657	+	Frame_Shift_Del	DEL	GG	GG	-	rs138598293		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:109766655_109766656CGG>C	uc001dwu.2	+	1	292_293	c.192_193CGG>C	c.(190-195)atcggafs	p.I64fs		NM_006513	NP_006504	P49591	SYSC_HUMAN	Homo sapiens seryl-tRNA synthetase (SARS), transcript variant 1, mRNA.	64					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|RNA binding|protein binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		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)	GCAAGACAATCGGAGAGAAAAT	0.386												
HSD3B1	3283	broad.mit.edu	37	1	120056669	120056669	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:120056668_120056668GA>G	uc001ehv.1	+	3	667	c.522_522GA>G	c.(520-522)ctgfs	p.L174fs		NM_000862	NP_000853	P14060	3BHS1_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA.	174					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	GGTGGAATCTGAAAAACGGCG	0.517												
ADAM30	11085	broad.mit.edu	37	1	120437095	120437095	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:120437094_120437094AT>A	uc001eij.3	-	0	2054	c.1866_1866AT>T	c.(1864-1866)aatfs	p.N622fs		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	622	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TATTGACGCAATTTTTTTTAA	0.448												
NOTCH2	4853	broad.mit.edu	37	1	120458005	120458005	+	Frame_Shift_Del	DEL	C	C	-	rs6685892	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:120458004_120458004AC>A	uc001eik.3	-	33	7638	c.7341_7341GT>T	c.(7339-7341)ggtfs	p.G2447fs		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	2447					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCCTCCAGCACCCCCAGGGG	0.577			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome			
SETDB1	9869	broad.mit.edu	37	1	150933159	150933159	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:150933158_150933158GC>G	uc001evu.2	+	15	2810	c.2620_2620GC>G	c.(2620-2622)gccfs	p.A874fs	SETDB1_uc001evv.2_Frame_Shift_Del_p.A874fs|SETDB1_uc009wmg.2_Frame_Shift_Del_p.A874fs	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	Homo sapiens SET domain, bifurcated 1 (SETDB1), transcript variant 1, mRNA.	874	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|chromosome|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGAGAGTGATGCCCCCTGTTC	0.493												
GPATCH4	54865	broad.mit.edu	37	1	156565504	156565504	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:156565503_156565503CT>C	uc001fpm.3	-	7	678	c.630_630AG>G	c.(628-630)aagfs	p.K210fs	APOA1BP_uc010php.1_Intron|GPATCH4_uc001fpl.3_Frame_Shift_Del_p.K205fs	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN	Homo sapiens G patch domain containing 4 (GPATCH4), transcript variant 1, mRNA.	205						intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTTTCTTTTTCTTTTTTTTGG	0.532												
OR6K2	81448	broad.mit.edu	37	1	158669503	158669503	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:158669502_158669502GA>G	uc001fsu.1	-	0	941	c.941_941TC>C	c.(940-942)tccfs	p.S314fs		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGGTCTTACGGAAAAAAATAT	0.373												
GPR161	23432	broad.mit.edu	37	1	168054869	168054869	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:168054868_168054868GC>G	uc010pln.2	-	6	2085	c.1551_1551GC>C	c.(1549-1551)ggcfs	p.G517fs	GPR161_uc001gfb.3_Frame_Shift_Del_p.G365fs|GPR161_uc001gfc.3_Frame_Shift_Del_p.G497fs|GPR161_uc010pll.2_Frame_Shift_Del_p.G407fs|GPR161_uc010plm.2_Frame_Shift_Del_p.G383fs|GPR161_uc009wvo.3_Frame_Shift_Del_p.G514fs|GPR161_uc001gfd.3_Frame_Shift_Del_p.G497fs	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	497					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCCCGAAGCCGCCCCCCGGGA	0.582												
FAM163A	148753	broad.mit.edu	37	1	179783166	179783166	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:179783165_179783165TG>T	uc009wxj.3	+	5	804	c.345_345TG>T	c.(343-345)aatfs	p.N115fs	FAM163A_uc001gnj.3_Frame_Shift_Del_p.N115fs|FAM163A_uc009wxk.3_Frame_Shift_Del_p.N115fs	NM_173509	NP_775780	Q96GL9	F163A_HUMAN	Homo sapiens family with sequence similarity 163, member A (FAM163A), mRNA.	115						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						TGGTGCCCAATGGGGGTGGAG	0.622												
GLT25D2	23127	broad.mit.edu	37	1	183944249	183944249	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:183944248_183944248AT>A	uc001gqr.3	-	2	847	c.475_475AT>T	c.(475-477)tggfs	p.W159fs	GLT25D2_uc010poj.1_Frame_Shift_Del_p.W159fs|GLT25D2_uc001gqs.3_Frame_Shift_Del_p.W39fs	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 2 (GLT25D2), mRNA.	159					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|skin(2)	31						TAGTCTGACCATTTTTCCCTC	0.458												
CFH	3075	broad.mit.edu	37	1	196887419	196887419	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:196887418_196887418CA>C	uc001gtp.3	+	9	1756	c.1619_1619CA>C	c.(1618-1620)gcafs	p.A540fs	CFH_uc021pgt.1_Frame_Shift_Del_p.A163fs|CFH_uc009wyy.3_Frame_Shift_Del_p.A539fs|CFH_uc001gto.3_Frame_Shift_Del_p.A293fs	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	892	Sushi 9.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AAATATTATGCAAAAACAGGG	0.303												
DENND1B	163486	broad.mit.edu	37	1	197510138	197510138	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:197510137_197510137AT>A	uc021pgu.1	-	18	1697	c.1359_1359AT>T	c.(1357-1359)aatfs	p.N453fs	DENND1B_uc010ppf.2_Non-coding_Transcript	NM_001195215	NP_001182144	Q6P3S1	DEN1B_HUMAN	Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA.	0						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						GCTTTGCATGATTTTTTGCCT	0.308												
PRELP	5549	broad.mit.edu	37	1	203452549	203452549	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:203452548_203452548GC>G	uc001gzs.3	+	1	436	c.236_236GC>G	c.(235-237)tgcfs	p.C79fs	PRELP_uc001gzt.3_Frame_Shift_Del_p.C79fs	NM_002725	NP_958505	P51888	PRELP_HUMAN	Homo sapiens proline/arginine-rich end leucine-rich repeat protein (PRELP), transcript variant 1, mRNA.	79	Cys-rich.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GAATGCTACTGCCCCCCTGAT	0.582												
ZC3H11A	9877	broad.mit.edu	37	1	203816504	203816505	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:203816503_203816504G>GA	uc001hac.3	+	14	1850_1851	c.1234_1235G>GA	c.(1234-1236)gaafs	p.E412fs	ZC3H11A_uc001had.3_Frame_Shift_Ins_p.E412fs|ZC3H11A_uc001hae.3_Frame_Shift_Ins_p.E412fs|ZC3H11A_uc001haf.3_Frame_Shift_Ins_p.E412fs|ZC3H11A_uc010pqm.2_Frame_Shift_Ins_p.E358fs|ZC3H11A_uc001hag.1_Frame_Shift_Ins_p.E412fs	NM_014827	NP_055642	O75152	ZC11A_HUMAN	Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA.	412				E -> K (in Ref. 3; CAH10525).			nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGTCCTGGCTGAAAAAAAACAT	0.386												
SLC30A1	7779	broad.mit.edu	37	1	211749384	211749384	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:211749383_211749383AG>A	uc001hio.1	-	1	1016	c.871_871CT>T	c.(871-873)tgcfs	p.C291fs		NM_021194	NP_067017	Q9Y6M5	ZNT1_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 1 (SLC30A1), mRNA.	291					cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	T-tubule|integral to membrane	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		AATGCTTTGCAGGGGTCAGGG	0.383												
DISC1	27185	broad.mit.edu	37	1	231954130	231954131	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:231954129_231954130CAG>C	uc010pxh.2	+	9	1996_1997	c.1943_1944CAG>C	c.(1942-1944)tcafs	p.S648fs	DISC1_uc010pwj.1_Frame_Shift_Del_p.S605fs|DISC1_uc010pwk.1_3'UTR|DISC1_uc010pwg.1_Frame_Shift_Del_p.S605fs|DISC1_uc010pwh.1_Frame_Shift_Del_p.S571fs|DISC1_uc010pwi.1_Frame_Shift_Del_p.S571fs|DISC1_uc010pwl.2_Non-coding_Transcript|DISC1_uc010pwr.1_Frame_Shift_Del_p.S616fs|DISC1_uc010pws.1_3'UTR|DISC1_uc010pwt.1_3'UTR|DISC1_uc010pwu.1_3'UTR|DISC1_uc010pwv.2_Non-coding_Transcript|DISC1_uc010pwx.2_Non-coding_Transcript|DISC1_uc010pww.2_Frame_Shift_Del_p.S616fs|DISC1_uc001huy.3_Frame_Shift_Del_p.S616fs|DISC1_uc010pwy.2_Non-coding_Transcript|DISC1_uc010pwz.2_Non-coding_Transcript|DISC1_uc010pxa.2_Non-coding_Transcript|DISC1_uc010pxb.1_Frame_Shift_Del_p.S616fs|DISC1_uc010pxc.1_Intron|DISC1_uc010pxe.2_Frame_Shift_Del_p.S616fs|DISC1_uc010pxf.2_Frame_Shift_Del_p.S616fs|DISC1_uc010pxg.2_Intron|DISC1_uc010pxd.2_Frame_Shift_Del_p.S261fs|DISC1_uc009xfr.3_Frame_Shift_Del_p.S571fs|DISC1_uc010pxn.1_Frame_Shift_Del_p.S261fs|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_Frame_Shift_Del_p.S261fs|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.2_Frame_Shift_Del_p.S494fs|DISC1_uc001huz.3_Frame_Shift_Del_p.S616fs|DISC1_uc001hva.3_Frame_Shift_Del_p.S616fs|DISC2_uc001hvd.3_Non-coding_Transcript	NM_001164537	NP_001158009	Q9NRI5	DISC1_HUMAN	Homo sapiens disrupted in schizophrenia 1 (DISC1), transcript variant a, mRNA.	616	Interaction with ATF4 and ATF5.|Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				Wnt receptor signaling pathway|microtubule cytoskeleton organization|neuron migration|positive regulation of Wnt receptor signaling pathway|positive regulation of neuroblast proliferation	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				TCATTAACATCAGAGAGAGAAG	0.460												
TARBP1	6894	broad.mit.edu	37	1	234565327	234565327	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:234565326_234565326AT>A	uc001hwd.3	-	15	2707	c.2707_2707AT>T	c.(2707-2709)tatfs	p.Y903fs		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	903					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AGGGTGTGATATTTTTTCAAC	0.433												
CNST	163882	broad.mit.edu	37	1	246755180	246755180	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr1:246755179_246755179CA>C	uc001ibp.3	+	1	693	c.315_315CA>C	c.(313-315)gacfs	p.D105fs	CNST_uc001ibo.4_Frame_Shift_Del_p.D105fs	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA.	105					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TGGGAAAGGACAAAAAAATTC	0.413												
GTF3C2	2976	broad.mit.edu	37	2	27559092	27559093	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:27559091_27559092G>GC	uc002rju.1	-	7	1758_1759	c.1361_1362C>GC	c.(1360-1362)ggcfs	p.G454fs	GTF3C2_uc010eyy.1_5'Flank|GTF3C2_uc002rjv.1_Frame_Shift_Ins_p.G443fs|GTF3C2_uc002rjw.1_Frame_Shift_Ins_p.G443fs|GTF3C2_uc010eyz.2_Frame_Shift_Ins_p.G443fs|LOC100505624_uc002rjy.2_Intron	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 2, beta 110kDa (GTF3C2), transcript variant 1, mRNA.	443						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGTCCCAAGGCCCCAGAGCTG	0.594												
BIRC6	57448	broad.mit.edu	37	2	32768566	32768568	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:32768565_32768567CCTT>C	uc010ezu.3	+	61	12683_12685	c.12549_12551CCTT>C	c.(12547-12552)tgcctt>tgCt	p.L4185del		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	4185					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATGCCCAGTGCCTTCTTCGATTG	0.419												
THADA	63892	broad.mit.edu	37	2	43799004	43799004	+	Splice_Site	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:43799003_43799003TA>T	uc002rsw.4	-	13	2261	c.1909_splice	c.e13-1	p.V637_splice	THADA_uc010far.3_5'Flank|THADA_uc002rsx.4_Splice_Site_p.V637_splice|THADA_uc002rsy.4_Splice_Site|THADA_uc010fas.1_Splice_Site|THADA_uc002rsz.3_Splice_Site_p.V347_splice|THADA_uc010fat.1_5'Flank|THADA_uc002rta.2_Splice_Site_p.V347_splice|THADA_uc002rtb.1_Splice_Site_p.V637_splice|THADA_uc002rtc.4_Splice_Site_p.V637_splice|THADA_uc002rtd.3_Splice_Site_p.V637_splice	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	637							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TATCCTTACCTAAAAAACATC	0.318												
CCDC88A	55704	broad.mit.edu	37	2	55544436	55544436	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:55544435_55544435AT>A	uc002ryv.2	-	20	4492	c.3650_3650AT>T	c.(3649-3651)atgfs	p.M1217fs	CCDC88A_uc010ypa.1_Frame_Shift_Del_p.M1217fs|CCDC88A_uc010yoz.1_Frame_Shift_Del_p.M1218fs|CCDC88A_uc002ryu.2_Frame_Shift_Del_p.M500fs|CCDC88A_uc002rys.3_Frame_Shift_Del_p.M203fs|CCDC88A_uc002ryw.3_Frame_Shift_Del_p.M501fs|CCDC88A_uc010fby.1_Frame_Shift_Del_p.M97fs	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	1218					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	p.E1216G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TACTTTGAGCATTTTTTCCAA	0.299												
KIAA1841	84542	broad.mit.edu	37	2	61304296	61304296	+	Splice_Site	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:61304295_61304295TA>T	uc002saw.4	+	6	973	c.670_splice	c.e6+2	p.E224_splice	KIAA1841_uc002sax.4_Splice_Site_p.E78_splice|KIAA1841_uc002say.3_Splice_Site_p.E224_splice|KIAA1841_uc002sav.4_Splice_Site_p.E224_splice	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Homo sapiens KIAA1841 (KIAA1841), transcript variant 1, mRNA.	224										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			CCACTTTAGGTAAAAAACAAT	0.358												
EHBP1	23301	broad.mit.edu	37	2	62991424	62991424	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:62991423_62991423TA>T	uc002sby.3	+	3	667	c.185_185TA>T	c.(184-186)atafs	p.I62fs	EHBP1_uc010fcp.3_Frame_Shift_Del_p.I62fs|EHBP1_uc010fcq.1_Frame_Shift_Del_p.I62fs|EHBP1_uc002sbx.2_Frame_Shift_Del_p.I62fs|EHBP1_uc002sbz.3_Frame_Shift_Del_p.I62fs|EHBP1_uc002scb.3_Frame_Shift_Del_p.I62fs|EHBP1_uc002sca.3_Frame_Shift_Del_p.I62fs	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	62						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			CAACCTGGAATAAAAAATCCC	0.343												
PPP3R1	5534	broad.mit.edu	37	2	68408114	68408114	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:68408113_68408113CT>C	uc002sei.1	-	5	887	c.495_495AG>G	c.(493-495)aagfs	p.K165fs		NM_000945	NP_000936	P63098	CANB1_HUMAN	Homo sapiens protein phosphatase 3, regulatory subunit B, alpha (PPP3R1), mRNA.	165					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	calcineurin complex|cytosol	calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding			large_intestine(1)	1					Pimecrolimus(DB00337)	CTACCACCATCTTTTTGTGGA	0.448												
C2orf42	54980	broad.mit.edu	37	2	70406777	70406777	+	Splice_Site	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:70406776_70406776TA>T	uc002sgh.3	-	4	1152	c.824_splice	c.e4-1	p.G275_splice		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	275										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CTTTAAGACCTAAAAAAAAGA	0.353												
ZNF638	27332	broad.mit.edu	37	2	71649954	71649954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:71649953_71649953GA>G	uc002shx.3	+	21	3632	c.3309_3309GA>G	c.(3307-3309)ttgfs	p.L1103fs	ZNF638_uc010yqw.1_Frame_Shift_Del_p.L682fs|ZNF638_uc002shz.3_Frame_Shift_Del_p.L1103fs|ZNF638_uc002shy.3_Frame_Shift_Del_p.L1103fs|ZNF638_uc002sia.3_Frame_Shift_Del_p.L1103fs|ZNF638_uc002sib.1_Intron|ZNF638_uc002sic.3_Frame_Shift_Del_p.L200fs|ZNF638_uc002sid.3_Intron	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	1103	Glu-rich.				RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GCCCTGGCTTGAAAAACAGTC	0.333												
ALMS1	7840	broad.mit.edu	37	2	73651726	73651726	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:73651725_73651725CT>C	uc002sje.1	+	4	1043	c.932_932CT>C	c.(931-933)cctfs	p.P311fs	ALMS1_uc002sjf.1_Frame_Shift_Del_p.P269fs	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	311					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCTCAGTGCCCTTTTTTACCT	0.433												
SLC4A5	57835	broad.mit.edu	37	2	74451994	74451994	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:74451993_74451993CT>C	uc002sko.1	-	23	3270	c.3268_3268AG>G	c.(3268-3270)gggfs	p.G1090fs	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Frame_Shift_Del_p.G1074fs|SLC4A5_uc010ffc.1_Frame_Shift_Del_p.G993fs|SLC4A5_uc002skp.1_Frame_Shift_Del_p.G972fs|SLC4A5_uc002sks.1_Frame_Shift_Del_p.K981fs	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	1090						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TCGTGGGCCCCTTTTTTTCTC	0.517												
STARD7	56910	broad.mit.edu	37	2	96859067	96859067	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:96859066_96859066AT>A	uc002svm.4	-	3	975	c.574_574AT>T	c.(574-576)tggfs	p.W192fs	STARD7_uc002svl.3_5'UTR	NM_020151	NP_064536	Q9NQZ5	STAR7_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 7 (STARD7), mRNA.	192	START.					mitochondrion				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						AGGGCATCCCATTTTTTTCTA	0.433												
MITD1	129531	broad.mit.edu	37	2	99785865	99785865	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:99785864_99785864GA>G	uc002szs.1	-	6	772	c.724_724TC>C	c.(724-726)catfs	p.H242fs	MRPL30_uc002szl.1_Intron|MRPL30_uc002szr.3_Intron	NM_138798	NP_620153	Q8WV92	MITD1_HUMAN	Homo sapiens MIT, microtubule interacting and transport, domain containing 1 (MITD1), mRNA.	242					protein transport	late endosome membrane				large_intestine(3)|lung(2)|ovary(1)	6						TGCTTCTTATGAAAAATGTCT	0.274												
GCC2	9648	broad.mit.edu	37	2	109087884	109087884	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	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												
UGGT1	56886	broad.mit.edu	37	2	128867265	128867267	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:128867264_128867266AAAG>A	uc002tps.3	+	4	643_645	c.465_467AAAG>A	c.(463-468)ggaaag>ggAg	p.K157del	UGGT1_uc010fme.1_In_Frame_Del_p.K32del|UGGT1_uc002tpr.3_In_Frame_Del_p.K133del	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	157					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CAGTGCATGGAAAGAAGACTTGT	0.379												
UBXN4	23190	broad.mit.edu	37	2	136540365	136540365	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:136540364_136540364TA>T	uc002tur.3	+	12	1745	c.1434_1434TA>T	c.(1432-1434)tttfs	p.F478fs	UBXN4_uc002tus.3_Frame_Shift_Del_p.F244fs|UBXN4_uc002tut.3_Frame_Shift_Del_p.F114fs	NM_014607	NP_055422	Q92575	UBXN4_HUMAN	Homo sapiens UBX domain protein 4 (UBXN4), mRNA.	478					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	p.D477E(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						GAGACGACTTTAAAAAGGAGG	0.378												
LCT	3938	broad.mit.edu	37	2	136547334	136547335	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:136547333_136547334CTG>C	uc002tuu.1	-	15	5381_5382	c.5370_5371CAG>G	c.(5368-5373)acagttfs	p.T1790fs		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1790	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCACTCCAAACTGTGTATCCTC	0.500												
IFIH1	64135	broad.mit.edu	37	2	163134716	163134717	+	Splice_Site	INS	-	-	T	rs150760072		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:163134715_163134716C>CT	uc002uce.3	-	9	1987	c.1765_splice	c.e9+1	p.A589_splice		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	589					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CCTAAATTACCTTTTTTTTCCA	0.327												
FIGN	55137	broad.mit.edu	37	2	164468132	164468133	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:164468131_164468132A>AT	uc002uck.1	-	2	521_522	c.210_211T>AT	c.(208-213)aaatatfs	p.K70fs		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	Homo sapiens fidgetin (FIGN), mRNA.	70						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TTCTCTGCATATTTTTTTAGTA	0.480												
DHRS9	10170	broad.mit.edu	37	2	169952169	169952169	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:169952168_169952168GA>G	uc010zdc.2	+	4	1143	c.1031_1031GA>G	c.(1030-1032)ggafs	p.G344fs	DHRS9_uc002uep.3_Frame_Shift_Del_p.G284fs|DHRS9_uc002ueq.3_Frame_Shift_Del_p.G284fs|DHRS9_uc010zdd.2_Frame_Shift_Del_p.G284fs|DHRS9_uc010zde.2_Frame_Shift_Del_p.G284fs	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA.	284					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TATGCCGCTGGAAAAGATGCC	0.448												
PDK1	5163	broad.mit.edu	37	2	173435501	173435501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:173435500_173435500AC>A	uc002uhs.3	+	7	993	c.893_893AC>A	c.(892-894)tacfs	p.Y298fs	PDK1_uc010zdz.1_Frame_Shift_Del_p.Y143fs|PDK1_uc010zea.1_Non-coding_Transcript|PDK1_uc002uhq.1_Frame_Shift_Del_p.Y318fs|PDK1_uc010zeb.2_Frame_Shift_Del_p.Y318fs	NM_002610	NP_002601	Q15118	PDK1_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 1 (PDK1), nuclear gene encoding mitochondrial protein, mRNA.	298	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	p.Y298Y(1)		central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			AGAGGTGTTTACCCCCCTATT	0.348									Autosomal Dominant Polycystic Kidney Disease			
GPR155	151556	broad.mit.edu	37	2	175346265	175346265	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:175346264_175346264CA>C	uc002uit.3	-	2	812	c.421_421TG>G	c.(421-423)gctfs	p.A141fs	GPR155_uc002uiu.3_Frame_Shift_Del_p.A141fs|GPR155_uc002uiv.3_Frame_Shift_Del_p.A141fs|GPR155_uc010fqs.3_Frame_Shift_Del_p.A141fs	NM_001033045	NP_689742	Q7Z3F1	GP155_HUMAN	Homo sapiens G protein-coupled receptor 155 (GPR155), transcript variant 9, mRNA.	141					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CTTTGTGTAGCAAAAATAGGG	0.299												
HOXD8	3234	broad.mit.edu	37	2	176995458	176995458	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:176995457_176995457TC>T	uc002uko.3	+	0	990	c.363_363TC>T	c.(361-363)cctfs	p.P121fs	AX747372_uc002ukl.1_5'Flank|AX747372_uc002ukm.1_5'Flank|HOXD8_uc002ukn.3_Intron|HOXD8_uc002ukp.3_Frame_Shift_Del_p.P121fs	NM_019558	NP_062458	P13378	HXD8_HUMAN	Homo sapiens homeobox D8 (HOXD8), transcript variant 1, mRNA.	121	Poly-Pro.				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		cgccgccacctcccccCTGCG	0.692												
CCDC141	285025	broad.mit.edu	37	2	179720989	179720989	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:179720988_179720988AT>A	uc002une.2	-	17	2979	c.2861_2861AT>T	c.(2860-2862)atgfs	p.M954fs	CCDC141_uc002unf.1_Frame_Shift_Del_p.M433fs	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	379							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGTTACCTGCATTTTTTCAGC	0.294												
HECW2	57520	broad.mit.edu	37	2	197171263	197171263	+	Frame_Shift_Del	DEL	G	G	-	rs144884935	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:197171262_197171262CG>C	uc002utm.1	-	12	2947	c.2764_2764CG>G	c.(2764-2766)gtgfs	p.V922fs	HECW2_uc002utl.1_Frame_Shift_Del_p.V566fs	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	922	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGGAACTTCACGGGGGGAGAC	0.532												
CLK1	1195	broad.mit.edu	37	2	201722550	201722550	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:201722549_201722549CA>C	uc002uwe.2	-	6	905	c.724_724TG>G	c.(724-726)gaafs	p.E242fs	CLK1_uc010zhi.1_Frame_Shift_Del_p.E284fs|CLK1_uc002uwf.2_Frame_Shift_Del_p.E16fs|CLK1_uc002uwg.2_Frame_Shift_Del_p.E91fs	NM_004071	NP_004062	P49759	CLK1_HUMAN	Homo sapiens CDC-like kinase 1 (CLK1), transcript variant 1, mRNA.	242	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CCCAATAGTTCAAAAACAATG	0.368												
ALS2CR11	151254	broad.mit.edu	37	2	202352566	202352566	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:202352565_202352565CT>C	uc002uyf.3	-	15	5285	c.5233_5233AG>G	c.(5233-5235)gtafs	p.V1745fs	ALS2CR11_uc002uye.3_Frame_Shift_Del_p.V548fs|ALS2CR11_uc010fti.3_3'UTR	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	548								p.V548L(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CTTGATTTTACTTTTTTAAGG	0.338												
ALS2	57679	broad.mit.edu	37	2	202591522	202591522	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:202591521_202591521AG>A	uc002uyo.3	-	17	3404	c.3048_3048CT>T	c.(3046-3048)cctfs	p.P1016fs	ALS2_uc002uyp.4_Frame_Shift_Del_p.P1016fs|ALS2_uc010ftl.3_Non-coding_Transcript	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	1016					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CACTTCCATAAGGGGGGAGAT	0.463												
MAP2	4133	broad.mit.edu	37	2	210545528	210545529	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:210545527_210545528G>GA	uc002vde.1	+	5	678_679	c.430_431G>GA	c.(430-432)gaafs	p.E144fs	MAP2_uc002vdc.1_Frame_Shift_Ins_p.E144fs|MAP2_uc002vdd.1_Frame_Shift_Ins_p.E144fs|MAP2_uc002vdf.1_Frame_Shift_Ins_p.E144fs|MAP2_uc002vdg.1_Frame_Shift_Ins_p.E144fs|MAP2_uc002vdh.1_Frame_Shift_Ins_p.E144fs|MAP2_uc002vdi.1_Frame_Shift_Ins_p.E144fs	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	144					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ACCTGCCTCAGAACAGACTGTC	0.406												
MAP2	4133	broad.mit.edu	37	2	210561667	210561668	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:210561666_210561667T>TA	uc002vde.1	+	8	4661_4662	c.4413_4414T>TA	c.(4411-4416)gctaaafs	p.A1471fs	MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Frame_Shift_Ins_p.A1467fs	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	1471					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.T1474fs*14(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CTGAACTTGCTAAAAAAACAGA	0.366												
ZFAND2B	130617	broad.mit.edu	37	2	220073005	220073006	+	Frame_Shift_Del	DEL	TG	TG	-	rs143749451		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:220073004_220073005CTG>C	uc002vka.3	+	4	633_634	c.461_462CTG>C	c.(460-462)gctfs	p.A154fs	ZFAND2B_uc010zkt.2_Frame_Shift_Del_p.A154fs|ZFAND2B_uc010fwd.1_Frame_Shift_Del_p.A154fs|ZFAND2B_uc002vjz.1_Frame_Shift_Del_p.A154fs|ZFAND2B_uc002vkb.1_Frame_Shift_Del_p.A45fs	NM_138802	NP_620157	Q8WV99	ZFN2B_HUMAN	Homo sapiens zinc finger, AN1-type domain 2B (ZFAND2B), mRNA.	154						endoplasmic reticulum	protein binding|zinc ion binding			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGCACAAGCTGTGGCTTCTA	0.550												
DOCK10	55619	broad.mit.edu	37	2	225706574	225706574	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:225706573_225706573CT>C	uc010fwz.1	-	22	2848	c.2609_2609AG>G	c.(2608-2610)agafs	p.R870fs	DOCK10_uc002vob.2_Frame_Shift_Del_p.R864fs	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	870	DHR-1.						GTP binding	p.E869K(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		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)		ATCTTTCTCTCTTTTTTGGCA	0.378												
TRIP12	9320	broad.mit.edu	37	2	230668408	230668408	+	Splice_Site	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:230668407_230668407TA>T	uc002vpx.1	-	20	2908	c.2799_splice	c.e20-1	p.S933_splice	TRIP12_uc021vxw.1_Splice_Site_p.S918_splice|TRIP12_uc002vpy.1_Splice_Site_p.S615_splice|TRIP12_uc002vpw.1_Splice_Site_p.S885_splice|TRIP12_uc010zlz.1_Intron	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	885					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GCAATGTGACTAAAAAAAGAA	0.343												
GIGYF2	26058	broad.mit.edu	37	2	233677140	233677141	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:233677139_233677140CTG>C	uc002vtj.4	+	19	2375_2376	c.2108_2109CTG>C	c.(2107-2109)tctfs	p.S703fs	GIGYF2_uc010zmj.1_Frame_Shift_Del_p.S682fs|GIGYF2_uc002vtg.2_Frame_Shift_Del_p.S676fs|GIGYF2_uc002vti.4_Frame_Shift_Del_p.S682fs|GIGYF2_uc002vtk.4_Frame_Shift_Del_p.S682fs|GIGYF2_uc002vth.4_Frame_Shift_Del_p.S676fs|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Frame_Shift_Del_p.S513fs|GIGYF2_uc002vtq.4_Frame_Shift_Del_p.S15fs	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	682	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GTAACTAGGTCTGTGTCCGTGC	0.386												
INPP5D	3635	broad.mit.edu	37	2	234072474	234072474	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:234072473_234072473AC>A	uc010zmo.2	+	10	1427	c.1274_1274AC>A	c.(1273-1275)gacfs	p.D425fs	INPP5D_uc010zmp.2_Frame_Shift_Del_p.D424fs	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	454					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		ACCCAAGAGGACCCCCTGAGT	0.552												
DGKD	8527	broad.mit.edu	37	2	234299106	234299106	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:234299105_234299105CA>C	uc002vui.1	+	2	336	c.324_324CA>C	c.(322-324)accfs	p.T108fs	DGKD_uc002vuj.1_Frame_Shift_Del_p.T64fs	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	108	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	p.S107S(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AATCCAGTACCAAAAACGTCA	0.413												
PASK	23178	broad.mit.edu	37	2	242046054	242046054	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr2:242046053_242046053GC>G	uc002wao.2	-	17	4033	c.3900_3900GC>C	c.(3898-3900)ggcfs	p.G1300fs	PASK_uc010zol.2_Frame_Shift_Del_p.G1114fs|PASK_uc010zom.2_Frame_Shift_Del_p.G1265fs|PASK_uc010fzl.2_Frame_Shift_Del_p.G1307fs|PASK_uc010zon.2_Frame_Shift_Del_p.G1081fs|PASK_uc021vzf.1_Frame_Shift_Del_p.G1300fs	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	1300					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		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)		CTGGAACGGGGCCCCCACAAA	0.572												
FANCD2	2177	broad.mit.edu	37	3	10119789	10119789	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:10119788_10119788GC>G	uc003buw.3	+	29	2961	c.2883_2883GC>G	c.(2881-2883)gggfs	p.G961fs	FANCD2_uc003bux.1_Frame_Shift_Del_p.G961fs|FANCD2_uc003buy.1_Frame_Shift_Del_p.G961fs|FANCD2_uc010hcw.1_Non-coding_Transcript	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	961					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGCAACTTGGGCCCCCTGAGC	0.448			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia			
METTL6	131965	broad.mit.edu	37	3	15455535	15455535	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:15455534_15455534TA>T	uc003bzs.1	-	4	925	c.667_667TA>A	c.(667-669)actfs	p.T223fs	METTL6_uc011avp.1_Frame_Shift_Del_p.T178fs	NM_152396	NP_689609	Q8TCB7	METL6_HUMAN	Homo sapiens methyltransferase like 6 (METTL6), mRNA.	223							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						TTACCATCAGTAAAAAAATAT	0.368												
LIMD1	8994	broad.mit.edu	37	3	45637325	45637325	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:45637324_45637324TG>T	uc003coq.3	+	0	1002	c.953_953TG>T	c.(952-954)ctgfs	p.L318fs		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	Homo sapiens LIM domains containing 1 (LIMD1), mRNA.	318					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|nucleus	protein binding|zinc ion binding	p.G317G(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		AACTCGGGGCTGGGGGGTGAG	0.602												
RBM6	10180	broad.mit.edu	37	3	50098576	50098576	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:50098575_50098575TA>T	uc003cyc.3	+	12	2522	c.2274_2274TA>T	c.(2272-2274)ggtfs	p.G758fs	RBM6_uc010hlc.2_Frame_Shift_Del_p.G277fs|RBM6_uc003cyd.3_Frame_Shift_Del_p.G236fs|RBM6_uc011bdi.2_Frame_Shift_Del_p.G100fs|RBM6_uc003cye.3_Frame_Shift_Del_p.G236fs|RBM6_uc010hlf.2_Non-coding_Transcript|RBM6_uc010hld.2_Non-coding_Transcript|RBM6_uc010hle.2_Non-coding_Transcript	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	758					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TGTGATAGGGTAAAAAATATT	0.373												
MAPKAPK3	7867	broad.mit.edu	37	3	50684208	50684209	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:50684207_50684208CCA>C	uc003day.2	+	10	1508_1509	c.866_867CCA>C	c.(865-867)cccfs	p.P289fs	MAPKAPK3_uc003daz.2_Frame_Shift_Del_p.P289fs|MAPKAPK3_uc003dba.2_Frame_Shift_Del_p.P289fs|MAPKAPK3_uc010hlr.2_Frame_Shift_Del_p.P289fs	NM_001243926	NP_001230855	Q16644	MAPK3_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 3 (MAPKAPK3), transcript variant 1, mRNA.	289	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		AAGACAGACCCCACAGAGAGGC	0.619												
CACNA1D	776	broad.mit.edu	37	3	53529215	53529216	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:53529214_53529215G>GA	uc003dgv.4	+	0	184_185	c.21_22G>GA	c.(19-24)atgaaafs	p.M7fs	CACNA1D_uc003dgu.4_Frame_Shift_Ins_p.M7fs|CACNA1D_uc003dgy.4_Frame_Shift_Ins_p.M7fs	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	7	Poly-Met.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				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)	tgatgatgatgaAAAAAATGCA	0.574												
CACNA1D	776	broad.mit.edu	37	3	53766932	53766932	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:53766931_53766931GA>G	uc003dgv.4	+	18	2726	c.2563_2563GA>G	c.(2563-2565)gaafs	p.E855fs	CACNA1D_uc003dgu.4_Frame_Shift_Del_p.E875fs|CACNA1D_uc003dgy.4_Frame_Shift_Del_p.E855fs|CACNA1D_uc003dgw.4_Frame_Shift_Del_p.E522fs|CACNA1D_uc003dgx.1_Frame_Shift_Del_p.E3fs	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	855					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				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)	GAACATGAAGGAAAAAATTGC	0.512												
ALCAM	214	broad.mit.edu	37	3	105250904	105250904	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:105250903_105250903TA>T	uc003dvx.3	+	3	1148	c.452_452TA>T	c.(451-453)ctafs	p.L151fs	ALCAM_uc003dvw.2_Frame_Shift_Del_p.L151fs|ALCAM_uc003dvy.3_Frame_Shift_Del_p.L151fs|ALCAM_uc011bhh.1_Frame_Shift_Del_p.L100fs|ALCAM_uc010hpp.3_5'Flank	NM_001627	NP_001618	Q13740	CD166_HUMAN	Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.	151	Ig-like V-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.L151L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ACAGAGCAGCTAAAAAAGGTA	0.338												
POLQ	10721	broad.mit.edu	37	3	121238922	121238925	+	Frame_Shift_Del	DEL	AAGT	AAGT	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:121238921_121238924AAAGT>A	uc003eee.4	-	8	1391_1394	c.1262_1265ACTTT>T	c.(1261-1266)acttttfs	p.T421fs		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	421	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCTCTCCTCAAAAGTAAGACCTAA	0.382								DNA polymerases (catalytic subunits)				
MYLK	4638	broad.mit.edu	37	3	123368044	123368045	+	Splice_Site	INS	-	-	G	rs138786404		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:123368043_123368044T>TG	uc003ego.3	-	25	4571	c.4289_splice	c.e25-1	p.E1430_splice	MYLK_uc010hrr.3_Splice_Site|MYLK_uc011bjv.2_Splice_Site_p.E230_splice|MYLK_uc011bjw.2_Splice_Site_p.E1430_splice|MYLK_uc003egp.3_Splice_Site_p.E1361_splice|MYLK_uc003egq.3_Splice_Site_p.E1430_splice|MYLK_uc003egr.3_Splice_Site_p.E1361_splice|MYLK_uc003egs.3_Splice_Site_p.E1254_splice	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1430	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTTCGGCTCTGGGGGGGGCAC	0.624												
MSL2	55167	broad.mit.edu	37	3	135870314	135870315	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:135870313_135870314ATT>A	uc003eqx.1	-	1	2142_2143	c.1409_1410AAT>T	c.(1408-1410)aatfs	p.N470fs	MSL2_uc011bmb.1_Frame_Shift_Del_p.N396fs|MSL2_uc021xel.1_Frame_Shift_Del_p.N396fs	NM_018133	NP_001138889	Q9HCI7	MSL2_HUMAN	Homo sapiens male-specific lethal 2 homolog (Drosophila) (MSL2), transcript variant 1, mRNA.	470					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						GAACACTTGGATTTTGAGTAGC	0.455												
IL20RB	53833	broad.mit.edu	37	3	136710804	136710805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:136710803_136710804T>TG	uc003eri.2	+	4	804_805	c.555_556T>TG	c.(553-558)agtgggfs	p.S185fs	IL20RB_uc003erj.2_Intron|IL20RB_uc010hud.2_Frame_Shift_Ins_p.S43fs	NM_144717	NP_653318	Q6UXL0	I20RB_HUMAN	Homo sapiens interleukin 20 receptor beta (IL20RB), mRNA.	185	Fibronectin type-III 2.					integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						TGGTGAGGAGTGGGGGTATTCC	0.535												
XRN1	54464	broad.mit.edu	37	3	142030643	142030644	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:142030642_142030643C>CT	uc003eus.3	-	41	4898_4899	c.4831_4832G>AG	c.(4831-4833)aggfs	p.R1611fs	XRN1_uc010huu.3_Frame_Shift_Ins_p.R1065fs|XRN1_uc003eut.3_Frame_Shift_Ins_p.R1598fs|XRN1_uc003euu.3_Frame_Shift_Ins_p.R1599fs	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	1611					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GTTTGCAACCCTTTTTTTAGTA	0.361												
ATR	545	broad.mit.edu	37	3	142261555	142261555	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:142261554_142261554TA>T	uc003eux.4	-	16	3525	c.3403_3403TA>A	c.(3403-3405)aacfs	p.N1135fs		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	1135					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AACTGCATGTTAAAAAAAGCC	0.313								Other conserved DNA damage response genes				
ABCC5	10057	broad.mit.edu	37	3	183677573	183677577	+	Frame_Shift_Del	DEL	CTTGT	CTTGT	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:183677572_183677576CCTTGT>C	uc003fmg.3	-	16	2592_2596	c.2427_2431ACAAGG>G	c.(2425-2433)gacaagggtfs	p.D809fs	ABCC5_uc011bqt.2_Frame_Shift_Del_p.D337fs|ABCC5_uc010hxl.3_Frame_Shift_Del_p.D809fs	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	809						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTTTTAGGACCCTTGTCTTGTGACT	0.337												
MFI2	4241	broad.mit.edu	37	3	196751266	196751266	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr3:196751265_196751265CG>C	uc003fxk.4	-	3	510	c.396_396CG>G	c.(394-396)acgfs	p.T132fs	MFI2_uc003fxl.4_Frame_Shift_Del_p.T132fs|MFI2_uc011bua.2_Frame_Shift_Del_p.T132fs	NM_005929	NP_005920	P08582	TRFM_HUMAN	Homo sapiens antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 (MFI2), transcript variant 1, mRNA.	132	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GATTGATGCCCGTGTGGCAGG	0.617												
FGFBP2	83888	broad.mit.edu	37	4	15964150	15964152	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:15964149_15964151CCTT>C	uc003gon.3	-	0	709_711	c.602_604AAGG>G	c.(601-606)aaggcc>aGcc	p.201_202KA>S	FGFBP2_uc021xmm.1_In_Frame_Del_p.201_202KA>S	NM_031950	NP_114156	Q9BYJ0	FGFP2_HUMAN	Homo sapiens fibroblast growth factor binding protein 2 (FGFBP2), mRNA.	201						extracellular space	growth factor binding			central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						TGTTCCCAGGCCTTCTTCTTTGC	0.562												
SLC10A6	345274	broad.mit.edu	37	4	87769943	87769944	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:87769942_87769943G>GC	uc003hqd.2	-	0	474_475	c.326_327C>GC	c.(325-327)ggcfs	p.G109fs		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA.	109						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TAGAGATGGTGCCCCCCGGGCA	0.505												
HERC5	51191	broad.mit.edu	37	4	89380514	89380515	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:89380513_89380514G>GA	uc003hrt.3	+	1	434_435	c.281_282G>GA	c.(280-282)ggafs	p.G94fs		NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	Homo sapiens hect domain and RLD 5 (HERC5), mRNA.	94					ISG15-protein conjugation|innate immune response|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			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		ATTAAATTAGGAAAAAACATGA	0.351												
ADH1A	124	broad.mit.edu	37	4	100205876	100205876	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:100205875_100205875GT>G	uc003hur.2	-	3	459	c.345_345AC>C	c.(343-345)aacfs	p.N115fs	LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.2_Frame_Shift_Del_p.N115fs	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	115					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	p.N115N(2)		endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	AAACCTACTCGTTTTTCAAGC	0.443												
ALPK1	80216	broad.mit.edu	37	4	113356326	113356326	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:113356325_113356325CA>C	uc003ian.4	+	11	3283	c.3056_3056CA>C	c.(3055-3057)tcafs	p.S1019fs	ALPK1_uc003iap.4_Frame_Shift_Del_p.S1019fs|ALPK1_uc011cfx.2_Frame_Shift_Del_p.S941fs|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_Frame_Shift_Del_p.S847fs	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	1019	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TTAAAATATTCAAAAAAATCT	0.353												
ADAD1	132612	broad.mit.edu	37	4	123342418	123342419	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:123342417_123342418T>TC	uc003ieo.3	+	11	1721_1722	c.1489_1490T>TC	c.(1489-1491)tccfs	p.S497fs	ADAD1_uc003iep.3_Frame_Shift_Ins_p.S486fs|ADAD1_uc003ieq.3_Frame_Shift_Ins_p.S479fs	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	497	A to I editase.				RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCTGCTTAGTTCCCCATTTAAA	0.302												
HSPA4L	22824	broad.mit.edu	37	4	128741625	128741625	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:128741624_128741624TA>T	uc003ifm.3	+	13	1969	c.1716_1716TA>T	c.(1714-1716)cttfs	p.L572fs	HSPA4L_uc010iny.1_Frame_Shift_Del_p.L531fs|HSPA4L_uc011cgr.2_Frame_Shift_Del_p.L539fs	NM_014278	NP_055093	O95757	HS74L_HUMAN	Homo sapiens heat shock 70kDa protein 4-like (HSPA4L), mRNA.	572					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						ATCAGACACTTAAAAAAGGAA	0.343												
SCLT1	132320	broad.mit.edu	37	4	129924995	129924995	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:129924994_129924994AT>A	uc003igp.2	-	5	834	c.328_328AT>T	c.(328-330)ttgfs	p.L110fs	SCLT1_uc003igq.2_Frame_Shift_Del_p.L110fs|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	110						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						AAGGCCTCCAATTTTTTTTCA	0.383												
ABCE1	6059	broad.mit.edu	37	4	146041224	146041224	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:146041223_146041223GA>G	uc003ijx.3	+	10	1502	c.1062_1062GA>G	c.(1060-1062)aagfs	p.K354fs	ABCE1_uc003ijy.3_Frame_Shift_Del_p.K354fs|ABCE1_uc010iot.3_Non-coding_Transcript	NM_001040876	NP_002931	P61221	ABCE1_HUMAN	Homo sapiens ATP-binding cassette, sub-family E (OABP), member 1 (ABCE1), transcript variant 2, mRNA.	354	ABC transporter 2.				RNA catabolic process|interspecies interaction between organisms|response to virus	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					CAGGAATGAAGAAAAAAATGG	0.348												
SH3D19	152503	broad.mit.edu	37	4	152069114	152069114	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:152069113_152069113AG>A	uc010ipl.1	-	10	2293	c.1203_1203CT>T	c.(1201-1203)cctfs	p.P401fs	SH3D19_uc003imb.2_Frame_Shift_Del_p.P179fs|SH3D19_uc003imc.2_Frame_Shift_Del_p.P365fs|SH3D19_uc003ime.2_Frame_Shift_Del_p.P401fs|SH3D19_uc010ipm.2_Frame_Shift_Del_p.P401fs	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	Homo sapiens SH3 domain containing 19 (SH3D19), transcript variant 1, mRNA.	401					cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	Golgi apparatus|cytosol|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GTTTGGGACGAGGGGGTAGCA	0.393												
RAPGEF2	9693	broad.mit.edu	37	4	160253651	160253651	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:160253650_160253650GC>G	uc003iqg.4	+	10	1763	c.1453_1453GC>G	c.(1453-1455)gccfs	p.A485fs		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	485					MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAGAAATGGTGCCCCCCACCT	0.363												
TKTL2	84076	broad.mit.edu	37	4	164394544	164394545	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:164394543_164394544C>CG	uc003iqp.4	-	0	504_505	c.343_344G>CG	c.(343-345)cgafs	p.R115fs		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	115						cytoplasm	metal ion binding|transketolase activity	p.P114H(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AAACGGCAATCGGGGGGTAGGG	0.525												
TRIM60	166655	broad.mit.edu	37	4	165961428	165961428	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:165961427_165961427AC>A	uc003iqy.1	+	2	373	c.203_203AC>A	c.(202-204)aacfs	p.N68fs	TRIM60_uc010iqx.1_Frame_Shift_Del_p.N68fs|TRIM60_uc021xty.1_Frame_Shift_Del_p.N68fs	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	68						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TTCAGGAGGAACCCCCAGCTC	0.463												
SH3RF1	57630	broad.mit.edu	37	4	170057551	170057551	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr4:170057550_170057550AG>A	uc003isa.1	-	4	1322	c.987_987CT>T	c.(985-987)cctfs	p.P329fs	SH3RF1_uc010irc.1_Frame_Shift_Del_p.C52fs	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	329						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TGATGAGGACAGGGGGGCTGA	0.572												
CDH12	1010	broad.mit.edu	37	5	22078600	22078600	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:22078599_22078599CA>C	uc010iuc.2	-	1	645	c.187_187TG>G	c.(187-189)gtgfs	p.V63fs	CDH12_uc011cno.1_Frame_Shift_Del_p.V63fs|CDH12_uc003jgk.2_Frame_Shift_Del_p.V63fs	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	63	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCTTCCAGCACAAAAAATTGA	0.458										HNSCC(59;0.17)		
ITGA2	3673	broad.mit.edu	37	5	52369066	52369067	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:52369065_52369066G>GT	uc003joy.3	+	19	2690_2691	c.2547_2548G>GT	c.(2545-2550)ttgtttfs	p.L849fs	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Frame_Shift_Ins_p.L773fs|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Intron	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	849					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CAGAAAACTTGTTTTTTGCATC	0.381												
MOCS2	4338	broad.mit.edu	37	5	52402940	52402940	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:52402939_52402939TG>T	uc003joz.3	-	2	480	c.66_66CA>A	c.(64-66)ccafs	p.P22fs	MOCS2_uc011cqf.2_Frame_Shift_Del_p.I85fs|LOC257396_uc003jpb.2_5'Flank	NM_004531	NP_004522	O96033	MOC2A_HUMAN	Homo sapiens molybdenum cofactor synthesis 2 (MOCS2), transcript variant 3, mRNA.	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding	p.P21P(1)		endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCTCCACTAATGGGGGGGATA	0.428												
DHX29	54505	broad.mit.edu	37	5	54586096	54586096	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:54586095_54586095GT>G	uc003jpx.3	-	6	978	c.858_858AC>C	c.(856-858)aacfs	p.N286fs	DHX29_uc010ivw.3_Non-coding_Transcript	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA.	286							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GGCCTTGCTTGTTTTTTTCTA	0.328												
BDP1	55814	broad.mit.edu	37	5	70791221	70791221	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:70791220_70791220TA>T	uc003kbp.1	+	11	2047	c.1784_1784TA>T	c.(1783-1785)ctafs	p.L595fs	BDP1_uc003kbn.1_Frame_Shift_Del_p.L595fs|BDP1_uc003kbo.3_Frame_Shift_Del_p.L595fs	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	595					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AATGTTGACCTAAAAAATAAT	0.303												
MAP1B	4131	broad.mit.edu	37	5	71495077	71495078	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:71495076_71495077G>GC	uc003kbw.4	+	4	6135_6136	c.5894_5895G>GC	c.(5893-5895)agcfs	p.S1965fs	MAP1B_uc010iyw.1_Frame_Shift_Ins_p.S1982fs|MAP1B_uc010iyx.1_Frame_Shift_Ins_p.S1839fs|MAP1B_uc010iyy.1_Frame_Shift_Ins_p.S1839fs	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1965						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		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)		AAGACCACCAGCCCCCCCGAAG	0.485												
FBN2	2201	broad.mit.edu	37	5	127637177	127637177	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:127637176_127637176CA>C	uc003kuu.3	-	46	6383	c.5944_5944TG>G	c.(5944-5946)ggtfs	p.G1982fs		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1982	EGF-like 33; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACACCTGACCAAAAAAGGAA	0.363												
PCDHAC2	56134	broad.mit.edu	37	5	140215405	140215405	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:140215404_140215404CG>C	uc003lhq.2	+	0	1436	c.1436_1436CG>C	c.(1435-1437)gcgfs	p.A479fs	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Frame_Shift_Del_p.A479fs	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	493	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGTGTCGGCGGGGGACGCG	0.677												
TCERG1	10915	broad.mit.edu	37	5	145883505	145883506	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:145883504_145883505C>CGA	uc003lob.3	+	17	2705_2706	c.2665_2666C>CGA	c.(2665-2667)cgafs	p.R889fs	TCERG1_uc003loc.3_Frame_Shift_Ins_p.R868fs	NM_006706	NP_006697	O14776	TCRG1_HUMAN	Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA.	889					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAAATAGATCGAGAGAGAGAG	0.416												
SLC6A7	6534	broad.mit.edu	37	5	149581961	149581961	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:149581960_149581960CG>C	uc003lrr.3	+	6	1280	c.909_909CG>C	c.(907-909)ttcfs	p.F303fs		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 (SLC6A7), mRNA.	303						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GTGTGGGCTTCGGGGGGCTCC	0.572												
PWWP2A	114825	broad.mit.edu	37	5	159520656	159520656	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr5:159520655_159520655CT>C	uc011ded.2	-	1	1059	c.1002_1002AG>G	c.(1000-1002)aagfs	p.K334fs	PWWP2A_uc003lxv.4_Frame_Shift_Del_p.K334fs|PWWP2A_uc011dec.2_Frame_Shift_Del_p.K334fs	NM_001130864	NP_001124336	Q96N64	PWP2A_HUMAN	Homo sapiens PWWP domain containing 2A (PWWP2A), transcript variant 2, mRNA.	334										kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTAATTTCCTTTTTTTCAG	0.338												
EDN1	1906	broad.mit.edu	37	6	12294303	12294303	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:12294302_12294302AT>A	uc003nae.4	+	2	696	c.362_362AT>A	c.(361-363)aatfs	p.N121fs	EDN1_uc003nad.3_Frame_Shift_Del_p.N121fs|EDN1_uc003naf.4_Frame_Shift_Del_p.N120fs	NM_001955	NP_001946	P05305	EDN1_HUMAN	Homo sapiens endothelin 1 (EDN1), transcript variant 1, mRNA.	121	Endothelin-like.				artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of JUN kinase activity|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				AAGTGCTGGAATTTTTGCCAA	0.443												
ATXN1	6310	broad.mit.edu	37	6	16307055	16307055	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:16307054_16307054CA>C	uc003nbt.3	-	8	2925	c.1954_1954TG>G	c.(1954-1956)gtgfs	p.V652fs	ATXN1_uc010jpi.3_Frame_Shift_Del_p.V652fs|ATXN1_uc010jpj.1_Non-coding_Transcript	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	652	AXH.|Interaction with USP7.|RNA-binding.				RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TGTCCAAACACAAAAAAAGGA	0.468												
ATXN1	6310	broad.mit.edu	37	6	16328093	16328093	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:16328092_16328092TG>T	uc003nbt.3	-	7	1421	c.450_450CA>A	c.(448-450)ccafs	p.P150fs	ATXN1_uc010jpi.3_Frame_Shift_Del_p.P150fs|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	150					RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GGTTGGCGGTTGGGGGGATCA	0.627												
COL11A2	1302	broad.mit.edu	37	6	33133481	33133481	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:33133480_33133480TC>T	uc003ocx.1	-	62	4824	c.4596_4596GA>A	c.(4594-4596)ggafs	p.G1532fs	COL11A2_uc010jul.1_Frame_Shift_Del_p.G102fs|COL11A2_uc003ocy.1_Frame_Shift_Del_p.G1446fs|COL11A2_uc003ocz.1_Frame_Shift_Del_p.G1425fs	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1532					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			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TGCCGGGGGCTCCCCCGGTCG	0.637												
ITPR3	3710	broad.mit.edu	37	6	33608312	33608313	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:33608311_33608312A>AC	uc021ywr.1	+	1	364_365	c.140_141A>AC	c.(139-141)aacfs	p.N47fs		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	47					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|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			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GACCTGGACAACCCCCCTAAGA	0.609												
MOCS1	4337	broad.mit.edu	37	6	39893563	39893563	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:39893562_39893562AC>A	uc003opb.3	-	1	416	c.278_278GT>T	c.(277-279)gtcfs	p.V93fs	MOCS1_uc003opa.3_Frame_Shift_Del_p.V93fs|MOCS1_uc003opd.3_Frame_Shift_Del_p.V93fs|MOCS1_uc003ope.3_Frame_Shift_Del_p.V6fs	NM_005943	NP_005934	Q9NZB8	MOCS1_HUMAN	Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA.	93	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|GTP binding|catalytic activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGTCAGCGGGACCCCCTCCTC	0.617												
CUL9	23113	broad.mit.edu	37	6	43172149	43172150	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:43172148_43172149C>CAG	uc003ouk.3	+	20	4285_4286	c.4210_4211C>CAG	c.(4210-4212)cagfs	p.Q1404fs	CUL9_uc003oul.3_Frame_Shift_Ins_p.Q1404fs|CUL9_uc010jyk.3_Frame_Shift_Ins_p.Q556fs	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	1404					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	p.E1406fs*35(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GTACTTAGAACAGAGAGAGACC	0.564												
MDN1	23195	broad.mit.edu	37	6	90368572	90368578	+	Frame_Shift_Del	DEL	TCCTCTT	TCCTCTT	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:90368571_90368577CTCCTCTT>C	uc003pnn.1	-	88	14889_14895	c.14773_14779AAGAGGAG>G	c.(14773-14781)agaggagagfs	p.R4925fs		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	4925					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)		GTCTCGGTCTCTCCTCTTTCCTCAGCT	0.469												
THEMIS	387357	broad.mit.edu	37	6	128134568	128134568	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:128134567_128134567CT>C	uc011ebt.2	-	3	1368	c.1219_1219AG>G	c.(1219-1221)gtgfs	p.V407fs	THEMIS_uc010kfa.3_Frame_Shift_Del_p.V310fs|THEMIS_uc021zfa.1_Frame_Shift_Del_p.V407fs|THEMIS_uc010kfb.3_Frame_Shift_Del_p.V372fs	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	407	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ACATTCACCACTTTTTTTATT	0.463												
MYB	4602	broad.mit.edu	37	6	135518338	135518338	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:135518337_135518337GA>G	uc003qfh.3	+	9	1641	c.1442_1442GA>G	c.(1441-1443)cgafs	p.R481fs	MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Intron|MYB_uc003qfk.3_Intron|MYB_uc003qfc.3_Intron|MYB_uc003qfr.3_Intron|MYB_uc003qft.3_Intron|MYB_uc003qfs.3_Intron|MYB_uc003qfw.3_Intron|MYB_uc010kgi.3_Intron|MYB_uc003qfq.3_Frame_Shift_Del_p.R478fs|MYB_uc010kgj.3_Intron|MYB_uc003qfo.3_Intron|MYB_uc003qfu.3_Intron|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Intron|MYB_uc003qfv.3_Intron|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Intron|MYB_uc003qga.3_Intron|MYB_uc003qgb.3_Intron|MYB_uc010kgk.3_Intron|MYB_uc003qfd.3_Intron|MYB_uc003qfi.3_Frame_Shift_Del_p.R465fs|MYB_uc003qfe.3_Intron|MYB_uc003qfg.3_Intron|MYB_uc003qff.3_Intron|MYB_uc003qfj.3_Intron|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Intron|MYB_uc003qfb.1_Intron|MYB_uc003qge.1_Non-coding_Transcript	NM_001130173	NP_001123645	P10242	MYB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA.	449					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of T-helper cell differentiation|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GTCATCCTTCGAAAAAAACGG	0.522			T	NFIB	adenoid cystic carcinoma							
AHI1	54806	broad.mit.edu	37	6	135811862	135811863	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:135811861_135811862G>GT	uc003qgi.3	-	4	418_419	c.34_35C>AC	c.(34-36)accfs	p.T12fs	AHI1_uc003qgh.3_Frame_Shift_Ins_p.T12fs|AHI1_uc003qgj.3_Frame_Shift_Ins_p.T12fs|AHI1_uc003qgk.4_Non-coding_Transcript|AHI1_uc003qgl.3_Frame_Shift_Ins_p.T12fs	NM_001134831	NP_060121	Q8N157	AHI1_HUMAN	Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA.	12						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GCGAACTTTGGTTTTTACTTTT	0.351												
HECA	51696	broad.mit.edu	37	6	139488147	139488147	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:139488146_139488146AG>A	uc003qin.3	+	1	1282	c.997_997AG>A	c.(997-999)aggfs	p.R333fs		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	333					respiratory tube development					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)		GGCAGTTCACAGGGGGGGACA	0.587												
GPR126	57211	broad.mit.edu	37	6	142691377	142691377	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr6:142691376_142691376CA>C	uc010khe.3	+	3	926	c.515_515CA>C	c.(514-516)gcafs	p.A172fs	GPR126_uc010khc.3_Frame_Shift_Del_p.A172fs|GPR126_uc010khd.3_Frame_Shift_Del_p.A172fs|GPR126_uc010khf.3_Frame_Shift_Del_p.A172fs|GPR126_uc003qix.2_Frame_Shift_Del_p.A172fs	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN	Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.	172	Pentaxin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GTATCTGTTGCAAAAAGCATC	0.423												
CYTH3	9265	broad.mit.edu	37	7	6204578	6204578	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:6204577_6204577AT>A	uc003spt.3	-	12	1302	c.1198_1198AT>T	c.(1198-1200)tagfs	p.*400fs	CYTH3_uc011jws.2_Frame_Shift_Del_p.*315fs	NM_004227	NP_004218	O43739	CYH3_HUMAN	Homo sapiens cytohesin 3 (CYTH3), mRNA.	0					regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						CAGGAAAGCTATTTTTTATTG	0.532												
FKBP9	11328	broad.mit.edu	37	7	33014265	33014265	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:33014264_33014264GA>G	uc011kal.2	+	2	597	c.416_416GA>G	c.(415-417)ggafs	p.G139fs	AVL9_uc011kai.2_Intron|FKBP9_uc011kak.1_Intron|FKBP9_uc003tdh.3_Frame_Shift_Del_p.G86fs|FKBP9_uc010kwm.3_5'UTR	NM_007270	NP_009201	O95302	FKBP9_HUMAN	Homo sapiens FK506 binding protein 9, 63 kDa (FKBP9), mRNA.	86	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GTGTTTGTGGGAAAAGGACAG	0.463												
SEPT7	989	broad.mit.edu	37	7	35942747	35942747	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:35942746_35942746GA>G	uc010kxc.3	+	11	1413	c.1189_1189GA>G	c.(1189-1191)gaafs	p.E397fs	SEPT7_uc011kat.2_Frame_Shift_Del_p.E397fs|SEPT7_uc011kau.2_Frame_Shift_Del_p.E363fs|SEPT7_uc011kav.2_Frame_Shift_Del_p.E346fs	NM_001788	NP_001779	Q16181	SEPT7_HUMAN	Homo sapiens septin 7 (SEPT7), transcript variant 1, mRNA.	399					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						AGAATTGGAGGAAAAACGTCG	0.373												
IGFBP3	3486	broad.mit.edu	37	7	45956203	45956215	+	Frame_Shift_Del	DEL	GACTCAGCACATT	GACTCAGCACATT	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:45956202_45956214GGACTCAGCACATT>G	uc003tnr.3	-	2	833_845	c.701_713AATGTGCTGAGTCC>C	c.(700-714)aatgtgctgagtcccfs	p.N234fs	IGFBP3_uc003tnq.3_Non-coding_Transcript|IGFBP3_uc003tns.3_Frame_Shift_Del_p.N228fs|IGFBP3_uc003tnt.3_Frame_Shift_Del_p.N131fs	NM_001013398	NP_001013416	P17936	IBP3_HUMAN	Homo sapiens insulin-like growth factor binding protein 3 (IGFBP3), transcript variant 1, mRNA.	228	Thyroglobulin type-1.		G -> S (in dbSNP:rs35712717).		negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity	p.P238T(1)|p.N228S(1)		large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	TACACCCCTGGGACTCAGCACATTGAGGAACTT	0.469												
ABCA13	154664	broad.mit.edu	37	7	48312265	48312265	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:48312264_48312264CA>C	uc003toq.2	+	16	3025	c.3001_3001CA>C	c.(3001-3003)caafs	p.Q1001fs	ABCA13_uc010kyr.2_Frame_Shift_Del_p.Q504fs|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1001					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TATCATAAAACAATTTAATTT	0.303												
DMTF1	9988	broad.mit.edu	37	7	86817444	86817444	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:86817443_86817443CA>C	uc003uih.3	+	12	1563	c.1237_1237CA>C	c.(1237-1239)caafs	p.Q413fs	DMTF1_uc003uii.3_Frame_Shift_Del_p.Q147fs|DMTF1_uc003uij.3_Frame_Shift_Del_p.Q147fs|DMTF1_uc011khb.2_Frame_Shift_Del_p.Q325fs|DMTF1_uc003uik.3_Non-coding_Transcript|DMTF1_uc003uil.3_Frame_Shift_Del_p.Q413fs|DMTF1_uc003uin.3_Frame_Shift_Del_p.Q147fs	NM_001142327	NP_001135798	Q9Y222	DMTF1_HUMAN	Homo sapiens cyclin D binding myb-like transcription factor 1 (DMTF1), transcript variant 2, mRNA.	413	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					ACATGAGAACCAAAAAAACAA	0.408												
SRRT	51593	broad.mit.edu	37	7	100481744	100481744	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:100481743_100481743CG>C	uc003uwy.2	+	5	907	c.640_640CG>C	c.(640-642)cggfs	p.R214fs	SRRT_uc010lhl.1_Frame_Shift_Del_p.R214fs|SRRT_uc003uxa.2_Frame_Shift_Del_p.R214fs|SRRT_uc003uwz.2_Frame_Shift_Del_p.R214fs	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	214					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GCAGGAGGCCCGGGGGGCCCT	0.557												
IFRD1	3475	broad.mit.edu	37	7	112108039	112108039	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:112108038_112108038CT>C	uc003vgh.3	+	9	1379	c.909_909CT>C	c.(907-909)gacfs	p.D303fs	IFRD1_uc011kmn.2_Frame_Shift_Del_p.D253fs|IFRD1_uc003vgj.3_Frame_Shift_Del_p.D303fs|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Frame_Shift_Del_p.D253fs|IFRD1_uc003vgk.3_Frame_Shift_Del_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						TTGTCCAGGACTTTTTTTATG	0.388												
C7orf60	154743	broad.mit.edu	37	7	112535733	112535733	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:112535732_112535732CT>C	uc011kms.1	-	3	570	c.443_443AG>G	c.(442-444)agafs	p.R148fs	C7orf60_uc003vgo.1_Frame_Shift_Del_p.R122fs	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	Homo sapiens chromosome 7 open reading frame 60 (C7orf60), mRNA.	122										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						AAGTACAGCTCTTTTTTCATC	0.358												
AKR1B10	57016	broad.mit.edu	37	7	134222396	134222396	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr7:134222395_134222395CA>C	uc003vrr.3	+	6	1043	c.723_723CA>C	c.(721-723)cacfs	p.H241fs		NM_020299	NP_064695	O60218	AK1BA_HUMAN	Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.	241					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	p.H241N(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						CTGCAAAGCACAAAAAAACCG	0.443												
EPB49	2039	broad.mit.edu	37	8	21926552	21926553	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:21926551_21926552T>TC	uc022asw.1	+	3	312_313	c.274_275T>TC	c.(274-276)tccfs	p.S92fs	EPB49_uc022asq.1_Frame_Shift_Ins_p.S92fs|EPB49_uc011kys.1_Intron|EPB49_uc022asr.1_Frame_Shift_Ins_p.S92fs|EPB49_uc022ass.1_Frame_Shift_Ins_p.S67fs|EPB49_uc022ast.1_Frame_Shift_Ins_p.S92fs|EPB49_uc022asu.1_Frame_Shift_Ins_p.S92fs|EPB49_uc022asv.1_Frame_Shift_Ins_p.S92fs|EPB49_uc022asx.1_Frame_Shift_Ins_p.S92fs|EPB49_uc022asy.1_Frame_Shift_Ins_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)		CAAATCCACATCCCCCCCACCA	0.604												
PREX2	80243	broad.mit.edu	37	8	68992721	68992722	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:68992720_68992721G>GT	uc003xxv.1	+	15	1712_1713	c.1685_1686G>GT	c.(1684-1686)cgtfs	p.R562fs	PREX2_uc003xxu.1_Frame_Shift_Ins_p.R562fs|PREX2_uc011lez.1_Frame_Shift_Ins_p.R497fs	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	562	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTACTTTTCCGTTTTTTTTCGG	0.332												
INTS8	55656	broad.mit.edu	37	8	95892421	95892422	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:95892420_95892421G>GA	uc003yhb.3	+	26	3072_3073	c.2946_2947G>GA	c.(2944-2949)aggaaafs	p.R982fs	INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_Frame_Shift_Ins_p.R792fs	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	982					snRNA processing	integrator complex	protein binding	p.K985fs*>11(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					CGCAGAGAAGGAAAAAAAAGTT	0.337												
VPS13B	157680	broad.mit.edu	37	8	100673594	100673595	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:100673593_100673594ACT>A	uc003yiv.3	+	34	6106_6107	c.5995_5996ACT>A	c.(5995-5997)actfs	p.T1999fs	VPS13B_uc003yiw.3_Frame_Shift_Del_p.T1974fs	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1999					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCCTGGGAAGACTCTGCCTGAA	0.356												
FAM83A	84985	broad.mit.edu	37	8	124221697	124221698	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:124221696_124221697C>CA	uc003ypw.3	+	5	3078_3079	c.1064_1065C>CA	c.(1063-1065)acafs	p.T355fs	FAM83A_uc003ypy.3_Intron|FAM83A_uc003ypz.3_Frame_Shift_Ins_p.T355fs	NM_207006	NP_996889	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 2, mRNA.	0	Pro-rich.|Ser-rich.									breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AAAACAAAAACAAAAAAACAAA	0.356												
MTSS1	9788	broad.mit.edu	37	8	125597329	125597329	+	Splice_Site	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr8:125597328_125597328CT>C	uc003yrl.2	-	6	994	c.460_splice	c.e6+1	p.V154_splice	MTSS1_uc003yrj.2_Splice_Site_p.G154_splice|MTSS1_uc003yrk.2_Splice_Site_p.G154_splice	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	153	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TAGGAGTTACCTTTTTTTGCT	0.373												
KANK1	23189	broad.mit.edu	37	9	711075	711076	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:711074_711075G>GC	uc003zgl.1	+	6	957_958	c.308_309G>GC	c.(307-309)tgcfs	p.C103fs	KANK1_uc003zgm.3_Frame_Shift_Ins_p.C103fs|KANK1_uc003zgn.1_Frame_Shift_Ins_p.C103fs|KANK1_uc003zgo.1_Frame_Shift_Ins_p.C103fs|KANK1_uc003zgp.1_Frame_Shift_Ins_p.C103fs|KANK1_uc003zgq.2_5'UTR|KANK1_uc003zgr.1_5'UTR|KANK1_uc003zgs.1_5'UTR	NM_015158	NP_055973	Q14678	KANK1_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 1 (KANK1), transcript variant 1, mRNA.	103					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		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)		AACAAGCAGTGCCCCAACTTCC	0.510												
KIAA0020	9933	broad.mit.edu	37	9	2804408	2804409	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:2804407_2804408C>CT	uc003zhp.1	-	17	1966_1967	c.1870_1871G>AG	c.(1870-1872)agcfs	p.S624fs	KIAA0020_uc003zhq.1_Frame_Shift_Ins_p.S623fs	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	624						endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		AGGAATCAAGCTTTTCAGTGCA	0.381												
TAF1L	138474	broad.mit.edu	37	9	32633025	32633025	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:32633024_32633024CT>C	uc003zrg.1	-	0	2644	c.2554_2554AG>G	c.(2554-2556)gccfs	p.A852fs	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	852					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.A852fs*14(1)		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)		GAAGGAAAGGCTTTTTTTATA	0.443												
C9orf131	138724	broad.mit.edu	37	9	35044408	35044408	+	Frame_Shift_Del	DEL	A	A	-	rs150136527		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:35044407_35044407CA>C	uc003zvw.3	+	1	1810	c.1781_1781CA>C	c.(1780-1782)acafs	p.T594fs	C9orf131_uc003zvu.3_Frame_Shift_Del_p.T546fs|C9orf131_uc003zvv.3_Frame_Shift_Del_p.T521fs|C9orf131_uc003zvx.3_Frame_Shift_Del_p.T559fs	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	594										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ATACAAAAGACAAAAAACTCC	0.532												
CREB3	10488	broad.mit.edu	37	9	35736505	35736506	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:35736504_35736505CTG>C	uc003zxv.3	+	8	1350_1351	c.897_898CTG>C	c.(895-900)gactgtfs	p.D299fs	CREB3_uc010mla.3_Frame_Shift_Del_p.D218fs	NM_006368	NP_006359	O43889	CREB3_HUMAN	Homo sapiens cAMP responsive element binding protein 3 (CREB3), mRNA.	323					chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	Golgi apparatus|cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nucleus	CCR1 chemokine receptor binding|DNA binding|cAMP response element binding protein binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		ACGGCTCAGACTGTGTACTCCA	0.609											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GBA2	57704	broad.mit.edu	37	9	35738574	35738575	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:35738573_35738574A>AT	uc011lpd.2	-	13	2520_2521	c.2021_2022T>AT	c.(2020-2022)aatfs	p.N674fs	GBA2_uc003zxw.3_Frame_Shift_Ins_p.N668fs|GBA2_uc003zxx.1_5'UTR|GBA2_uc011lpb.1_Frame_Shift_Ins_p.N668fs|GBA2_uc011lpc.1_Frame_Shift_Ins_p.N668fs	NM_020944	NP_065995	Q9HCG7	GBA2_HUMAN	Homo sapiens glucosidase, beta (bile acid) 2 (GBA2), mRNA.	668					O-glycoside catabolic process|bile acid metabolic process|glucosylceramide catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CATAGCCTCCATTTTCAATGAG	0.515												
PAPPA	5069	broad.mit.edu	37	9	119144763	119144763	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:119144762_119144762AG>A	uc004bjn.3	+	20	5147	c.4766_4766AG>A	c.(4765-4767)aagfs	p.K1589fs	PAPPA_uc011lxq.2_Frame_Shift_Del_p.K964fs	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1589					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TCCACAGTGAAGACCAAAAAG	0.552												
CDK5RAP2	55755	broad.mit.edu	37	9	123253654	123253654	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:123253653_123253653AT>A	uc004bkf.3	-	12	1595	c.1414_1414AT>T	c.(1414-1416)ttgfs	p.L472fs	CDK5RAP2_uc004bkg.3_Frame_Shift_Del_p.L472fs|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.L472fs|CDK5RAP2_uc004bki.3_Frame_Shift_Del_p.L271fs	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	472					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						TGATTGTGCAATTTTTTATTG	0.318												
OR1J2	26740	broad.mit.edu	37	9	125273386	125273386	+	Frame_Shift_Del	DEL	T	T	-	rs145911830	by1000genomes	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:125273385_125273385AT>A	uc011lyv.2	+	0	305	c.305_305AT>A	c.(304-306)tatfs	p.Y102fs	OR1J2_uc004bmj.2_Frame_Shift_Del_p.Y102fs	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TCTCAGATGTATTTTTTTATA	0.403												
TTF1	7270	broad.mit.edu	37	9	135277202	135277202	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:135277201_135277201CT>C	uc004cbl.3	-	1	1077	c.1008_1008AG>G	c.(1006-1008)aagfs	p.K336fs	TTF1_uc004cbm.3_Intron|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	336	Poly-Lys.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TGGACTTTTTCTTTTTTTTCT	0.507												
PNPLA7	375775	broad.mit.edu	37	9	140356679	140356680	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:140356678_140356679T>TG	uc010ncj.1	-	30	3934_3935	c.3597_3598A>CA	c.(3595-3600)cccatcfs	p.P1199fs	PNPLA7_uc004cnd.1_Frame_Shift_Ins_p.P421fs|PNPLA7_uc004cne.1_Frame_Shift_Ins_p.P440fs|PNPLA7_uc011mfa.1_Frame_Shift_Ins_p.P582fs|PNPLA7_uc004cnf.2_Frame_Shift_Ins_p.P1174fs|NELF_uc004cna.3_5'Flank|NELF_uc004cnb.3_5'Flank|NELF_uc004cmz.3_5'Flank|NELF_uc011mez.2_5'Flank|NELF_uc004cnc.3_5'Flank|NELF_uc022bqi.1_5'Flank	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	1174					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TAGCTGTCGATGGGGGGGCGCA	0.649												
WDR85	92715	broad.mit.edu	37	9	140469211	140469211	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr9:140469210_140469210GT>G	uc004cnk.1	-	3	619	c.461_461AC>C	c.(460-462)actfs	p.T154fs	WDR85_uc004cnm.1_5'UTR|WDR85_uc022bqk.1_Non-coding_Transcript	NM_138778	NP_620133	Q9BTV6	WDR85_HUMAN	Homo sapiens WD repeat domain 85 (WDR85), mRNA.	154					peptidyl-diphthamide biosynthetic process from peptidyl-histidine					breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	8	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509)		TTACCTTCCAGTTTTCCCAGT	0.562												
LARP4B	23185	broad.mit.edu	37	10	890939	890940	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:890938_890939G>GT	uc001ifs.1	-	4	528_529	c.487_488C>AC	c.(487-489)acafs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	163	HTH La-type RNA-binding.						RNA binding|nucleotide binding	p.T163P(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GAATTCCAATGTTTTTTTAAGT	0.351												
PFKP	5214	broad.mit.edu	37	10	3174596	3174597	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:3174595_3174596G>GA	uc001igp.3	+	17	1948_1949	c.1872_1873G>GA	c.(1870-1875)gagaaafs	p.E624fs	PFKP_uc001igq.3_Frame_Shift_Ins_p.E616fs|PFKP_uc009xhr.3_Frame_Shift_Ins_p.E586fs|PFKP_uc009xht.3_Frame_Shift_Ins_p.E362fs|PFKP_uc009xhu.3_Frame_Shift_Ins_p.E130fs	NM_002627	NP_002618	Q01813	K6PP_HUMAN	Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.	624					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		ACCTGACGGAGAAAATGAAGAC	0.505												
UPF2	26019	broad.mit.edu	37	10	11998525	11998525	+	Splice_Site	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:11998524_11998524TA>T	uc001ila.3	-	12	2845	c.2371_splice	c.e12-1	p.V791_splice	UPF2_uc001ilb.3_Splice_Site_p.V791_splice|UPF2_uc001ilc.3_Splice_Site_p.V791_splice|UPF2_uc009xiz.2_Splice_Site_p.V791_splice	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	791	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TCTCAAAACCTAAAAAAAGAG	0.328												
OPTN	10133	broad.mit.edu	37	10	13151192	13151192	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:13151191_13151191AC>A	uc001ilu.1	+	3	507	c.69_69AC>A	c.(67-69)ggafs	p.G23fs	OPTN_uc001ilv.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ilw.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ilx.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ily.1_Frame_Shift_Del_p.G23fs|OPTN_uc010qbr.1_5'UTR	NM_001008213	NP_068815	Q96CV9	OPTN_HUMAN	Homo sapiens optineurin (OPTN), transcript variant 4, mRNA.	23					Golgi ribbon formation|Golgi to plasma membrane protein transport|cell death|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CAGGAAATGGACCCCCCCACC	0.562												
FAM171A1	221061	broad.mit.edu	37	10	15255036	15255036	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:15255035_15255035TG>T	uc001iob.3	-	7	2559	c.2552_2552CA>A	c.(2551-2553)cacfs	p.H851fs		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	851						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TCTTCTCTGGTGGGGGCTGGC	0.627												
CUBN	8029	broad.mit.edu	37	10	16949569	16949569	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:16949568_16949568GA>G	uc001ioo.3	-	48	7696	c.7644_7644TC>C	c.(7642-7644)ttcfs	p.F2548fs	CUBN_uc009xjq.1_Intron|CUBN_uc009xjr.1_Intron	NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	2548	CUB 18.				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			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATCCATCCGTGAAAAAAATGA	0.418												
ZNF248	57209	broad.mit.edu	37	10	38121237	38121237	+	Frame_Shift_Del	DEL	C	C	-	rs34731183		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:38121236_38121236TC>T	uc001izd.1	-	5	1546	c.1047_1047GA>A	c.(1045-1047)ggafs	p.G349fs	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.3_Intron|ZNF248_uc001izc.3_Intron|ZNF248_uc010qeu.1_Frame_Shift_Del_p.G349fs	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	Homo sapiens zinc finger protein 248 (ZNF248), mRNA.	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CATAAGACTTTCCCCCCATGT	0.398												
DDX50	79009	broad.mit.edu	37	10	70670982	70670982	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:70670981_70670981TA>T	uc001jou.3	+	3	725	c.618_618TA>T	c.(616-618)attfs	p.I206fs	DDX50_uc001jot.3_Frame_Shift_Del_p.I206fs	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50), mRNA.	206	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AAGAAACAATTAAAAAAAGCC	0.368												
PTEN	5728	broad.mit.edu	37	10	89717770	89717770	+	Frame_Shift_Del	DEL	A	A	-	rs121913289		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:89717769_89717769TA>T	uc001kfb.3	+	6	1826	c.794_794TA>T	c.(793-795)ctafs	p.L265fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	265	C2 tensin-type.				T cell receptor signaling pathway|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 G1/S transition of mitotic cell cycle|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 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	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion 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.0?(37)|p.R55fs*1(5)|p.M264fs*8(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.D268fs*30(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		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)		AACAAGATGCTAAAAAAGGTT	0.348		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
SLIT1	6585	broad.mit.edu	37	10	98816132	98816134	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:98816131_98816133CTTG>C	uc001kmw.2	-	12	1498_1500	c.1246_1248CAAG>G	c.(1246-1248)aag>G	p.K416del	SLIT1_uc009xvh.1_In_Frame_Del_p.K426del	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	416					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGCTCTGGATCTTGTTGTCATAC	0.596												
ARHGAP19	84986	broad.mit.edu	37	10	99019160	99019160	+	Splice_Site	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:99019159_99019159AT>A	uc001knb.3	-	5	886	c.840_splice	c.e5+1	p.N280_splice	ARHGAP19_uc001kmy.3_Splice_Site|ARHGAP19_uc001kna.3_Splice_Site_p.N271_splice|ARHGAP19_uc009xvj.3_Splice_Site_p.N280_splice|ARHGAP19_uc009xvi.3_Splice_Site|ARHGAP19_uc009xvk.3_Splice_Site_p.N74_splice	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN	Homo sapiens Rho GTPase activating protein 19 (ARHGAP19), transcript variant 1, mRNA.	280	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		CAACACTCACATTTTTTGGCC	0.448												
LDB1	8861	broad.mit.edu	37	10	103868824	103868826	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:103868823_103868825CTCT>C	uc009xwz.3	-	9	1309_1311	c.966_968AGAG>G	c.(964-969)aagagc>aaGc	p.S323del	LDB1_uc001kuk.4_In_Frame_Del_p.S287del|LDB1_uc001kul.3_In_Frame_Del_p.S287del	NM_001113407	NP_003884	Q86U70	LDB1_HUMAN	Homo sapiens LIM domain binding 1 (LDB1), transcript variant 1, mRNA.	323					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			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GCTAGCTGGGCTCTTCTTCTTGC	0.591												
NFKB2	4791	broad.mit.edu	37	10	104158163	104158163	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:104158162_104158162AC>A	uc001kvb.3	+	10	1138	c.873_873AC>A	c.(871-873)acafs	p.T291fs	NFKB2_uc001kva.3_Frame_Shift_Del_p.T291fs|NFKB2_uc010qqk.1_Frame_Shift_Del_p.T291fs|NFKB2_uc001kvd.3_Frame_Shift_Del_p.T291fs|NFKB2_uc009xxc.3_Frame_Shift_Del_p.T291fs	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) (NFKB2), transcript variant 1, mRNA.	291	RHD.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		TGTTCCGGACACCCCCCTATC	0.572			T	IGH@	B-NHL							
NRAP	4892	broad.mit.edu	37	10	115383370	115383370	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:115383369_115383369GT>G	uc001lal.3	-	22	2540	c.2376_2376AC>C	c.(2374-2376)aacfs	p.N792fs	NRAP_uc009xyb.3_Intron|NRAP_uc001laj.3_Frame_Shift_Del_p.N792fs|NRAP_uc001lak.3_Frame_Shift_Del_p.N757fs	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	792						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTGCTTTCTGGTTTTCCCAGC	0.498												
TACC2	10579	broad.mit.edu	37	10	123844356	123844356	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr10:123844355_123844355TC>T	uc001lfv.3	+	3	2700	c.2340_2340TC>T	c.(2338-2340)catfs	p.H780fs	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Frame_Shift_Del_p.H780fs|TACC2_uc010qtv.2_Frame_Shift_Del_p.H780fs	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	780						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGGTGCCACATCCCCCCCAGG	0.642												
MYOD1	4654	broad.mit.edu	37	11	17741373	17741373	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:17741372_17741372GC>G	uc001mni.3	+	0	263	c.43_43GC>G	c.(43-45)gccfs	p.A15fs		NM_002478	NP_002469	P15172	MYOD1_HUMAN	Homo sapiens myogenic differentiation 1 (MYOD1), mRNA.	15					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						AGACCTGACGGCCCCCGACGG	0.652												
ZDHHC13	54503	broad.mit.edu	37	11	19177422	19177422	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:19177421_19177421CT>C	uc001mpi.3	+	8	1057	c.952_952CT>C	c.(952-954)cttfs	p.L318fs	ZDHHC13_uc001mpj.3_Frame_Shift_Del_p.L188fs	NM_019028	NP_001001483	Q8IUH4	ZDH13_HUMAN	Homo sapiens zinc finger, DHHC-type containing 13 (ZDHHC13), transcript variant 1, mRNA.	318					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						AGATTCTTGGCTTTTAAAAGG	0.353												
KIF18A	81930	broad.mit.edu	37	11	28058164	28058165	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:28058163_28058164C>CT	uc001msc.2	-	13	2178_2179	c.1996_1997G>AG	c.(1996-1998)agafs	p.R666fs		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	Homo sapiens kinesin family member 18A (KIF18A), mRNA.	666					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	ATP binding|actin binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TCTCCGAGTTCTTTTTTCTGTA	0.356												
HIPK3	10114	broad.mit.edu	37	11	33358693	33358694	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:33358692_33358693A>AT	uc001mul.1	+	3	1563_1564	c.1293_1294A>AT	c.(1291-1296)agatttfs	p.R431fs	HIPK3_uc001mum.1_Frame_Shift_Ins_p.R431fs|HIPK3_uc009yjv.1_Frame_Shift_Ins_p.R431fs|HIPK3_uc009yjw.1_Non-coding_Transcript	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	Homo sapiens homeodomain interacting protein kinase 3 (HIPK3), transcript variant 1, mRNA.	431	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.R431I(2)		endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						AATCCACAAGATTTTTTTGCAA	0.312												
PAMR1	25891	broad.mit.edu	37	11	35513670	35513670	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	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												
OR5M3	219482	broad.mit.edu	37	11	56237709	56237709	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:56237708_56237708GT>G	uc010rjk.2	-	0	307	c.266_266AC>C	c.(265-267)acafs	p.T89fs	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					ATAAGTAATTGTTTTTTTATC	0.363												
TNKS1BP1	85456	broad.mit.edu	37	11	57077118	57077119	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:57077117_57077118CCT>C	uc001njr.3	-	4	3379_3380	c.3067_3068AGG>G	c.(3067-3069)ggafs	p.G1023fs	TNKS1BP1_uc001njs.3_Frame_Shift_Del_p.G1023fs|TNKS1BP1_uc009ymd.1_Frame_Shift_Del_p.G474fs	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1023	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GCCCCCGGATCCTCTCTCTCCT	0.594												
ZFP91	80829	broad.mit.edu	37	11	58377810	58377810	+	Splice_Site	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:58377809_58377809TA>T	uc001nmx.4	+	4	785	c.617_splice	c.e4+2	p.S206_splice	ZFP91_uc001nmy.4_Splice_Site_p.S206_splice|CNTF_uc010rkm.2_Splice_Site	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	Homo sapiens zinc finger protein 91 homolog (mouse) (ZFP91), transcript variant 1, mRNA.	206	Glu-rich.			Missing (in Ref. 4; AAH51743).	activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGGCATTAGGTAAAAAAAACA	0.313												
OR4D9	390199	broad.mit.edu	37	11	59282835	59282835	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:59282834_59282834TG>T	uc010rkv.2	+	0	449	c.449_449TG>T	c.(448-450)gtgfs	p.V150fs		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	150				ASWVGGF -> GFLGGGL (in Ref. 2; AC019093).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						GCTTCCTGGGTGGGGGGCTTT	0.542												
RTN3	10313	broad.mit.edu	37	11	63488464	63488465	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:63488463_63488464T>TA	uc001nxq.3	+	2	2676_2677	c.2489_2490T>TA	c.(2488-2490)gtafs	p.V830fs	RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Frame_Shift_Ins_p.V718fs|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Frame_Shift_Ins_p.V811fs|RTN3_uc001nxo.3_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	830					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						ACTGAATTGGTAAAAAAGCATG	0.401												
C11orf68	83638	broad.mit.edu	37	11	65684985	65684985	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:65684984_65684984AC>A	uc001ogi.3	-	1	857	c.828_828GT>T	c.(826-828)ggtfs	p.G276fs	C11orf68_uc009yqv.3_Frame_Shift_Del_p.G275fs|DRAP1_uc001ogj.2_5'Flank	NM_001135635	NP_001129107	Q9H3H3	CK068_HUMAN	Homo sapiens chromosome 11 open reading frame 68 (C11orf68), transcript variant 1, mRNA.	234										large_intestine(1)|lung(3)	4				READ - Rectum adenocarcinoma(159;0.166)		CACGGGCACTACCCCCAAGCT	0.617												
SUV420H1	51111	broad.mit.edu	37	11	67925937	67925937	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:67925936_67925936AT>A	uc001onm.1	-	10	2133	c.1877_1877AT>T	c.(1876-1878)atafs	p.I626fs	SUV420H1_uc009yse.1_Frame_Shift_Del_p.I212fs|SUV420H1_uc001onn.1_Frame_Shift_Del_p.I454fs|SUV420H1_uc009ysf.2_Frame_Shift_Del_p.I386fs	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.	626					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AGATTCCTCTATTTTTGCAAA	0.478												
CPT1A	1374	broad.mit.edu	37	11	68582821	68582821	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:68582820_68582820CT>C	uc001oog.4	-	1	293	c.123_123AG>G	c.(121-123)aagfs	p.K41fs	CPT1A_uc001oof.4_Frame_Shift_Del_p.K41fs	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	41					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	TGATGAACTTCTTTTTCCAGG	0.448												
C2CD3	26005	broad.mit.edu	37	11	73789381	73789381	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:73789380_73789380CT>C	uc001ouu.2	-	22	4610	c.4383_4383AG>G	c.(4381-4383)aagfs	p.K1461fs	C2CD3_uc001out.3_Non-coding_Transcript	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	1461						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CCATAATCTGCTTTTTGTTTA	0.438												
ALG8	79053	broad.mit.edu	37	11	77835229	77835230	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:77835228_77835229A>AG	uc001oza.1	-	2	271_272	c.206_207T>CT	c.(205-207)cctfs	p.P69fs	ALG8_uc001oyz.1_Frame_Shift_Ins_p.P69fs|ALG8_uc009yuy.1_Non-coding_Transcript	NM_024079	NP_076984	Q9BVK2	ALG8_HUMAN	Homo sapiens asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) (ALG8), transcript variant 1, mRNA.	69					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			ATGCAAAGAAAGGGGGGTAATC	0.366												
PCF11	51585	broad.mit.edu	37	11	82877219	82877219	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:82877218_82877218GA>G	uc001ozx.4	+	4	1624	c.1279_1279GA>G	c.(1279-1281)gaafs	p.E427fs	PCF11_uc010rsu.1_Frame_Shift_Del_p.E427fs	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	427	Lys-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AAAAACTGCAGAAAAAAAGGA	0.353												
CTSC	1075	broad.mit.edu	37	11	88068108	88068108	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:88068107_88068107TA>T	uc001pck.4	-	1	417	c.316_316TA>A	c.(316-318)aagfs	p.K106fs	CTSC_uc001pcl.4_5'UTR|CTSC_uc001pcm.4_Frame_Shift_Del_p.K106fs|CTSC_uc001pcn.4_Frame_Shift_Del_p.K106fs	NM_001814	NP_001805	P53634	CATC_HUMAN	Homo sapiens cathepsin C (CTSC), transcript variant 1, mRNA.	106					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAACTAACCTTAAAAAAGGCA	0.338												
ZC3H12C	85463	broad.mit.edu	37	11	110035762	110035762	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:110035761_110035761TC>T	uc010rwc.2	+	5	1954	c.1954_1954TC>T	c.(1954-1956)tccfs	p.S652fs	ZC3H12C_uc009yxw.3_Frame_Shift_Del_p.S651fs|ZC3H12C_uc010rwd.2_Frame_Shift_Del_p.S652fs|ZC3H12C_uc001pkr.4_Frame_Shift_Del_p.S620fs	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	Homo sapiens zinc finger CCCH-type containing 12C (ZC3H12C), mRNA.	651							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CTATGTCAGCTCCCCCGACCC	0.527												
FDXACB1	91893	broad.mit.edu	37	11	111745971	111745971	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:111745970_111745970AT>A	uc001pmc.4	-	4	1876	c.1551_1551AT>T	c.(1549-1551)aatfs	p.N517fs	ALG9_uc010rwo.2_Intron|FDXACB1_uc009yyi.3_Frame_Shift_Del_p.N368fs	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	Homo sapiens ferredoxin-fold anticodon binding domain containing 1 (FDXACB1), transcript variant 1, mRNA.	517					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						CAGGGACAAAATTTTTCAGGA	0.378												
BCO2	83875	broad.mit.edu	37	11	112071414	112071414	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:112071413_112071413CG>C	uc001pnf.3	+	6	1060	c.943_943CG>C	c.(943-945)cggfs	p.R315fs	BCO2_uc001pne.1_Frame_Shift_Del_p.R142fs|BCO2_uc001png.3_Frame_Shift_Del_p.R242fs|BCO2_uc001pnh.3_Frame_Shift_Del_p.R281fs|BCO2_uc010rwt.2_Frame_Shift_Del_p.R210fs|BCO2_uc009yyn.3_Frame_Shift_Del_p.R281fs|BCO2_uc001pni.3_Frame_Shift_Del_p.R281fs	NM_031938	NP_001032367	Q9BYV7	BCDO2_HUMAN	Homo sapiens beta-carotene oxygenase 2 (BCO2), transcript variant 1, mRNA.	315					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						TTCTAAAATTCGGGGAAAGGC	0.408												
POU2F3	25833	broad.mit.edu	37	11	120187961	120187963	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:120187960_120187962GAAC>G	uc021qrk.1	+	11	1198_1200	c.1164_1166GAAC>G	c.(1162-1167)gggaac>ggGc	p.N390del	POU2F3_uc001pxc.3_In_Frame_Del_p.N388del|POU2F3_uc010rzk.2_In_Frame_Del_p.N342del|POU2F3_uc010rzl.2_In_Frame_Del_p.N318del|POU2F3_uc001pxe.1_In_Frame_Del_p.N173del	NM_001244682	NP_001231611	Q9UKI9	PO2F3_HUMAN	Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 2, mRNA.	388	Ser-rich.		R -> K (in dbSNP:rs2282537).		negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	p.R390K(1)		large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GTTCCCCTGGGAACAACAGCAGG	0.542												
KCNJ1	3758	broad.mit.edu	37	11	128709635	128709635	+	Frame_Shift_Del	DEL	T	T	-	rs138120505	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:128709634_128709634GT>G	uc001qeo.1	-	1	613	c.562_562AC>C	c.(562-564)cgtfs	p.R188fs	KCNJ1_uc001qep.1_Frame_Shift_Del_p.R169fs|KCNJ1_uc001qeq.1_Frame_Shift_Del_p.R169fs|KCNJ1_uc001qer.1_Frame_Shift_Del_p.R169fs|KCNJ1_uc001qes.1_Frame_Shift_Del_p.R169fs|KCNJ1_uc021qsb.1_Frame_Shift_Del_p.R169fs	NM_000220	NP_000211	P48048	IRK1_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA.	188					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	GTCTTGGCACGTTTTTTGGGC	0.463												
PRDM10	56980	broad.mit.edu	37	11	129827738	129827738	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr11:129827737_129827737TG>T	uc001qfm.3	-	2	370	c.138_138CA>A	c.(136-138)ccafs	p.P46fs	PRDM10_uc001qfn.3_Frame_Shift_Del_p.P46fs|PRDM10_uc009zct.1_Frame_Shift_Del_p.P46fs	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CCACCTGCTGTGGGGGGCGAA	0.542												
EFCAB4B	84766	broad.mit.edu	37	12	3788267	3788267	+	Splice_Site	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:3788266_3788266TG>T	uc010sen.1	-	6	913	c.341_splice	c.e6-1	p.S114_splice	EFCAB4B_uc001qmj.2_Splice_Site_p.S114_splice	NM_001144958	NP_001138430	Q9BSW2	EFC4B_HUMAN	Homo sapiens EF-hand calcium binding domain 4B (EFCAB4B), transcript variant 1, mRNA.	114	EF-hand 2.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			AGAAGTGACCTGGGGGGTGCA	0.522												
ATN1	1822	broad.mit.edu	37	12	7045865	7045866	+	In_Frame_Ins	INS	-	-	CATCAC			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:7045864_7045865A>ACATCAC	uc001qrw.1	+	4	1671_1672	c.1434_1435A>ACATCAC	c.(1432-1437)acacat>acACATCACat	p.483_484insH	ATN1_uc001qrx.1_In_Frame_Ins_p.483_484insH|ATN1_uc001qry.1_In_Frame_Ins_p.482_483insH	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	483	Poly-His.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CAGTCTCAACACATCACCATCA	0.634												
STYK1	55359	broad.mit.edu	37	12	10772835	10772836	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:10772834_10772835AAC>A	uc001qys.2	-	10	1698_1699	c.1177_1178GTT>T	c.(1177-1179)ttafs	p.L393fs		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	393						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						TGGTACTTGTAACACAGCCTCG	0.550										HNSCC(73;0.22)		
TMEM117	84216	broad.mit.edu	37	12	44605117	44605117	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:44605116_44605116GA>G	uc001rod.3	+	4	620	c.554_554GA>G	c.(553-555)ggafs	p.G185fs	TMEM117_uc001roe.3_Frame_Shift_Del_p.G81fs|TMEM117_uc009zkc.3_Frame_Shift_Del_p.G185fs	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	Homo sapiens transmembrane protein 117 (TMEM117), mRNA.	185						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CCTGACTGGGGAAAATCAGCA	0.368												
AMIGO2	347902	broad.mit.edu	37	12	47472385	47472386	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:47472384_47472385A>AT	uc001rpm.3	-	2	1056_1057	c.401_402T>AT	c.(400-402)aatfs	p.N134fs	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Frame_Shift_Ins_p.N134fs|AMIGO2_uc001rpl.3_Frame_Shift_Ins_p.N134fs|AMIGO2_uc021qxg.1_Frame_Shift_Ins_p.N134fs	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	134					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		p.N134fs*7(2)		endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					GGAATACAGCATTTTTCACCGT	0.441												
MLL2	8085	broad.mit.edu	37	12	49445526	49445526	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:49445525_49445525TG>T	uc001rta.4	-	9	1941	c.1941_1941CA>A	c.(1939-1941)ccafs	p.P647fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	647	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|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	p.P647fs*38(1)		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						ATACCTCAGGTGGGGGGGACA	0.632			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
FAM186B	84070	broad.mit.edu	37	12	49993443	49993445	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:49993442_49993444CCTT>C	uc001ruo.3	-	3	2152_2154	c.1979_1981AAGG>G	c.(1978-1983)aaggtg>aGtg	p.660_661KV>S	FAM186B_uc010smk.2_In_Frame_Del_p.570_571KV>S	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	Homo sapiens family with sequence similarity 186, member B (FAM186B), transcript variant 1, mRNA.	660						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGTGGTACACCTTCTTCTTAAT	0.537												
PRPF40B	25766	broad.mit.edu	37	12	50025229	50025229	+	Frame_Shift_Del	DEL	C	C	-	rs139675241		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:50025228_50025228AC>A	uc001rur.1	+	1	126	c.63_63AC>A	c.(61-63)ctafs	p.L21fs	PRPF40B_uc001rup.1_Frame_Shift_Del_p.L43fs|PRPF40B_uc001ruq.1_Frame_Shift_Del_p.L15fs|PRPF40B_uc001rus.1_5'Flank	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	21	Pro-rich.				RNA splicing|mRNA processing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CGATGGGGCTACCCCCCATGA	0.607												
SHMT2	6472	broad.mit.edu	37	12	57627077	57627077	+	Frame_Shift_Del	DEL	G	G	-	rs35603162		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:57627076_57627076AG>A	uc001snf.2	+	7	1177	c.971_971AG>A	c.(970-972)cagfs	p.Q324fs	SHMT2_uc001snh.2_Frame_Shift_Del_p.Q326fs|SHMT2_uc009zpk.2_Frame_Shift_Del_p.Q314fs|SHMT2_uc001sng.2_Frame_Shift_Del_p.Q220fs|SHMT2_uc001sni.2_Frame_Shift_Del_p.Q303fs|SHMT2_uc010srg.2_Frame_Shift_Del_p.Q333fs|SHMT2_uc010srh.2_Frame_Shift_Del_p.Q303fs|SHMT2_uc001snj.2_Frame_Shift_Del_p.Q228fs|SHMT2_uc010sri.2_Frame_Shift_Del_p.Q303fs|SHMT2_uc001snk.2_Frame_Shift_Del_p.Q228fs|SHMT2_uc010srj.2_5'UTR	NM_005412	NP_001159831	P34897	GLYM_HUMAN	Homo sapiens serine hydroxymethyltransferase 2 (mitochondrial) (SHMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	324						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CCATCCCTGCAGGGGGGCCCC	0.587												
MBD6	114785	broad.mit.edu	37	12	57921401	57921401	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:57921400_57921400AC>A	uc001soj.1	+	7	2417	c.2193_2193AC>A	c.(2191-2193)agafs	p.R731fs	MBD6_uc001sok.1_Frame_Shift_Del_p.R598fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	731	Pro-rich.					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						ACTCAGGGAGACCCCCCCAAC	0.602												
TMEM19	55266	broad.mit.edu	37	12	72094768	72094768	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:72094767_72094767AG>A	uc001sws.3	+	5	1586	c.1003_1003AG>A	c.(1003-1005)aggfs	p.R335fs		NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	Homo sapiens transmembrane protein 19 (TMEM19), mRNA.	335						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		TTTTTGGCCCAGGGGGTGAAC	0.418												
GLIPR1L2	144321	broad.mit.edu	37	12	75804255	75804255	+	Frame_Shift_Del	DEL	A	A	-	rs144818804	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:75804254_75804254GA>G	uc001sxr.1	+	1	283	c.275_275GA>G	c.(274-276)ggafs	p.G92fs	GLIPR1L2_uc001sxp.1_Frame_Shift_Del_p.G92fs|GLIPR1L2_uc001sxq.1_5'UTR	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN	Homo sapiens GLI pathogenesis-related 1 like 2 (GLIPR1L2), mRNA.	92						integral to membrane				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						AGAGCATGGGGAAAAAAATGT	0.318												
C12orf45	121053	broad.mit.edu	37	12	105388460	105388460	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:105388459_105388459TA>T	uc001tlb.3	+	3	576	c.543_543TA>T	c.(541-543)agtfs	p.S181fs		NM_152318	NP_689531	Q8N5I9	CL045_HUMAN	Homo sapiens chromosome 12 open reading frame 45 (C12orf45), mRNA.	181										large_intestine(1)|lung(2)	3						GTCCAGCAAGTAAAAAAAAGA	0.353												
WSCD2	9671	broad.mit.edu	37	12	108634217	108634217	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:108634216_108634216GC>G	uc001tms.3	+	7	1984	c.1240_1240GC>G	c.(1240-1242)gccfs	p.A414fs	WSCD2_uc001tmt.3_Frame_Shift_Del_p.A414fs|WSCD2_uc001tmu.3_Frame_Shift_Del_p.A162fs	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	414						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CTTCGACGCCGCCATCCTGCT	0.607												
TCHP	84260	broad.mit.edu	37	12	110344435	110344435	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:110344434_110344434GA>G	uc001tpn.3	+	4	667	c.514_514GA>G	c.(514-516)gaafs	p.E172fs	TCHP_uc001tpo.1_Non-coding_Transcript|TCHP_uc001tpp.3_Frame_Shift_Del_p.E172fs	NM_001143852	NP_115676	Q9BT92	TCHP_HUMAN	Homo sapiens trichoplein, keratin filament binding (TCHP), transcript variant 2, mRNA.	172	Glu-rich.|Interaction with keratin proteins.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						GCAGAAAGAAGAAAAAAAACA	0.478												
ACAD10	80724	broad.mit.edu	37	12	112184008	112184008	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:112184007_112184007GA>G	uc009zvx.3	+	14	2468	c.2268_2268GA>G	c.(2266-2268)gagfs	p.E756fs	ACAD10_uc001tsp.3_Frame_Shift_Del_p.E725fs|ACAD10_uc001tsq.3_Frame_Shift_Del_p.E725fs|ACAD10_uc001tss.1_Non-coding_Transcript	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	725							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CTGATCCCGAGAAAAAATACG	0.468												
FBXO21	23014	broad.mit.edu	37	12	117624320	117624320	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:117624319_117624319CA>C	uc001twk.3	-	2	472	c.433_433TG>G	c.(433-435)gagfs	p.E145fs	FBXO21_uc001twj.3_Frame_Shift_Del_p.E145fs|FBXO21_uc009zwq.3_Frame_Shift_Del_p.E145fs	NM_033624	NP_296373	O94952	FBX21_HUMAN	Homo sapiens F-box protein 21 (FBXO21), transcript variant 1, mRNA.	145					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	p.F144fs*9(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		AGTTCATCCTCAAAAAAAATC	0.368												
CCDC62	84660	broad.mit.edu	37	12	123307941	123307941	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:123307940_123307940CA>C	uc001udc.3	+	11	2191	c.2029_2029CA>C	c.(2029-2031)caafs	p.Q677fs	CCDC62_uc010tah.2_Intron|CCDC62_uc001ude.3_Frame_Shift_Del_p.Q438fs|CCDC62_uc021rfn.1_Intron	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA.	677						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AGAGTCAGCTCAAAAAAATAC	0.353												
DNAH10	196385	broad.mit.edu	37	12	124257468	124257468	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr12:124257467_124257467GT>G	uc001uft.4	+	3	325	c.300_300GT>G	c.(298-300)gtgfs	p.V100fs		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	100	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	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)		AAAACGTGGTGTTTTTCCTCA	0.478												
TUBA3C	7278	broad.mit.edu	37	13	19752522	19752522	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:19752521_19752521TG>T	uc009zzj.3	-	2	345	c.240_240CA>A	c.(238-240)acafs	p.T80fs		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	80					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TATAGGTTCCTGTGCGCACTT	0.488												
MPHOSPH8	54737	broad.mit.edu	37	13	20220969	20220970	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:20220968_20220969C>CA	uc001umh.3	+	2	856_857	c.755_756C>CA	c.(754-756)acafs	p.T252fs	MPHOSPH8_uc001umg.3_Frame_Shift_Ins_p.T252fs|MPHOSPH8_uc001umi.3_5'UTR	NM_017520	NP_059990	Q99549	MPP8_HUMAN	Homo sapiens M-phase phosphoprotein 8 (MPHOSPH8), mRNA.	252	Lys-rich.				cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		aatagaaaaacaaaaaaagaaa	0.332												
SACS	26278	broad.mit.edu	37	13	23909127	23909127	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:23909126_23909126GA>G	uc001uon.2	-	9	9478	c.8889_8889TC>C	c.(8887-8889)ttcfs	p.F2963fs	SACS_uc001uoo.2_Frame_Shift_Del_p.F2816fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2963					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		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)		GGTTAACTGGGAAAAACGATA	0.368												
EXOSC8	11340	broad.mit.edu	37	13	37581201	37581201	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:37581200_37581200TA>T	uc001uwa.3	+	7	744	c.479_479TA>T	c.(478-480)ttafs	p.L160fs	EXOSC8_uc001uvz.2_Non-coding_Transcript	NM_181503	NP_852480	Q96B26	EXOS8_HUMAN	Homo sapiens exosome component 8 (EXOSC8), mRNA.	160					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		CTAGCGGCTTTAAAAAATGGT	0.373												
SETDB2	83852	broad.mit.edu	37	13	50065970	50065970	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:50065969_50065969GA>G	uc001vcz.3	+	14	3050	c.2144_2144GA>G	c.(2143-2145)agafs	p.R715fs	SETDB2_uc001vda.3_Frame_Shift_Del_p.R703fs	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	Homo sapiens SET domain, bifurcated 2 (SETDB2), transcript variant 1, mRNA.	715					cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		AATAAATGTAGAAAAAAAATA	0.373												
POU4F1	5457	broad.mit.edu	37	13	79175623	79175623	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:79175622_79175622CT>C	uc001vkv.3	-	1	1422	c.1188_1188AG>G	c.(1186-1188)aagfs	p.K396fs	BX647243_uc001vku.1_Intron	NM_006237	NP_006228	Q01851	PO4F1_HUMAN	Homo sapiens POU class 4 homeobox 1 (POU4F1), mRNA.	396					axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		GCACCACGTTCTTTTTGAGGT	0.627												
SLITRK1	114798	broad.mit.edu	37	13	84455509	84455509	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr13:84455508_84455508CT>C	uc001vlk.3	-	0	1021	c.135_135AG>G	c.(133-135)aagfs	p.K45fs		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	45	LRRNT.					integral to membrane		p.K45fs*64(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTGTGAAGCCCTTTTTTTCAC	0.463												
TOX4	9878	broad.mit.edu	37	14	21955823	21955823	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:21955822_21955822CG>C	uc001waz.3	+	2	391	c.288_288CG>C	c.(286-288)ggcfs	p.G96fs	TOX4_uc001way.3_5'UTR|TOX4_uc010tlu.2_Frame_Shift_Del_p.G73fs|TOX4_uc010tlv.2_Intron	NM_014828	NP_055643	O94842	TOX4_HUMAN	Homo sapiens TOX high mobility group box family member 4 (TOX4), mRNA.	96						PTW/PP1 phosphatase complex|chromatin|nucleus	DNA binding|protein binding	p.G96G(2)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TGGAGCAGGGCGGGGGGCTCC	0.562												
RBM23	55147	broad.mit.edu	37	14	23371030	23371030	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:23371029_23371029TG>T	uc001whg.3	-	12	1509	c.1310_1310CA>A	c.(1309-1311)cagfs	p.Q437fs	RBM23_uc001whh.3_Frame_Shift_Del_p.Q421fs|RBM23_uc001whi.3_Frame_Shift_Del_p.Q403fs|RBM23_uc010tne.2_Frame_Shift_Del_p.Q267fs|RBM23_uc001whj.3_Frame_Shift_Del_p.Q187fs	NM_001077351	NP_001070819	Q86U06	RBM23_HUMAN	Homo sapiens RNA binding motif protein 23 (RBM23), transcript variant 1, mRNA.	437					mRNA processing	nucleus	RNA binding|nucleotide binding	p.P436S(1)		endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TCACATGGTCTGGGGGGTAAA	0.502												
KIAA0586	9786	broad.mit.edu	37	14	59014534	59014534	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:59014533_59014533GC>G	uc010trr.2	+	33	5018	c.4774_4774GC>G	c.(4774-4776)gccfs	p.A1592fs	KIAA0586_uc001xdu.4_Frame_Shift_Del_p.M1495fs|KIAA0586_uc010trs.2_Frame_Shift_Del_p.M1425fs|KIAA0586_uc001xdt.4_Frame_Shift_Del_p.M1466fs|KIAA0586_uc001xdv.4_Frame_Shift_Del_p.M1434fs	NM_001244189	NP_001231118	E9PGW8	E9PGW8_HUMAN	Homo sapiens KIAA0586 (KIAA0586), transcript variant 1, mRNA.	0										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTCACAGATGCCCCCTGCCA	0.522												
MNAT1	4331	broad.mit.edu	37	14	61201664	61201667	+	Frame_Shift_Del	DEL	CACT	CACT	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:61201663_61201666ACACT>A	uc001xfd.3	+	0	205_208	c.83_86ACACT>A	c.(82-87)cacactfs	p.H28fs	MNAT1_uc010apq.2_Frame_Shift_Del_p.H28fs|MNAT1_uc001xfe.3_Frame_Shift_Del_p.H28fs	NM_002431	NP_002422	P51948	MAT1_HUMAN	Homo sapiens menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis) (MNAT1), transcript variant 1, mRNA.	28					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|cell proliferation|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|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	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		GTGTGCGGACACACTCTGTGAGTT	0.598								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)				
C14orf102	55051	broad.mit.edu	37	14	90759058	90759059	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:90759057_90759058TCA>T	uc001xyi.2	-	8	2058_2059	c.1825_1826TGA>A	c.(1825-1827)gagfs	p.E609fs	C14orf102_uc010atp.1_Frame_Shift_Del_p.E114fs|C14orf102_uc001xyj.2_Frame_Shift_Del_p.E378fs	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	609							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		CTCGGGATCCTCACAGTCTTCC	0.599												
GOLGA5	9950	broad.mit.edu	37	14	93273171	93273171	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:93273170_93273170AC>A	uc001yaz.1	+	2	816	c.634_634AC>A	c.(634-636)accfs	p.T212fs		NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Homo sapiens golgin A5 (GOLGA5), mRNA.	212					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|Rab GTPase binding|protein homodimerization activity|protein tyrosine kinase activity			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		CCCTGACCACACCCCAACACC	0.418			T	RET	papillary thyroid							
BTBD7	55727	broad.mit.edu	37	14	93709015	93709015	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:93709014_93709014GT>G	uc001ybo.3	-	10	3330	c.3004_3004AC>C	c.(3004-3006)cagfs	p.Q1002fs	BTBD7_uc010aur.3_Frame_Shift_Del_p.Q527fs|BTBD7_uc010two.2_Frame_Shift_Del_p.Q822fs|BTBD7_uc001ybp.3_Frame_Shift_Del_p.Q651fs	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	1002										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GCTTCTTCCTGTTTTTTAGGA	0.488												
BTBD7	55727	broad.mit.edu	37	14	93760502	93760502	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:93760501_93760501GA>G	uc001ybo.3	-	2	1191	c.865_865TC>C	c.(865-867)cgafs	p.R289fs	BTBD7_uc010aur.3_5'UTR|BTBD7_uc010two.2_Frame_Shift_Del_p.R204fs|BTBD7_uc001ybp.3_Intron|BTBD7_uc001ybq.4_Frame_Shift_Del_p.R204fs|BTBD7_uc001ybr.3_Frame_Shift_Del_p.R289fs	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	289	BTB 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AATAAATTTCGAAAAAATGGG	0.398												
DLK1	8788	broad.mit.edu	37	14	101200555	101200555	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:101200554_101200554GC>G	uc001yhs.4	+	4	677	c.473_473GC>G	c.(472-474)tgcfs	p.C158fs	DLK1_uc001yhu.4_Frame_Shift_Del_p.C158fs|DLK1_uc021sbs.1_5'Flank	NM_003836	NP_003827	P80370	DLK1_HUMAN	Homo sapiens delta-like 1 homolog (Drosophila) (DLK1), mRNA.	158	EGF-like 4.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				TCCTGCCTGTGCCCCCCTGGC	0.637												
BRF1	2972	broad.mit.edu	37	14	105693010	105693010	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr14:105693009_105693009AG>A	uc001yqp.2	-	7	1240	c.877_877CT>T	c.(877-879)tcgfs	p.S293fs	BRF1_uc010tyo.1_Frame_Shift_Del_p.S178fs|BRF1_uc010typ.1_Frame_Shift_Del_p.S178fs|BRF1_uc001yql.2_Frame_Shift_Del_p.S89fs|BRF1_uc001yqo.2_Frame_Shift_Del_p.S55fs|BRF1_uc010axg.1_Frame_Shift_Del_p.S266fs|BRF1_uc001yqn.2_Non-coding_Transcript|BRF1_uc010axh.1_Non-coding_Transcript|BRF1_uc010axj.1_Non-coding_Transcript	NM_001519	NP_663718	Q92994	TF3B_HUMAN	Homo sapiens BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae) (BRF1), transcript variant 1, mRNA.	293					positive regulation of transcription, DNA-dependent|rRNA transcription|tRNA transcription|transcription initiation from RNA polymerase III promoter	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	p.S293fs*11(1)		NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GCTGTGTACGAGGGGGGGTCG	0.582												
AVEN	57099	broad.mit.edu	37	15	34159952	34159953	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:34159951_34159952G>GC	uc001zhj.3	-	4	773_774	c.717_718C>GC	c.(715-720)gggcccfs	p.G239fs		NM_020371	NP_065104	Q9NQS1	AVEN_HUMAN	Homo sapiens apoptosis, caspase activation inhibitor (AVEN), mRNA.	239					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		TCAAAGATGGGCCCCCTTCCTC	0.545												
SPRED1	161742	broad.mit.edu	37	15	38614463	38614463	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:38614462_38614462TA>T	uc001zka.4	+	2	563	c.228_228TA>T	c.(226-228)cttfs	p.L76fs		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 1 (SPRED1), mRNA.	76	WH1.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		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)		AATGTATGCTTAAAAAAGACC	0.338									Legius syndrome			
MGA	23269	broad.mit.edu	37	15	42005395	42005396	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:42005394_42005395G>GC	uc010ucy.2	+	8	3311_3312	c.3130_3131G>GC	c.(3130-3132)gccfs	p.A1044fs	MGA_uc001zog.1_Frame_Shift_Ins_p.A1044fs|MGA_uc010ucz.2_Frame_Shift_Ins_p.A1044fs	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1044						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)		AAGGAAACGAGCCCCTCCCTGC	0.490												
TP53BP1	7158	broad.mit.edu	37	15	43748429	43748448	+	Frame_Shift_Del	DEL	CCCATGACTGGGAATCTGAG	CCCATGACTGGGAATCTGAG	-	rs150010105	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:43748428_43748447TCCCATGACTGGGAATCTGAG>T	uc001zrs.3	-	11	2492_2511	c.2344_2363CTCAGATTCCCAGTCATGGGA>A	c.(2344-2364)tcagattcccagtcatgggagfs	p.S782fs	TP53BP1_uc010udp.2_Frame_Shift_Del_p.S782fs|TP53BP1_uc001zrq.4_Frame_Shift_Del_p.S787fs|TP53BP1_uc001zrr.4_Frame_Shift_Del_p.S787fs|TP53BP1_uc010udq.1_Frame_Shift_Del_p.S787fs	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	782					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AGCAATATCCTCCCATGACTGGGAATCTGAGCACTTCTCC	0.441								Other conserved DNA damage response genes				
SHC4	399694	broad.mit.edu	37	15	49148280	49148282	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:49148279_49148281ATCT>A	uc001zxb.1	-	7	1540_1542	c.1111_1113AGAT>T	c.(1111-1113)gat>T	p.D371del	SHC4_uc010uey.1_In_Frame_Del_p.D128del|SHC4_uc010uez.1_In_Frame_Del_p.D85del	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) family, member 4 (SHC4), mRNA.	371	CH1.				intracellular signal transduction	cell junction|postsynaptic membrane		p.E370delE(2)		breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		AATATTCATGATCTTCTCTCTCC	0.448												
FBXL22	283807	broad.mit.edu	37	15	63889654	63889656	+	In_Frame_Del	DEL	CTC	CTC	-	rs141944790	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:63889653_63889655TCTC>T	uc002amn.3	+	0	102_104	c.44_46TCTC>T	c.(43-48)ttctcc>tTcc	p.S16del	LOC100130855_uc002amk.3_Intron|LOC100130855_uc002amj.3_Intron|FBXL22_uc002amm.2_In_Frame_Del_p.S16del	NM_203373	NP_976307	Q6P050	FXL22_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 22 (FBXL22), mRNA.	16	F-box.									lung(4)	4						CTGCACCTCTTCTCCTTCCTAGA	0.626												
HERC1	8925	broad.mit.edu	37	15	64005567	64005567	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:64005566_64005566AC>A	uc002amp.3	-	22	4597	c.4449_4449GT>T	c.(4447-4449)ggtfs	p.G1483fs	HERC1_uc010uil.1_Frame_Shift_Del_p.G467fs	NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	1483					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCATAAGTCCACCCCCTTCAG	0.433												
SCAPER	49855	broad.mit.edu	37	15	76726492	76726493	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:76726491_76726492A>AT	uc002bby.3	-	24	3297_3298	c.3238_3239T>AT	c.(3238-3240)atafs	p.I1080fs	SCAPER_uc010bkr.3_Frame_Shift_Ins_p.I388fs|SCAPER_uc002bbx.3_Frame_Shift_Ins_p.I834fs|SCAPER_uc002bbz.1_Frame_Shift_Ins_p.I951fs	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	1079						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CTGTGTTGGTATTTTTGGGGTA	0.431												
ANPEP	290	broad.mit.edu	37	15	90349638	90349639	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr15:90349637_90349638C>CG	uc002bop.4	-	1	469_470	c.177_178G>CG	c.(175-180)cccgccfs	p.P59fs		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	59	Cytosolic Ser/Thr-rich junction.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GTGGCCGAGGCGGGGTTGGTGG	0.614												
EME2	197342	broad.mit.edu	37	16	1825707	1825707	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:1825706_1825706AG>A	uc002cmq.1	+	5	953	c.953_953AG>A	c.(952-954)aagfs	p.K318fs	MRPS34_uc002cmo.3_5'Flank|MRPS34_uc021taj.1_5'Flank|EME2_uc010brw.1_Intron	NM_001010865	NP_001010865	A4GXA9	EME2_HUMAN	Homo sapiens essential meiotic endonuclease 1 homolog 2 (S. pombe) (EME2), mRNA.	267					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CCAAGGCTGAAGGGGGGCAGG	0.607								Direct reversal of damage;Homologous recombination				
HCFC1R1	54985	broad.mit.edu	37	16	3073266	3073266	+	Frame_Shift_Del	DEL	G	G	-	rs147841549	byFrequency	TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:3073265_3073265TG>T	uc002csx.1	-	3	383	c.250_250CA>A	c.(250-252)atgfs	p.M84fs	HCFC1R1_uc002csy.1_Frame_Shift_Del_p.M84fs|HCFC1R1_uc002csz.1_Frame_Shift_Del_p.M65fs|THOC6_uc002ctb.2_5'Flank|THOC6_uc002ctd.2_5'Flank|THOC6_uc002cta.2_5'Flank	NM_001002018	NP_060355	Q9NWW0	HPIP_HUMAN	Homo sapiens host cell factor C1 regulator 1 (XPO1 dependent) (HCFC1R1), transcript variant 3, mRNA.	84						cytoplasm|nucleus				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						GAGAAGGTCATGGGGGGGCTG	0.617												
ZNF500	26048	broad.mit.edu	37	16	4802777	4802778	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:4802776_4802777C>CGT	uc002cxp.1	-	5	1290_1291	c.1043_1044G>ACG	c.(1042-1044)acgfs	p.T348fs	ZNF500_uc002cxo.1_Frame_Shift_Ins_p.T140fs|ZNF500_uc010uxt.1_Frame_Shift_Ins_p.T348fs	NM_021646	NP_067678	O60304	ZN500_HUMAN	Homo sapiens zinc finger protein 500 (ZNF500), mRNA.	348					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						GCCGCTCGCCCGTGTGTGTGCG	0.614												
CLEC16A	23274	broad.mit.edu	37	16	11137920	11137920	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:11137919_11137919AT>A	uc021tcy.1	+	15	2035	c.1805_1805AT>A	c.(1804-1806)catfs	p.H602fs	CLEC16A_uc002dan.4_Frame_Shift_Del_p.H584fs|CLEC16A_uc002dao.3_Frame_Shift_Del_p.H600fs	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	602								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CTTGTACGACATTTTTATAAG	0.433												
NTAN1	123803	broad.mit.edu	37	16	15131990	15131990	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:15131989_15131989GT>G	uc002ddd.3	-	9	837	c.832_832AC>C	c.(832-834)cacfs	p.H278fs	PDXDC1_uc002ddc.3_Intron|NTAN1_uc010uzo.2_Frame_Shift_Del_p.H173fs	NM_173474	NP_775745	Q96AB6	NTAN1_HUMAN	Homo sapiens N-terminal asparagine amidase (NTAN1), mRNA.	278						cytoplasm		p.K277fs*>34(2)		endometrium(1)|large_intestine(4)|lung(3)	8						GGAGATGGGTGTTTTTTTAAA	0.413												
GTF3C1	2975	broad.mit.edu	37	16	27489822	27489822	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:27489821_27489821CT>C	uc002dov.2	-	27	4268	c.4228_4228AG>G	c.(4228-4230)gatfs	p.D1410fs	GTF3C1_uc002dou.3_Frame_Shift_Del_p.D1410fs	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1410						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						CTGGTTTGATCTTTTTCATCC	0.413												
CDH8	1006	broad.mit.edu	37	16	61687601	61687601	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:61687600_61687600TG>T	uc002eog.2	-	11	3267	c.2312_2312CA>A	c.(2311-2313)cagfs	p.Q771fs		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	771					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		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)		GTCAAAATTCTGGTCTGAGTC	0.507												
DPEP3	64180	broad.mit.edu	37	16	68012210	68012210	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr16:68012209_68012209AC>A	uc002evc.4	-	3	816	c.722_722GT>T	c.(721-723)gtgfs	p.V241fs	DPEP3_uc010cex.3_Frame_Shift_Del_p.V241fs	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	Homo sapiens dipeptidase 3 (DPEP3), transcript variant 1, mRNA.	216					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CAGGTAGCGCACCCCCAGCAC	0.567												
RAP1GAP2	23108	broad.mit.edu	37	17	2867323	2867323	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:2867322_2867322AG>A	uc010ckd.3	+	6	542	c.452_452AG>A	c.(451-453)aagfs	p.K151fs	RAP1GAP2_uc010cke.3_Frame_Shift_Del_p.K136fs	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	151					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CTCGAGTGCAAGGGTGAAGCC	0.637												
CYB5D2	124936	broad.mit.edu	37	17	4060253	4060253	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:4060252_4060252GC>G	uc002fxm.4	+	3	1259	c.671_671GC>G	c.(670-672)ggcfs	p.G224fs	CYB5D2_uc002fxl.4_Frame_Shift_Del_p.G112fs|CYB5D2_uc010cko.3_Frame_Shift_Del_p.G112fs	NM_144611	NP_001241685	Q8WUJ1	NEUFC_HUMAN	Homo sapiens cytochrome b5 domain containing 2 (CYB5D2), transcript variant 1, mRNA.	224					nervous system development	extracellular region	heme binding			breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						AGAACCACCGGCCCCCCTAGT	0.607											OREG0024097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
USP6	9098	broad.mit.edu	37	17	5072211	5072211	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:5072210_5072210AG>A	uc002gau.1	+	34	5607	c.3377_3377AG>A	c.(3376-3378)cagfs	p.Q1126fs	USP6_uc002gav.1_Frame_Shift_Del_p.Q1126fs|USP6_uc010ckz.1_Frame_Shift_Del_p.Q809fs	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	1126					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTCACACCCCAGGGGGATGAG	0.512			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts							
DNAH9	1770	broad.mit.edu	37	17	11711081	11711082	+	Frame_Shift_Ins	INS	-	-	G	rs151011026		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:11711080_11711081C>CG	uc002gne.3	+	43	8520_8521	c.8452_8453C>CG	c.(8452-8454)cggfs	p.R2818fs	DNAH9_uc010coo.3_Frame_Shift_Ins_p.R2112fs	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2818	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGAGTCCCCGCGGGGAAATGCT	0.520												
NEK8	284086	broad.mit.edu	37	17	27068996	27068996	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:27068995_27068995TC>T	uc002hcp.3	+	14	2069	c.2069_2069TC>T	c.(2068-2070)gtcfs	p.V690fs	TRAF4_uc002hcq.1_5'Flank|TRAF4_uc002hcs.3_5'Flank	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.	690						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GATGAGCCGGTCCCCCCCTGA	0.582												
PHF12	57649	broad.mit.edu	37	17	27233909	27233910	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:27233908_27233909T>TG	uc002hdg.1	-	13	3175_3176	c.2645_2646A>CA	c.(2644-2646)ccafs	p.P882fs	PHF12_uc010wbb.1_Frame_Shift_Ins_p.P864fs	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	882					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CAATACTGCTTGGGGGGGTTGG	0.510												
ATAD5	79915	broad.mit.edu	37	17	29196630	29196630	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:29196629_29196629GT>G	uc002hfs.1	+	13	3915	c.3572_3572GT>G	c.(3571-3573)tgtfs	p.C1191fs	ATAD5_uc002hft.1_Frame_Shift_Del_p.C1088fs	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	1191					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CAAAAACCCTGTTTTTTTAAT	0.353												
MYO19	80179	broad.mit.edu	37	17	34862341	34862341	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:34862340_34862340AG>A	uc010wcy.2	-	18	2744	c.1752_1752CT>T	c.(1750-1752)cctfs	p.P584fs	MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Intron|MYO19_uc010wcz.1_Non-coding_Transcript	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.	584	Myosin head-like.					mitochondrial outer membrane|myosin complex	ATP binding|actin binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TGCTCTGGCCAGGGGGTTCCT	0.587												
MSL1	339287	broad.mit.edu	37	17	38282534	38282535	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:38282533_38282534AAG>A	uc002hub.3	+	1	282_283	c.263_264AAG>A	c.(262-264)gaafs	p.E88fs	MSL1_uc002hua.4_Frame_Shift_Del_p.E26fs|MSL1_uc002huc.2_Frame_Shift_Del_p.E26fs|MSL1_uc021txa.1_5'Flank	NM_001012241	NP_001012241	Q68DK7	MSL1_HUMAN	Homo sapiens male-specific lethal 1 homolog (Drosophila) (MSL1), mRNA.	289	Pro-rich.				histone H4-K16 acetylation	MSL complex				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						TATGAAACTGAAGAGAGAGAGG	0.490												
ACLY	47	broad.mit.edu	37	17	40028082	40028083	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:40028081_40028082T>TC	uc002hyg.3	-	24	2960_2961	c.2797_2798A>GA	c.(2797-2799)gatfs	p.D933fs	ACLY_uc002hyh.3_Frame_Shift_Ins_p.D923fs|ACLY_uc002hyi.3_Frame_Shift_Ins_p.D987fs|ACLY_uc010wfx.2_Frame_Shift_Ins_p.D977fs|ACLY_uc010wfy.2_Frame_Shift_Ins_p.D662fs	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	933					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CCCAAACCGATCCCCCTGGAGG	0.525												
STAT5B	6777	broad.mit.edu	37	17	40362447	40362447	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:40362446_40362446GT>G	uc002hzh.3	-	13	1919	c.1750_1750AC>C	c.(1750-1752)catfs	p.H584fs		NM_012448	NP_036580	P51692	STA5B_HUMAN	Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA.	584					2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GGCTTGAGATGTTTTTTTAAC	0.428												
NFE2L1	4779	broad.mit.edu	37	17	46135788	46135788	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:46135787_46135787TG>T	uc002imz.4	+	5	1754	c.1103_1103TG>T	c.(1102-1104)ctgfs	p.L368fs	NFE2L1_uc002ina.4_Frame_Shift_Del_p.L338fs|NFE2L1_uc002inb.4_Frame_Shift_Del_p.L338fs|NFE2L1_uc010wle.2_Frame_Shift_Del_p.L180fs|NFE2L1_uc010wlf.2_Frame_Shift_Del_p.L212fs	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 1 (NFE2L1), mRNA.	368					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			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGGCGTCCCTGGGGGGCTGC	0.607												
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	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												
TBX2	6909	broad.mit.edu	37	17	59479234	59479234	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:59479233_59479233CG>C	uc010wox.2	+	1	865	c.584_584CG>C	c.(583-585)acgfs	p.T195fs	TBX2_uc002ize.3_Frame_Shift_Del_p.T185fs|TBX2_uc002izg.3_Frame_Shift_Del_p.T41fs	NM_005994	NP_005985	Q13207	TBX2_HUMAN	Homo sapiens T-box 2 (TBX2), mRNA.	195					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						AGCCCAGCCACGGGGGAGCAG	0.597												
MAP3K3	4215	broad.mit.edu	37	17	61759155	61759155	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr17:61759154_61759154TC>T	uc002jbg.3	+	6	850	c.531_531TC>T	c.(529-531)cctfs	p.P177fs	MAP3K3_uc002jbe.3_Frame_Shift_Del_p.P208fs|MAP3K3_uc002jbf.3_Frame_Shift_Del_p.P208fs|MAP3K3_uc002jbh.3_Frame_Shift_Del_p.P208fs|MAP3K3_uc010wpo.2_Frame_Shift_Del_p.P92fs|MAP3K3_uc010wpp.2_Frame_Shift_Del_p.P177fs	NM_002401	NP_002392	Q99759	M3K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 3 (MAP3K3), transcript variant 2, mRNA.	177					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						GAAGCTCACCTCCCCCTGGCT	0.617												
MYOM1	8736	broad.mit.edu	37	18	3142040	3142040	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:3142039_3142039CG>C	uc002klp.3	-	13	2257	c.1923_1923CG>G	c.(1921-1923)ccgfs	p.P641fs	MYOM1_uc002klq.3_Frame_Shift_Del_p.P641fs	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	641	Fibronectin type-III 2.					striated muscle myosin thick filament	structural constituent of muscle	p.P641Q(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGAGGTCTGTCGGGGGGCCAG	0.542												
GALNT1	2589	broad.mit.edu	37	18	33243635	33243635	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:33243634_33243634TG>T	uc010dmu.3	+	2	235	c.182_182TG>T	c.(181-183)atgfs	p.M61fs	GALNT1_uc002kyz.4_Frame_Shift_Del_p.M1fs|GALNT1_uc002kza.2_Frame_Shift_Del_p.M61fs|GALNT1_uc002kzb.3_Frame_Shift_Del_p.M61fs	NM_020474	NP_065207	Q10472	GALT1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) (GALNT1), mRNA.	61					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						CCTGGAGAAATGGGGAAACCA	0.353												
CDH19	28513	broad.mit.edu	37	18	64172527	64172527	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:64172526_64172526CA>C	uc002lkc.1	-	11	1980	c.1842_1842TG>G	c.(1840-1842)ttgfs	p.L614fs	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Frame_Shift_Del_p.*491fs	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	614					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				AACCCAAAGTCAAAAAAATAA	0.323												
RTTN	25914	broad.mit.edu	37	18	67781838	67781838	+	Splice_Site	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr18:67781837_67781837TA>T	uc002lkp.2	-	27	3597	c.3529_splice	c.e27-1	p.S1177_splice	RTTN_uc002lko.2_Splice_Site|RTTN_uc010xfb.1_Splice_Site_p.S265_splice	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	1177							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GTTTGCACTCTAAAAAATGAA	0.358												
TMEM38A	79041	broad.mit.edu	37	19	16790890	16790890	+	Frame_Shift_Del	DEL	G	G	-	rs113811779		TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:16790889_16790889TG>T	uc002nes.3	+	1	310	c.219_219TG>T	c.(217-219)cttfs	p.L73fs		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	Homo sapiens transmembrane protein 38A (TMEM38A), mRNA.	73						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						ATCTGCTCCTTGGGGAGCCAC	0.617												
ZNF43	7594	broad.mit.edu	37	19	22002026	22002026	+	Splice_Site	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	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												
BCKDHA	593	broad.mit.edu	37	19	41919965	41919967	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:41919964_41919966CCTT>C	uc002oqq.3	+	3	425_427	c.386_388CCTT>C	c.(385-390)tccttc>tCtc	p.F130del	BCKDHA_uc002oqm.4_In_Frame_Del_p.F164del|BCKDHA_uc002oqp.2_In_Frame_Del_p.F22del|BCKDHA_uc002oqr.3_In_Frame_Del_p.F130del|BCKDHA_uc010xvz.2_In_Frame_Del_p.F108del	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	130					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GGCCGGATCTCCTTCTACATGAC	0.611												
IZUMO1	284359	broad.mit.edu	37	19	49244679	49244679	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:49244678_49244678TC>T	uc002pkj.3	-	8	1360	c.812_812GA>A	c.(811-813)gagfs	p.E271fs	RASIP1_uc002pki.3_5'Flank|IZUMO1_uc010eme.3_Non-coding_Transcript|IZUMO1_uc010emf.3_Non-coding_Transcript	NM_182575	NP_872381	Q8IYV9	IZUM1_HUMAN	Homo sapiens izumo sperm-egg fusion 1 (IZUMO1), mRNA.	271					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CGTGGTCGCCTCCCCCGGGGT	0.572												
MBOAT7	79143	broad.mit.edu	37	19	54678002	54678002	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:54678001_54678001GC>G	uc002qdq.3	-	8	1422	c.1156_1156GC>C	c.(1156-1158)cggfs	p.R386fs	TMC4_uc002qdo.3_5'Flank|TMC4_uc010erf.3_5'Flank|MBOAT7_uc010erg.3_Frame_Shift_Del_p.R70fs|MBOAT7_uc010yem.2_Frame_Shift_Del_p.R368fs|MBOAT7_uc002qdr.3_Frame_Shift_Del_p.R386fs|MBOAT7_uc002qds.3_Frame_Shift_Del_p.R313fs|MBOAT7_uc010yen.2_Frame_Shift_Del_p.R313fs	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 7 (MBOAT7), transcript variant 1, mRNA.	386					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGGCTCAGCCGCCCCCGCAGG	0.672												
LENG9	94059	broad.mit.edu	37	19	54973946	54973946	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr19:54973945_54973945GC>G	uc010yez.2	-	0	950	c.831_831GC>C	c.(829-831)ggcfs	p.G277fs		NM_198988	NP_945339	Q96B70	LENG9_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 9 (LENG9), mRNA.	277					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GTGCTTCCTTGCCCCCCAGCA	0.662												
SLC23A2	9962	broad.mit.edu	37	20	4837735	4837736	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:4837734_4837735A>AT	uc002wlg.1	-	16	2211_2212	c.1836_1837T>AT	c.(1834-1839)aaatacfs	p.K612fs	SLC23A2_uc010zqr.1_Frame_Shift_Ins_p.K497fs|SLC23A2_uc002wlh.1_Frame_Shift_Ins_p.K612fs	NM_005116	NP_976072	Q9UGH3	S23A2_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 2 (SLC23A2), transcript variant 1, mRNA.	612					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	p.K612fs*>39(2)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AAGCATCTGTATTTTTTTATAA	0.475												
ZNF341	84905	broad.mit.edu	37	20	32344991	32344991	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:32344990_32344990AC>A	uc002wzy.3	+	5	798	c.778_778AC>A	c.(778-780)accfs	p.T260fs	ZNF341_uc002wzx.3_Frame_Shift_Del_p.T260fs|ZNF341_uc010geq.3_Frame_Shift_Del_p.T170fs|ZNF341_uc010ger.3_Non-coding_Transcript	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						AGTATATCCCACCCCCACAGT	0.622												
RPRD1B	58490	broad.mit.edu	37	20	36694647	36694647	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:36694646_36694646GA>G	uc002xho.4	+	5	1221	c.819_819GA>G	c.(817-819)gagfs	p.E273fs	RPRD1B_uc002xhp.4_Non-coding_Transcript	NM_021215	NP_067038	Q9NQG5	RPR1B_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 1B (RPRD1B), mRNA.	273										endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						CGGAGAAGGAGAAAAAACTAG	0.488												
SALL4	57167	broad.mit.edu	37	20	50400983	50400983	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:50400982_50400982AC>A	uc002xwh.4	-	3	3085	c.2984_2984GT>T	c.(2983-2985)gttfs	p.V995fs	SALL4_uc010gii.3_Frame_Shift_Del_p.V558fs|SALL4_uc002xwi.4_Frame_Shift_Del_p.V218fs	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	995					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGGGTAGGAACCCCCCCACT	0.562												
PCMTD2	55251	broad.mit.edu	37	20	62895852	62895854	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr20:62895851_62895853ACTT>A	uc002yil.4	+	2	577_579	c.377_379ACTT>A	c.(376-381)gacttc>gAtc	p.F128del	PCMTD2_uc002yim.4_In_Frame_Del_p.F128del	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 (PCMTD2), transcript variant 1, mRNA.	128						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CAGAAACTGGACTTCTTCATCAG	0.360												
USP25	29761	broad.mit.edu	37	21	17191019	17191019	+	Splice_Site	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr21:17191018_17191018TA>T	uc011aby.1	+	10	1149	c.932_splice	c.e10-1	p.G311_splice	USP25_uc002yjz.1_Splice_Site_p.G311_splice|USP25_uc010gla.1_Intron|USP25_uc002yjy.1_Splice_Site_p.G311_splice	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	311					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TTCTTATAGGTAAAAAATTTG	0.368												
PRDM15	63977	broad.mit.edu	37	21	43274764	43274764	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr21:43274763_43274763CG>C	uc002yzq.1	-	11	1659	c.1548_1548CG>G	c.(1546-1548)ccgfs	p.P516fs	PRDM15_uc002yzo.3_Frame_Shift_Del_p.P187fs|PRDM15_uc002yzp.3_Frame_Shift_Del_p.P187fs|PRDM15_uc002yzr.1_Frame_Shift_Del_p.P187fs	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	516	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GCTCGGTACCCGGGGGGATGT	0.652												
DIP2A	23181	broad.mit.edu	37	21	47975905	47975905	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr21:47975904_47975904CA>C	uc002zjo.2	+	28	3581	c.3398_3398CA>C	c.(3397-3399)ccafs	p.P1133fs	DIP2A_uc011afy.1_Frame_Shift_Del_p.P1069fs|DIP2A_uc011afz.1_Frame_Shift_Del_p.P1129fs|DIP2A_uc002zjr.3_Frame_Shift_Del_p.P100fs	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	1133					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GATGACATCCCAAAAAAGAAG	0.498												
SLC25A1	6576	broad.mit.edu	37	22	19164720	19164721	+	Splice_Site	DEL	GA	GA	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:19164719_19164720TGA>T	uc021wlb.1	-	4	468	c.463_splice	c.e4-1	p.V155_splice	SLC25A1_uc002zoy.3_Splice_Site_p.V45_splice|SLC25A1_uc002zoz.3_Splice_Site_p.V148_splice	NM_005984	NP_005975	P53007	TXTP_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 (SLC25A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	148					gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process	integral to membrane|mitochondrial inner membrane	citrate transmembrane transporter activity|protein binding			cervix(1)|lung(1)	2	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		GAACTTCACCTGAGAGAGAGAA	0.604												
SMARCB1	6598	broad.mit.edu	37	22	24134057	24134057	+	Splice_Site	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:24134056_24134056TA>T	uc002zyd.3	+	2	412	c.205_splice	c.e2+2	p.D69_splice	SMARCB1_uc002zyg.2_Frame_Shift_Del_p.G69fs|SMARCB1_uc011ajb.1_Splice_Site_p.D69_splice|SMARCB1_uc002zya.3_Frame_Shift_Del_p.G69fs|SMARCB1_uc002zyb.3_Frame_Shift_Del_p.G69fs|SMARCB1_uc002zyc.3_Splice_Site_p.D69_splice|SMARCB1_uc002zye.1_Frame_Shift_Del_p.G32fs|SMARCB1_uc002zyf.1_Splice_Site|SMARCB1_uc010gue.1_Splice_Site	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	78					DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.?(2)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CGTCACATGGTAAAAAAACAA	0.438			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid						
SLC2A11	66035	broad.mit.edu	37	22	24226083	24226083	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:24226082_24226082TG>T	uc011ajc.1	+	8	1517	c.1027_1027TG>T	c.(1027-1029)tggfs	p.W343fs	SLC2A11_uc002zyl.1_3'UTR|SLC2A11_uc002zym.4_Intron|SLC2A11_uc002zyn.4_Intron|SLC2A11_uc002zyo.4_Intron|SLC2A11_uc002zyp.4_Intron			Q9BYW1	GTR11_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 11 (SLC2A11), transcript variant 1, mRNA.	345						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GGATGAGGGCTGGGGGGTCCA	0.667												
MB	4151	broad.mit.edu	37	22	36003418	36003418	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chr22:36003417_36003417GC>G	uc003anz.3	-	2	472	c.392_392GC>C	c.(391-393)gccfs	p.A131fs	MB_uc003aoa.3_Frame_Shift_Del_p.A131fs|MB_uc003aob.3_Frame_Shift_Del_p.A131fs	NM_005368	NP_976312	P02144	MYG_HUMAN	Homo sapiens myoglobin (MB), transcript variant 1, mRNA.	131							heme binding|oxygen transporter activity			lung(1)	1						CTTGTTCATGGCCCCCTGGGC	0.607												
MAGEE1	57692	broad.mit.edu	37	X	75650343	75650343	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:75650342_75650342GA>G	uc004ecm.2	+	0	2297	c.2019_2019GA>G	c.(2017-2019)gcgfs	p.A673fs		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	673	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						AGTTCATGGCGAAAATATATA	0.463												
FAM133A	286499	broad.mit.edu	37	X	92964950	92964950	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:92964949_92964949CA>C	uc022bzw.1	+	2	968	c.531_531CA>C	c.(529-531)agcfs	p.S177fs	FAM133A_uc022bzu.1_Frame_Shift_Del_p.S177fs|FAM133A_uc004efr.2_Frame_Shift_Del_p.S177fs|FAM133A_uc022bzv.1_Frame_Shift_Del_p.S177fs|FAM133A_uc022bzx.1_Frame_Shift_Del_p.S177fs	NM_001171111	NP_775969	Q8N9E0	F133A_HUMAN	Homo sapiens family with sequence similarity 133, member A (FAM133A), transcript variant 4, mRNA.	177	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						GAAGCCTCAGCAAAAAAAGAA	0.363												
DCX	1641	broad.mit.edu	37	X	110644445	110644445	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:110644444_110644444TG>T	uc004epd.3	-	2	894	c.722_722CA>A	c.(721-723)cagfs	p.Q241fs	DCX_uc011msv.2_Frame_Shift_Del_p.Q241fs|DCX_uc004epe.3_Frame_Shift_Del_p.Q160fs|DCX_uc004epf.3_Frame_Shift_Del_p.Q160fs|DCX_uc004epg.3_Frame_Shift_Del_p.Q160fs	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	241					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AGCCAAGGACTGGGGGGCTTT	0.507												
FGF13	2258	broad.mit.edu	37	X	137939823	137939823	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4201-01A-01D-1126-08	TCGA-BR-4201-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf40f330-fe61-46ba-9b96-ad011d85bb21	7966b3b9-707d-40ce-9895-151824d97ea7	g.chrX:137939822_137939822AG>A	uc004faq.3	-	1	245	c.69_69CT>T	c.(67-69)cctfs	p.P23fs	FGF13_uc011mwi.2_5'UTR|FGF13_uc004far.3_5'UTR|FGF13_uc011mwj.2_Frame_Shift_Del_p.P23fs|FGF13_uc011mwk.2_Intron	NM_001139502	NP_001132974	Q92913	FGF13_HUMAN	Homo sapiens fibroblast growth factor 13 (FGF13), transcript variant 5, mRNA.	0					MAPKKK cascade|cell-cell signaling|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					CCTGTGTGCCAGGGGGGGCGT	0.428												
