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
UBE2J2	118424	broad.mit.edu	37	1	1190730	1190730	+	Silent	SNP	C	C	A	rs139942147		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:1190730C>A	uc001adn.2	-	7	943	c.633G>T	c.(631-633)GGG>GGT	p.G211G	UBE2J2_uc001adm.2_Silent_p.G176G|UBE2J2_uc001ado.2_Silent_p.G227G|UBE2J2_uc001adp.2_Silent_p.G211G|UBE2J2_uc001adq.2_Silent_p.G159G|UBE2J2_uc001adr.2_Silent_p.G159G|UBE2J2_uc001ads.2_Silent_p.G159G	NM_194458	NP_919440	Q8N2K1	UB2J2_HUMAN	ubiquitin conjugating enzyme E2, J2 isoform 3	211	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		TTGGGACGGCCCCCGGCGCAT	0.647												
PRKCZ	5590	broad.mit.edu	37	1	2103590	2103590	+	Silent	SNP	G	G	A	rs148343947		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:2103590G>A	uc001aiq.2	+	12	1319	c.1158G>A	c.(1156-1158)GCG>GCA	p.A386A	PRKCZ_uc001air.2_Silent_p.A203A|PRKCZ_uc010nyw.1_Silent_p.A282A|PRKCZ_uc001ais.2_Silent_p.A203A|PRKCZ_uc009vla.2_Silent_p.A210A|PRKCZ_uc010nyx.1_RNA|PRKCZ_uc001ait.2_Silent_p.A234A	NM_002744	NP_002735	Q05513	KPCZ_HUMAN	protein kinase C, zeta isoform 1	386	Protein kinase.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(2)	6	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		TCCTGGATGCGGACGGGCACA	0.632												
ACTRT2	140625	broad.mit.edu	37	1	2938800	2938800	+	Missense_Mutation	SNP	G	G	A	rs147956405	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:2938800G>A	uc001ajz.2	+	1	755	c.550G>A	c.(550-552)GTG>ATG	p.V184M		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	actin-related protein M2	184						cytoplasm|cytoskeleton					0	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CAAGCTCCACGTGGCGGGCAG	0.647												
PRDM16	63976	broad.mit.edu	37	1	3319548	3319548	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:3319548C>T	uc001akf.2	+	6	950	c.870C>T	c.(868-870)TTC>TTT	p.F290F	PRDM16_uc001akc.2_Silent_p.F290F|PRDM16_uc001akd.2_Silent_p.F290F|PRDM16_uc001ake.2_Silent_p.F290F|PRDM16_uc009vlh.2_5'UTR	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	290	C2H2-type 2.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGCGGATGTTCCCCAACAAGT	0.453			T	EVI1	MDS|AML							
NPHP4	261734	broad.mit.edu	37	1	5933359	5933359	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:5933359C>T	uc001alq.1	-	23	3534	c.3268G>A	c.(3268-3270)GCC>ACC	p.A1090T		NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	1090					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGACACGGCGTCCATGCCC	0.587												
CLSTN1	22883	broad.mit.edu	37	1	9795564	9795564	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:9795564G>A	uc001aqh.2	-	13	2603	c.1844C>T	c.(1843-1845)ACG>ATG	p.T615M	CLSTN1_uc001aqi.2_Missense_Mutation_p.T605M|CLSTN1_uc010oag.1_Missense_Mutation_p.T596M|CLSTN1_uc001aqf.2_5'Flank	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	615	Extracellular (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-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;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		AATTCCGGGCGTGGGGAACTG	0.507												
CLSTN1	22883	broad.mit.edu	37	1	9811549	9811549	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:9811549A>G	uc001aqh.2	-	5	1390	c.631T>C	c.(631-633)TTT>CTT	p.F211L	CLSTN1_uc001aqi.2_Missense_Mutation_p.F201L|CLSTN1_uc010oag.1_Missense_Mutation_p.F211L	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	211	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-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;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TCAACAGTAAAGGGCACGTCT	0.527												
CLSTN1	22883	broad.mit.edu	37	1	9833363	9833363	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:9833363C>T	uc001aqh.2	-	2	940	c.181G>A	c.(181-183)GCG>ACG	p.A61T	CLSTN1_uc001aqi.2_Missense_Mutation_p.A61T|CLSTN1_uc010oag.1_Missense_Mutation_p.A61T	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	61	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-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;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TTATCCAGCGCGATCAGTGGG	0.542												
PTCHD2	57540	broad.mit.edu	37	1	11589888	11589888	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:11589888G>A	uc001ash.3	+	15	3112	c.2974G>A	c.(2974-2976)GTG>ATG	p.V992M		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	992	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.V1209M(1)		skin(3)|ovary(2)|pancreas(1)|breast(1)	7	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)		CAACCCCTGCGTGAACACGGG	0.642												
MFN2	9927	broad.mit.edu	37	1	12061540	12061540	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:12061540G>A	uc001atn.3	+	9	1352	c.899G>A	c.(898-900)CGC>CAC	p.R300H	MFN2_uc009vni.2_Missense_Mutation_p.R300H	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	300	Cytoplasmic (Potential).				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GCCGGGGACCGCATCTTCTTT	0.567												
PRDM2	7799	broad.mit.edu	37	1	14106911	14106911	+	Missense_Mutation	SNP	C	C	T	rs145695645		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:14106911C>T	uc001avi.2	+	8	3477	c.2621C>T	c.(2620-2622)ACG>ATG	p.T874M	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.T874M|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.T673M|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	874						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)		GTGCAGCCTACGTGTAGTGCT	0.428												
TMEM51	55092	broad.mit.edu	37	1	15546202	15546202	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:15546202T>A	uc001avw.3	+	4	1244	c.725T>A	c.(724-726)GTC>GAC	p.V242D	TMEM51_uc010obk.1_Missense_Mutation_p.V242D|TMEM51_uc001avz.2_3'UTR|TMEM51_uc001avy.2_Missense_Mutation_p.V242D|TMEM51_uc001avx.2_Missense_Mutation_p.V242D	NM_001136216	NP_001129688	Q9NW97	TMM51_HUMAN	transmembrane protein 51	242						integral to membrane					0		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		TATGATGAAGTCCAGGAGAAG	0.562												
SPEN	23013	broad.mit.edu	37	1	16261327	16261327	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:16261327G>A	uc001axk.1	+	11	8796	c.8592G>A	c.(8590-8592)TCG>TCA	p.S2864S	SPEN_uc010obp.1_Silent_p.S2823S	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2864	Interaction with RBPSUH (By similarity).				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)		TCACAGCATCGCAGCCTCCAT	0.562												
NECAP2	55707	broad.mit.edu	37	1	16774560	16774560	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:16774560C>T	uc001ayo.2	+	4	394	c.304C>T	c.(304-306)CGG>TGG	p.R102W	NECAP2_uc001ayp.3_RNA|NECAP2_uc010ocd.1_Missense_Mutation_p.R76W|NECAP2_uc001ayq.2_Missense_Mutation_p.R102W	NM_018090	NP_060560	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2 isoform 1	102					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane					0		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAGGGCGACGGGCGTTTAT	0.527												
UBR4	23352	broad.mit.edu	37	1	19465685	19465685	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:19465685C>T	uc001bbi.2	-	59	8627	c.8623G>A	c.(8623-8625)GCA>ACA	p.A2875T	UBR4_uc001bbk.1_Missense_Mutation_p.A522T	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2875					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCTGTCGCTGCTGTACTGCCC	0.483												
HNRNPR	10236	broad.mit.edu	37	1	23640194	23640194	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:23640194A>G	uc001bgr.3	-	9	1178	c.1019T>C	c.(1018-1020)GTA>GCA	p.V340A	HNRNPR_uc001bgo.2_5'Flank|HNRNPR_uc001bgp.3_Missense_Mutation_p.V343A|HNRNPR_uc009vqk.2_Missense_Mutation_p.V242A|HNRNPR_uc001bgs.3_Missense_Mutation_p.V239A|HNRNPR_uc010odw.1_Missense_Mutation_p.V302A|HNRNPR_uc010odx.1_Missense_Mutation_p.V180A|HNRNPR_uc009vql.2_Missense_Mutation_p.V201A	NM_005826	NP_005817	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	340						catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CAAAACTTTTACCTAGTAAGC	0.338												
MYOM3	127294	broad.mit.edu	37	1	24416564	24416564	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:24416564C>T	uc001bin.3	-	13	1640	c.1477G>A	c.(1477-1479)GCT>ACT	p.A493T	MYOM3_uc001bim.3_Missense_Mutation_p.A150T|MYOM3_uc001bio.2_Missense_Mutation_p.A493T|MYOM3_uc001bip.1_Missense_Mutation_p.A150T	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	493										skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CCTTCAAAAGCGTCTGTGCTG	0.552												
EPB41	2035	broad.mit.edu	37	1	29342251	29342251	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:29342251C>T	uc001brm.1	+	5	884	c.877C>T	c.(877-879)CCA>TCA	p.P293S	EPB41_uc001brg.1_Missense_Mutation_p.P84S|EPB41_uc001brh.1_Missense_Mutation_p.P84S|EPB41_uc001bri.1_Missense_Mutation_p.P258S|EPB41_uc001brj.1_Missense_Mutation_p.P84S|EPB41_uc009vtk.1_Missense_Mutation_p.P258S|EPB41_uc001brk.2_Missense_Mutation_p.P293S|EPB41_uc001brl.1_Missense_Mutation_p.P293S|EPB41_uc009vtl.1_Missense_Mutation_p.P84S|EPB41_uc009vtm.1_5'UTR	NM_203342	NP_976217	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	293	FERM.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			ovary(1)	1		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		TCCACCTGACCCAGCACAGTT	0.274												
PEF1	553115	broad.mit.edu	37	1	32096261	32096261	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:32096261G>A	uc001bth.1	-	5	820	c.808C>T	c.(808-810)CTC>TTC	p.L270F	HCRTR1_uc010ogl.1_Intron|PEF1_uc001bte.1_3'UTR|PEF1_uc001btf.1_Missense_Mutation_p.L109F|PEF1_uc001btg.1_Missense_Mutation_p.L200F	NM_012392	NP_036524	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	270	EF-hand 5.|Required for interaction with PDCD6.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity				0		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		TCGAAGCTGAGCCGAATGTTG	0.567												
COL16A1	1307	broad.mit.edu	37	1	32164183	32164183	+	Silent	SNP	C	C	T	rs76478494	by1000genomes	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:32164183C>T	uc001btk.1	-	5	656	c.291G>A	c.(289-291)CCG>CCA	p.P97P	COL16A1_uc001btj.1_5'UTR|COL16A1_uc001btl.3_Silent_p.P97P	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	97	TSP N-terminal.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CAAACTCCTCCGGGAGACCCC	0.567												
BAI2	576	broad.mit.edu	37	1	32205538	32205538	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:32205538G>A	uc001btn.2	-	14	2510	c.2156C>T	c.(2155-2157)ACA>ATA	p.T719I	BAI2_uc010ogo.1_Missense_Mutation_p.T361I|BAI2_uc010ogp.1_Missense_Mutation_p.T652I|BAI2_uc010ogq.1_Missense_Mutation_p.T719I|BAI2_uc001bto.2_Missense_Mutation_p.T719I|BAI2_uc001btq.1_Missense_Mutation_p.T652I|BAI2_uc010ogr.1_Silent_p.H528H	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	719	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TAGATTATCTGTGACAATCAG	0.537												
NCDN	23154	broad.mit.edu	37	1	36030950	36030950	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:36030950T>C	uc001bza.2	+	8	2003	c.1876T>C	c.(1876-1878)TAT>CAT	p.Y626H	NCDN_uc001bzb.2_Missense_Mutation_p.Y626H|NCDN_uc001bzc.2_Missense_Mutation_p.Y609H	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN	neurochondrin isoform 1	626					neuron projection development	cytosol|dendrite|neuronal cell body				large_intestine(2)|pancreas(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTCCCCTGAGTATGAGGGCAT	0.677												
MEAF6	64769	broad.mit.edu	37	1	37961520	37961520	+	Splice_Site	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:37961520C>T	uc001cbg.1	-	6	551	c.534_splice	c.e6-1	p.R178_splice	MEAF6_uc001cbd.1_Splice_Site_p.R156_splice|MEAF6_uc001cbe.1_Splice_Site_p.E188_splice|MEAF6_uc009vvd.1_Splice_Site|MEAF6_uc001cbf.1_Splice_Site|MEAF6_uc001cbh.1_Intron	NM_022756	NP_073593	Q9HAF1	EAF6_HUMAN	MYST/Esa1-associated factor 6						histone H2A acetylation|histone H3-K14 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|NuA4 histone acetyltransferase complex|nucleolus	protein binding				0						CAGATCAATCCTGTGACAGAA	0.358												
GNL2	29889	broad.mit.edu	37	1	38059433	38059433	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:38059433C>T	uc001cbk.2	-	2	242	c.79G>A	c.(79-81)GCA>ACA	p.A27T	GNL2_uc010oif.1_5'UTR|GNL2_uc009vve.2_Missense_Mutation_p.A27T	NM_013285	NP_037417	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2	27					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)				TGGCCTCCTGCTCCCTGCACT	0.483												
UTP11L	51118	broad.mit.edu	37	1	38484942	38484942	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:38484942G>A	uc001ccn.3	+	6	545	c.454G>A	c.(454-456)GCA>ACA	p.A152T	UTP11L_uc009vvm.2_Missense_Mutation_p.A83T|UTP11L_uc010oil.1_Intron|UTP11L_uc001cco.3_Missense_Mutation_p.A83T	NM_016037	NP_057121	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar	152					induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTTTGATGTCGCAACTCACCT	0.448												
SMAP2	64744	broad.mit.edu	37	1	40872413	40872413	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:40872413C>T	uc001cfj.2	+	2	174	c.109C>T	c.(109-111)CGA>TGA	p.R37*	SMAP2_uc010ojh.1_Nonsense_Mutation_p.R37*|SMAP2_uc001cfk.2_Nonsense_Mutation_p.R7*|SMAP2_uc010oji.1_5'UTR	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	37	C4-type.|Arf-GAP.				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			CACAGGGCCGCGATGGGCCTC	0.433												
SMAP2	64744	broad.mit.edu	37	1	40874380	40874380	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:40874380C>A	uc001cfj.2	+	3	358	c.293C>A	c.(292-294)CCT>CAT	p.P98H	SMAP2_uc010ojh.1_Missense_Mutation_p.P98H|SMAP2_uc001cfk.2_Missense_Mutation_p.P68H|SMAP2_uc010oji.1_Missense_Mutation_p.P15H	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	98	Arf-GAP.				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			GCCTATCTTCCTGAGACCTTT	0.458												
FOXJ3	22887	broad.mit.edu	37	1	42693608	42693608	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:42693608C>T	uc001che.2	-	7	786	c.474G>A	c.(472-474)CCG>CCA	p.P158P	FOXJ3_uc001chf.2_Silent_p.P158P|FOXJ3_uc001chg.2_Silent_p.P158P|FOXJ3_uc001chh.1_Silent_p.P158P	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	158	Fork-head.				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)	2	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CATCTTCCTTCGGATTGGTGT	0.373												
SLC2A1	6513	broad.mit.edu	37	1	43396302	43396302	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:43396302C>T	uc001cik.2	-	4	1036	c.511G>A	c.(511-513)GCC>ACC	p.A171T		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose	171	Helical; Name=5; (Potential).				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CTTACCTGGGCGATGAGGATG	0.642												
TIE1	7075	broad.mit.edu	37	1	43779013	43779013	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:43779013C>T	uc001ciu.2	+	13	2214	c.2135C>T	c.(2134-2136)ACG>ATG	p.T712M	TIE1_uc010okd.1_Missense_Mutation_p.T712M|TIE1_uc010oke.1_Missense_Mutation_p.T667M|TIE1_uc009vwq.2_Missense_Mutation_p.T668M|TIE1_uc010okf.1_Missense_Mutation_p.T357M|TIE1_uc010okg.1_Missense_Mutation_p.T357M	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	712	Fibronectin type-III 3.|Extracellular (Potential).				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AACGCCAGCACGCGCTACCTC	0.647												
SLC6A9	6536	broad.mit.edu	37	1	44476464	44476464	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:44476464C>T	uc001cll.2	-	3	532	c.340G>A	c.(340-342)GTG>ATG	p.V114M	SLC6A9_uc009vxe.2_Translation_Start_Site|SLC6A9_uc010okm.1_Missense_Mutation_p.V41M|SLC6A9_uc001clm.2_Missense_Mutation_p.V60M|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.V60M|SLC6A9_uc001cln.2_Missense_Mutation_p.V41M|SLC6A9_uc010oko.1_Intron|SLC6A9_uc010okp.1_Intron	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	114	Helical; Name=1; (Potential).					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GCATAGCCCACGCTCGTCAGT	0.627												
EIF2B3	8891	broad.mit.edu	37	1	45407285	45407285	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:45407285T>G	uc001cmt.1	-	4	474	c.347A>C	c.(346-348)GAG>GCG	p.E116A	EIF2B3_uc001cmu.1_Missense_Mutation_p.E116A|EIF2B3_uc001cmv.1_Missense_Mutation_p.E116A|EIF2B3_uc001cmw.2_Missense_Mutation_p.E116A	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B,	116					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					GTCCACAACCTCATGTAAGGC	0.418												
HECTD3	79654	broad.mit.edu	37	1	45473964	45473964	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:45473964T>C	uc009vxk.2	-	9	1366	c.1268A>G	c.(1267-1269)CAC>CGC	p.H423R	HECTD3_uc001cmx.3_5'Flank|HECTD3_uc001cmy.3_Missense_Mutation_p.H33R|HECTD3_uc010olh.1_Missense_Mutation_p.H139R	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	HECT domain containing 3	423					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity				0	Acute lymphoblastic leukemia(166;0.155)					TACCAGGTGGTGCAGGACACT	0.527												
CYP4B1	1580	broad.mit.edu	37	1	47283696	47283696	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:47283696C>T	uc001cqm.3	+	10	1348	c.1264C>T	c.(1264-1266)CCT>TCT	p.P422S	CYP4B1_uc001cqn.3_Missense_Mutation_p.P423S|CYP4B1_uc009vym.2_Missense_Mutation_p.P408S|CYP4B1_uc010omk.1_Missense_Mutation_p.P259S	NM_000779	NP_000770	P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B,	422					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)					ATGGCCCGACCCTGAGGTACC	0.582												
PODN	127435	broad.mit.edu	37	1	53547667	53547667	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:53547667C>T	uc001cuv.2	+	10	1827	c.1820C>T	c.(1819-1821)GCT>GTT	p.A607V	PODN_uc001cuw.2_Missense_Mutation_p.A588V|PODN_uc010onr.1_Missense_Mutation_p.A588V|PODN_uc010ons.1_Missense_Mutation_p.A465V	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	podocan	559	LRR 19.				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			ovary(1)|pancreas(1)	2						AACAAGCTGGCTGTGGGCTCC	0.572												
SLC1A7	6512	broad.mit.edu	37	1	53580635	53580635	+	Missense_Mutation	SNP	C	C	T	rs146594134		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:53580635C>T	uc001cuy.2	-	3	394	c.226G>A	c.(226-228)GGA>AGA	p.G76R	SLC1A7_uc001cuz.3_Missense_Mutation_p.G76R|uc001cva.1_RNA	NM_006671	NP_006662	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter),	76	Helical; (Potential).					integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			ovary(2)|large_intestine(1)	3				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GAGGCAAGTCCGGACATCAAG	0.657												
LRP8	7804	broad.mit.edu	37	1	53727864	53727864	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:53727864C>T	uc001cvi.1	-	12	1932	c.1790G>A	c.(1789-1791)CGC>CAC	p.R597H	LRP8_uc001cvh.1_Missense_Mutation_p.R150H|LRP8_uc001cvk.1_Missense_Mutation_p.R427H|LRP8_uc001cvj.1_Missense_Mutation_p.R597H|LRP8_uc001cvl.1_Missense_Mutation_p.R468H|LRP8_uc001cvm.1_Missense_Mutation_p.R182H	NM_004631	NP_004622	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein	597	LDL-receptor class B 4.|Extracellular (Potential).				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity				0						CCAGTACAAGCGCTGGCTCAG	0.542												
TMEM61	199964	broad.mit.edu	37	1	55457572	55457572	+	Silent	SNP	G	G	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:55457572G>C	uc001cyd.2	+	3	703	c.429G>C	c.(427-429)GGG>GGC	p.G143G		NM_182532	NP_872338	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	143						integral to membrane					0						TGGCCGAGGGGCCCCCAACAC	0.642												
BSND	7809	broad.mit.edu	37	1	55472853	55472853	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:55472853C>T	uc001cye.2	+	3	699	c.456C>T	c.(454-456)GGC>GGT	p.G152G		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	barttin	152	Cytoplasmic (Potential).					basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				ovary(1)|skin(1)	2						GTGGCCCTGGCGACGTTCAGG	0.617												
PGM1	5236	broad.mit.edu	37	1	64059334	64059334	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:64059334G>A	uc001dbh.2	+	1	388	c.175G>A	c.(175-177)GTG>ATG	p.V59M	PGM1_uc010ooy.1_5'Flank	NM_002633	NP_002624	P36871	PGM1_HUMAN	phosphoglucomutase 1	59					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			ovary(2)|kidney(1)	3						CACGCTGGTGGTGGGCGGGGA	0.667												
SGIP1	84251	broad.mit.edu	37	1	67147821	67147821	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:67147821G>T	uc001dcr.2	+	15	1301	c.1084G>T	c.(1084-1086)GGG>TGG	p.G362W	SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Missense_Mutation_p.G129W	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	362	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3						AGGCCCCCCAGGGCCTCCTGG	0.567												
SERBP1	26135	broad.mit.edu	37	1	67891817	67891817	+	Splice_Site	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:67891817C>A	uc001ddv.2	-	2	604	c.464_splice	c.e2+1	p.R155_splice	SERBP1_uc001ddx.2_Splice_Site_p.R155_splice|SERBP1_uc001ddy.2_Splice_Site_p.R155_splice|SERBP1_uc001ddw.2_Splice_Site_p.R155_splice	NM_001018067	NP_001018077	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1 isoform 1						regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			skin(1)	1						aaaCAACTTACCTATCAACTG	0.224												
LRRC7	57554	broad.mit.edu	37	1	70504040	70504040	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:70504040C>T	uc001dep.2	+	19	2449	c.2419C>T	c.(2419-2421)CGC>TGC	p.R807C	LRRC7_uc009wbg.2_Missense_Mutation_p.R91C|LRRC7_uc001deq.2_Missense_Mutation_p.R48C	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	807						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						TTCGCATGGACGCAGGCCTTT	0.483												
LHX8	431707	broad.mit.edu	37	1	75622692	75622692	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:75622692G>C	uc001dgo.2	+	9	1589	c.925G>C	c.(925-927)GAA>CAA	p.E309Q	LHX8_uc001dgq.2_Missense_Mutation_p.E248Q	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	LIM homeobox 8	309						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						CATGTTAGAAGAAATGGCTTA	0.498												
USP33	23032	broad.mit.edu	37	1	78187594	78187594	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:78187594C>T	uc001dht.2	-	15	2019	c.1672G>A	c.(1672-1674)GTC>ATC	p.V558I	USP33_uc001dhs.2_Missense_Mutation_p.V279I|USP33_uc001dhu.2_Missense_Mutation_p.V527I|USP33_uc001dhv.2_Missense_Mutation_p.V363I|USP33_uc001dhw.2_Intron	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	558					axon guidance|cell migration|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|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3						CAGCTAGGGACACATGAGACA	0.383												
LPAR3	23566	broad.mit.edu	37	1	85279838	85279838	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:85279838G>A	uc001dkl.2	-	2	792	c.753C>T	c.(751-753)TGC>TGT	p.C251C	LPAR3_uc009wcj.1_Silent_p.C251C	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	251	Helical; Name=6; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				lung(3)|ovary(2)	5						CCGGGGTCCAGCATACCACAA	0.577												
GBP5	115362	broad.mit.edu	37	1	89733134	89733134	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:89733134T>C	uc001dnc.2	-	5	931	c.394A>G	c.(394-396)AAC>GAC	p.N132D	GBP5_uc001dnd.2_Missense_Mutation_p.N132D|GBP5_uc001dne.1_Missense_Mutation_p.N132D	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	132						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)		TCAATTTTGTTCACAGTATTG	0.438												
LRRC8C	84230	broad.mit.edu	37	1	90178423	90178423	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:90178423C>T	uc001dnl.3	+	3	536	c.294C>T	c.(292-294)GGC>GGT	p.G98G		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member	98						endoplasmic reticulum membrane|integral to membrane				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AAATGAAAGGCCTGAAGACAG	0.478												
DNTTIP2	30836	broad.mit.edu	37	1	94343392	94343392	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:94343392C>T	uc001dqf.2	-	2	137	c.99G>A	c.(97-99)GCG>GCA	p.A33A	DNTTIP2_uc010otm.1_RNA|DNTTIP2_uc009wdo.1_Intron	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal,	33					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TTTCTGGATGCGCTTGAATCC	0.443												
DPYD	1806	broad.mit.edu	37	1	98058829	98058829	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:98058829C>T	uc001drv.2	-	10	1210	c.1073G>A	c.(1072-1074)CGT>CAT	p.R358H		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	358					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GATGAACACACGGCGAGCTCC	0.468												
AGL	178	broad.mit.edu	37	1	100336320	100336320	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:100336320C>T	uc001dsi.1	+	7	1253	c.853C>T	c.(853-855)CGA>TGA	p.R285*	AGL_uc001dsj.1_Nonsense_Mutation_p.R285*|AGL_uc001dsk.1_Nonsense_Mutation_p.R285*|AGL_uc001dsl.1_Nonsense_Mutation_p.R285*|AGL_uc001dsm.1_Nonsense_Mutation_p.R269*|AGL_uc001dsn.1_Nonsense_Mutation_p.R268*	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	285	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TCAGTCCATCCGAAAAATAAT	0.284												
SASS6	163786	broad.mit.edu	37	1	100568561	100568561	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:100568561G>T	uc001dsu.2	-	14	1765	c.1624C>A	c.(1624-1626)CCT>ACT	p.P542T	SASS6_uc009wdz.2_Missense_Mutation_p.P375T	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN	spindle assembly abnormal protein 6	542					centriole replication	centriole				upper_aerodigestive_tract(1)|ovary(1)	2		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		ATCGAATGAGGGAAGGTATTC	0.388												
VCAM1	7412	broad.mit.edu	37	1	101186087	101186087	+	Silent	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:101186087T>C	uc001dti.2	+	2	240	c.120T>C	c.(118-120)GGT>GGC	p.G40G	VCAM1_uc001dtj.2_Silent_p.G40G|VCAM1_uc010ouj.1_Silent_p.G40G	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	40	Ig-like C2-type 1.|Extracellular (Potential).				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(1)	1		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CTCAGATTGGTGACTCCGTCT	0.438												
SARS	6301	broad.mit.edu	37	1	109777940	109777940	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:109777940C>T	uc001dwu.1	+	7	931	c.856C>T	c.(856-858)CGG>TGG	p.R286W	SARS_uc001dwt.1_Missense_Mutation_p.R286W|SARS_uc001dwv.1_Missense_Mutation_p.R286W|SARS_uc001dww.1_Missense_Mutation_p.R219W|SARS_uc001dwx.1_Missense_Mutation_p.R238W|SARS_uc009wfa.1_Missense_Mutation_p.R286W|SARS_uc001dwy.1_Missense_Mutation_p.R111W|SARS_uc001dwz.1_Missense_Mutation_p.R111W	NM_006513	NP_006504	P49591	SYSC_HUMAN	seryl-tRNA synthetase	286					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)	1		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	TGAGTGGCTCCGGCCGGAGGA	0.587												
CELSR2	1952	broad.mit.edu	37	1	109806835	109806835	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:109806835G>A	uc001dxa.3	+	10	5198	c.5137G>A	c.(5137-5139)GGC>AGC	p.G1713S		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	1713	Extracellular (Potential).|Laminin G-like 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGGGGGGCCCGGCCATGCCAT	0.657											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PSRC1	84722	broad.mit.edu	37	1	109824371	109824371	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:109824371G>A	uc001dxg.2	-	4	511	c.389C>T	c.(388-390)ACT>ATT	p.T130I	PSRC1_uc001dxb.2_5'UTR|PSRC1_uc001dxc.2_Missense_Mutation_p.T130I|PSRC1_uc001dxd.2_Missense_Mutation_p.T130I|PSRC1_uc001dxe.2_Missense_Mutation_p.T130I|PSRC1_uc001dxf.2_Missense_Mutation_p.T130I|PSRC1_uc001dxh.2_Missense_Mutation_p.T130I|PSRC1_uc001dxi.2_Missense_Mutation_p.T130I|PSRC1_uc001dxj.2_Missense_Mutation_p.T130I	NM_001032290	NP_001027461	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1 isoform c	130	4 X 4 AA repeats of P-X-X-P.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding				0		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		AGAGTTCACAGTGGGCAGCAG	0.642												
SORT1	6272	broad.mit.edu	37	1	109884778	109884778	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:109884778A>G	uc001dxm.1	-	9	1015	c.966T>C	c.(964-966)GAT>GAC	p.D322D	SORT1_uc010ovi.1_Silent_p.D185D	NM_002959	NP_002950	Q99523	SORT_HUMAN	sortilin 1 preproprotein	322	Extracellular (Potential).				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			ovary(1)	1		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TTCTTGTTGTATCCTAGAACA	0.423												
RBM15	64783	broad.mit.edu	37	1	110883026	110883026	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:110883026C>T	uc001dzl.1	+	1	1082	c.999C>T	c.(997-999)TAC>TAT	p.Y333Y	RBM15_uc001dzm.1_Silent_p.Y333Y|uc001dzj.2_5'Flank	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	333					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)		AAAGAGACTACCCGTTCTATG	0.587			T	MKL1	acute megakaryocytic leukemia							
RAP1A	5906	broad.mit.edu	37	1	112246040	112246040	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:112246040C>T	uc001ebi.2	+	5	370	c.266C>T	c.(265-267)ACG>ATG	p.T89M	RAP1A_uc001ebk.2_Missense_Mutation_p.T89M|RAP1A_uc001ebl.2_Missense_Mutation_p.T89M|RAP1A_uc001ebm.2_RNA	NM_002884	NP_002875	P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family precursor	89					activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion	cytosol|plasma membrane	GTP binding|GTPase activity				0		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		GCTCAGTCCACGTTTAACGAC	0.373												
TRIM33	51592	broad.mit.edu	37	1	114969882	114969882	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:114969882C>T	uc001eew.2	-	8	1421	c.1337G>A	c.(1336-1338)CGG>CAG	p.R446Q	TRIM33_uc010owr.1_Missense_Mutation_p.R54Q|TRIM33_uc010ows.1_Missense_Mutation_p.R54Q|TRIM33_uc001eex.2_Missense_Mutation_p.R446Q	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	446					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGATCACACCGTGCTTTCAA	0.363			T	RET	papillary thyroid							
NHLH2	4808	broad.mit.edu	37	1	116380938	116380938	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:116380938G>A	uc009wgz.2	-	2	561	c.56C>T	c.(55-57)TCG>TTG	p.S19L	NHLH2_uc001efy.2_Missense_Mutation_p.S19L	NM_001111061	NP_001104531	Q02577	HEN2_HUMAN	nescient helix loop helix 2	19					cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CTCCGGATCCGAGTGCGCCGA	0.632												
WARS2	10352	broad.mit.edu	37	1	119575803	119575803	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:119575803C>T	uc001ehn.2	-	6	842	c.814G>A	c.(814-816)GTG>ATG	p.V272M	WARS2_uc010oxf.1_Missense_Mutation_p.V178M|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Missense_Mutation_p.V215M|WARS2_uc010oxh.1_3'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	272					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	ATGTTGGACACGCCAGCGCGG	0.627												
ADAM30	11085	broad.mit.edu	37	1	120436658	120436658	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:120436658G>A	uc001eij.2	-	1	2456	c.2302C>T	c.(2302-2304)CAG>TAG	p.Q768*		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30 preproprotein	768	5 X 9 AA approximate repeats.|5.|Cytoplasmic (Potential).				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)		GATTCTTCCTGTCCAGTTTTT	0.358												
NOTCH2	4853	broad.mit.edu	37	1	120462980	120462980	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:120462980A>T	uc001eik.2	-	30	5607	c.5351T>A	c.(5350-5352)ATT>AAT	p.I1784N		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1784	Cytoplasmic (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	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)		CCGTCGATCAATGGGGTCATC	0.532			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome			
PDE4DIP	9659	broad.mit.edu	37	1	144922006	144922006	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:144922006C>T	uc001elw.3	-	9	1314	c.1023G>A	c.(1021-1023)CTG>CTA	p.L341L	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_Silent_p.L407L|PDE4DIP_uc001emc.1_Silent_p.L341L|PDE4DIP_uc001emd.1_Silent_p.L341L|PDE4DIP_uc001emb.1_Silent_p.L504L|PDE4DIP_uc001eme.1_5'UTR|PDE4DIP_uc001emf.1_Silent_p.L128L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	341					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)		GAAGATCAAGCAGAGCTACCT	0.483			T	PDGFRB	MPD							
NOTCH2NL	388677	broad.mit.edu	37	1	145281505	145281505	+	Silent	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:145281505T>C	uc001emn.3	+	4	805	c.435T>C	c.(433-435)AAT>AAC	p.N145N	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Silent_p.N145N|NOTCH2NL_uc001emo.2_Silent_p.N145N|NOTCH2NL_uc010oyh.1_RNA	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Notch homolog 2 N-terminal like protein	145	EGF-like 5; calcium-binding (Potential).				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			ovary(1)	1						CTGATGTCAATGAGTGTGACA	0.547												
HFE2	148738	broad.mit.edu	37	1	145416569	145416569	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:145416569C>T	uc001eni.2	+	4	1239	c.914C>T	c.(913-915)GCC>GTC	p.A305V	NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_Missense_Mutation_p.A79V|HFE2_uc001enk.2_Missense_Mutation_p.A192V|HFE2_uc001enl.2_Missense_Mutation_p.A79V	NM_213653	NP_998818	Q6ZVN8	RGMC_HUMAN	hemojuvelin isoform a precursor	305					axon guidance	anchored to membrane				ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAGGATGTGGCCATGGCCTTC	0.552												
ANKRD34A	284615	broad.mit.edu	37	1	145473759	145473759	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:145473759T>C	uc001enq.1	+	4	1724	c.431T>C	c.(430-432)ATC>ACC	p.I144T	NBPF10_uc001emp.3_Intron	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34	144											0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTCATCATCATCACCACCGAT	0.652												
ANKRD35	148741	broad.mit.edu	37	1	145562723	145562723	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:145562723G>A	uc001eob.1	+	10	2519	c.2411G>A	c.(2410-2412)AGC>AAC	p.S804N	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.S647N	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	804	Potential.									ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGCGGGAAGAGCCAGGAGATC	0.617												
GJA5	2702	broad.mit.edu	37	1	147231341	147231341	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:147231341G>A	uc001eps.1	-	2	147	c.6C>T	c.(4-6)GGC>GGT	p.G2G	GJA5_uc001ept.1_Silent_p.G2G	NM_181703	NP_859054	P36382	CXA5_HUMAN	connexin 40	2	Cytoplasmic (Potential).				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				ovary(1)	1	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			AGCTCCAATCGCCCATCTTGG	0.498												
MTMR11	10903	broad.mit.edu	37	1	149905749	149905749	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:149905749G>A	uc001etl.3	-	8	1021	c.770C>T	c.(769-771)CCG>CTG	p.P257L	MTMR11_uc001etm.1_Missense_Mutation_p.P185L|MTMR11_uc010pbm.1_Missense_Mutation_p.P229L|MTMR11_uc010pbn.1_Missense_Mutation_p.P99L	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	myotubularin related protein 11 isoform a	257	Myotubularin phosphatase.						phosphatase activity			central_nervous_system(1)	1	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CACACTGACCGGTCCACGGCC	0.562												
OTUD7B	56957	broad.mit.edu	37	1	149939441	149939441	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:149939441G>A	uc001etn.2	-	4	636	c.280C>T	c.(280-282)CGC>TGC	p.R94C	OTUD7B_uc001eto.2_Intron	NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	zinc finger protein Cezanne	94					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CTAGACAGGCGTTTTTCTGCA	0.537												
ANP32E	81611	broad.mit.edu	37	1	150199124	150199124	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:150199124C>T	uc001etw.2	-	5	867	c.497G>A	c.(496-498)GGC>GAC	p.G166D	ANP32E_uc010pbt.1_RNA|ANP32E_uc010pbu.1_Missense_Mutation_p.G118D|ANP32E_uc010pbv.1_Missense_Mutation_p.G125D|ANP32E_uc001etv.3_Missense_Mutation_p.G166D|ANP32E_uc010pbw.1_Missense_Mutation_p.A111T	NM_030920	NP_112182	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32	166	Asp/Glu-rich (highly acidic).					cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity				0	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATCTTCATCGCCATCTTTAAA	0.294												
TARS2	80222	broad.mit.edu	37	1	150476841	150476841	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:150476841C>T	uc001euq.2	+	14	1655	c.1648C>T	c.(1648-1650)CGG>TGG	p.R550W	TARS2_uc001eur.2_Missense_Mutation_p.R468W|TARS2_uc009wlt.2_Missense_Mutation_p.R176W|TARS2_uc009wls.2_Missense_Mutation_p.R420W	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	550					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TGCCCTGGGCCGGCCACATCA	0.453												
TARS2	80222	broad.mit.edu	37	1	150479415	150479415	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:150479415A>G	uc001euq.2	+	18	2039	c.2032A>G	c.(2032-2034)AAG>GAG	p.K678E	TARS2_uc001eur.2_Missense_Mutation_p.K596E|TARS2_uc009wlt.2_Missense_Mutation_p.K304E|TARS2_uc009wls.2_Missense_Mutation_p.K548E|ECM1_uc010pce.1_5'Flank|ECM1_uc010pcf.1_5'Flank|ECM1_uc001eus.2_5'Flank|ECM1_uc001eut.2_5'Flank|ECM1_uc001euu.2_5'Flank|ECM1_uc001euv.2_5'Flank|ECM1_uc009wlu.2_5'Flank	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	678					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	AGAGCAAAGTAAGAGAACAGT	0.512												
TCHH	7062	broad.mit.edu	37	1	152081942	152081942	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:152081942G>A	uc001ezp.2	-	2	3751	c.3751C>T	c.(3751-3753)CGG>TGG	p.R1251W	TCHH_uc009wne.1_Missense_Mutation_p.R1251W	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1251					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)			TCCAACTGCCGGAACTGTTCA	0.507												
FLG2	388698	broad.mit.edu	37	1	152329498	152329498	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:152329498T>C	uc001ezw.3	-	3	837	c.764A>G	c.(763-765)CAG>CGG	p.Q255R	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	255	Ser-rich.|Filaggrin 1.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AATTCTTGACTGAGTAGAGTT	0.453												
DENND4B	9909	broad.mit.edu	37	1	153912194	153912194	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:153912194G>A	uc001fdd.1	-	12	2091	c.1690C>T	c.(1690-1692)CGC>TGC	p.R564C		NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	564	dDENN.									ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGGACTTCGCGCTCCAGCCGG	0.657												
SLC39A1	27173	broad.mit.edu	37	1	153932959	153932959	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:153932959G>A	uc001fdh.2	-	4	759	c.590C>T	c.(589-591)GCG>GTG	p.A197V	CRTC2_uc010ped.1_5'Flank|SLC39A1_uc001fdi.2_Missense_Mutation_p.A197V|SLC39A1_uc001fdj.2_Missense_Mutation_p.A197V|SLC39A1_uc001fdk.2_Missense_Mutation_p.A197V|SLC39A1_uc010pee.1_Missense_Mutation_p.A95V|SLC39A1_uc001fdl.2_Missense_Mutation_p.A197V	NM_014437	NP_055252	Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter),	197	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity				0	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)	Colorectal(1306;0.019)		CAGCCCTACCGCCAGCCCCTC	0.677												
PKLR	5313	broad.mit.edu	37	1	155264954	155264954	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:155264954C>T	uc001fkb.3	-	5	686	c.647G>A	c.(646-648)CGC>CAC	p.R216H	RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Missense_Mutation_p.R185H	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	216					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(4)|ovary(1)	5	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	AATGTAGATGCGGCCCCCCAC	0.652												
ARHGEF2	9181	broad.mit.edu	37	1	155927507	155927507	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:155927507C>T	uc001fmt.2	-	13	1830	c.1712G>A	c.(1711-1713)CGC>CAC	p.R571H	ARHGEF2_uc001fmr.2_Missense_Mutation_p.R543H|ARHGEF2_uc001fms.2_Missense_Mutation_p.R570H|ARHGEF2_uc001fmu.2_Missense_Mutation_p.R615H	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor 2	571	PH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CACTCACGTGCGCACGCTCTG	0.572												
BCAN	63827	broad.mit.edu	37	1	156621478	156621478	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:156621478C>A	uc001fpp.2	+	7	1630	c.1294C>A	c.(1294-1296)CTA>ATA	p.L432I	BCAN_uc001fpo.2_Missense_Mutation_p.L432I	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	432	Glu-rich.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TAGGACGCTCCTAGGTAAGTC	0.552												
CRABP2	1382	broad.mit.edu	37	1	156670692	156670692	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:156670692G>A	uc001fpr.2	-	2	360	c.223C>T	c.(223-225)CAG>TAG	p.Q75*		NM_001878	NP_001869	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	75					epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity			upper_aerodigestive_tract(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)	TCCACAGTCTGCTCCTCAAAC	0.547												
SH2D2A	9047	broad.mit.edu	37	1	156779494	156779494	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:156779494C>T	uc001fqd.2	-	6	813	c.673G>A	c.(673-675)GCC>ACC	p.A225T	SH2D2A_uc001fqc.1_Missense_Mutation_p.A197T|SH2D2A_uc009wsh.2_Missense_Mutation_p.A235T|SH2D2A_uc001fqe.2_Missense_Mutation_p.A207T|SH2D2A_uc010phs.1_Missense_Mutation_p.A225T	NM_003975	NP_003966	Q9NP31	SH22A_HUMAN	SH2 domain protein 2A isoform 2	225	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity				0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGGACTGGGGCTTGCCCCTGT	0.607												
OR6N1	128372	broad.mit.edu	37	1	158736446	158736446	+	Silent	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:158736446T>C	uc010piq.1	-	1	27	c.27A>G	c.(25-27)GTA>GTG	p.V9V		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TGAATTCTGCTACCTGGCTCC	0.458												
UHMK1	127933	broad.mit.edu	37	1	162470799	162470799	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:162470799A>G	uc001gcc.1	+	3	794	c.658A>G	c.(658-660)ACC>GCC	p.T220A	UHMK1_uc001gcb.1_Missense_Mutation_p.T146A|UHMK1_uc009wuu.1_Missense_Mutation_p.T220A	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	kinase interacting stathmin	220	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding				0	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TACAGAATGTACCTCAGCTGT	0.438												
LRRC52	440699	broad.mit.edu	37	1	165513785	165513785	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:165513785T>A	uc001gde.2	+	1	308	c.252T>A	c.(250-252)TGT>TGA	p.C84*	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52 precursor	84	LRR 2.|Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					ATTTGGACTGTCAGAACAACC	0.488												
TBX19	9095	broad.mit.edu	37	1	168282167	168282167	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:168282167C>T	uc001gfl.2	+	8	1325	c.1274C>T	c.(1273-1275)GCC>GTC	p.A425V	TBX19_uc001gfj.3_Missense_Mutation_p.A293V|TBX19_uc001gfm.2_Missense_Mutation_p.A128V	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	425					anatomical structure morphogenesis	nucleus	DNA binding				0	all_hematologic(923;0.215)					ACAGCAGTGGCCTCGCATCCC	0.622												
NME7	29922	broad.mit.edu	37	1	169292503	169292503	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:169292503G>A	uc001gfu.2	-	3	368	c.130C>T	c.(130-132)CGC>TGC	p.R44C	NME7_uc010plq.1_RNA|NME7_uc001gft.2_Missense_Mutation_p.R8C|NME7_uc001gfv.1_Missense_Mutation_p.R44C	NM_013330	NP_037462	Q9Y5B8	NDK7_HUMAN	nucleoside diphosphate kinase 7 isoform a	44	DM10.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)	1	all_hematologic(923;0.208)					AAAAAGGTGCGATGATTCTTT	0.313												
BLZF1	8548	broad.mit.edu	37	1	169347718	169347718	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:169347718C>T	uc001gfx.1	+	4	1056	c.619C>T	c.(619-621)CGT>TGT	p.R207C	BLZF1_uc001gfy.2_Missense_Mutation_p.R207C|BLZF1_uc009wvp.1_Missense_Mutation_p.R184C	NM_003666	NP_003657	Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	207	Potential.				cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			skin(1)	1	all_hematologic(923;0.208)					ACAGTTAGAACGTATGTCAAT	0.393												
BAT2L2	23215	broad.mit.edu	37	1	171511137	171511137	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:171511137G>A	uc010pmg.1	+	16	4792	c.4526G>A	c.(4525-4527)CGA>CAA	p.R1509Q	BAT2L2_uc010pmh.1_Missense_Mutation_p.R486Q	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	1509							protein C-terminus binding				0						AATGAGAGGCGAGAGAGGGAT	0.398												
TNR	7143	broad.mit.edu	37	1	175292549	175292549	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:175292549G>A	uc001gkp.1	-	21	4102	c.4021C>T	c.(4021-4023)CGC>TGC	p.R1341C	TNR_uc009wwu.1_Missense_Mutation_p.R1341C	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	1341	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					TTGTAGGGGCGCATCTTCATT	0.512												
ZNF648	127665	broad.mit.edu	37	1	182026465	182026465	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:182026465C>T	uc001goz.2	-	2	889	c.681G>A	c.(679-681)GCG>GCA	p.A227A		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGCTGTTCCGCGCTTTTGCCA	0.701												
TEDDM1	127670	broad.mit.edu	37	1	182369414	182369414	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:182369414C>A	uc001gpe.2	-	1	338	c.207G>T	c.(205-207)TGG>TGT	p.W69C		NM_172000	NP_741997	Q5T9Z0	TEDM1_HUMAN	putative membrane protein HE9	69						integral to membrane				ovary(2)	2						TGAGGTGCTGCCACTCTTTGG	0.498												
RGS16	6004	broad.mit.edu	37	1	182569617	182569617	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:182569617G>A	uc001gpl.3	-	5	573	c.419C>T	c.(418-420)ACG>ATG	p.T140M		NM_002928	NP_002919	O15492	RGS16_HUMAN	regulator of G-protein signalling 16	140	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			ovary(1)	1						GTTCATCCTCGTCAGCTCGTG	0.587												
GLT25D2	23127	broad.mit.edu	37	1	183933050	183933050	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:183933050G>A	uc001gqr.2	-	6	1309	c.937C>T	c.(937-939)CAG>TAG	p.Q313*	GLT25D2_uc010poj.1_Nonsense_Mutation_p.Q313*|GLT25D2_uc001gqq.2_Nonsense_Mutation_p.Q50*|GLT25D2_uc001gqs.2_Nonsense_Mutation_p.Q193*	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	313					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						GCTTCAATCTGCACATGGATG	0.547												
FAM129A	116496	broad.mit.edu	37	1	184764680	184764680	+	Missense_Mutation	SNP	C	C	T	rs140276880		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:184764680C>T	uc001gra.2	-	14	2412	c.2218G>A	c.(2218-2220)GTT>ATT	p.V740I	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	niban protein isoform 2	740	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				ovary(3)|skin(1)	4						TCTTGGGGAACGTGGCTCTCC	0.532												
HMCN1	83872	broad.mit.edu	37	1	185958730	185958730	+	Silent	SNP	C	C	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:185958730C>G	uc001grq.1	+	21	3388	c.3159C>G	c.(3157-3159)GCC>GCG	p.A1053A	HMCN1_uc001grr.1_Silent_p.A394A	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1053	Ig-like C2-type 7.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TCTGCACTGCCACCAATACAG	0.483												
HMCN1	83872	broad.mit.edu	37	1	185966629	185966629	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:185966629C>T	uc001grq.1	+	25	4076	c.3847C>T	c.(3847-3849)CGC>TGC	p.R1283C		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1283	Ig-like C2-type 10.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GGCCAATCAACGCATTGAATT	0.348												
HMCN1	83872	broad.mit.edu	37	1	186106003	186106003	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:186106003G>T	uc001grq.1	+	87	13745	c.13516G>T	c.(13516-13518)GAA>TAA	p.E4506*	HMCN1_uc001grs.1_Nonsense_Mutation_p.E75*	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4506	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AGATACCTCTGAATTTGAATG	0.433												
PRG4	10216	broad.mit.edu	37	1	186276379	186276379	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:186276379A>G	uc001gru.3	+	7	1579	c.1528A>G	c.(1528-1530)ACC>GCC	p.T510A	PRG4_uc001grt.3_Missense_Mutation_p.T469A|PRG4_uc009wyl.2_Missense_Mutation_p.T417A|PRG4_uc009wym.2_Missense_Mutation_p.T376A|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	510	59 X 8 AA repeats of K-X-P-X-P-T-T-X.|21.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						TGCACCCACCACCACCAAGGA	0.637												
TPR	7175	broad.mit.edu	37	1	186292897	186292897	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:186292897G>A	uc001grv.2	-	43	6515	c.6218C>T	c.(6217-6219)TCA>TTA	p.S2073L		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	2073					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)		GCGTCTCGGTGACTGAGGTGC	0.507			T	NTRK1	papillary thyroid							
CRB1	23418	broad.mit.edu	37	1	197404527	197404527	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:197404527C>T	uc001gtz.2	+	9	3669	c.3534C>T	c.(3532-3534)ATC>ATT	p.I1178I	CRB1_uc010poz.1_Silent_p.I1154I|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.I1066I|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Silent_p.I659I|CRB1_uc001gub.1_Silent_p.I827I	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	1178	EGF-like 16; calcium-binding (Potential).|Extracellular (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						AACTCAACATCGATGAATGCT	0.488												
PPP1R12B	4660	broad.mit.edu	37	1	202464774	202464774	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:202464774A>G	uc001gya.1	+	17	2556	c.2412A>G	c.(2410-2412)CGA>CGG	p.R804R	PPP1R12B_uc001gxz.1_Silent_p.R804R|PPP1R12B_uc001gyb.1_Silent_p.R30R|PPP1R12B_uc001gyc.1_Silent_p.R30R	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	804					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)			CCAAGGAACGACGAAGAGGCA	0.463												
CYB5R1	51706	broad.mit.edu	37	1	202934510	202934510	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:202934510T>C	uc001gyt.2	-	5	535	c.464A>G	c.(463-465)TAC>TGC	p.Y155C	CYB5R1_uc010pqe.1_RNA	NM_016243	NP_057327	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	155	FAD-binding FR-type.|FAD (By similarity).				sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(75;0.141)			TTTTCCAGTGTAAGTGAGCAA	0.517												
TMEM183A	92703	broad.mit.edu	37	1	202990020	202990020	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:202990020G>A	uc001gyu.1	+	7	947	c.889G>A	c.(889-891)GTC>ATC	p.V297I	TMEM183A_uc001gyv.1_RNA|TMEM183A_uc001gyw.1_Missense_Mutation_p.V296I|TMEM183A_uc001gyx.1_Missense_Mutation_p.G293D|TMEM183A_uc001gyy.2_5'Flank	NM_001079809	NP_001073277	Q8IXX5	T183A_HUMAN	transmembrane protein 183B	297						integral to membrane					0			BRCA - Breast invasive adenocarcinoma(75;0.18)			CCTACTGCAGGTCACCACCCT	0.458												
PPFIA4	8497	broad.mit.edu	37	1	203033065	203033065	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:203033065G>A	uc001gyz.2	+	12	2059	c.1466G>A	c.(1465-1467)CGC>CAC	p.R489H	PPFIA4_uc009xaj.2_Missense_Mutation_p.R1120H|PPFIA4_uc010pqf.1_Missense_Mutation_p.R702H|PPFIA4_uc001gza.2_Missense_Mutation_p.R480H|PPFIA4_uc001gzb.1_Missense_Mutation_p.R175H|PPFIA4_uc001gzc.1_Missense_Mutation_p.R31H	NM_015053	NP_055868	O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f	489	SAM 2.				cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5						GTGGACGCCCGCATGCTGGAC	0.622												
PLEKHA6	22874	broad.mit.edu	37	1	204234077	204234077	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:204234077G>A	uc001hau.2	-	6	691	c.374C>T	c.(373-375)ACG>ATG	p.T125M		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	125	PH.									ovary(3)|pancreas(1)	4	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GACCTTAAACGTGTGTTTCCG	0.582												
LAMB3	3914	broad.mit.edu	37	1	209807865	209807865	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:209807865C>T	uc001hhg.2	-	5	881	c.491G>A	c.(490-492)CGG>CAG	p.R164Q	LAMB3_uc009xco.2_Missense_Mutation_p.R164Q|LAMB3_uc001hhh.2_Missense_Mutation_p.R164Q|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Intron	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	164	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCTCTGAGGCCGACCCTGGCG	0.597												
HHAT	55733	broad.mit.edu	37	1	210761245	210761245	+	Nonsense_Mutation	SNP	T	T	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:210761245T>G	uc009xcx.2	+	10	1213	c.1047T>G	c.(1045-1047)TAT>TAG	p.Y349*	HHAT_uc010psq.1_Nonsense_Mutation_p.Y212*|HHAT_uc001hhz.3_Nonsense_Mutation_p.Y349*|HHAT_uc010psr.1_Nonsense_Mutation_p.Y350*|HHAT_uc010pss.1_Nonsense_Mutation_p.Y304*|HHAT_uc009xcy.2_Nonsense_Mutation_p.Y284*|HHAT_uc010pst.1_Nonsense_Mutation_p.Y286*|HHAT_uc010psu.1_Nonsense_Mutation_p.Y284*|HHAT_uc001hia.3_Nonsense_Mutation_p.Y39*	NM_001122834	NP_001116306	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	349					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TCTCTAGGTATGTGTACATTC	0.537												
KCNH1	3756	broad.mit.edu	37	1	211307209	211307209	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:211307209C>T	uc001hib.2	-	1	249	c.79G>A	c.(79-81)GAT>AAT	p.D27N	KCNH1_uc001hic.2_Missense_Mutation_p.D27N	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	27	Cytoplasmic (Potential).|PAS.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CACCTCTTACCATTGGACCGC	0.582											OREG0014229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PROX1	5629	broad.mit.edu	37	1	214170906	214170906	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:214170906C>T	uc001hkh.2	+	2	1300	c.1028C>T	c.(1027-1029)CCG>CTG	p.P343L	PROX1_uc001hkg.1_Missense_Mutation_p.P343L	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	343					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCCTTACAACCGGAAGGCAAA	0.512												
CENPF	1063	broad.mit.edu	37	1	214818951	214818951	+	Missense_Mutation	SNP	C	C	T	rs150986314	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:214818951C>T	uc001hkm.2	+	13	6212	c.6038C>T	c.(6037-6039)ACG>ATG	p.T2013M		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2109	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)		AAGGAAAAGACGGAACTCCTT	0.443												
KCTD3	51133	broad.mit.edu	37	1	215792267	215792267	+	Silent	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:215792267C>A	uc001hks.2	+	16	1896	c.1602C>A	c.(1600-1602)TCC>TCA	p.S534S	KCTD3_uc001hkt.2_Silent_p.S534S|KCTD3_uc010pub.1_Silent_p.S432S|KCTD3_uc009xdn.2_Silent_p.S258S	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	534						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(3)	3				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		CTACAATATCCTCATTTACAG	0.428												
TGFB2	7042	broad.mit.edu	37	1	218607536	218607536	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:218607536A>G	uc001hlm.2	+	3	1276	c.623A>G	c.(622-624)CAT>CGT	p.H208R	TGFB2_uc001hln.2_Missense_Mutation_p.H236R|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA	NM_003238	NP_003229	P61812	TGFB2_HUMAN	transforming growth factor, beta 2 isoform 2	208					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding				0				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GATGCTGTTCATGAATGGCTT	0.413												
TMEM63A	9725	broad.mit.edu	37	1	226040398	226040398	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:226040398A>G	uc001hpm.1	-	20	2120	c.1870T>C	c.(1870-1872)TAC>CAC	p.Y624H		NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	624	Helical; (Potential).					integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					GTGATGCTGTAGGCCACGATG	0.562												
C1orf55	163859	broad.mit.edu	37	1	226175780	226175780	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:226175780T>A	uc001hpu.3	-	6	1004	c.951A>T	c.(949-951)GAA>GAT	p.E317D	C1orf55_uc001hpv.2_Missense_Mutation_p.E317D	NM_152608	NP_689821	Q6IQ49	CA055_HUMAN	hypothetical protein LOC163859	317										lung(1)	1	Breast(184;0.197)					CCTGGGTCTCTTCTGTTTCTG	0.493												
MRPL55	128308	broad.mit.edu	37	1	228294490	228294490	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:228294490G>A	uc001hry.2	-	3	1102	c.358C>T	c.(358-360)CGA>TGA	p.R120*	MRPL55_uc001hrz.3_Nonsense_Mutation_p.R156*|MRPL55_uc009xex.2_Nonsense_Mutation_p.R120*|MRPL55_uc001hsa.3_Nonsense_Mutation_p.R120*|MRPL55_uc001hsb.3_Nonsense_Mutation_p.R120*|MRPL55_uc001hsc.3_Nonsense_Mutation_p.R120*|MRPL55_uc001hsd.3_Nonsense_Mutation_p.R120*|MRPL55_uc001hse.3_Nonsense_Mutation_p.R120*|MRPL55_uc001hsf.3_Nonsense_Mutation_p.R120*|MRPL55_uc001hsg.3_Nonsense_Mutation_p.R120*	NM_181465	NP_852130	Q7Z7F7	RM55_HUMAN	mitochondrial ribosomal protein L55 isoform a	120					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			central_nervous_system(1)	1		Prostate(94;0.0405)				CAGAACTGTCGGTAGCGCTCC	0.587												
OBSCN	84033	broad.mit.edu	37	1	228529196	228529196	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:228529196G>T	uc009xez.1	+	74	17959	c.17915G>T	c.(17914-17916)TGG>TTG	p.W5972L	OBSCN_uc001hsn.2_Missense_Mutation_p.W5972L|OBSCN_uc001hsr.1_Missense_Mutation_p.W601L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5972	PH.				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)				TTCGAGGTGTGGCAGGAGCGG	0.642												
TRIM11	81559	broad.mit.edu	37	1	228582822	228582822	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:228582822C>T	uc001hss.2	-	6	1246	c.991G>A	c.(991-993)GTG>ATG	p.V331M	TRIM11_uc010pvx.1_Missense_Mutation_p.V330M	NM_145214	NP_660215	Q96F44	TRI11_HUMAN	tripartite motif-containing 11	331	B30.2/SPRY.				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			lung(3)|ovary(1)	4		Prostate(94;0.0724)				TGGCCCAGCACGCAGGGGCCG	0.697												
RHOU	58480	broad.mit.edu	37	1	228879181	228879181	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:228879181C>T	uc001htf.2	+	3	1092	c.471C>T	c.(469-471)ATC>ATT	p.I157I		NM_021205	NP_067028	Q7L0Q8	RHOU_HUMAN	ras homolog gene family, member U	157					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding				0	Breast(184;0.162)	Prostate(94;0.183)				CCCCCATCATCCTAGTTGGAA	0.522												
COG2	22796	broad.mit.edu	37	1	230820911	230820911	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:230820911C>T	uc001htw.2	+	12	1460	c.1309C>T	c.(1309-1311)CCA>TCA	p.P437S	COG2_uc001htx.2_Missense_Mutation_p.P437S|COG2_uc010pwc.1_Missense_Mutation_p.P310S	NM_007357	NP_031383	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2 isoform	437					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)				GATGTTCTTGCCATTACTGGT	0.468												
CAPN9	10753	broad.mit.edu	37	1	230928178	230928178	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:230928178G>A	uc001htz.1	+	16	1842	c.1729G>A	c.(1729-1731)GGC>AGC	p.G577S	CAPN9_uc009xfg.1_Missense_Mutation_p.G514S|CAPN9_uc001hua.1_Missense_Mutation_p.G551S	NM_006615	NP_006606	O14815	CAN9_HUMAN	calpain 9 isoform 1	577	1 (Potential).|EF-hand 2.|Domain IV.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)	1	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				ACAGACCAGCGGCAATGGGAA	0.567												
EGLN1	54583	broad.mit.edu	37	1	231503356	231503356	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:231503356T>C	uc001huv.2	-	4	4331	c.1175A>G	c.(1174-1176)GAT>GGT	p.D392G	EGLN1_uc001huu.3_Missense_Mutation_p.D94G	NM_022051	NP_071334	Q9GZT9	EGLN1_HUMAN	egl nine homolog 1	392	Fe2OG dioxygenase.				negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding				0		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			Vitamin C(DB00126)	CTCATCTGCATCAAAATACCA	0.378												
TARBP1	6894	broad.mit.edu	37	1	234541716	234541716	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:234541716C>A	uc001hwd.2	-	24	3922	c.3922G>T	c.(3922-3924)GAA>TAA	p.E1308*		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	1308					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)|skin(1)	3	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)			GCATCAAATTCTTCAACACTT	0.463												
ACTN2	88	broad.mit.edu	37	1	236907942	236907942	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:236907942G>T	uc001hyf.2	+	12	1476	c.1272G>T	c.(1270-1272)TTG>TTT	p.L424F	ACTN2_uc001hyg.2_Missense_Mutation_p.L216F|ACTN2_uc009xgi.1_Missense_Mutation_p.L424F|ACTN2_uc010pxu.1_Missense_Mutation_p.L113F|ACTN2_uc001hyh.2_Missense_Mutation_p.L112F	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	424	Spectrin 2.				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)			AGCAGATCTTGCTGCAGAAGG	0.597												
RYR2	6262	broad.mit.edu	37	1	237664023	237664023	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:237664023G>A	uc001hyl.1	+	21	2336	c.2216G>A	c.(2215-2217)CGT>CAT	p.R739H		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	739	Cytoplasmic (By similarity).|B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTATTGCTCGTACTGTAAGC	0.393												
OPN3	23596	broad.mit.edu	37	1	241757740	241757740	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:241757740C>T	uc001hza.2	-	4	1344	c.1199G>A	c.(1198-1200)CGT>CAT	p.R400H	KMO_uc009xgp.2_3'UTR|OPN3_uc001hzb.2_RNA|OPN3_uc001hzc.2_RNA	NM_014322	NP_055137	Q9H1Y3	OPN3_HUMAN	opsin 3	400	Cytoplasmic (Potential).				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity				0	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CTACAAAGGACGAACTTGGAT	0.408												
CHML	1122	broad.mit.edu	37	1	241797190	241797190	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:241797190C>T	uc001hzd.2	-	1	2043	c.1879G>A	c.(1879-1881)GCT>ACT	p.A627T	OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	choroideremia-like Rab escort protein 2	627					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(4)|skin(2)	6	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GTTCCAGGAGCCTCTGGCTGC	0.423												
SDCCAG8	10806	broad.mit.edu	37	1	243433519	243433519	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:243433519C>T	uc001hzw.2	+	2	336	c.180C>T	c.(178-180)GAC>GAT	p.D60D	SDCCAG8_uc010pyk.1_Intron|SDCCAG8_uc010pyl.1_Intron	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	60					establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding				0	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GAAATGAGGACGCCAGGACAG	0.458												
C1orf101	257044	broad.mit.edu	37	1	244769065	244769065	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:244769065A>T	uc001iam.2	+	18	2431	c.2372A>T	c.(2371-2373)GAT>GTT	p.D791V	C1orf101_uc001iak.1_Missense_Mutation_p.D345V|C1orf101_uc001ial.2_Missense_Mutation_p.D791V|C1orf101_uc010pym.1_Missense_Mutation_p.D640V|C1orf101_uc010pyn.1_Missense_Mutation_p.D724V	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	hypothetical protein LOC257044 isoform 1	791	Extracellular (Potential).					integral to membrane				ovary(1)|breast(1)	2	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			CACGGCAGGGATGACTATAGC	0.338												
OR2AK2	391191	broad.mit.edu	37	1	248129152	248129152	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:248129152A>G	uc010pzd.1	+	1	519	c.519A>G	c.(517-519)ATA>ATG	p.I173M	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	173	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G167fs*43(1)		ovary(1)|breast(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATGCTTTCATACATACATTGT	0.428												
OR2L3	391192	broad.mit.edu	37	1	248224720	248224720	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:248224720T>C	uc001idx.1	+	1	737	c.737T>C	c.(736-738)GTA>GCA	p.V246A	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	246	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CACCTCACTGTAGTAACTTTC	0.488												
CELF2	10659	broad.mit.edu	37	10	11317065	11317065	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:11317065G>A	uc001iki.3	+	8	894	c.802G>A	c.(802-804)GGC>AGC	p.G268S	CELF2_uc010qbi.1_Missense_Mutation_p.G40S|CELF2_uc010qbj.1_Missense_Mutation_p.G268S|CELF2_uc001ikk.2_Missense_Mutation_p.G275S|CELF2_uc001ikl.3_Missense_Mutation_p.G275S|CELF2_uc010qbk.1_RNA|CELF2_uc010qbl.1_Missense_Mutation_p.G244S|CELF2_uc010qbm.1_Missense_Mutation_p.G40S|CELF2_uc001iko.3_Missense_Mutation_p.G244S|CELF2_uc001ikp.3_Missense_Mutation_p.G244S|CELF2_uc010qbn.1_Missense_Mutation_p.G252S|CELF2_uc010qbo.1_Missense_Mutation_p.G157S|CELF2_uc010qbp.1_Missense_Mutation_p.G40S	NM_001025077	NP_001020248	O95319	CELF2_HUMAN	CUG triplet repeat, RNA binding protein 2	268	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding				0						TGCGTTCAGCGGCATTCAACA	0.542												
USP6NL	9712	broad.mit.edu	37	10	11505504	11505504	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:11505504C>T	uc001ikt.3	-	15	1744	c.1423G>A	c.(1423-1425)GCC>ACC	p.A475T	USP6NL_uc001iks.1_Missense_Mutation_p.A492T	NM_014688	NP_055503	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 1	475						intracellular	Rab GTPase activator activity				0						TTTGAAGTGGCGTTGCTATTT	0.453												
C10orf47	254427	broad.mit.edu	37	10	11894126	11894126	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:11894126C>T	uc001ikx.2	+	2	204	c.50C>T	c.(49-51)ACG>ATG	p.T17M	uc001iky.1_Intron	NM_153256	NP_694988	Q86WR7	CJ047_HUMAN	hypothetical protein LOC254427	17	Ser-rich.									central_nervous_system(1)	1						AACTCAGACACGTCCCCCAGC	0.602												
CUBN	8029	broad.mit.edu	37	10	16979614	16979614	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:16979614C>T	uc001ioo.2	-	39	5955	c.5903G>A	c.(5902-5904)GGT>GAT	p.G1968D		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1968					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGTAAAACACCATCAGGTGC	0.413												
CUBN	8029	broad.mit.edu	37	10	17107617	17107617	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:17107617G>A	uc001ioo.2	-	22	3081	c.3029C>T	c.(3028-3030)CCG>CTG	p.P1010L		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1010	CUB 5.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGAGATGGCGGGATCGACTT	0.393												
PTPLA	9200	broad.mit.edu	37	10	17636319	17636319	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:17636319A>G	uc001ipg.2	-	6	704	c.669T>C	c.(667-669)GCT>GCC	p.A223A		NM_014241	NP_055056	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like, member A	223	Lumenal (Potential).				fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity			central_nervous_system(1)|skin(1)	2						GCGGCAAGGCAGCGTATATTG	0.323												
NEBL	10529	broad.mit.edu	37	10	21147169	21147169	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:21147169G>A	uc001iqi.2	-	9	1300	c.903C>T	c.(901-903)GGC>GGT	p.G301G	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	301	Nebulin 8.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						AACCACTTACGCCGCTGAGCA	0.448												
KIAA1217	56243	broad.mit.edu	37	10	24727369	24727369	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:24727369G>A	uc001iru.3	+	5	1210	c.807G>A	c.(805-807)GCG>GCA	p.A269A	KIAA1217_uc001irs.2_Silent_p.A189A|KIAA1217_uc001irt.3_Silent_p.A269A|KIAA1217_uc010qcy.1_Silent_p.A269A|KIAA1217_uc010qcz.1_Silent_p.A269A|KIAA1217_uc001irv.1_Silent_p.A119A|KIAA1217_uc010qda.1_RNA	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	269					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						CTGCACATGCGTTTAATCACA	0.408												
MYO3A	53904	broad.mit.edu	37	10	26359255	26359255	+	Silent	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:26359255T>C	uc001isn.2	+	14	1644	c.1284T>C	c.(1282-1284)GTT>GTC	p.V428V	MYO3A_uc009xko.1_Silent_p.V428V|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Silent_p.V428V	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	428	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						AGTGCATTGTTATTTCTGGAG	0.343												
SVIL	6840	broad.mit.edu	37	10	29821497	29821497	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:29821497G>A	uc001iut.1	-	8	2552	c.1799C>T	c.(1798-1800)GCG>GTG	p.A600V	SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Missense_Mutation_p.A600V	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	600					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				TGCCAGGAACGCACTTCGGAG	0.582												
ZNF438	220929	broad.mit.edu	37	10	31134090	31134090	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:31134090G>T	uc010qdz.1	-	8	2722	c.2287C>A	c.(2287-2289)CCT>ACT	p.P763T	ZNF438_uc001ivn.2_Missense_Mutation_p.P714T|ZNF438_uc010qdy.1_Missense_Mutation_p.P753T|ZNF438_uc001ivo.3_Missense_Mutation_p.P327T|ZNF438_uc009xlg.2_Missense_Mutation_p.P763T|ZNF438_uc001ivp.3_Missense_Mutation_p.P753T|ZNF438_uc010qea.1_Missense_Mutation_p.P763T|ZNF438_uc010qeb.1_Missense_Mutation_p.P763T	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	763					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)				TGGAGGCCAGGACACTCAGGG	0.547												
ZNF438	220929	broad.mit.edu	37	10	31139183	31139183	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:31139183G>A	uc010qdz.1	-	7	586	c.151C>T	c.(151-153)CTG>TTG	p.L51L	ZNF438_uc001ivn.2_Silent_p.L2L|ZNF438_uc010qdy.1_Silent_p.L41L|ZNF438_uc001ivo.3_5'UTR|ZNF438_uc009xlg.2_Silent_p.L51L|ZNF438_uc001ivp.3_Silent_p.L41L|ZNF438_uc010qea.1_Silent_p.L51L|ZNF438_uc010qeb.1_Silent_p.L51L|ZNF438_uc010qec.1_5'UTR	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)				TGACATGGCAGCATTCTGGAC	0.488												
RASGEF1A	221002	broad.mit.edu	37	10	43696165	43696165	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:43696165C>T	uc001jap.1	-	5	712	c.631G>A	c.(631-633)GTG>ATG	p.V211M	RASGEF1A_uc001jao.1_Missense_Mutation_p.V219M	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	211					cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0						TCGCAGCACACGCCCAGGATG	0.652												
RASSF4	83937	broad.mit.edu	37	10	45487447	45487447	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:45487447T>C	uc001jbo.2	+	10	1036	c.902T>C	c.(901-903)ATG>ACG	p.M301T	RASSF4_uc001jbp.2_Missense_Mutation_p.M332T|RASSF4_uc009xmn.2_Missense_Mutation_p.M231T|RASSF4_uc001jbq.2_Missense_Mutation_p.M198T|RASSF4_uc001jbt.2_Missense_Mutation_p.M258T	NM_032023	NP_114412	Q9H2L5	RASF4_HUMAN	Ras association domain family 4	301	SARAH.				cell cycle|signal transduction		protein binding			large_intestine(1)	1						AAACTGACCATGAAGTAAGCA	0.453												
SLC18A3	6572	broad.mit.edu	37	10	50820184	50820184	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:50820184G>A	uc001jhw.2	+	1	1838	c.1398G>A	c.(1396-1398)TTG>TTA	p.L466L	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	466	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						CTCCCGTCTTGCTGCTGCTCC	0.647												
CHAT	1103	broad.mit.edu	37	10	50863204	50863204	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:50863204C>T	uc001jhz.2	+	12	1851	c.1698C>T	c.(1696-1698)CGC>CGT	p.R566R	CHAT_uc001jhv.1_Silent_p.R448R|CHAT_uc001jhx.1_Silent_p.R448R|CHAT_uc001jhy.1_Silent_p.R448R|CHAT_uc001jia.2_Silent_p.R448R|CHAT_uc010qgs.1_Silent_p.R448R	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	566					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	AGGAGGGACGCGTGGACAACA	0.597												
PRKG1	5592	broad.mit.edu	37	10	52913011	52913011	+	Silent	SNP	T	T	C	rs56398862		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:52913011T>C	uc001jjm.2	+	2	548	c.354T>C	c.(352-354)TGT>TGC	p.C118C	PRKG1_uc001jjn.2_Silent_p.C133C|PRKG1_uc001jjo.2_Silent_p.C133C|PRKG1_uc010qhp.1_Silent_p.C118C	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I isoform	118	cGMP 1.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TTGTGGATTGTATGTACCCGG	0.458												
PRKG1	5592	broad.mit.edu	37	10	54042012	54042012	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:54042012G>T	uc001jjm.2	+	14	1794	c.1600G>T	c.(1600-1602)GGC>TGC	p.G534C	PRKG1_uc001jjo.2_Missense_Mutation_p.G549C|PRKG1_uc009xow.1_Missense_Mutation_p.G252C|uc001jjq.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I isoform	534	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CCTGAACAAAGGCCATGACAT	0.423												
PCDH15	65217	broad.mit.edu	37	10	55582333	55582333	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:55582333G>A	uc001jju.1	-	33	5548	c.5153C>T	c.(5152-5154)CCT>CTT	p.P1718L	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P1715L|PCDH15_uc010qhw.1_Missense_Mutation_p.P1678L|PCDH15_uc010qhx.1_Missense_Mutation_p.P1649L|PCDH15_uc010qhy.1_Missense_Mutation_p.P1725L|PCDH15_uc010qhz.1_Missense_Mutation_p.P1720L|PCDH15_uc010qia.1_Missense_Mutation_p.P1698L|PCDH15_uc010qib.1_Missense_Mutation_p.P1695L	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1718	Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				CATACAAATAGGTGTCTCTCT	0.363										HNSCC(58;0.16)		
BICC1	80114	broad.mit.edu	37	10	60549123	60549123	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:60549123G>A	uc001jki.1	+	7	702	c.702G>A	c.(700-702)ACG>ACA	p.T234T		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	234					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						TATCACAAACGTACAATATTT	0.413												
ANK3	288	broad.mit.edu	37	10	61847936	61847936	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:61847936G>A	uc001jky.2	-	29	3701	c.3509C>T	c.(3508-3510)GCC>GTC	p.A1170V	ANK3_uc001jkw.2_Missense_Mutation_p.A304V|ANK3_uc009xpa.2_Missense_Mutation_p.A304V|ANK3_uc001jkx.2_Missense_Mutation_p.A348V|ANK3_uc010qih.1_Missense_Mutation_p.A1171V|ANK3_uc001jkz.3_Missense_Mutation_p.A1164V|ANK3_uc001jla.1_Missense_Mutation_p.A236V|ANK3_uc001jlb.1_Missense_Mutation_p.A688V	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1170					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TTTAGTTAGGGCACCCTCTGG	0.488												
EGR2	1959	broad.mit.edu	37	10	64575649	64575649	+	Silent	SNP	G	G	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:64575649G>C	uc010qim.1	-	2	295	c.141C>G	c.(139-141)CCC>CCG	p.P47P	EGR2_uc010qin.1_5'UTR|EGR2_uc001jmi.2_Silent_p.P47P|EGR2_uc010qio.1_Silent_p.P60P|EGR2_uc009xph.2_Silent_p.P47P	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	47					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					TCTGGTCAAAGGGGCCTCCCA	0.642												
JMJD1C	221037	broad.mit.edu	37	10	64974663	64974663	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:64974663C>T	uc001jmn.2	-	8	1564	c.1264G>A	c.(1264-1266)GCA>ACA	p.A422T	JMJD1C_uc001jml.2_Missense_Mutation_p.A203T|JMJD1C_uc001jmm.2_Missense_Mutation_p.A134T|JMJD1C_uc010qiq.1_Missense_Mutation_p.A240T|JMJD1C_uc009xpi.2_Missense_Mutation_p.A240T|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmp.1_Missense_Mutation_p.A134T	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	422					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCTTCTCCTGCCTTCTCATTA	0.368												
PBLD	64081	broad.mit.edu	37	10	70051980	70051980	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:70051980G>A	uc001jns.1	-	5	502	c.299C>T	c.(298-300)ACG>ATG	p.T100M	PBLD_uc001jnr.1_Missense_Mutation_p.T67M|PBLD_uc001jnt.1_Missense_Mutation_p.T100M|PBLD_uc001jnu.1_Missense_Mutation_p.T100M|PBLD_uc001jnv.1_Missense_Mutation_p.T67M	NM_022129	NP_071412	P30039	PBLD_HUMAN	MAWD binding protein isoform a	100					biosynthetic process		isomerase activity			skin(2)|ovary(1)	3						AAACGTGAGCGTGCTATTCAT	0.463												
HNRNPH3	3189	broad.mit.edu	37	10	70098402	70098402	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:70098402A>G	uc001jnw.3	+	4	623	c.394A>G	c.(394-396)ATG>GTG	p.M132V	HNRNPH3_uc001jnx.3_Intron|HNRNPH3_uc009xpu.2_Missense_Mutation_p.M1V|HNRNPH3_uc010qiv.1_Intron|HNRNPH3_uc001jny.3_Missense_Mutation_p.M83V	NM_012207	NP_036339	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3	132	Gly-rich.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			ovary(2)	2						GCGTGGAAGTATGTATGACAG	0.438												
DDX50	79009	broad.mit.edu	37	10	70696705	70696705	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:70696705G>A	uc001jou.2	+	12	1716	c.1609G>A	c.(1609-1611)GTT>ATT	p.V537I	DDX50_uc010qjc.1_Missense_Mutation_p.V537I	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	nucleolar protein GU2	537						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1						TCTGGCTTCCGTTTCTTACGC	0.388												
ADAMTS14	140766	broad.mit.edu	37	10	72496472	72496472	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:72496472A>G	uc001jrh.2	+	10	1522	c.1522A>G	c.(1522-1524)AGC>GGC	p.S508G	ADAMTS14_uc001jrg.2_Missense_Mutation_p.S511G|ADAMTS14_uc001jri.1_Missense_Mutation_p.S31G	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	508	Disintegrin.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						GCTGTGGTGCAGCCATCCTGA	0.587												
KIAA0913	23053	broad.mit.edu	37	10	75557154	75557154	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:75557154C>T	uc009xrl.2	+	18	3470	c.3438C>T	c.(3436-3438)AGC>AGT	p.S1146S	KIAA0913_uc001jve.2_Silent_p.S1151S|KIAA0913_uc001jvf.2_Silent_p.S1146S|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Silent_p.S581S|KIAA0913_uc010qkr.1_Silent_p.S569S|KIAA0913_uc001jvj.2_Silent_p.S569S|KIAA0913_uc009xrn.1_5'Flank	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	1146	Ser-rich.						zinc ion binding			breast(1)	1	Prostate(51;0.0112)					GCATTGACAGCAGTGCCCCTG	0.567												
MYST4	23522	broad.mit.edu	37	10	76790548	76790548	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:76790548T>C	uc001jwn.1	+	18	6459	c.5966T>C	c.(5965-5967)CTC>CCC	p.L1989P	MYST4_uc001jwo.1_Missense_Mutation_p.L1697P|MYST4_uc001jwp.1_Missense_Mutation_p.L1806P	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1989	Interaction with RUNX1 and RUNX2.|Met-rich.				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)					ATGAACACTCTCAACGCCATG	0.483			T	CREBBP	AML							
KCNMA1	3778	broad.mit.edu	37	10	78771771	78771771	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:78771771A>G	uc001jxn.2	-	18	2223	c.2046T>C	c.(2044-2046)GAT>GAC	p.D682D	KCNMA1_uc001jxj.2_Silent_p.D686D|KCNMA1_uc001jxk.1_Silent_p.D297D|KCNMA1_uc009xrt.1_Silent_p.D502D|KCNMA1_uc001jxl.1_Silent_p.D336D|KCNMA1_uc001jxo.2_Silent_p.D682D|KCNMA1_uc001jxm.2_Silent_p.D682D|KCNMA1_uc001jxq.2_Silent_p.D682D	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	682	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CTGTGATGTCATCATGACAGG	0.418												
DLG5	9231	broad.mit.edu	37	10	79581412	79581412	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:79581412C>T	uc001jzk.2	-	15	2900	c.2830G>A	c.(2830-2832)GGC>AGC	p.G944S	DLG5_uc001jzi.2_5'Flank|DLG5_uc001jzj.2_Intron|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.G548S	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	944					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CAGGTCCCGCCGCTGTTGGAG	0.607												
LDB3	11155	broad.mit.edu	37	10	88441340	88441340	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:88441340G>A	uc001kdv.2	+	4	492	c.469G>A	c.(469-471)GAG>AAG	p.E157K	LDB3_uc010qml.1_Missense_Mutation_p.E157K|LDB3_uc010qmm.1_Missense_Mutation_p.E157K|LDB3_uc001kdu.2_Intron|LDB3_uc009xsz.2_Intron|LDB3_uc001kdr.2_Intron|LDB3_uc009xsy.2_Missense_Mutation_p.E157K|LDB3_uc001kds.2_Missense_Mutation_p.E157K|LDB3_uc001kdt.2_RNA	NM_007078	NP_009009	O75112	LDB3_HUMAN	LIM domain binding 3 isoform 1	157						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			ovary(1)	1						CTCACTCGCCGAGGCCTCTGA	0.736												
GLUD1	2746	broad.mit.edu	37	10	88822563	88822563	+	Silent	SNP	A	A	G	rs144831842		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:88822563A>G	uc001keh.2	-	6	868	c.771T>C	c.(769-771)GGT>GGC	p.G257G	GLUD1_uc001keg.2_Silent_p.G90G|GLUD1_uc010qmp.1_Silent_p.G124G	NM_005271	NP_005262	P00367	DHE3_HUMAN	glutamate dehydrogenase 1 precursor	257					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding				0					L-Glutamic Acid(DB00142)|NADH(DB00157)	TGATGGGTTTACCAGTAACAC	0.418												
CH25H	9023	broad.mit.edu	37	10	90967020	90967020	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:90967020C>A	uc001kfz.2	-	1	52	c.30G>T	c.(28-30)CAG>CAT	p.Q10H		NM_003956	NP_003947	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	10					bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding				0		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		TGCAAAGGACCTGGGGGTCGG	0.637												
PLCE1	51196	broad.mit.edu	37	10	96014707	96014707	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:96014707T>A	uc001kjk.2	+	11	4089	c.3455T>A	c.(3454-3456)TTG>TAG	p.L1152*	PLCE1_uc010qnx.1_Nonsense_Mutation_p.L1152*|PLCE1_uc001kjm.2_Nonsense_Mutation_p.L844*	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	1152					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				GCCCACTCTTTGACCACAGCT	0.542												
TCTN3	26123	broad.mit.edu	37	10	97446824	97446824	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:97446824A>G	uc001klb.3	-	6	1073	c.829T>C	c.(829-831)TAC>CAC	p.Y277H	TCTN3_uc001kla.3_Missense_Mutation_p.Y126H|TCTN3_uc010qoi.1_Missense_Mutation_p.Y198H|TCTN3_uc001kld.2_Missense_Mutation_p.Y295H|TCTN3_uc009xux.1_Missense_Mutation_p.Y126H|TCTN3_uc009xuy.1_RNA	NM_015631	NP_056446	Q6NUS6	TECT3_HUMAN	tectonic 3 isoform a precursor	277	Extracellular (Potential).				apoptosis	integral to membrane					0		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		AAGTTATAGTAAGAGGCAGCA	0.423												
RRP12	23223	broad.mit.edu	37	10	99126211	99126211	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:99126211C>T	uc001knf.2	-	28	3522	c.3383G>A	c.(3382-3384)CGA>CAA	p.R1128Q	RRP12_uc001kne.2_Missense_Mutation_p.R143Q|RRP12_uc009xvl.2_Missense_Mutation_p.R245Q|RRP12_uc009xvm.2_Missense_Mutation_p.R846Q|RRP12_uc010qou.1_Missense_Mutation_p.R1067Q|RRP12_uc009xvn.2_Missense_Mutation_p.R1028Q	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	1128						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		ACCCAGGACTCGTTGGGCCAC	0.627												
CRTAC1	55118	broad.mit.edu	37	10	99677257	99677257	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:99677257C>A	uc001kou.1	-	5	1071	c.715G>T	c.(715-717)GGG>TGG	p.G239W	CRTAC1_uc001kov.2_Missense_Mutation_p.G228W|CRTAC1_uc001kot.1_Missense_Mutation_p.G29W	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1 precursor	239						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)		CTCTGCATACCTGTATATTTG	0.577												
NKX2-3	159296	broad.mit.edu	37	10	101294790	101294790	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:101294790C>T	uc009xwj.2	+	2	606	c.407C>T	c.(406-408)GCG>GTG	p.A136V		NM_145285	NP_660328	Q8TAU0	NKX23_HUMAN	NK2 transcription factor related, locus 3	136						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.45e-08)		GACTGCAAGGCGGCGGAGGAG	0.642												
COX15	1355	broad.mit.edu	37	10	101486818	101486818	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:101486818G>A	uc001kqb.3	-	4	1106	c.489C>T	c.(487-489)TAC>TAT	p.Y163Y	COX15_uc001kqc.3_Silent_p.Y163Y|COX15_uc010qpj.1_5'UTR	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN	COX15 homolog isoform 1	163	Helical; (Potential).				heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		CAGGCAGGATGTACACAAGGC	0.517												
CUTC	51076	broad.mit.edu	37	10	101514331	101514332	+	Missense_Mutation	DNP	CA	CA	TG			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:101514331_101514332CA>TG	uc001kqd.3	+	8	795_796	c.647_648CA>TG	c.(646-648)TCA>TTG	p.S216L	CUTC_uc001kqe.3_RNA	NM_015960	NP_057044	Q9NTM9	CUTC_HUMAN	cutC copper transporter homolog	216					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(1)	1		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		CTTGAGGGTTCAGGTGCTACAG	0.356												
ABCC2	1244	broad.mit.edu	37	10	101590172	101590172	+	Missense_Mutation	SNP	G	G	A	rs149359610		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:101590172G>A	uc001kqf.2	+	20	2868	c.2729G>A	c.(2728-2730)CGT>CAT	p.R910H		NM_000392	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP),	910	Cytoplasmic (By similarity).					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AACAGCTTTCGTCGAACACTT	0.478												
ABCC2	1244	broad.mit.edu	37	10	101590491	101590491	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:101590491G>A	uc001kqf.2	+	21	2905	c.2766G>A	c.(2764-2766)AGG>AGA	p.R922R		NM_000392	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP),	922	Cytoplasmic (By similarity).					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CCAATGGCAGGCATCTGAAGT	0.468												
CPN1	1369	broad.mit.edu	37	10	101835823	101835823	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:101835823C>T	uc001kql.2	-	2	525	c.265G>A	c.(265-267)GAA>AAA	p.E89K		NM_001308	NP_001299	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1 precursor	89	Catalytic.	Zinc; catalytic.			proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CCCAACGCTTCGTTGCCGTGC	0.562												
CWF19L1	55280	broad.mit.edu	37	10	101997844	101997844	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:101997844T>A	uc001kqq.1	-	11	1276	c.1189A>T	c.(1189-1191)AAG>TAG	p.K397*	CWF19L1_uc001kqs.1_Nonsense_Mutation_p.K149*|CWF19L1_uc001kqr.1_Nonsense_Mutation_p.K397*|CWF19L1_uc001kqt.1_Nonsense_Mutation_p.K101*|CWF19L1_uc010qpn.1_Nonsense_Mutation_p.K260*|SNORA12_uc001kqu.1_5'Flank	NM_018294	NP_060764	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control	397							catalytic activity				0		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		CCTCGACTCTTAAAGAACCGT	0.483												
C10orf76	79591	broad.mit.edu	37	10	103799868	103799868	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:103799868C>T	uc009xwy.1	-	2	106	c.4G>A	c.(4-6)GCA>ACA	p.A2T	C10orf76_uc001kui.2_Missense_Mutation_p.A2T	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	hypothetical protein LOC79591	2						integral to membrane					0		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TCTACCTGTGCCATGGTTAGA	0.294												
AS3MT	57412	broad.mit.edu	37	10	104632870	104632870	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:104632870A>C	uc001kwk.2	+	5	478	c.338A>C	c.(337-339)AAG>ACG	p.K113T	AS3MT_uc001kwj.2_Missense_Mutation_p.K115T|AS3MT_uc009xxh.2_Missense_Mutation_p.K113T	NM_020682	NP_065733	Q9HBK9	AS3MT_HUMAN	arsenic (+3 oxidation state) methyltransferase	113					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity				0		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		GTGGCTGAAAAGTATCTTGAC	0.323												
INA	9118	broad.mit.edu	37	10	105037797	105037797	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:105037797G>A	uc001kws.2	+	1	878	c.829G>A	c.(829-831)GCT>ACT	p.A277T	uc001kwr.2_5'Flank|INA_uc009xxj.2_Missense_Mutation_p.A277T	NM_032727	NP_116116	Q16352	AINX_HUMAN	internexin neuronal intermediate filament	277	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)		GTCCCTGGCCGCTAAGAACCT	0.657												
SH3PXD2A	9644	broad.mit.edu	37	10	105361647	105361647	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:105361647A>G	uc001kxj.1	-	14	3384	c.3244T>C	c.(3244-3246)TAC>CAC	p.Y1082H	SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.Y917H|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.Y959H|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.Y917H|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.Y1025H	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	SH3 multiple domains 1	1110	SH3 5.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding				0		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ATCTGGCAGTACCACCAGCCA	0.567												
SORCS1	114815	broad.mit.edu	37	10	108923733	108923733	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:108923733G>A	uc001kym.2	-	1	560	c.552C>T	c.(550-552)AAC>AAT	p.N184N	SORCS1_uc001kyl.2_Silent_p.N184N|SORCS1_uc009xxs.2_Silent_p.N184N|SORCS1_uc001kyn.1_Silent_p.N184N|SORCS1_uc001kyo.2_Silent_p.N184N	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	184	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)		TCACGCTGCTGTTGTGGCCAG	0.557												
HABP2	3026	broad.mit.edu	37	10	115343921	115343921	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:115343921A>C	uc001lai.3	+	11	1355	c.1252A>C	c.(1252-1254)AAG>CAG	p.K418Q	HABP2_uc010qrz.1_RNA	NM_004132	NP_004123	Q14520	HABP2_HUMAN	hyaluronan binding protein 2 preproprotein	418	Peptidase S1.				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)		GCTCAAGTTAAAGCCAGTGGA	0.507												
NRAP	4892	broad.mit.edu	37	10	115377303	115377303	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:115377303G>T	uc001laj.2	-	26	3048	c.2884C>A	c.(2884-2886)CGT>AGT	p.R962S	NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.R927S|NRAP_uc001lal.3_Missense_Mutation_p.R962S	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	962	Nebulin 24.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GGATGCTGACGGTACTTCTTC	0.403												
NRAP	4892	broad.mit.edu	37	10	115383322	115383322	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:115383322A>G	uc001laj.2	-	23	2587	c.2423T>C	c.(2422-2424)CTG>CCG	p.L808P	NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.L773P|NRAP_uc001lal.3_Missense_Mutation_p.L808P	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	808	Nebulin 20.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		tttggctgccaggaaggtcaa	0.398												
VWA2	340706	broad.mit.edu	37	10	116037686	116037686	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:116037686C>T	uc001lbl.1	+	7	901	c.580C>T	c.(580-582)CAT>TAT	p.H194Y	VWA2_uc001lbk.1_Missense_Mutation_p.H194Y|VWA2_uc009xyf.1_5'UTR	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	194	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)		GGAGGAGCTGCATGCACTGGC	0.617												
PNLIPRP1	5407	broad.mit.edu	37	10	118360629	118360629	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:118360629C>T	uc001lco.1	+	10	997	c.979C>T	c.(979-981)CAC>TAC	p.H327Y	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.H327Y	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1 precursor	327					lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)		ACAGATGGGTCACTATGCTGA	0.443												
SEC23IP	11196	broad.mit.edu	37	10	121658058	121658058	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:121658058A>G	uc001leu.1	+	2	355	c.283A>G	c.(283-285)AAT>GAT	p.N95D	SEC23IP_uc010qtc.1_Intron	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125	95	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TCCTTTTGGGAATATTGGACA	0.473												
PLEKHA1	59338	broad.mit.edu	37	10	124186520	124186520	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:124186520G>A	uc001lge.1	+	11	996	c.873G>A	c.(871-873)CAG>CAA	p.Q291Q	PLEKHA1_uc001lgf.1_Silent_p.Q291Q|PLEKHA1_uc001lgg.1_Silent_p.Q291Q|PLEKHA1_uc001lgh.2_Silent_p.Q291Q	NM_001001974	NP_001001974	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A	291					B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			kidney(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTGTAGCACAGCGGGGTCCCG	0.488												
PLEKHA1	59338	broad.mit.edu	37	10	124189240	124189240	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:124189240T>C	uc001lge.1	+	12	1124	c.1001T>C	c.(1000-1002)GTC>GCC	p.V334A	PLEKHA1_uc001lgf.1_3'UTR|PLEKHA1_uc001lgg.1_Missense_Mutation_p.V334A	NM_001001974	NP_001001974	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A	334					B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			kidney(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AACTCTTTGGTCTCAACCTTT	0.542												
HTRA1	5654	broad.mit.edu	37	10	124249045	124249045	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:124249045G>A	uc001lgj.2	+	3	808	c.680G>A	c.(679-681)CGG>CAG	p.R227Q		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1 precursor	227	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				AACAAGCACCGGGTCAAAGTT	0.493												
CUZD1	50624	broad.mit.edu	37	10	124596473	124596473	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:124596473G>A	uc001lgq.2	-	5	1023	c.691C>T	c.(691-693)CGT>TGT	p.R231C	CUZD1_uc001lgp.2_5'UTR|CUZD1_uc009yad.2_5'UTR|CUZD1_uc009yaf.2_Intron|CUZD1_uc001lgr.2_5'UTR|CUZD1_uc010qty.1_Intron|CUZD1_uc009yae.2_Intron|CUZD1_uc001lgs.2_Missense_Mutation_p.R231C|CUZD1_uc010qtz.1_Missense_Mutation_p.R231C	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1 precursor	231	Extracellular (Potential).|CUB 2.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				ovary(1)|skin(1)	2		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		GGAGTCACACGGCCACAGACT	0.463												
ZRANB1	54764	broad.mit.edu	37	10	126631072	126631072	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:126631072C>T	uc001lic.2	+	1	381	c.10C>T	c.(10-12)CGT>TGT	p.R4C	ZRANB1_uc010qug.1_Missense_Mutation_p.R30C	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	4	RanBP2-type 1.				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		AATGTCAGAACGTGGAATTAA	0.388												
FANK1	92565	broad.mit.edu	37	10	127697821	127697821	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:127697821G>A	uc001ljh.3	+	10	1062	c.958G>A	c.(958-960)GTT>ATT	p.V320I	FANK1_uc009yan.2_Missense_Mutation_p.V346I|FANK1_uc001lji.2_Missense_Mutation_p.V314I	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains	320						cytoplasm|nucleus				ovary(1)	1		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				AATGGCCAGAGTTTTTGACAG	0.408												
ADAM12	8038	broad.mit.edu	37	10	127726832	127726832	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:127726832G>A	uc001ljk.2	-	20	2749	c.2336C>T	c.(2335-2337)CCG>CTG	p.P779L	ADAM12_uc010qul.1_Missense_Mutation_p.P730L	NM_003474	NP_003465	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12 isoform 1	779	Cytoplasmic (Potential).				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GGAATCTGGCGGCTTCCTCAT	0.557												
MKI67	4288	broad.mit.edu	37	10	129903029	129903029	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:129903029G>A	uc001lke.2	-	13	7270	c.7075C>T	c.(7075-7077)CGG>TGG	p.R2359W	MKI67_uc001lkf.2_Missense_Mutation_p.R1999W|MKI67_uc009yav.1_Missense_Mutation_p.R1934W|MKI67_uc009yaw.1_Missense_Mutation_p.R1509W	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2359	16 X 122 AA approximate repeats.|12.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTCTTGGGCCGTTGCTTTGTG	0.502												
STK32C	282974	broad.mit.edu	37	10	134041580	134041580	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:134041580A>G	uc001lle.1	-	3	511	c.371T>C	c.(370-372)ATG>ACG	p.M124T	STK32C_uc001lld.1_Missense_Mutation_p.M7T|STK32C_uc010quu.1_Missense_Mutation_p.M137T|STK32C_uc009ybc.1_Missense_Mutation_p.M7T|STK32C_uc009ybd.1_Missense_Mutation_p.M7T|STK32C_uc001llb.2_5'UTR|STK32C_uc001llc.1_RNA	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	124	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|breast(1)	5		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CTGCTTGTTCATGTACTTCAT	0.607												
ANO9	338440	broad.mit.edu	37	11	432030	432030	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:432030G>A	uc001lpi.2	-	5	460	c.375C>T	c.(373-375)TTC>TTT	p.F125F	ANO9_uc001lph.2_5'Flank|ANO9_uc010qvv.1_5'UTR	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	125	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4						TCATGACAACGAAGTTCACGA	0.622												
PTDSS2	81490	broad.mit.edu	37	11	489433	489433	+	Silent	SNP	G	G	A	rs75188178	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:489433G>A	uc001lpj.2	+	9	1064	c.888G>A	c.(886-888)ACG>ACA	p.T296T		NM_030783	NP_110410	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	296	Cytoplasmic (Potential).					integral to membrane					0		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	TCCAGTTCACGCCGTACAGCT	0.667												
EPS8L2	64787	broad.mit.edu	37	11	724757	724757	+	Silent	SNP	C	C	T	rs139122869	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:724757C>T	uc001lqt.2	+	16	1735	c.1488C>T	c.(1486-1488)TAC>TAT	p.Y496Y	EPS8L2_uc001lqu.2_Silent_p.Y496Y|EPS8L2_uc010qwk.1_Silent_p.Y512Y|EPS8L2_uc001lqv.2_Silent_p.Y451Y|EPS8L2_uc001lqw.2_Silent_p.Y108Y|EPS8L2_uc001lqx.2_Silent_p.Y108Y|EPS8L2_uc001lqy.2_Silent_p.Y4Y	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	epidermal growth factor receptor pathway	496	SH3.					cytoplasm				pancreas(1)	1		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGCCAAGTACGTCAAGATCC	0.602												
SLC25A22	79751	broad.mit.edu	37	11	792014	792014	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:792014G>A	uc001lri.2	-	10	1215	c.873C>T	c.(871-873)CGC>CGT	p.R291R	CEND1_uc001lrh.1_5'Flank|SLC25A22_uc009yci.2_Silent_p.R291R|SLC25A22_uc001lrj.2_Silent_p.R291R	NM_024698	NP_078974	Q9H936	GHC1_HUMAN	mitochondrial glutamate carrier 1	291	Solcar 3.					integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity				0		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	TGACCAGCGCGCGGCAGTAGG	0.687												
MUC5B	727897	broad.mit.edu	37	11	1268464	1268464	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:1268464G>A	uc009ycr.1	+	50	12064	c.11938G>A	c.(11938-11940)GCC>ACC	p.A3980T	MUC5B_uc001ltb.2_Missense_Mutation_p.A3455T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	3452	7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.			Missing (in Ref. 6; AAB61398).	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)		GAACACCACGGCCACCACACA	0.542												
MOB2	81532	broad.mit.edu	37	11	1491525	1491525	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:1491525G>A	uc010qwz.1	-	5	874	c.684C>T	c.(682-684)ACC>ACT	p.T228T	MOB2_uc001lto.1_Silent_p.T112T|MOB2_uc001ltp.1_5'UTR|MOB2_uc001ltq.1_Silent_p.T191T|MOB2_uc010qwy.1_Silent_p.T112T	NM_053005	NP_443731	Q70IA6	MOB2_HUMAN	HCCA2 protein	197						nucleus|perinuclear region of cytoplasm	metal ion binding				0						CCATGATGGCGGTCTCTTTGG	0.667												
MOB2	81532	broad.mit.edu	37	11	1501680	1501680	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:1501680C>A	uc010qwz.1	-	3	498	c.308G>T	c.(307-309)AGC>ATC	p.S103I	MOB2_uc001lto.1_5'UTR|MOB2_uc001ltp.1_5'UTR|MOB2_uc001ltq.1_Missense_Mutation_p.S66I|MOB2_uc010qwy.1_5'UTR	NM_053005	NP_443731	Q70IA6	MOB2_HUMAN	HCCA2 protein	72						nucleus|perinuclear region of cytoplasm	metal ion binding				0						GGAGATGGTGCTATACTGCAG	0.567												
CD81	975	broad.mit.edu	37	11	2411682	2411682	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:2411682G>A	uc001lwf.1	+	2	340	c.107G>A	c.(106-108)CGC>CAC	p.R36H	CD81_uc001lwg.1_Missense_Mutation_p.R29H	NM_004356	NP_004347	P60033	CD81_HUMAN	CD81 antigen	36	Extracellular (Potential).				activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding				0		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTGTGGCTCCGCCATGACCCG	0.627												
CD81	975	broad.mit.edu	37	11	2417118	2417118	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:2417118G>T	uc001lwf.1	+	6	712	c.479G>T	c.(478-480)AGC>ATC	p.S160I	CD81_uc001lwg.1_Missense_Mutation_p.S153I|CD81_uc001lwh.1_5'Flank	NM_004356	NP_004347	P60033	CD81_HUMAN	CD81 antigen	160	Extracellular (Potential).				activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding				0		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGTGGCTCCAGCACACTGACT	0.612												
TRPM5	29850	broad.mit.edu	37	11	2436251	2436251	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:2436251C>T	uc001lwm.3	-	10	1515	c.1506G>A	c.(1504-1506)ACG>ACA	p.T502T	TRPM5_uc010qxl.1_Silent_p.T502T|TRPM5_uc009ydn.2_Silent_p.T504T	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel,	502	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		ACTTCTGGCCCGTGGGCCGCT	0.711												
OSBPL5	114879	broad.mit.edu	37	11	3140787	3140787	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:3140787G>A	uc001lxk.2	-	7	839	c.681C>T	c.(679-681)TCC>TCT	p.S227S	OSBPL5_uc010qxq.1_Silent_p.S138S|OSBPL5_uc009ydw.2_Silent_p.S159S|OSBPL5_uc001lxl.2_Silent_p.S159S|OSBPL5_uc009ydx.2_Silent_p.S251S	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	oxysterol-binding protein-like protein 5 isoform	227	PH.				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)		CATCTGACTCGGAGGCGGCCC	0.632												
STIM1	6786	broad.mit.edu	37	11	4104524	4104524	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:4104524C>T	uc001lyv.2	+	10	1838	c.1270C>T	c.(1270-1272)CGG>TGG	p.R424W	STIM1_uc009yef.2_Missense_Mutation_p.R424W|STIM1_uc009yeg.2_Missense_Mutation_p.R251W	NM_003156	NP_003147	Q13586	STIM1_HUMAN	stromal interaction molecule 1 precursor	424	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)		AGCAGCATTGCGGGAGCGCCT	0.557												
OR51B4	79339	broad.mit.edu	37	11	5323054	5323054	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:5323054G>A	uc010qza.1	-	1	123	c.123C>T	c.(121-123)GGC>GGT	p.G41G	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B,	41	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGAAGAGTGCCATTTCCAA	0.498												
OR52E4	390081	broad.mit.edu	37	11	5905736	5905736	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:5905736G>T	uc010qzs.1	+	1	214	c.214G>T	c.(214-216)GAT>TAT	p.D72Y	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCTATGATTGATCTGGGTCT	0.448												
OR52E4	390081	broad.mit.edu	37	11	5906312	5906312	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:5906312C>T	uc010qzs.1	+	1	790	c.790C>T	c.(790-792)CGT>TGT	p.R264C	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	264	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGACACATCGTTTTGGCCA	0.428												
CNGA4	1262	broad.mit.edu	37	11	6262667	6262667	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:6262667G>A	uc001mco.2	+	5	1031	c.924G>A	c.(922-924)CAG>CAA	p.Q308Q	CNGA4_uc010raa.1_Silent_p.Q77Q|CNGA4_uc001mcn.2_Silent_p.Q268Q	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	308	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGGTATCAGCACCTGCAGA	0.547												
OR2D2	120776	broad.mit.edu	37	11	6913404	6913404	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:6913404T>C	uc010rau.1	-	1	328	c.328A>G	c.(328-330)ACC>GCC	p.T110A		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCGCACTGGGTACACCCAAAA	0.478												
SYT9	143425	broad.mit.edu	37	11	7324616	7324616	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:7324616G>A	uc001mfe.2	+	2	729	c.492G>A	c.(490-492)TCG>TCA	p.S164S	SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	synaptotagmin IX	164	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|large_intestine(1)	3				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CAACCTCGTCGGCCCGGTCAG	0.587												
FAR1	84188	broad.mit.edu	37	11	13734540	13734540	+	Silent	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:13734540T>C	uc001mld.2	+	8	1070	c.915T>C	c.(913-915)TGT>TGC	p.C305C	FAR1_uc009ygp.2_Silent_p.C305C	NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	305					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			ovary(1)|skin(1)	2						TGTATAATTGTACAACAGGCA	0.353												
PIK3C2A	5286	broad.mit.edu	37	11	17111327	17111327	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:17111327C>T	uc001mmq.3	-	32	5085	c.5019G>A	c.(5017-5019)GAG>GAA	p.E1673E	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Silent_p.E1293E|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	1673					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)	ATTTAACCGTCTCTTTGCTCA	0.398												
ABCC8	6833	broad.mit.edu	37	11	17419240	17419240	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:17419240G>A	uc001mnc.2	-	31	3984	c.3858C>T	c.(3856-3858)TAC>TAT	p.Y1286Y		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	1286	Helical; Name=17; (By similarity).|ABC transmembrane type-1 2.				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)	CCATTAGGGCGTAGGTAAGGC	0.632												
MYOD1	4654	broad.mit.edu	37	11	17741370	17741370	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:17741370C>T	uc001mni.2	+	1	261	c.41C>T	c.(40-42)ACG>ATG	p.T14M		NM_002478	NP_002469	P15172	MYOD1_HUMAN	myogenic differentiation 1	14					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						GTAGACCTGACGGCCCCCGAC	0.652												
KCNC1	3746	broad.mit.edu	37	11	17793391	17793391	+	Silent	SNP	C	C	T	rs147271572	by1000genomes	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:17793391C>T	uc001mnk.3	+	2	805	c.750C>T	c.(748-750)GGC>GGT	p.G250G	KCNC1_uc009yhc.1_Silent_p.G250G	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	250	Helical; Name=Segment S2; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1						ACATCGAGGGCGTCTGTGTGG	0.537												
MRGPRX3	117195	broad.mit.edu	37	11	18158919	18158919	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:18158919G>A	uc001mnu.2	+	3	531	c.170G>A	c.(169-171)CGC>CAC	p.R57H		NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	57	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						TGCCGCATGCGCAGGAACGCT	0.577												
MRGPRX2	117194	broad.mit.edu	37	11	19076991	19076991	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:19076991C>T	uc001mph.2	-	2	1047	c.959G>A	c.(958-960)GGC>GAC	p.G320D		NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	320	Cytoplasmic (Potential).				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			ovary(1)	1						CTCCGGGGTGCCCTGACGGAA	0.562												
LUZP2	338645	broad.mit.edu	37	11	24759794	24759794	+	Silent	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:24759794C>A	uc001mqs.2	+	4	513	c.279C>A	c.(277-279)GCC>GCA	p.A93A	LUZP2_uc009yif.2_Silent_p.A7A|LUZP2_uc009yig.2_Silent_p.A93A	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2 precursor	93	Potential.					extracellular region				ovary(1)|skin(1)	2						TTCAGGAGGCCCTGCAAAATC	0.363												
FBXO3	26273	broad.mit.edu	37	11	33790478	33790478	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:33790478A>G	uc001muz.2	-	3	305	c.277T>C	c.(277-279)TAT>CAT	p.Y93H	FBXO3_uc001muy.2_5'UTR|FBXO3_uc009ykb.2_RNA|FBXO3_uc001mva.1_Missense_Mutation_p.Y93H|FBXO3_uc001mvb.1_Missense_Mutation_p.Y88H|FBXO3_uc010rek.1_RNA	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN	F-box only protein 3 isoform 1	93					proteolysis	nucleus	ubiquitin-protein ligase activity			pancreas(1)	1		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		ATAGCAGCATAATGGTCAATG	0.393												
CD44	960	broad.mit.edu	37	11	35250752	35250752	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:35250752G>A	uc001mvu.2	+	18	2535	c.2101G>A	c.(2101-2103)GGA>AGA	p.G701R	CD44_uc001mvv.2_Missense_Mutation_p.G658R|CD44_uc001mvw.2_Missense_Mutation_p.G452R|CD44_uc001mvx.2_Missense_Mutation_p.G320R|CD44_uc001mvy.2_Missense_Mutation_p.R113Q|CD44_uc001mwc.3_Missense_Mutation_p.G388R|CD44_uc010rer.1_Missense_Mutation_p.G299R|CD44_uc009ykh.2_RNA	NM_000610	NP_000601	P16070	CD44_HUMAN	CD44 antigen isoform 1 precursor	701	Cytoplasmic (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)	TGGACTCAACGGAGAGGCCAG	0.458												
CHST1	8534	broad.mit.edu	37	11	45672030	45672030	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:45672030G>A	uc001mys.1	-	4	1115	c.444C>T	c.(442-444)ACC>ACT	p.T148T		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	148	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		AGATCCTGTCGGTGGTGTGGT	0.687												
PEX16	9409	broad.mit.edu	37	11	45935969	45935969	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:45935969G>A	uc001nbu.2	-	7	904	c.592C>T	c.(592-594)CGG>TGG	p.R198W	PEX16_uc001nbt.2_Missense_Mutation_p.R198W	NM_004813	NP_004804	Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16 isoform 1	198	Cytoplasmic (Potential).				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			ovary(2)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.223)		TGCTGCTGCCGTCCCTCCCGC	0.682												
AMBRA1	55626	broad.mit.edu	37	11	46564318	46564318	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:46564318A>C	uc010rgu.1	-	7	1609	c.1249T>G	c.(1249-1251)TCT>GCT	p.S417A	AMBRA1_uc010rgt.1_5'UTR|AMBRA1_uc009ylc.1_Missense_Mutation_p.S417A|AMBRA1_uc001ncu.1_Missense_Mutation_p.S327A|AMBRA1_uc001ncv.2_Missense_Mutation_p.S327A|AMBRA1_uc001ncw.2_Missense_Mutation_p.S327A|AMBRA1_uc001ncx.2_Missense_Mutation_p.S417A	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	417					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GTCCACTCAGATCCTGTCAAC	0.592												
RAPSN	5913	broad.mit.edu	37	11	47464296	47464296	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:47464296C>A	uc001nfi.1	-	3	816	c.602G>T	c.(601-603)AGC>ATC	p.S201I	RAPSN_uc001nfj.1_Missense_Mutation_p.S201I|RAPSN_uc009yls.1_Missense_Mutation_p.S201I	NM_005055	NP_005046	Q13702	RAPSN_HUMAN	43 kD receptor-associated protein of the synapse	201					synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding			ovary(1)	1						GTACTTCAGGCTCCAGCCTTT	0.612												
NUP160	23279	broad.mit.edu	37	11	47828658	47828658	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:47828658A>T	uc001ngm.2	-	19	2495	c.2410T>A	c.(2410-2412)TTA>ATA	p.L804I	NUP160_uc009ylw.2_RNA	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	804					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						GAGTCTGTTAATTCCAGTACT	0.363												
OR4X1	390113	broad.mit.edu	37	11	48285771	48285771	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:48285771G>A	uc010rht.1	+	1	359	c.359G>A	c.(358-360)CGC>CAC	p.R120H		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X,	120	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3						GCCTATGACCGCTATGTGGCC	0.542												
OR4C13	283092	broad.mit.edu	37	11	49974702	49974702	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:49974702C>A	uc010rhz.1	+	1	728	c.728C>A	c.(727-729)ACA>AAA	p.T243K		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	243	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						TCCCACATCACAGTTGTCATC	0.458												
OR5AP2	338675	broad.mit.edu	37	11	56409492	56409492	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:56409492C>T	uc001njb.1	-	1	424	c.424G>A	c.(424-426)GTG>ATG	p.V142M		NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP,	142	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						CTCCCAGACACGAGAACTGGG	0.488												
SSRP1	6749	broad.mit.edu	37	11	57093923	57093923	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:57093923A>G	uc001njt.2	-	17	2355	c.2088T>C	c.(2086-2088)ACT>ACC	p.T696T	TNKS1BP1_uc001njs.2_5'Flank|TNKS1BP1_uc009ymd.1_5'Flank	NM_003146	NP_003137	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	696	Ser-rich.				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			ovary(2)	2						AGCTGGGGGGAGTACTGGCTA	0.557												
PRG3	10394	broad.mit.edu	37	11	57147021	57147021	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:57147021G>A	uc001njv.1	-	3	431	c.321C>T	c.(319-321)TGC>TGT	p.C107C		NM_006093	NP_006084	Q9Y2Y8	PRG3_HUMAN	proteoglycan 3 precursor	107	C-type lectin.				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding				0						GGCAGATCTTGCACCTTGGAC	0.537												
RTN4RL2	349667	broad.mit.edu	37	11	57235469	57235469	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:57235469G>A	uc010rjt.1	+	2	419	c.419G>A	c.(418-420)CGC>CAC	p.R140H		NM_178570	NP_848665	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2 precursor	140	LRR 4.				axon regeneration	anchored to plasma membrane	receptor activity				0						CATTTGTACCGCTGCCAGCTC	0.657												
SERPING1	710	broad.mit.edu	37	11	57373915	57373915	+	Silent	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:57373915C>A	uc001nkp.1	+	6	1115	c.924C>A	c.(922-924)ACC>ACA	p.T308T	SERPING1_uc001nkq.1_Silent_p.T308T|SERPING1_uc010rju.1_Silent_p.T256T|SERPING1_uc010rjv.1_Silent_p.T313T|SERPING1_uc001nkr.1_Silent_p.T308T|SERPING1_uc009ymi.1_Silent_p.T317T|SERPING1_uc009ymj.1_Silent_p.T308T|SERPING1_uc001nks.1_5'UTR	NM_000062	NP_000053	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G, member 1	308					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)	1						CCAAGAAAACCAGAATGGAAC	0.433									Hereditary_Angioedema			
CTNND1	1500	broad.mit.edu	37	11	57582936	57582936	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:57582936C>T	uc001nmc.3	+	19	3343	c.2772C>T	c.(2770-2772)GGC>GGT	p.G924G	CTNND1_uc001nlh.1_Silent_p.G924G|CTNND1_uc001nlu.3_Silent_p.G817G|CTNND1_uc001nlt.3_Silent_p.G817G|CTNND1_uc001nls.3_Silent_p.G796G|CTNND1_uc001nlw.3_Silent_p.G817G|CTNND1_uc001nmf.3_Silent_p.G924G|CTNND1_uc001nmd.3_Silent_p.G870G|CTNND1_uc001nlk.3_Silent_p.G870G|CTNND1_uc001nme.3_Silent_p.G918G|CTNND1_uc001nll.3_Silent_p.G864G|CTNND1_uc001nmg.3_Silent_p.G864G|CTNND1_uc001nlj.3_Silent_p.G864G|CTNND1_uc001nlr.3_Silent_p.G864G|CTNND1_uc001nlp.3_Silent_p.G843G|CTNND1_uc001nlx.3_Silent_p.G601G|CTNND1_uc001nlz.3_Silent_p.G601G|CTNND1_uc009ymn.2_Silent_p.G595G|CTNND1_uc001nlm.3_Silent_p.G918G|CTNND1_uc001nly.3_Silent_p.G595G|CTNND1_uc001nmb.3_Silent_p.G595G|CTNND1_uc001nma.3_Silent_p.G574G|CTNND1_uc001nmi.3_Silent_p.G823G|CTNND1_uc001nmh.3_Silent_p.G918G|CTNND1_uc001nlq.3_Silent_p.G823G|CTNND1_uc001nln.3_Silent_p.G918G|CTNND1_uc001nli.3_Silent_p.G897G|CTNND1_uc001nlo.3_Silent_p.G817G|CTNND1_uc001nlv.3_Silent_p.G817G	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	924					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)				GGGATCTAGGCGACATGGAGC	0.388												
OR4D11	219986	broad.mit.edu	37	11	59271831	59271831	+	Silent	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:59271831C>A	uc001noa.1	+	1	783	c.783C>A	c.(781-783)CCC>CCA	p.P261P		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						ATGCCCGGCCCTTCACTGCCC	0.552												
OR4D9	390199	broad.mit.edu	37	11	59282549	59282549	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:59282549T>A	uc010rkv.1	+	1	164	c.164T>A	c.(163-165)CTT>CAT	p.L55H		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D,	55	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GAATCTCACCTTCATACGCCC	0.443												
CCDC86	79080	broad.mit.edu	37	11	60615436	60615436	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:60615436G>A	uc001nqa.2	+	2	967	c.798G>A	c.(796-798)TCG>TCA	p.S266S	CCDC86_uc001nqb.2_Silent_p.S10S	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	266					interspecies interaction between organisms	nucleus					0						TGCGCACATCGTGGCAGCGGA	0.627												
ZP1	22917	broad.mit.edu	37	11	60640952	60640952	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:60640952A>G	uc001nqd.2	+	8	1365	c.1345A>G	c.(1345-1347)AAC>GAC	p.N449D	ZP1_uc001nqe.2_Missense_Mutation_p.N156D	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 precursor	449	Extracellular (Potential).|ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0						GACAGACCCCAACCTGGTCCT	0.632												
SLC15A3	51296	broad.mit.edu	37	11	60704755	60704755	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:60704755C>A	uc001nqn.2	-	8	1916	c.1682G>T	c.(1681-1683)GGA>GTA	p.G561V	SLC15A3_uc001nqo.2_3'UTR	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	solute carrier family 15, member 3	561					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity				0						CTCATAGCGTCCAGCGATCCA	0.597												
SLC15A3	51296	broad.mit.edu	37	11	60714281	60714281	+	Missense_Mutation	SNP	C	C	T	rs140918009		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:60714281C>T	uc001nqn.2	-	2	805	c.571G>A	c.(571-573)GGC>AGC	p.G191S	SLC15A3_uc001nqo.2_Missense_Mutation_p.G191S	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	solute carrier family 15, member 3	191					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity				0						GCGTCGCGGCCGAGATCCATC	0.587												
DDB1	1642	broad.mit.edu	37	11	61094348	61094348	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:61094348G>A	uc001nrc.3	-	5	793	c.567C>T	c.(565-567)CAC>CAT	p.H189H	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Silent_p.H189H|DDB1_uc010rlg.1_RNA|DDB1_uc001nrd.2_Silent_p.H189H|DDB1_uc009ynl.1_Silent_p.H76H	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	189	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4						AGGTTTTTACGTGCCGCCCCT	0.512								NER				
TMEM138	51524	broad.mit.edu	37	11	61136177	61136177	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:61136177G>T	uc001nrl.1	+	5	661	c.485G>T	c.(484-486)AGG>ATG	p.R162M	TMEM138_uc001nrm.2_3'UTR	NM_016464	NP_057548	Q9NPI0	TM138_HUMAN	transmembrane protein 138	162						integral to membrane					0						CAAGTTCGAAGGTGACCTCTT	0.493												
TUT1	64852	broad.mit.edu	37	11	62343367	62343367	+	Silent	SNP	C	C	T	rs149885942		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:62343367C>T	uc001nto.2	-	9	1976	c.1938G>A	c.(1936-1938)CCG>CCA	p.P646P	EEF1G_uc001ntm.1_5'Flank|EEF1G_uc010rlw.1_5'Flank|TUT1_uc001ntp.1_Silent_p.P142P	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6	608					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2						GTAAAGGGATCGGCGTAGCAG	0.627												
TUT1	64852	broad.mit.edu	37	11	62346056	62346056	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:62346056G>A	uc001nto.2	-	5	1289	c.1251C>T	c.(1249-1251)CAC>CAT	p.H417H	TUT1_uc001ntp.1_5'Flank	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6	379					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2						AGACATCACCGTGGAGACCTG	0.393												
STIP1	10963	broad.mit.edu	37	11	63960668	63960668	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:63960668A>G	uc001nyk.1	+	2	275	c.128A>G	c.(127-129)AAC>AGC	p.N43S	STIP1_uc001nyj.2_Missense_Mutation_p.N43S|STIP1_uc010rnb.1_Missense_Mutation_p.N43S	NM_006819	NP_006810	P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	43	TPR 2.				axon guidance|response to stress	Golgi apparatus|nucleus				ovary(2)|liver(1)	3						CTGTACAGCAACCGTTCTGCT	0.527												
NRXN2	9379	broad.mit.edu	37	11	64418979	64418979	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:64418979C>T	uc001oar.2	-	15	3105	c.2666G>A	c.(2665-2667)GGC>GAC	p.G889D	NRXN2_uc001oas.2_Missense_Mutation_p.G849D|NRXN2_uc001oaq.2_Missense_Mutation_p.G556D	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	271	Extracellular (Potential).|Laminin G-like.				cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						GTAGGGCTGGCCATTGAACAC	0.577											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ATG2A	23130	broad.mit.edu	37	11	64669492	64669492	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:64669492C>T	uc001obx.2	-	29	4176	c.4061G>A	c.(4060-4062)GGA>GAA	p.G1354E	ATG2A_uc001obw.2_Missense_Mutation_p.G119E	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1354							protein binding			ovary(1)|central_nervous_system(1)	2						CAGGGTGTCTCCATCGCCCTC	0.632												
RIN1	9610	broad.mit.edu	37	11	66102359	66102359	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:66102359C>T	uc001ohn.1	-	6	1038	c.911G>A	c.(910-912)AGC>AAC	p.S304N	RIN1_uc010roy.1_5'UTR|RIN1_uc009yrd.1_5'UTR|RIN1_uc010roz.1_Missense_Mutation_p.S199N|RIN1_uc010rpa.1_Missense_Mutation_p.S199N	NM_004292	NP_004283	Q13671	RIN1_HUMAN	ras inhibitor RIN1	304	Ras and 14-3-3 protein binding region.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			lung(2)|breast(1)	3						AGGCGGAAGGCTAGGGCCACT	0.711												
SLC29A2	3177	broad.mit.edu	37	11	66131829	66131829	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:66131829T>C	uc001oht.2	-	11	1355	c.1126A>G	c.(1126-1128)ATG>GTG	p.M376V	SLC29A2_uc001ohs.2_Missense_Mutation_p.M256V|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Missense_Mutation_p.M256V|SLC29A2_uc001ohu.2_Missense_Mutation_p.M376V|SLC29A2_uc001ohv.2_Missense_Mutation_p.H331R	NM_001532	NP_001523	Q14542	S29A2_HUMAN	solute carrier family 29 (nucleoside	376	Helical; (Potential).				cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			ovary(1)	1						TGGCACAGCATGAAGAGGGGC	0.602												
PELI3	246330	broad.mit.edu	37	11	66235678	66235678	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:66235678G>A	uc001oic.3	+	2	243	c.79G>A	c.(79-81)GTT>ATT	p.V27I	PELI3_uc001oib.2_Missense_Mutation_p.V27I|PELI3_uc001oid.3_Missense_Mutation_p.V27I|PELI3_uc001oie.3_5'UTR	NM_145065	NP_659502	Q8N2H9	PELI3_HUMAN	pellino 3 alpha isoform 1	27						cytosol	protein binding			ovary(1)	1						GGGCTCTTGCGTTCTCTCCTC	0.607												
BBS1	582	broad.mit.edu	37	11	66290971	66290971	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:66290971C>A	uc001oij.1	+	10	887	c.875C>A	c.(874-876)CCT>CAT	p.P292H	BBS1_uc001oii.1_Missense_Mutation_p.P329H|BBS1_uc010rpf.1_RNA|BBS1_uc010rpg.1_Missense_Mutation_p.P195H|BBS1_uc001oik.1_Missense_Mutation_p.P216H|BBS1_uc001oil.1_Intron|ZDHHC24_uc001oim.1_Intron|ZDHHC24_uc009yrg.1_Intron|BBS1_uc010rph.1_5'Flank	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	292					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			ovary(1)	1						AGCGCCCAGCCTGTGGGACTT	0.577									Bardet-Biedl_syndrome			
BBS1	582	broad.mit.edu	37	11	66297418	66297418	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:66297418G>A	uc001oij.1	+	14	1480	c.1468G>A	c.(1468-1470)GCC>ACC	p.A490T	BBS1_uc001oii.1_Missense_Mutation_p.A527T|BBS1_uc010rpg.1_Missense_Mutation_p.A393T|BBS1_uc001oik.1_Missense_Mutation_p.A414T|BBS1_uc001oil.1_Missense_Mutation_p.A361T|ZDHHC24_uc001oim.1_Intron|ZDHHC24_uc009yrg.1_Intron|BBS1_uc010rph.1_Missense_Mutation_p.A158T	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	490					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			ovary(1)	1						CAAGCTGCACGCCGTGGTGAG	0.667									Bardet-Biedl_syndrome			
RBM14	10432	broad.mit.edu	37	11	66392333	66392333	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:66392333A>G	uc001oit.2	+	2	1125	c.986A>G	c.(985-987)AAC>AGC	p.N329S	RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	329	TRBP-interacting domain.|Ala-rich.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						TCTTCGCTCAACTCCTATGGG	0.612												
RBM4B	83759	broad.mit.edu	37	11	66436179	66436179	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:66436179G>A	uc001oja.2	-	2	1665	c.996C>T	c.(994-996)TCC>TCT	p.S332S	RBM4B_uc001ojb.2_Silent_p.S332S	NM_031492	NP_113680	Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	332	Interaction with TNPO3 (By similarity).				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding				0						GTGTAGCTGCGGAAGCCTGAG	0.557												
C11orf80	79703	broad.mit.edu	37	11	66605896	66605896	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:66605896G>A	uc001ojf.2	+	15	1734	c.1727G>A	c.(1726-1728)AGC>AAC	p.S576N	C11orf80_uc001ojg.2_Missense_Mutation_p.S343N|C11orf80_uc001ojh.2_Missense_Mutation_p.S344N|C11orf80_uc001oji.2_Missense_Mutation_p.S344N|C11orf80_uc010rpl.1_Missense_Mutation_p.S210N|C11orf80_uc001ojj.2_Missense_Mutation_p.S174N	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	hypothetical protein LOC79703	421											0						CCTGATAACAGCAGCCTGGAG	0.433												
SYT12	91683	broad.mit.edu	37	11	66807288	66807288	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:66807288C>T	uc009yrl.2	+	4	465	c.235C>T	c.(235-237)CCT>TCT	p.P79S	SYT12_uc001oju.2_Missense_Mutation_p.P79S	NM_177963	NP_808878	Q8IV01	SYT12_HUMAN	synaptotagmin XII	79	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane				ovary(1)	1						CTAGAGAGTGCCTGCCTGGAA	0.597												
RPS6KB2	6199	broad.mit.edu	37	11	67200454	67200454	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:67200454C>T	uc001old.2	+	8	730	c.648C>T	c.(646-648)TGC>TGT	p.C216C	RPS6KB2_uc001olf.2_Silent_p.C16C|RPS6KB2_uc001olg.2_Silent_p.C216C|RPS6KB2_uc009yrq.2_Silent_p.C16C|RPS6KB2_uc001ole.2_RNA|RPS6KB2_uc001olh.2_RNA|RPS6KB2_uc009yrr.2_Silent_p.C47C	NM_003952	NP_003943	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide	216	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|stomach(1)|lung(1)|salivary_gland(1)	7			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TTGGACTCTGCAAGGAGTCTA	0.622												
CORO1B	57175	broad.mit.edu	37	11	67208620	67208620	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:67208620C>T	uc001olj.1	-	5	768	c.732G>A	c.(730-732)GAG>GAA	p.E244E	CORO1B_uc009yrs.1_RNA|CORO1B_uc001olk.1_Silent_p.E244E|CORO1B_uc009yrt.1_RNA|CORO1B_uc009yru.1_RNA|CORO1B_uc001oll.1_Silent_p.E244E|CORO1B_uc010rps.1_Silent_p.E244E	NM_020441	NP_065174	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	244	WD 4.				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			large_intestine(1)|ovary(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCAGCTGCCGCTCGCTCATTC	0.672												
LRP5	4041	broad.mit.edu	37	11	68192599	68192599	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:68192599G>A	uc001ont.2	+	15	3341	c.3266G>A	c.(3265-3267)CGG>CAG	p.R1089Q	LRP5_uc009ysg.2_Missense_Mutation_p.R499Q	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	1089	LDL-receptor class B 18.|Beta-propeller 4.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						ATGCAGGACCGGGCAGCCAAG	0.672												
SHANK2	22941	broad.mit.edu	37	11	70332838	70332838	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:70332838G>A	uc001oqc.2	-	21	3638	c.3560C>T	c.(3559-3561)GCA>GTA	p.A1187V	SHANK2_uc010rqn.1_Missense_Mutation_p.A599V|SHANK2_uc001opz.2_Missense_Mutation_p.A592V|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	808					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGAGGGCACTGCTGGGCTGCT	0.687												
KRTAP5-7	440050	broad.mit.edu	37	11	71238792	71238792	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:71238792G>A	uc001oqq.1	+	1	480	c.446G>A	c.(445-447)TGC>TAC	p.C149Y		NM_001012503	NP_001012521	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	149	7 X 4 AA repeats of C-C-X-P.					keratin filament					0						tgcaatccctgctgctCCCAG	0.264												
FOLR3	2352	broad.mit.edu	37	11	71850033	71850033	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:71850033C>T	uc001ory.1	+	3	373	c.323C>T	c.(322-324)GCT>GTT	p.A108V	FOLR3_uc001orx.1_Silent_p.C65C			P41439	FOLR3_HUMAN	SubName: Full=FOLR3 protein; Flags: Fragment;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity				0					Folic Acid(DB00158)	AGAATGCCTGCTGCACGGCCA	0.587												
INPPL1	3636	broad.mit.edu	37	11	71948521	71948521	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:71948521G>A	uc001osf.2	+	26	3380	c.3233G>A	c.(3232-3234)CGG>CAG	p.R1078Q	INPPL1_uc001osg.2_Missense_Mutation_p.R836Q	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1078	Pro-rich.				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						CCAGTGGTCCGGGGCCGTGGT	0.692												
KCTD21	283219	broad.mit.edu	37	11	77885584	77885584	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:77885584G>A	uc001ozb.2	-	2	92	c.17C>T	c.(16-18)ACG>ATG	p.T6M		NM_001029859	NP_001025030	Q4G0X4	KCD21_HUMAN	potassium channel tetramerisation domain	6	BTB.					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)			GACGTTCAGCGTGATGGGGTC	0.552												
ANKRD42	338699	broad.mit.edu	37	11	82936061	82936061	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:82936061G>A	uc001ozz.1	+	6	1089	c.667G>A	c.(667-669)GCT>ACT	p.A223T	ANKRD42_uc010rsv.1_Missense_Mutation_p.A251T|ANKRD42_uc001paa.2_Missense_Mutation_p.A251T|ANKRD42_uc001pab.1_Missense_Mutation_p.A250T	NM_182603	NP_872409	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	223	ANK 6.									skin(1)	1						TATCCAGGGGGCTGAGTATGA	0.313												
FAT3	120114	broad.mit.edu	37	11	92088255	92088255	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:92088255C>T	uc001pdj.3	+	1	2994	c.2977C>T	c.(2977-2979)CGC>TGC	p.R993C		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	993	Cadherin 9.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGTGCCATCCGCTTGAGCAA	0.463										TCGA Ovarian(4;0.039)		
FAT3	120114	broad.mit.edu	37	11	92543082	92543082	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:92543082C>T	uc001pdj.3	+	12	9338	c.9321C>T	c.(9319-9321)GAC>GAT	p.D3107D		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3107	Cadherin 28.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGGCCACTGACGGGGGTGGCA	0.522										TCGA Ovarian(4;0.039)		
FAT3	120114	broad.mit.edu	37	11	92600334	92600334	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:92600334C>T	uc001pdj.3	+	21	12103	c.12086C>T	c.(12085-12087)CCG>CTG	p.P4029L	FAT3_uc001pdi.3_Missense_Mutation_p.P469L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4029	EGF-like 2.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAGCGCAGCCCGTGCCAGCAC	0.672										TCGA Ovarian(4;0.039)		
MAML2	84441	broad.mit.edu	37	11	95712232	95712232	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:95712232G>A	uc001pfw.1	-	5	4636	c.3351C>T	c.(3349-3351)AAC>AAT	p.N1117N		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	1117					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CAGGGCCCATGTTATCATTTT	0.423			T	MECT1|CRTC3	salivary gland mucoepidermoid							
MAML2	84441	broad.mit.edu	37	11	95825802	95825802	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:95825802G>A	uc001pfw.1	-	2	2678	c.1393C>T	c.(1393-1395)CCC>TCC	p.P465S		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	465					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GCAGAAGAGGGCAAGGCTGAC	0.493			T	MECT1|CRTC3	salivary gland mucoepidermoid							
CNTN5	53942	broad.mit.edu	37	11	100126491	100126491	+	Splice_Site	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:100126491G>T	uc001pga.2	+	17	2345	c.2006_splice	c.e17-1	p.G669_splice	CNTN5_uc001pfz.2_Splice_Site_p.G669_splice|CNTN5_uc001pgb.2_Splice_Site_p.G595_splice|CNTN5_uc010ruk.1_Splice_Site	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long						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)		TTGACCTATAGGACCCCCAGG	0.448												
KIAA1377	57562	broad.mit.edu	37	11	101833873	101833873	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:101833873G>T	uc001pgm.2	+	6	2377	c.2107G>T	c.(2107-2109)GGA>TGA	p.G703*	KIAA1377_uc001pgn.2_Nonsense_Mutation_p.G659*|KIAA1377_uc010run.1_Nonsense_Mutation_p.G504*|KIAA1377_uc009yxa.1_Nonsense_Mutation_p.G504*	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	703							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GACTTTAGGAGGATCTGGAGC	0.378												
MMP8	4317	broad.mit.edu	37	11	102585436	102585436	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:102585436G>A	uc001phe.2	-	8	1140	c.1041C>T	c.(1039-1041)AAC>AAT	p.N347N	MMP8_uc010rut.1_Intron|MMP8_uc010ruu.1_Silent_p.N324N	NM_002424	NP_002415	P22894	MMP8_HUMAN	matrix metalloproteinase 8 preproprotein	347	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		CCCAGTATTGGTTGCCTGTCA	0.328												
KIAA1826	84437	broad.mit.edu	37	11	105881195	105881195	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:105881195C>T	uc001piy.2	-	2	623	c.450G>A	c.(448-450)CCG>CCA	p.P150P	KIAA1826_uc001piz.2_Silent_p.P150P	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN	hypothetical protein LOC84437	150						nucleus				breast(1)	1		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309)		CAGGACTCTGCGGATCCCTTT	0.418												
LAYN	143903	broad.mit.edu	37	11	111430909	111430909	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:111430909A>G	uc001plr.1	+	8	1211	c.875A>G	c.(874-876)TAC>TGC	p.Y292C	LAYN_uc001plp.1_Missense_Mutation_p.Y284C|LAYN_uc001plq.1_3'UTR|LAYN_uc001pls.1_3'UTR|LAYN_uc010rwg.1_Missense_Mutation_p.Y139C|LAYN_uc010rwh.1_Missense_Mutation_p.Y140C	NM_178834	NP_849156	Q6UX15	LAYN_HUMAN	layilin	292	Cytoplasmic (Potential).					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding				0		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		CTAGAGGTCTACAATGTCATA	0.512												
BACE1	23621	broad.mit.edu	37	11	117186302	117186302	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:117186302C>T	uc001pqz.2	-	1	671	c.210G>A	c.(208-210)AAG>AAA	p.K70K	BACE1_uc001pqw.2_Silent_p.K70K|BACE1_uc001pqx.2_Silent_p.K70K|BACE1_uc001pqy.2_Silent_p.K70K|BACE1_uc001pra.1_Silent_p.K70K	NM_012104	NP_036236	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1 isoform A	70	Extracellular (Potential).				beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			ovary(1)	1	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		CCTGCCCCGACTTGCCCCTCA	0.701												
NLRX1	79671	broad.mit.edu	37	11	119044614	119044614	+	Missense_Mutation	SNP	G	G	A	rs146004436	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:119044614G>A	uc001pvu.2	+	5	871	c.656G>A	c.(655-657)CGC>CAC	p.R219H	NLRX1_uc010rzc.1_Missense_Mutation_p.R41H|NLRX1_uc001pvv.2_Missense_Mutation_p.R219H|NLRX1_uc001pvw.2_Missense_Mutation_p.R219H|NLRX1_uc001pvx.2_Missense_Mutation_p.R219H	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	219	Required for interaction with MAVS.|NACHT.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			ovary(1)|skin(1)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GTGGCCCAGCGCTACACGCCC	0.647												
CBL	867	broad.mit.edu	37	11	119169107	119169107	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:119169107C>A	uc001pwe.2	+	15	2429	c.2291C>A	c.(2290-2292)CCC>CAC	p.P764H		NM_005188	NP_005179	P22681	CBL_HUMAN	Cas-Br-M (murine) ecotropic retroviral	764	Interaction with CD2AP.|Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		AACACTGGTCCCGAGGAGTCA	0.502									CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome			
OR6X1	390260	broad.mit.edu	37	11	123624522	123624522	+	Silent	SNP	A	A	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:123624522A>C	uc010rzy.1	-	1	705	c.705T>G	c.(703-705)ACT>ACG	p.T235T		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X,	235	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGGTAGAGAAAGTCTTTTGGT	0.468												
FEZ1	9638	broad.mit.edu	37	11	125330401	125330401	+	Silent	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:125330401G>T	uc001qbx.2	-	5	812	c.660C>A	c.(658-660)TCC>TCA	p.S220S	FEZ1_uc010sbc.1_Silent_p.S191S	NM_005103	NP_005094	Q99689	FEZ1_HUMAN	zygin 1 isoform 1	220					axon guidance|cell adhesion|transport	microtubule|plasma membrane				central_nervous_system(3)|ovary(1)	4	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		CACCTTCATAGGACCAGTTGT	0.582												
CDON	50937	broad.mit.edu	37	11	125880287	125880287	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:125880287C>T	uc009zbw.2	-	8	1629	c.1501G>A	c.(1501-1503)GAA>AAA	p.E501K	CDON_uc001qdc.3_Missense_Mutation_p.E501K|CDON_uc001qdd.3_RNA	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN	surface glycoprotein, Ig superfamily member	501	Ig-like C2-type 5.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|skin(2)|breast(1)	6	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TTTGCAGCTTCGCAGATGTAT	0.443												
PRDM10	56980	broad.mit.edu	37	11	129785641	129785641	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:129785641T>C	uc001qfm.2	-	17	2684	c.2452A>G	c.(2452-2454)ATG>GTG	p.M818V	PRDM10_uc001qfj.2_Missense_Mutation_p.M732V|PRDM10_uc001qfk.2_Missense_Mutation_p.M728V|PRDM10_uc001qfl.2_Missense_Mutation_p.M732V|PRDM10_uc010sbx.1_Missense_Mutation_p.M728V|PRDM10_uc001qfn.2_Missense_Mutation_p.M814V|PRDM10_uc009zcs.1_Missense_Mutation_p.M1V	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	818					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1	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)		GTGCTCAGCATGGGGTCTGGC	0.627												
OPCML	4978	broad.mit.edu	37	11	132812832	132812832	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:132812832G>T	uc001qgs.2	-	1	206	c.156C>A	c.(154-156)AGC>AGA	p.S52R	OPCML_uc001qgu.2_Missense_Mutation_p.S45R|OPCML_uc010sck.1_Missense_Mutation_p.S52R|OPCML_uc001qgt.2_Missense_Mutation_p.S52R|OPCML_uc010scl.1_Missense_Mutation_p.S11R	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	52	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TGAGGGTGGCGCTCTCCCCCT	0.677												
IGSF9B	22997	broad.mit.edu	37	11	133800877	133800877	+	Splice_Site	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:133800877A>G	uc001qgx.3	-	11	1750	c.1519_splice	c.e11+1	p.G507_splice	IGSF9B_uc001qgy.1_Splice_Site_p.G349_splice	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B							integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCGGCCACGTACCGATGACGG	0.692												
NCAPD3	23310	broad.mit.edu	37	11	134022868	134022868	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:134022868G>A	uc001qhd.1	-	35	5074	c.4468C>T	c.(4468-4470)CGA>TGA	p.R1490*	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_Silent_p.S440S	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1490					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GGGGTCTTTCGGAGGGACCTC	0.597												
SLC6A12	6539	broad.mit.edu	37	12	313794	313794	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:313794C>T	uc001qhz.2	-	5	828	c.285G>A	c.(283-285)GCG>GCA	p.A95A	SLC6A12_uc001qia.2_Silent_p.A95A|SLC6A12_uc001qib.2_Silent_p.A95A|SLC6A12_uc009zdh.1_Silent_p.A95A|SLC6A12_uc009zdi.1_RNA	NM_003044	NP_003035	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter	95					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			ATTGGCCCAACGCCACCTCCA	0.587												
CACNA1C	775	broad.mit.edu	37	12	2795379	2795379	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:2795379C>T	uc009zdu.1	+	48	6290	c.5977C>T	c.(5977-5979)CGA>TGA	p.R1993*	CACNA1C_uc009zdv.1_Nonsense_Mutation_p.R1907*|CACNA1C_uc001qkb.2_Nonsense_Mutation_p.R1910*|CACNA1C_uc001qkc.2_Nonsense_Mutation_p.R1929*|CACNA1C_uc001qke.2_Nonsense_Mutation_p.R1899*|CACNA1C_uc001qkf.2_Nonsense_Mutation_p.R1918*|CACNA1C_uc001qjz.2_Nonsense_Mutation_p.R1910*|CACNA1C_uc001qkd.2_Nonsense_Mutation_p.R1929*|CACNA1C_uc001qkg.2_Nonsense_Mutation_p.R1916*|CACNA1C_uc009zdw.1_Nonsense_Mutation_p.R1951*|CACNA1C_uc001qkh.2_Nonsense_Mutation_p.R1918*|CACNA1C_uc001qkl.2_Nonsense_Mutation_p.R1958*|CACNA1C_uc001qkn.2_Nonsense_Mutation_p.R1910*|CACNA1C_uc001qko.2_Nonsense_Mutation_p.R1930*|CACNA1C_uc001qkp.2_Nonsense_Mutation_p.R1910*|CACNA1C_uc001qkr.2_Nonsense_Mutation_p.R1927*|CACNA1C_uc001qku.2_Nonsense_Mutation_p.R1945*|CACNA1C_uc001qkq.2_Nonsense_Mutation_p.R1938*|CACNA1C_uc001qks.2_Nonsense_Mutation_p.R1910*|CACNA1C_uc001qkt.2_Nonsense_Mutation_p.R1929*|CACNA1C_uc001qki.1_Nonsense_Mutation_p.R1717*|CACNA1C_uc001qkj.1_Nonsense_Mutation_p.R1681*|CACNA1C_uc001qkk.1_Nonsense_Mutation_p.R1646*|CACNA1C_uc001qkm.1_Nonsense_Mutation_p.R1706*|CACNA1C_uc010sea.1_Nonsense_Mutation_p.R601*|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Nonsense_Mutation_p.R228*	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1993	Cytoplasmic (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)	ACAGAAGGACCGAGGGGGAGA	0.582												
VWF	7450	broad.mit.edu	37	12	6122709	6122709	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:6122709C>T	uc001qnn.1	-	32	5808	c.5558G>A	c.(5557-5559)CGA>CAA	p.R1853Q	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1853	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	GTCTTCGATTCGCTGGAGCTT	0.512												
ACRBP	84519	broad.mit.edu	37	12	6753627	6753627	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:6753627G>A	uc001qpu.1	-	5	668	c.620C>T	c.(619-621)CCG>CTG	p.P207L	ACRBP_uc010sfg.1_Missense_Mutation_p.P174L	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	proacrosin binding protein sp32 precursor	207						acrosomal vesicle|extracellular region				central_nervous_system(1)	1						TTCTTGTGTCGGCTCCTGCCT	0.333												
CD163L1	283316	broad.mit.edu	37	12	7522128	7522128	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:7522128G>A	uc001qsy.2	-	15	3890	c.3864C>T	c.(3862-3864)GGC>GGT	p.G1288G	CD163L1_uc010sge.1_Silent_p.G1298G	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	1288	SRCR 12.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						CAGAGCCACAGCCCAGCTGCT	0.602												
MGST1	4257	broad.mit.edu	37	12	16510630	16510630	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:16510630G>A	uc001rdf.2	+	3	283	c.218G>A	c.(217-219)CGC>CAC	p.R73H	MGST1_uc001rdg.2_Missense_Mutation_p.R73H|MGST1_uc009zih.1_RNA|MGST1_uc001rdh.2_Missense_Mutation_p.R73H|MGST1_uc001rdi.2_Missense_Mutation_p.R73H	NM_145792	NP_665735	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	73	Helical; (By similarity).	Glutathione (By similarity).			protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity				0		Hepatocellular(102;0.121)			Glutathione(DB00143)	GAACGTGTACGCAGGTAAACC	0.398												
ABCC9	10060	broad.mit.edu	37	12	22005061	22005061	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:22005061A>G	uc001rfi.1	-	22	2759	c.2739T>C	c.(2737-2739)CTT>CTC	p.L913L	ABCC9_uc001rfh.2_Silent_p.L913L|ABCC9_uc001rfj.1_Silent_p.L877L	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	913	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)	GCCGATTCATAAGTGTTTTCC	0.358												
KRAS	3845	broad.mit.edu	37	12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	rs112445441		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	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)		
C12orf72	254013	broad.mit.edu	37	12	31820594	31820594	+	Silent	SNP	T	T	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:31820594T>A	uc009zjr.2	+	4	668	c.459T>A	c.(457-459)GCT>GCA	p.A153A	C12orf72_uc001rkl.2_Silent_p.A153A|C12orf72_uc001rkm.2_Silent_p.A153A	NM_001135864	NP_001129336	Q8IXQ9	MET20_HUMAN	hypothetical protein LOC254013	153						cytoplasm	protein methyltransferase activity				0						CAGGAATGGCTATTACACTAA	0.299												
LRRK2	120892	broad.mit.edu	37	12	40697791	40697791	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:40697791T>C	uc001rmg.3	+	27	3753	c.3632T>C	c.(3631-3633)CTA>CCA	p.L1211P	LRRK2_uc001rmh.1_Missense_Mutation_p.L833P|LRRK2_uc009zjw.2_Missense_Mutation_p.L49P|LRRK2_uc001rmi.2_Missense_Mutation_p.L44P	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1211	LRR 9.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATTCAGTACCTACCAGGTCCC	0.358												
PRICKLE1	144165	broad.mit.edu	37	12	42860065	42860065	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:42860065G>A	uc010skv.1	-	6	993	c.706C>T	c.(706-708)CGC>TGC	p.R236C	PRICKLE1_uc001rnl.2_Missense_Mutation_p.R236C|PRICKLE1_uc010skw.1_Missense_Mutation_p.R236C|PRICKLE1_uc001rnm.2_Missense_Mutation_p.R236C	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	236	LIM zinc-binding 2.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CAGAAGGGGCGGCCGTCCTTC	0.547												
PUS7L	83448	broad.mit.edu	37	12	44148382	44148382	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:44148382C>T	uc001rnq.3	-	2	1156	c.667G>A	c.(667-669)GAT>AAT	p.D223N	PUS7L_uc001rnr.3_Missense_Mutation_p.D223N|PUS7L_uc001rns.3_Missense_Mutation_p.D223N|PUS7L_uc009zkb.2_Intron	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S.	223					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			pancreas(1)	1	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TTCTTTGCATCCAAATATTTA	0.303												
SLC38A2	54407	broad.mit.edu	37	12	46760899	46760899	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:46760899C>A	uc001rpg.2	-	6	881	c.441G>T	c.(439-441)AAG>AAT	p.K147N	SLC38A2_uc010sli.1_5'Flank|SLC38A2_uc001rph.2_Missense_Mutation_p.K47N	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	147	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			urinary_tract(1)|skin(1)	2	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		ATGCTGCAAGCTTTCCAACTA	0.348												
LALBA	3906	broad.mit.edu	37	12	48962351	48962351	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:48962351T>C	uc001rrt.2	-	3	343	c.317A>G	c.(316-318)GAT>GGT	p.D106G		NM_002289	NP_002280	P00709	LALBA_HUMAN	lactalbumin, alpha- precursor	106					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity				0						CATTATGTCATCAGTAATGTC	0.438												
CCNT1	904	broad.mit.edu	37	12	49110331	49110331	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:49110331T>C	uc001rse.1	-	1	451	c.128A>G	c.(127-129)AAT>AGT	p.N43S	CCNT1_uc009zkz.1_5'UTR	NM_001240	NP_001231	O60563	CCNT1_HUMAN	cyclin T1	43					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			ovary(3)|lung(1)|breast(1)|skin(1)	6						CTGAAGCAGATTGGCCGCCTG	0.557											OREG0021767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MLL2	8085	broad.mit.edu	37	12	49446436	49446436	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:49446436A>G	uc001rta.3	-	9	1169	c.1169T>C	c.(1168-1170)GTT>GCT	p.V390A		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	390	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						TTGGCATGCAACGTACAGAGC	0.597			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
DHH	50846	broad.mit.edu	37	12	49488122	49488122	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:49488122G>A	uc001rtf.2	-	1	481	c.174C>T	c.(172-174)GGC>GGT	p.G58G		NM_021044	NP_066382	O43323	DHH_HUMAN	desert hedgehog preproprotein	58					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			lung(1)|breast(1)	2						GCCCACTGGCGCCCAGGGTCC	0.612												
DIP2B	57609	broad.mit.edu	37	12	51086785	51086785	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:51086785G>A	uc001rwv.2	+	14	1864	c.1708G>A	c.(1708-1710)GGC>AGC	p.G570S	DIP2B_uc009zlt.2_5'UTR	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	570						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						GCTGTGGCACGGCATGTTTGC	0.388												
KRT7	3855	broad.mit.edu	37	12	52635388	52635388	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:52635388C>T	uc001saa.1	+	5	953	c.826C>T	c.(826-828)CGG>TGG	p.R276W	KRT7_uc009zmf.1_Missense_Mutation_p.R276W	NM_005556	NP_005547	P08729	K2C7_HUMAN	keratin 7	276	Rod.|Coil 2.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.105)		CAAATGCAGCCGGGCTGAGGC	0.597												
KRT82	3888	broad.mit.edu	37	12	52794311	52794311	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:52794311C>T	uc001sai.1	-	4	892	c.777G>A	c.(775-777)GAG>GAA	p.E259E		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	keratin 82	259	Coil 1B.|Rod.					keratin filament	protein binding|structural constituent of epidermis			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.193)		CTGTGGGTACCTCCTCATACA	0.592												
KRT6B	3854	broad.mit.edu	37	12	52841159	52841159	+	Missense_Mutation	SNP	C	C	A	rs150021015	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:52841159C>A	uc001sak.2	-	9	1558	c.1510G>T	c.(1510-1512)GGC>TGC	p.G504C		NM_005555	NP_005546	P04259	K2C6B_HUMAN	keratin 6B	504	Tail.				ectoderm development	keratin filament	structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.083)		AAGCCACTGCCGACACCGCTG	0.612												
KRT74	121391	broad.mit.edu	37	12	52967139	52967139	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:52967139C>T	uc001sap.1	-	1	471	c.423G>A	c.(421-423)CGG>CGA	p.R141R		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	keratin 6 irs4	141	Coil 1A.|Rod.					keratin filament	structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.191)		TGATCTGTTCCCGCTCCTGGG	0.597												
ESPL1	9700	broad.mit.edu	37	12	53680216	53680216	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:53680216G>A	uc001sck.2	+	18	3787	c.3696G>A	c.(3694-3696)CTG>CTA	p.L1232L	ESPL1_uc001scj.2_Silent_p.L907L|ESPL1_uc010soe.1_Intron	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1232					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						TGTTGGCACTGGAGGGCCTGA	0.547												
PFDN5	5204	broad.mit.edu	37	12	53691682	53691682	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:53691682G>A	uc001scl.2	+	4	373	c.256G>A	c.(256-258)GTG>ATG	p.V86M	PFDN5_uc001scm.2_Missense_Mutation_p.V41M|PFDN5_uc001scn.2_RNA|PFDN5_uc001sco.2_RNA|C12orf10_uc010sof.1_5'Flank|C12orf10_uc001scp.3_5'Flank|C12orf10_uc009zmx.2_5'Flank|C12orf10_uc001scq.3_5'Flank	NM_002624	NP_002615	Q99471	PFD5_HUMAN	prefoldin subunit 5 isoform alpha	86					'de novo' posttranslational protein folding|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent	nucleus|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)	1						GCTCATCGATGTGGGAACTGG	0.507												
MAP3K12	7786	broad.mit.edu	37	12	53876462	53876462	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:53876462C>A	uc001sdm.1	-	12	2124	c.2026G>T	c.(2026-2028)GGG>TGG	p.G676W	MAP3K12_uc001sdn.1_Missense_Mutation_p.G709W	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	676					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)|skin(1)	5						CCCAGAAGCCCCACACCTTCA	0.662												
HOXC13	3229	broad.mit.edu	37	12	54338839	54338839	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:54338839C>T	uc001sei.2	+	2	907	c.792C>T	c.(790-792)CGC>CGT	p.R264R	HOXC13_uc010sop.1_RNA	NM_017410	NP_059106	P31276	HXC13_HUMAN	homeobox C13	264	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						GCAAGAAACGCGTGCCCTACA	0.617			T	NUP98	AML							
NFE2	4778	broad.mit.edu	37	12	54686821	54686821	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:54686821G>A	uc009znk.2	-	2	969	c.459C>T	c.(457-459)AGC>AGT	p.S153S	NFE2_uc001sfq.2_Silent_p.S153S|NFE2_uc001sfr.3_Silent_p.S153S|NFE2_uc009znl.2_Silent_p.S153S	NM_006163	NP_006154	Q16621	NFE2_HUMAN	nuclear factor, erythroid derived 2 isoform 1	153	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding				0						ATTCAGCATCGCTATAGTTGA	0.567												
NCKAP1L	3071	broad.mit.edu	37	12	54925553	54925553	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:54925553A>G	uc001sgc.3	+	25	2804	c.2725A>G	c.(2725-2727)ACC>GCC	p.T909A	NCKAP1L_uc010sox.1_Missense_Mutation_p.T451A|NCKAP1L_uc010soy.1_Missense_Mutation_p.T859A	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	909					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						AAAGCGCATGACCATCATTGG	0.498												
OR6C65	403282	broad.mit.edu	37	12	55794998	55794998	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:55794998C>T	uc010spl.1	+	1	686	c.686C>T	c.(685-687)GCC>GTC	p.A229V		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ATTCCCTCTGCCCAGCAAAGG	0.398												
OR6C2	341416	broad.mit.edu	37	12	55846033	55846033	+	Silent	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:55846033G>T	uc001sgz.1	+	1	36	c.36G>T	c.(34-36)CTG>CTT	p.L12L		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C,	12	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						CTTTTATCCTGCTGGGACTGA	0.398												
ERBB3	2065	broad.mit.edu	37	12	56477656	56477656	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:56477656G>A	uc001sjh.2	+	2	397	c.204G>A	c.(202-204)ACG>ACA	p.T68T	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Silent_p.T9T|ERBB3_uc001sjg.2_Silent_p.T68T	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	68	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TTGTGCTCACGGGACACAATG	0.547												
ZC3H10	84872	broad.mit.edu	37	12	56515173	56515173	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:56515173G>A	uc001sjp.1	+	3	1016	c.827G>A	c.(826-828)CGC>CAC	p.R276H		NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	276	Potential.						nucleic acid binding|zinc ion binding				0			OV - Ovarian serous cystadenocarcinoma(18;0.12)			GCTCAGTTCCGCAATCAGGCC	0.537												
BAZ2A	11176	broad.mit.edu	37	12	56993616	56993616	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:56993616C>T	uc001slq.1	-	26	5242	c.5048G>A	c.(5047-5049)CGG>CAG	p.R1683Q	BAZ2A_uc001slp.1_Missense_Mutation_p.R1681Q|BAZ2A_uc001slo.1_Missense_Mutation_p.R489Q|BAZ2A_uc009zov.1_Missense_Mutation_p.R649Q|BAZ2A_uc009zow.1_Missense_Mutation_p.R1651Q	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1683	PHD-type.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding				0						GTCACCCTTCCGGCAGACTAG	0.582												
ATP5B	506	broad.mit.edu	37	12	57033821	57033821	+	Silent	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:57033821G>T	uc001slr.2	-	8	1335	c.1230C>A	c.(1228-1230)CCC>CCA	p.P410P		NM_001686	NP_001677	P06576	ATPB_HUMAN	mitochondrial ATP synthase beta subunit	410					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)	1						CAACAATGTTGGGATCCATGA	0.502												
LRP1	4035	broad.mit.edu	37	12	57571281	57571281	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:57571281G>A	uc001snd.2	+	26	4734	c.4268G>A	c.(4267-4269)CGC>CAC	p.R1423H		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1423	LDL-receptor class B 10.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.R1423C(1)		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)	GGGGCTGGGCGCCGCACCGTG	0.667												
LRP1	4035	broad.mit.edu	37	12	57584720	57584720	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:57584720C>T	uc001snd.2	+	43	7630	c.7164C>T	c.(7162-7164)GCC>GCT	p.A2388A		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	2388	Extracellular (Potential).|LDL-receptor class B 23.				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)	ACCACCGTGCCGAGAAGCTCT	0.627												
FAM19A2	338811	broad.mit.edu	37	12	62147455	62147455	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:62147455G>A	uc001sqw.2	-	4	1845	c.332C>T	c.(331-333)CCG>CTG	p.P111L	FAM19A2_uc001sqv.2_RNA|FAM19A2_uc001sqx.2_Missense_Mutation_p.P111L|FAM19A2_uc001sqy.2_RNA	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine	111						cytoplasm				ovary(1)	1			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TTTCCGATCCGGAAGAACTTT	0.408												
C12orf56	115749	broad.mit.edu	37	12	64784109	64784109	+	Silent	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:64784109G>T	uc001ssa.3	-	1	237	c.237C>A	c.(235-237)GTC>GTA	p.V79V	uc001srx.2_Intron	NM_001099676	NP_001093146	Q8IXR9	CL056_HUMAN	hypothetical protein LOC115749	79											0			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		CAATGGCCACGACGTCCCGCA	0.677												
IRAK3	11213	broad.mit.edu	37	12	66605356	66605356	+	Silent	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:66605356T>C	uc001sth.2	+	5	669	c.567T>C	c.(565-567)TAT>TAC	p.Y189Y	IRAK3_uc010ssy.1_Silent_p.Y128Y	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	189	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8				GBM - Glioblastoma multiforme(28;0.0203)		ACCTAACATATGCTGTCAAAT	0.308												
MDM2	4193	broad.mit.edu	37	12	69229704	69229704	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:69229704C>T	uc001sui.2	+	9	1067	c.780C>T	c.(778-780)CTC>CTT	p.L260L	MDM2_uc009zri.2_Silent_p.L215L|MDM2_uc009zqx.2_Silent_p.L205L|MDM2_uc009zqw.2_Intron|MDM2_uc001suk.2_Intron|MDM2_uc009zqy.1_Silent_p.L249L|MDM2_uc001sun.3_Silent_p.L79L|MDM2_uc009zqz.2_Intron|MDM2_uc009zra.2_Silent_p.L84L|MDM2_uc001sum.1_Intron|MDM2_uc009zrd.2_5'UTR|MDM2_uc009zrc.2_Intron|MDM2_uc009zre.2_Intron|MDM2_uc009zrf.2_Intron|MDM2_uc001suo.2_Silent_p.L54L|MDM2_uc009zrg.2_Intron|MDM2_uc009zrh.2_Silent_p.L54L	NM_002392	NP_002383	Q00987	MDM2_HUMAN	mouse double minute 2 homolog isoform MDM2	254	ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP (By similarity).|Region II.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)|central_nervous_system(1)	3	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TTGAATCTCTCGACTCAGAAG	0.353			A		sarcoma|glioma|colorectal|other							
RAB3IP	117177	broad.mit.edu	37	12	70194001	70194001	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:70194001T>G	uc001svp.2	+	7	1396	c.949T>G	c.(949-951)TTG>GTG	p.L317V	RAB3IP_uc001svm.2_Missense_Mutation_p.L301V|RAB3IP_uc001svn.2_Missense_Mutation_p.L301V|RAB3IP_uc001svo.2_Intron|RAB3IP_uc001svq.2_Missense_Mutation_p.L317V|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_Intron|RAB3IP_uc001svt.2_Missense_Mutation_p.L95V	NM_175623	NP_783322	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein isoform alpha 2	317					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TGACTTATCCTTGTATAATGA	0.343												
LGR5	8549	broad.mit.edu	37	12	71966693	71966693	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:71966693C>T	uc001swl.2	+	13	1248	c.1200C>T	c.(1198-1200)CTC>CTT	p.L400L	LGR5_uc001swm.2_Silent_p.L376L|LGR5_uc001swn.1_RNA	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	400	LRR 15.|Extracellular (Potential).					integral to plasma membrane	protein-hormone receptor activity			lung(4)|skin(3)|ovary(1)|pancreas(1)	9						TGCTTAGCCTCCGATCGCTGT	0.418												
E2F7	144455	broad.mit.edu	37	12	77436967	77436967	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:77436967C>T	uc001sym.3	-	7	1237	c.1001G>A	c.(1000-1002)CGC>CAC	p.R334H		NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	334	Potential.			R->A: Loss of DNA-binding and inhibition of E2F1-dependent activation.	cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						GTCATAGAGGCGTCGTACCTT	0.463												
PPFIA2	8499	broad.mit.edu	37	12	81799628	81799628	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:81799628C>T	uc001szo.1	-	8	861	c.700G>A	c.(700-702)GAG>AAG	p.E234K	PPFIA2_uc010sue.1_Missense_Mutation_p.E134K|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	160										ovary(3)|lung(2)|pancreas(1)	6						GTGGATCCCTCGCTTGATGCC	0.398												
VEZT	55591	broad.mit.edu	37	12	95694231	95694231	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:95694231A>G	uc001tdz.2	+	12	2227	c.2122A>G	c.(2122-2124)ACC>GCC	p.T708A	VEZT_uc009ztb.1_RNA|VEZT_uc009ztc.1_Missense_Mutation_p.T73A|VEZT_uc001tdy.2_RNA	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane	708						acrosomal vesicle|adherens junction|integral to membrane|nucleus				ovary(1)	1						AAGTGGTCTGACCACTGCCCC	0.493												
CCDC38	120935	broad.mit.edu	37	12	96275317	96275317	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:96275317G>A	uc001tek.1	-	11	1170	c.936C>T	c.(934-936)TTC>TTT	p.F312F		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	312										skin(1)	1						CTTCTGAACCGAAACTTTCAG	0.343												
CCDC38	120935	broad.mit.edu	37	12	96300205	96300205	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:96300205T>C	uc001tek.1	-	5	563	c.329A>G	c.(328-330)CAT>CGT	p.H110R		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	110										skin(1)	1						AATAAATTCATGGACAGTCCT	0.343												
FICD	11153	broad.mit.edu	37	12	108913233	108913233	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:108913233C>T	uc001tmx.1	+	3	1504	c.1358C>T	c.(1357-1359)ACG>ATG	p.T453M		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Huntingtin interacting protein E	453					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity				0						TTCAAGGAGACGCTTCCTGTG	0.488												
CORO1C	23603	broad.mit.edu	37	12	109041214	109041214	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:109041214T>C	uc001tnj.2	-	11	1486	c.1390A>G	c.(1390-1392)AAG>GAG	p.K464E	CORO1C_uc009zva.2_Missense_Mutation_p.K517E|CORO1C_uc010sxf.1_Missense_Mutation_p.K427E	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C isoform 1	464	Potential.				actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			skin(3)	3						TGTTCTAACTTGGAAATACGC	0.403												
CUX2	23316	broad.mit.edu	37	12	111729244	111729244	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:111729244G>A	uc001tsa.1	+	5	477	c.324G>A	c.(322-324)GCG>GCA	p.A108A	CUX2_uc001tsb.1_Silent_p.A163A	NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	108						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						TGTTTGAGGCGGCACGCAGCC	0.652												
CUX2	23316	broad.mit.edu	37	12	111758485	111758485	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:111758485A>G	uc001tsa.1	+	17	2825	c.2672A>G	c.(2671-2673)TAC>TGC	p.Y891C		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	891	CUT 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						TACGAGCTGTACATGTACCGT	0.667												
PTPN11	5781	broad.mit.edu	37	12	112924286	112924286	+	Missense_Mutation	SNP	C	C	T	rs121918467		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:112924286C>T	uc001ttx.2	+	11	1612	c.1232C>T	c.(1231-1233)ACG>ATG	p.T411M	PTPN11_uc001ttw.1_Missense_Mutation_p.T411M	NM_002834	NP_002825	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type	415	Tyrosine-protein phosphatase.		T -> M (in NS1).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392						CAGGGGAATACGGAGAGAACG	0.527			Mis		JMML|AML|MDS		Noonan Syndrome		Noonan_syndrome			
NOS1	4842	broad.mit.edu	37	12	117655869	117655869	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:117655869C>T	uc001twm.1	-	28	4957	c.4271G>A	c.(4270-4272)AGC>AAC	p.S1424N		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1424					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)	GTCTTTTTTGCTCTCTTCAAT	0.507												
NOS1	4842	broad.mit.edu	37	12	117705943	117705943	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:117705943C>T	uc001twm.1	-	11	2532	c.1846G>A	c.(1846-1848)GCC>ACC	p.A616T		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	616					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)	ATCTTCTTGGCCACTTCCTGA	0.473												
CIT	11113	broad.mit.edu	37	12	120210640	120210640	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:120210640C>T	uc001txi.1	-	17	2069	c.2016G>A	c.(2014-2016)GAG>GAA	p.E672E	CIT_uc001txh.1_Silent_p.E206E|CIT_uc001txj.1_Silent_p.E672E	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	672	Potential.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCTTCTCCAGCTCCCTCTCGG	0.582												
RNF10	9921	broad.mit.edu	37	12	120990439	120990439	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:120990439C>T	uc001typ.3	+	3	975	c.492C>T	c.(490-492)AGC>AGT	p.S164S	RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Silent_p.S70S	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	ring finger protein 10	164	Interaction with MEOX2.				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACATGGTAGCTGGGGAAAGA	0.473												
ANAPC5	51433	broad.mit.edu	37	12	121765029	121765029	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:121765029A>G	uc001uag.2	-	11	1432	c.1310T>C	c.(1309-1311)ATG>ACG	p.M437T	ANAPC5_uc010szu.1_Missense_Mutation_p.M103T|ANAPC5_uc001uae.2_Missense_Mutation_p.M1T|ANAPC5_uc010szv.1_Missense_Mutation_p.M39T|ANAPC5_uc001uaf.2_RNA|ANAPC5_uc001uah.2_Missense_Mutation_p.M325T|ANAPC5_uc001uai.1_Missense_Mutation_p.M39T	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	anaphase-promoting complex subunit 5 isoform a	437					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			skin(3)|breast(2)|kidney(1)	6	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTGCAGTGCCATGGTGCTGGG	0.582												
KDM2B	84678	broad.mit.edu	37	12	121880054	121880054	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:121880054C>T	uc001uat.2	-	19	3294	c.3190G>A	c.(3190-3192)GTC>ATC	p.V1064I	KDM2B_uc001uaq.2_Missense_Mutation_p.V504I|KDM2B_uc010szy.1_Missense_Mutation_p.V504I|KDM2B_uc001uar.2_Missense_Mutation_p.V655I|KDM2B_uc001uas.2_Missense_Mutation_p.V995I|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.V312I|KDM2B_uc010szx.1_Missense_Mutation_p.V312I|KDM2B_uc001uap.2_RNA	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	1064	F-box.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						CTGTGCATGACGTGGGCTGCC	0.652												
VPS33A	65082	broad.mit.edu	37	12	122751031	122751031	+	Translation_Start_Site	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:122751031C>T	uc001ucd.2	-	1	38	c.-75G>A	c.(-77--73)ACGTG>ACATG		VPS33A_uc001ucc.2_RNA|VPS33A_uc001uce.2_Translation_Start_Site	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33A						lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			skin(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GACGCAGTCACGTGACCAAAC	0.652												
CCDC62	84660	broad.mit.edu	37	12	123290732	123290732	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:123290732G>T	uc001udc.2	+	10	1886	c.1741G>T	c.(1741-1743)GGT>TGT	p.G581C	CCDC62_uc010tah.1_RNA|CCDC62_uc001udf.2_Missense_Mutation_p.G581C|CCDC62_uc001ude.2_Missense_Mutation_p.G342C	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62 isoform b	581						cytoplasm|nucleus				ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5	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)		CCACTCTTTGGGTTCTTCAAA	0.358												
DNAH10	196385	broad.mit.edu	37	12	124305198	124305198	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:124305198G>A	uc001uft.3	+	23	3743	c.3718G>A	c.(3718-3720)GCT>ACT	p.A1240T		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1240	TPR 1.|Stem (By similarity).|Potential.				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACTGGCTAACGCTGAGAAACT	0.428												
BRI3BP	140707	broad.mit.edu	37	12	125497154	125497154	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:125497154C>T	uc001uha.1	+	2	431	c.288C>T	c.(286-288)ACC>ACT	p.T96T		NM_080626	NP_542193	Q8WY22	BRI3B_HUMAN	BRI3-binding protein	96						integral to membrane|mitochondrial outer membrane				ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		AAGTCTGGACCGAGCTCTTGG	0.483												
GPR133	283383	broad.mit.edu	37	12	131593289	131593289	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:131593289C>T	uc001uit.3	+	18	2467	c.1908C>T	c.(1906-1908)GCC>GCT	p.A636A	GPR133_uc010tbm.1_Silent_p.A668A|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Silent_p.A155A|GPR133_uc009zyp.2_RNA	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	636	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AAGTGATGGCCGTGCTCCTAC	0.577												
MMP17	4326	broad.mit.edu	37	12	132329951	132329951	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:132329951C>T	uc001ujc.1	+	8	1260	c.1161C>T	c.(1159-1161)GCC>GCT	p.A387A	MMP17_uc001ujd.1_Silent_p.A303A	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	matrix metalloproteinase 17 preproprotein	387	Hemopexin-like 2.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		GCGTGGACGCCGTGTACGAGC	0.692												
EP400	57634	broad.mit.edu	37	12	132547164	132547164	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:132547164C>T	uc001ujn.2	+	46	8287	c.8252C>T	c.(8251-8253)ACG>ATG	p.T2751M	EP400_uc001ujl.2_Missense_Mutation_p.T2750M|EP400_uc001ujm.2_Missense_Mutation_p.T2670M|EP400_uc001ujp.2_Translation_Start_Site	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2787	Interaction with ZNF42 (By similarity).				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)		cagACGACGACGACCTCTCAG	0.343												
GOLGA3	2802	broad.mit.edu	37	12	133381582	133381582	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:133381582C>A	uc001ukz.1	-	7	1876	c.1317G>T	c.(1315-1317)CAG>CAT	p.Q439H	GOLGA3_uc001ula.1_Missense_Mutation_p.Q439H|GOLGA3_uc001ulb.2_Missense_Mutation_p.Q439H	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	439	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CCAGCTGGGCCTGCAGCTCAG	0.557												
GOLGA3	2802	broad.mit.edu	37	12	133385003	133385003	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:133385003G>A	uc001ukz.1	-	5	1211	c.652C>T	c.(652-654)CCT>TCT	p.P218S	GOLGA3_uc001ula.1_Missense_Mutation_p.P218S|GOLGA3_uc001ulb.2_Missense_Mutation_p.P218S	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	218	Golgi-targeting domain.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GGCCCCCGAGGGACACTGGTG	0.517												
PSPC1	55269	broad.mit.edu	37	13	20279895	20279895	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:20279895A>G	uc001uml.2	-	8	1479	c.1293T>C	c.(1291-1293)ACT>ACC	p.T431T	PSPC1_uc001umj.1_Intron|PSPC1_uc001umk.1_Intron	NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	paraspeckle protein 1	431	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)	1		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		GGCCAGGTATAGTTGCTCTGT	0.483												
LATS2	26524	broad.mit.edu	37	13	21563291	21563291	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:21563291G>A	uc009zzs.2	-	4	993	c.628C>T	c.(628-630)CCG>TCG	p.P210S	LATS2_uc001unr.3_Missense_Mutation_p.P210S	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	210					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TCCACGTACGGCCGCGGCATC	0.701												
SACS	26278	broad.mit.edu	37	13	23911749	23911749	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:23911749G>A	uc001uon.2	-	10	6855	c.6266C>T	c.(6265-6267)TCG>TTG	p.S2089L	SACS_uc001uoo.2_Missense_Mutation_p.S1942L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2089					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGAACTCCCGAGAACTCATC	0.383												
CENPJ	55835	broad.mit.edu	37	13	25473679	25473679	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:25473679C>T	uc001upt.3	-	9	3122	c.2869G>A	c.(2869-2871)GCT>ACT	p.A957T	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA|CENPJ_uc001upu.2_5'UTR	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	957					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TCTATTCGAGCTAATTCTTTT	0.368												
MTMR6	9107	broad.mit.edu	37	13	25828013	25828013	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:25828013G>A	uc001uqf.3	-	11	1554	c.1235C>T	c.(1234-1236)CCA>CTA	p.P412L	MTMR6_uc001uqe.1_Missense_Mutation_p.P412L	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	412	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)|skin(2)	4		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		AAAGGCTTGTGGAAACTGTTC	0.438												
USP12	219333	broad.mit.edu	37	13	27664254	27664254	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:27664254G>A	uc001uqy.2	-	5	868	c.615C>T	c.(613-615)GAC>GAT	p.D205D		NM_182488	NP_872294	O75317	UBP12_HUMAN	ubiquitin thiolesterase 12	205					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)	1		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TTTGTTCCACGTCAACAGAAA	0.269												
SLC7A1	6541	broad.mit.edu	37	13	30097437	30097437	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:30097437C>T	uc001uso.2	-	7	1402	c.1015G>A	c.(1015-1017)GTG>ATG	p.V339M		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	339	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)	CCCACGGCCACTGCGTACTTG	0.622												
STARD13	90627	broad.mit.edu	37	13	33704275	33704275	+	Missense_Mutation	SNP	G	G	A	rs149234861	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:33704275G>A	uc001uuw.2	-	5	665	c.539C>T	c.(538-540)ACG>ATG	p.T180M	STARD13_uc001uuu.2_Missense_Mutation_p.T172M|STARD13_uc001uuv.2_Missense_Mutation_p.T62M|STARD13_uc001uux.2_Missense_Mutation_p.T145M|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.T165M	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	180					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		ACTGCTGGTCGTGTTCCTCAT	0.622												
POSTN	10631	broad.mit.edu	37	13	38148746	38148746	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:38148746C>T	uc001uwo.3	-	17	2170	c.2052G>A	c.(2050-2052)GTG>GTA	p.V684V	POSTN_uc010tet.1_Intron|POSTN_uc001uwp.3_Intron|POSTN_uc001uwr.2_Intron|POSTN_uc001uwq.2_Intron|POSTN_uc010teu.1_Intron|POSTN_uc010tev.1_Intron|POSTN_uc010tew.1_Intron	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	684					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)		TGCCTTCAATCACTTTAATTT	0.289												
FNDC3A	22862	broad.mit.edu	37	13	49705409	49705409	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:49705409C>T	uc001vcm.2	+	5	694	c.389C>T	c.(388-390)CCG>CTG	p.P130L	FNDC3A_uc001vcl.1_Missense_Mutation_p.P130L|FNDC3A_uc001vcn.2_Missense_Mutation_p.P130L|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Missense_Mutation_p.P74L|FNDC3A_uc001vcq.2_Missense_Mutation_p.P74L	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	130	Pro-rich.					Golgi membrane|integral to membrane				lung(2)	2		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ACTATGATGCCGCCTCCACCA	0.507												
UTP14C	9724	broad.mit.edu	37	13	52605100	52605100	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:52605100C>T	uc001vgb.2	+	2	2695	c.2160C>T	c.(2158-2160)GTC>GTT	p.V720V	UTP14C_uc001vgc.2_RNA	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	720					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				ovary(3)|large_intestine(1)|breast(1)	5		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		CTCCCAAGGTCGTCACCAAGC	0.502												
NEK5	341676	broad.mit.edu	37	13	52684545	52684545	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:52684545T>C	uc001vge.2	-	7	538	c.398A>G	c.(397-399)AAC>AGC	p.N133S	NEK5_uc001vgf.2_Missense_Mutation_p.N133S	NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	133	Protein kinase.						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)		AAGAAAAATGTTCTATAAATG	0.358												
THSD1	55901	broad.mit.edu	37	13	52952361	52952361	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:52952361C>T	uc001vgo.2	-	5	2289	c.1744G>A	c.(1744-1746)GCA>ACA	p.A582T	THSD1_uc001vgp.2_Missense_Mutation_p.A529T|THSD1_uc010tgz.1_Missense_Mutation_p.A203T|THSD1_uc010aea.2_Missense_Mutation_p.A43T	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	582	Cytoplasmic (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		AACTTGTTTGCTGCAGCTTCT	0.572												
THSD1	55901	broad.mit.edu	37	13	52952664	52952664	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:52952664C>T	uc001vgo.2	-	5	1986	c.1441G>A	c.(1441-1443)GGG>AGG	p.G481R	THSD1_uc001vgp.2_Missense_Mutation_p.G428R|THSD1_uc010tgz.1_Missense_Mutation_p.G102R|THSD1_uc010aea.2_5'UTR	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	481	Cytoplasmic (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CCGTCTCCCCCATCCGAGAAG	0.652												
PCDH8	5100	broad.mit.edu	37	13	53422421	53422421	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:53422421C>T	uc001vhi.2	-	1	354	c.151G>A	c.(151-153)GAG>AAG	p.E51K	PCDH8_uc001vhj.2_Missense_Mutation_p.E51K	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	51	Extracellular (Potential).|Cadherin 1.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TGCAGGTCCTCGGCCAGGGTC	0.607												
PCDH17	27253	broad.mit.edu	37	13	58207121	58207121	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:58207121G>A	uc001vhq.1	+	1	1333	c.441G>A	c.(439-441)CCG>CCA	p.P147P	PCDH17_uc010aec.1_Silent_p.P147P	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	147	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ACGCTGCTCCGGGCACCCGCT	0.617												
PCDH17	27253	broad.mit.edu	37	13	58208648	58208648	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:58208648G>A	uc001vhq.1	+	1	2860	c.1968G>A	c.(1966-1968)ACG>ACA	p.T656T	PCDH17_uc010aec.1_Silent_p.T656T	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	656	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGGACGTGACGCCCGTGGTGG	0.642												
PCDH20	64881	broad.mit.edu	37	13	61987429	61987429	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:61987429C>T	uc001vid.3	-	2	1167	c.803G>A	c.(802-804)CGC>CAC	p.R268H	PCDH20_uc010thj.1_Missense_Mutation_p.R268H	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	241	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GTAGGGGGTGCGCTCCCCATT	0.522												
PCDH9	5101	broad.mit.edu	37	13	67477738	67477738	+	Splice_Site	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:67477738C>T	uc001vik.2	-	3	3729	c.3037_splice	c.e3-1	p.C1013_splice	PCDH9_uc010aei.2_Splice_Site|PCDH9_uc001vil.2_Intron|PCDH9_uc010thl.1_Splice_Site_p.C1013_splice	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GTGAGTTACACTGAAAGAGAT	0.413												
PCDH9	5101	broad.mit.edu	37	13	67801412	67801412	+	Silent	SNP	T	T	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:67801412T>G	uc001vik.2	-	2	1853	c.1161A>C	c.(1159-1161)ACA>ACC	p.T387T	PCDH9_uc001vil.2_Silent_p.T387T|PCDH9_uc010thl.1_Silent_p.T387T|PCDH9_uc001vin.3_Silent_p.T387T	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	387	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TATCTGAAACTGTAATTAGGG	0.378												
LMO7	4008	broad.mit.edu	37	13	76432062	76432062	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:76432062C>T	uc001vjv.2	+	27	4831	c.4071C>T	c.(4069-4071)GAC>GAT	p.D1357D	LMO7_uc010thv.1_Missense_Mutation_p.R1345W|LMO7_uc010thw.1_Missense_Mutation_p.R1271W|LMO7_uc001vjx.1_RNA	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	Error:Variant_position_missing_in_Q8WWI1_after_alignment						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ATCAGCTGGACGGCCAACCGC	0.438												
UGGT2	55757	broad.mit.edu	37	13	96601605	96601605	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:96601605C>T	uc001vmt.2	-	13	1609	c.1439G>A	c.(1438-1440)CGC>CAC	p.R480H		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	UDP-glucose ceramide glucosyltransferase-like 2	480					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						ATGAAAATTGCGCCTTATGGA	0.274												
IPO5	3843	broad.mit.edu	37	13	98671871	98671871	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:98671871C>T	uc001vne.2	+	27	3107	c.2927C>T	c.(2926-2928)GCG>GTG	p.A976V		NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	958	HEAT 6.				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3						ATTCAGTCTGCGGATTCTAAG	0.383												
TMTC4	84899	broad.mit.edu	37	13	101287385	101287385	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:101287385G>A	uc001vou.2	-	10	1370	c.1210C>T	c.(1210-1212)CGA>TGA	p.R404*	TMTC4_uc001vot.2_Nonsense_Mutation_p.R423*|TMTC4_uc010tja.1_Nonsense_Mutation_p.R293*|TMTC4_uc001vov.1_Nonsense_Mutation_p.R149*|TMTC4_uc001vow.1_Nonsense_Mutation_p.R187*	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	404						integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AAGCCCACTCGGAAGAACAGG	0.498												
ITGBL1	9358	broad.mit.edu	37	13	102250558	102250558	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:102250558G>T	uc001vpb.2	+	7	1143	c.924G>T	c.(922-924)AAG>AAT	p.K308N	ITGBL1_uc010agb.2_Missense_Mutation_p.K259N|ITGBL1_uc001vpc.3_Missense_Mutation_p.K167N	NM_004791	NP_004782	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat	308	VI.|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			ovary(1)|skin(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGTATGGGAAGAAGTGTGAGC	0.498												
ERCC5	2073	broad.mit.edu	37	13	103518646	103518646	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:103518646C>T	uc001vpw.2	+	10	2677	c.2234C>T	c.(2233-2235)GCA>GTA	p.A745V	ERCC5_uc001vpu.1_Missense_Mutation_p.A1199V|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.A577V	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	745					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AACCTCTTAGCACAGCAGAAT	0.413			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
EFNB2	1948	broad.mit.edu	37	13	107164918	107164918	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:107164918C>A	uc001vqi.2	-	2	390	c.365G>T	c.(364-366)TGG>TTG	p.W122L		NM_004093	NP_004084	P52799	EFNB2_HUMAN	ephrin B2 precursor	122	Extracellular (Potential).			LW->YM: Complete loss of Nipah protein G binding.	cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			ovary(1)	1	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TTCTAGACCCCAGAGGTTAGG	0.313												
COL4A1	1282	broad.mit.edu	37	13	110838886	110838886	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:110838886C>T	uc001vqw.3	-	26	1865	c.1743G>A	c.(1741-1743)TTG>TTA	p.L581L	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	581	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GCTCTCCTTTCAATCCTACAG	0.542												
ING1	3621	broad.mit.edu	37	13	111371924	111371924	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:111371924C>T	uc001vri.2	+	2	1346	c.914C>T	c.(913-915)GCG>GTG	p.A305V	ING1_uc001vrf.2_Missense_Mutation_p.A118V|ING1_uc001vrg.2_Missense_Mutation_p.A93V|ING1_uc001vrh.2_Missense_Mutation_p.A162V	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1 isoform D	305					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			ovary(1)	1	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CGTGAGAACGCGTCCAGCAAC	0.657												
ARHGEF7	8874	broad.mit.edu	37	13	111932912	111932912	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:111932912C>T	uc001vrs.2	+	16	1926	c.1676C>T	c.(1675-1677)TCG>TTG	p.S559L	ARHGEF7_uc001vrr.2_Missense_Mutation_p.S538L|ARHGEF7_uc001vrt.2_Missense_Mutation_p.S509L|ARHGEF7_uc010tjn.1_RNA|ARHGEF7_uc001vru.1_Missense_Mutation_p.S381L|ARHGEF7_uc001vrv.3_Missense_Mutation_p.S381L|ARHGEF7_uc001vrw.3_Missense_Mutation_p.S381L|ARHGEF7_uc001vrx.3_Missense_Mutation_p.S381L|ARHGEF7_uc010tjo.1_Missense_Mutation_p.S456L|ARHGEF7_uc010tjp.1_Missense_Mutation_p.S303L|ARHGEF7_uc001vry.1_5'Flank	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform c	559	PH.				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)			ATATTAGTGTCGTGCAACAAC	0.507												
SOX1	6656	broad.mit.edu	37	13	112722343	112722343	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:112722343G>A	uc001vsb.1	+	1	431	c.371G>A	c.(370-372)CGC>CAC	p.R124H		NM_005986	NP_005977	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	124					chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		CGGCCGCGCCGCAAGACCAAG	0.493												
F7	2155	broad.mit.edu	37	13	113768274	113768274	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:113768274C>T	uc001vsv.2	+	5	481	c.430C>T	c.(430-432)CAC>TAC	p.H144Y	F7_uc010agp.1_Missense_Mutation_p.H137Y|F7_uc001vsw.2_Missense_Mutation_p.H122Y|F7_uc010tjt.1_Missense_Mutation_p.H75Y	NM_000131	NP_000122	P08709	FA7_HUMAN	coagulation factor VII isoform a precursor	144					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)	CTGTGAGACGCGTAAGGCCCC	0.632												
TMCO3	55002	broad.mit.edu	37	13	114193765	114193765	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:114193765G>A	uc001vtu.3	+	10	1994	c.1633G>A	c.(1633-1635)GCC>ACC	p.A545T		NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	545						integral to membrane	solute:hydrogen antiporter activity				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CGAGGAGATCGCCACCTCCAT	0.557												
OR4K15	81127	broad.mit.edu	37	14	20444458	20444458	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:20444458C>T	uc010tkx.1	+	1	781	c.781C>T	c.(781-783)CGC>TGC	p.R261C		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	261	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCGAAGGCCCGCTCCACATT	0.458												
MMP14	4323	broad.mit.edu	37	14	23315098	23315098	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:23315098C>T	uc001whc.2	+	10	1833	c.1599C>T	c.(1597-1599)GGC>GGT	p.G533G		NM_004995	NP_004986	P50281	MMP14_HUMAN	matrix metalloproteinase 14 preproprotein	533	Extracellular (Potential).					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		ACGAGGAGGGCGGCGGGGCGG	0.682												
JPH4	84502	broad.mit.edu	37	14	24045135	24045135	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:24045135G>A	uc001wkq.2	-	4	1828	c.910C>T	c.(910-912)CGC>TGC	p.R304C	JPH4_uc010tnr.1_5'Flank|JPH4_uc001wkr.2_Missense_Mutation_p.R304C|JPH4_uc001wks.2_Missense_Mutation_p.R304C	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	junctophilin 4	304	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				ovary(1)|pancreas(1)	2	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CCCTCGTAGCGCAGCCCGTTG	0.701												
DCAF11	80344	broad.mit.edu	37	14	24589026	24589026	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:24589026G>A	uc001wlv.2	+	11	1293	c.1013G>A	c.(1012-1014)CGC>CAC	p.R338H	DCAF11_uc001wlw.2_Missense_Mutation_p.R338H|DCAF11_uc001wlz.2_Missense_Mutation_p.R238H|DCAF11_uc001wly.2_Missense_Mutation_p.R294H|DCAF11_uc001wme.2_Missense_Mutation_p.R298H|DCAF11_uc010tny.1_Missense_Mutation_p.R205H|DCAF11_uc001wmd.2_Missense_Mutation_p.R338H|DCAF11_uc001wmc.2_Missense_Mutation_p.R238H|DCAF11_uc001wmb.3_Missense_Mutation_p.R312H|DCAF11_uc001wma.3_Missense_Mutation_p.R338H	NM_001163484	NP_001156956	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11 isoform 1	338	WD 4.					CUL4 RING ubiquitin ligase complex	protein binding				0						TGGGATCGACGCACCATGCGG	0.552												
ADCY4	196883	broad.mit.edu	37	14	24802094	24802094	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:24802094C>T	uc001wov.2	-	2	266	c.260G>A	c.(259-261)CGC>CAC	p.R87H	ADCY4_uc001wow.2_Missense_Mutation_p.R87H|ADCY4_uc010toh.1_5'UTR|ADCY4_uc001wox.2_Missense_Mutation_p.R87H|ADCY4_uc001woy.2_Missense_Mutation_p.R87H|ADCY4_uc001woz.3_Missense_Mutation_p.R87H	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	87					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	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		ACGCGTCCAGCGCTGCAGTCG	0.697											OREG0022624	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NFATC4	4776	broad.mit.edu	37	14	24842495	24842495	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:24842495C>T	uc001wpc.2	+	4	1799	c.1478C>T	c.(1477-1479)GCC>GTC	p.A493V	NFATC4_uc010tok.1_Missense_Mutation_p.A556V|NFATC4_uc010tol.1_Missense_Mutation_p.A556V|NFATC4_uc010alr.2_Missense_Mutation_p.A556V|NFATC4_uc010als.2_Missense_Mutation_p.A506V|NFATC4_uc010tom.1_Missense_Mutation_p.A506V|NFATC4_uc010ton.1_Missense_Mutation_p.A506V|NFATC4_uc010too.1_Missense_Mutation_p.A506V|NFATC4_uc010alt.2_Missense_Mutation_p.A525V|NFATC4_uc010top.1_Missense_Mutation_p.A525V|NFATC4_uc010toq.1_Missense_Mutation_p.A525V|NFATC4_uc010alu.2_Missense_Mutation_p.A185V|NFATC4_uc010tor.1_Missense_Mutation_p.A493V|NFATC4_uc010tos.1_Missense_Mutation_p.A423V|NFATC4_uc010tot.1_Missense_Mutation_p.A481V|NFATC4_uc010tou.1_Missense_Mutation_p.A423V|NFATC4_uc010tov.1_Missense_Mutation_p.A481V|NFATC4_uc010tow.1_Missense_Mutation_p.A423V|NFATC4_uc010alv.2_Missense_Mutation_p.A481V|NFATC4_uc010tox.1_Missense_Mutation_p.A423V|NFATC4_uc001wpd.2_Missense_Mutation_p.A28V|NFATC4_uc010toy.1_Missense_Mutation_p.A28V|NFATC4_uc010toz.1_Missense_Mutation_p.A28V|NFATC4_uc010tpa.1_5'Flank|NFATC4_uc010tpb.1_5'Flank	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	493	RHD.				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)		AAGATGGTGGCCACGGCCAGC	0.547												
FOXG1	2290	broad.mit.edu	37	14	29237000	29237000	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:29237000G>C	uc001wqe.2	+	1	714	c.515G>C	c.(514-516)GGC>GCC	p.G172A		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	172	Gly-rich.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		ggcaaggagggcgagaagaag	0.323												
HECTD1	25831	broad.mit.edu	37	14	31582679	31582679	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:31582679C>T	uc001wrc.1	-	33	6357	c.5868G>A	c.(5866-5868)GAG>GAA	p.E1956E	HECTD1_uc001wra.1_Silent_p.E82E|HECTD1_uc001wrb.1_Silent_p.E82E|HECTD1_uc001wrd.1_Silent_p.E1424E	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1956					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)		TTGTTCCATGCTCACAAAAAT	0.363												
SRP54	6729	broad.mit.edu	37	14	35498275	35498275	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:35498275G>A	uc001wso.2	+	16	1783	c.1432G>A	c.(1432-1434)GCA>ACA	p.A478T	SRP54_uc010tpp.1_Missense_Mutation_p.A429T|SRP54_uc010tpq.1_Missense_Mutation_p.A414T	NM_003136	NP_003127	P61011	SRP54_HUMAN	signal recognition particle 54kDa isoform 1	478	M-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			ovary(1)	1	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		AGGTGGTATGGCAGGACTTCA	0.363												
SSTR1	6751	broad.mit.edu	37	14	38679662	38679662	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:38679662C>T	uc001wul.1	+	3	1685	c.1068C>T	c.(1066-1068)ACC>ACT	p.T356T	SSTR1_uc010amu.1_Intron	NM_001049	NP_001040	P30872	SSR1_HUMAN	somatostatin receptor 1	356	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)	ATTACGCCACCGCGCTCAAGA	0.582												
LRFN5	145581	broad.mit.edu	37	14	42356185	42356185	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:42356185C>T	uc001wvm.2	+	3	1555	c.357C>T	c.(355-357)TTC>TTT	p.F119F	LRFN5_uc010ana.2_Silent_p.F119F	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	119	Extracellular (Potential).|LRR 3.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ATGATATGTTCAGTGGTCTTT	0.378										HNSCC(30;0.082)		
FAM179B	23116	broad.mit.edu	37	14	45542625	45542625	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:45542625G>A	uc001wvv.2	+	19	5233	c.5024G>A	c.(5023-5025)CGA>CAA	p.R1675Q	FAM179B_uc001wvw.2_Missense_Mutation_p.R1728Q|FAM179B_uc010anc.2_RNA	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	1675							binding			skin(2)|upper_aerodigestive_tract(1)	3						GGAAATATACGAACAGCCACA	0.428												
SAV1	60485	broad.mit.edu	37	14	51111571	51111571	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:51111571G>A	uc001wyg.1	-	4	858	c.697C>T	c.(697-699)CGA>TGA	p.R233*	SAV1_uc001wyh.1_Nonsense_Mutation_p.R233*	NM_021818	NP_068590	Q9H4B6	SAV1_HUMAN	WW45 protein	233					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)	1	all_epithelial(31;0.000611)|Breast(41;0.0333)					AGTCCTTCTCGCTCAAGAGGA	0.458												
DDHD1	80821	broad.mit.edu	37	14	53522429	53522429	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:53522429G>A	uc001xai.2	-	10	2424	c.2194C>T	c.(2194-2196)CGC>TGC	p.R732C	DDHD1_uc001xaj.2_Missense_Mutation_p.R739C|DDHD1_uc001xah.2_Missense_Mutation_p.R732C|DDHD1_uc001xag.2_Missense_Mutation_p.R314C|DDHD1_uc001xak.1_Missense_Mutation_p.R128C	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1 isoform c	732	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			ovary(2)	2	Breast(41;0.037)					TAGTGTCGGCGGGACAAAACT	0.408												
RTN1	6252	broad.mit.edu	37	14	60063471	60063471	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:60063471C>T	uc001xen.1	-	9	2532	c.2323G>A	c.(2323-2325)GCT>ACT	p.A775T	RTN1_uc001xem.1_Missense_Mutation_p.A355T|RTN1_uc001xek.1_Missense_Mutation_p.A207T|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Missense_Mutation_p.A192T	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	775	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GTTTACTCAGCATGCCTCTTA	0.393												
TRMT5	57570	broad.mit.edu	37	14	61446285	61446285	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:61446285G>A	uc001xff.3	-	2	422	c.331C>T	c.(331-333)CGA>TGA	p.R111*	SLC38A6_uc001xfg.1_5'Flank|SLC38A6_uc001xfh.1_5'Flank|SLC38A6_uc001xfi.2_5'Flank|SLC38A6_uc001xfj.1_5'Flank|SLC38A6_uc001xfk.2_5'Flank|SLC38A6_uc010trz.1_5'Flank	NM_020810	NP_065861	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	111						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			central_nervous_system(2)|large_intestine(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TTTAGGGATCGCATCAATTTA	0.403												
SYNE2	23224	broad.mit.edu	37	14	64520155	64520155	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:64520155C>A	uc001xgm.2	+	48	9754	c.9524C>A	c.(9523-9525)CCA>CAA	p.P3175Q	SYNE2_uc001xgl.2_Missense_Mutation_p.P3175Q|SYNE2_uc010apw.1_5'Flank	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3175	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTACAGCAGCCATTACTTATA	0.308												
FUT8	2530	broad.mit.edu	37	14	66209091	66209091	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:66209091C>T	uc001xin.2	+	11	2888	c.1691C>T	c.(1690-1692)ACG>ATG	p.T564M	FUT8_uc001xio.2_Missense_Mutation_p.T564M|FUT8_uc010tsp.1_Missense_Mutation_p.T401M|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.T564M|FUT8_uc001xiq.2_Missense_Mutation_p.T435M|FUT8_uc001xis.2_Missense_Mutation_p.T158M	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 isoform a	564	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)		AAGATAGAAACGGTCAAGTAC	0.443												
PLEK2	26499	broad.mit.edu	37	14	67864541	67864541	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:67864541G>A	uc001xjh.1	-	2	97	c.45C>T	c.(43-45)GGC>GGT	p.G15G		NM_016445	NP_057529	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	15	PH 1.				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				ovary(1)|pancreas(1)	2				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		GGACAATGTGGCCCTATGGAC	0.582												
RDH12	145226	broad.mit.edu	37	14	68191306	68191306	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:68191306G>A	uc001xjz.3	+	4	509	c.185G>A	c.(184-186)CGA>CAA	p.R62Q		NM_152443	NP_689656	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12	62					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			ovary(1)	1				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	CTCGCTAGCCGAGGTAAGTGT	0.552												
DCAF5	8816	broad.mit.edu	37	14	69521511	69521511	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:69521511G>A	uc001xkp.2	-	9	2111	c.1892C>T	c.(1891-1893)TCG>TTG	p.S631L	DCAF5_uc001xkq.2_Missense_Mutation_p.S630L	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	WD repeat domain 22	631						CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)	2						CTCAGGGGACGAGGTTGGGGA	0.493												
DPF3	8110	broad.mit.edu	37	14	73140953	73140953	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:73140953C>T	uc001xnc.2	-	8	879	c.866G>A	c.(865-867)CGC>CAC	p.R289H	DPF3_uc001xnd.1_RNA|DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Missense_Mutation_p.R289H|DPF3_uc010ttq.1_Missense_Mutation_p.R299H	NM_012074	NP_036206	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	289	PHD-type 1.				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTCACCAGAGCGTCCACAGTC	0.577												
DCAF4	26094	broad.mit.edu	37	14	73425386	73425386	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:73425386C>T	uc001xng.2	+	14	1581	c.1361C>T	c.(1360-1362)TCC>TTC	p.S454F	DCAF4_uc001xnj.2_Missense_Mutation_p.S448F|DCAF4_uc010ttr.1_Missense_Mutation_p.S433F|DCAF4_uc001xnh.2_Missense_Mutation_p.S354F|DCAF4_uc010tts.1_Missense_Mutation_p.S394F|DCAF4_uc010ttt.1_Missense_Mutation_p.S240F|DCAF4_uc001xni.2_Missense_Mutation_p.S284F	NM_015604	NP_056419	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4 isoform 1	454						CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)|skin(1)	3						ACCATACCCTCCCCGTACCCT	0.657												
PAPLN	89932	broad.mit.edu	37	14	73732083	73732083	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:73732083G>A	uc010ttx.1	+	22	3294	c.3131G>A	c.(3130-3132)CGT>CAT	p.R1044H	PAPLN_uc001xnw.3_Missense_Mutation_p.R1017H|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.R1028H|PAPLN_uc010arm.2_Missense_Mutation_p.R243H|PAPLN_uc010arn.2_Missense_Mutation_p.R244H	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	1044	Ig-like C2-type 2.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GGCAGGCTGCGTTTGGACCAG	0.677												
C14orf43	91748	broad.mit.edu	37	14	74193655	74193655	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:74193655C>T	uc001xot.2	-	6	2966	c.2183G>A	c.(2182-2184)CGG>CAG	p.R728Q	C14orf43_uc001xos.2_5'UTR|C14orf43_uc001xou.2_Missense_Mutation_p.R728Q|C14orf43_uc010tud.1_Missense_Mutation_p.R728Q|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	728	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		TGCCTGGAACCGGGAGCCCAC	0.597												
YLPM1	56252	broad.mit.edu	37	14	75276988	75276988	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:75276988G>A	uc001xqj.3	+	9	5217	c.5093G>A	c.(5092-5094)CGT>CAT	p.R1698H	YLPM1_uc001xql.3_RNA|YLPM1_uc001xqm.1_Missense_Mutation_p.R181H	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	1503	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TATTTTGATCGTCAAAGTAAT	0.393												
MLH3	27030	broad.mit.edu	37	14	75513336	75513336	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:75513336G>A	uc001xrd.1	-	2	3239	c.3023C>T	c.(3022-3024)CCG>CTG	p.P1008L	MLH3_uc001xre.1_Missense_Mutation_p.P1008L|MLH3_uc010tuy.1_RNA	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	1008					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ATCTTCTACCGGATTCATTAA	0.393								MMR				
TMED8	283578	broad.mit.edu	37	14	77809701	77809701	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:77809701G>A	uc001xto.1	-	5	580	c.580C>T	c.(580-582)CGG>TGG	p.R194W	TMED8_uc010ast.1_RNA|TMED8_uc001xtn.1_Missense_Mutation_p.R38W	NM_213601	NP_998766	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain	194	GOLD.				transport	integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GTAGGTACCCGGATGGTCACC	0.517												
C14orf174	161394	broad.mit.edu	37	14	77857438	77857438	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:77857438G>A	uc001xtq.1	+	3	1876	c.1876G>A	c.(1876-1878)GGC>AGC	p.G626S		NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	hypothetical protein LOC161394	626											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)		GGATATTATCGGCTTATATTT	0.418												
VIPAR	63894	broad.mit.edu	37	14	77907427	77907427	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:77907427A>G	uc001xtt.1	-	12	1082	c.744T>C	c.(742-744)GAT>GAC	p.D248D	VIPAR_uc001xtu.1_Silent_p.D248D|VIPAR_uc010tvj.1_Silent_p.D199D|VIPAR_uc001xtv.1_Silent_p.D248D	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	hypothetical protein LOC63894	248					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						CTTCTGTTCTATCTAGGAACC	0.373												
TSHR	7253	broad.mit.edu	37	14	81609460	81609460	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:81609460A>G	uc001xvd.1	+	10	1214	c.1058A>G	c.(1057-1059)TAC>TGC	p.Y353C		NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	353	Extracellular (Potential).				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GCTCATTATTACGTCTTCTTT	0.448			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 					
SEL1L	6400	broad.mit.edu	37	14	81943446	81943446	+	Missense_Mutation	SNP	G	G	A	rs141918133		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:81943446G>A	uc010tvv.1	-	21	2372	c.2255C>T	c.(2254-2256)GCG>GTG	p.A752V		NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like precursor	752	Mediates retention to the endoplasmic reticulum.|Helical; (Potential).				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CAACAGCAGCGCAATGATGGT	0.512												
SERPINA6	866	broad.mit.edu	37	14	94776089	94776089	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:94776089C>T	uc001ycv.2	-	3	972	c.868G>A	c.(868-870)GCA>ACA	p.A290T	SERPINA6_uc010auv.2_RNA	NM_001756	NP_001747	P08185	CBG_HUMAN	corticosteroid binding globulin precursor	290					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			skin(3)|ovary(1)|central_nervous_system(1)	5		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GTCAGGCCTGCGGACCACCTG	0.562												
DEGS2	123099	broad.mit.edu	37	14	100616037	100616037	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:100616037C>T	uc001ygx.2	-	2	181	c.93G>A	c.(91-93)CCG>CCA	p.P31P		NM_206918	NP_996801	Q6QHC5	DEGS2_HUMAN	degenerative spermatocyte homolog 2, lipid	31					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity				0		Melanoma(154;0.212)				CCTTGATGGCCGGGTACTTGG	0.701												
WARS	7453	broad.mit.edu	37	14	100801237	100801237	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:100801237C>A	uc001yhf.1	-	10	1475	c.1391G>T	c.(1390-1392)CGG>CTG	p.R464L	WARS_uc001yhe.1_Missense_Mutation_p.R270L|WARS_uc001yhg.1_Missense_Mutation_p.R464L|WARS_uc001yhh.1_Missense_Mutation_p.R464L|WARS_uc001yhi.1_Missense_Mutation_p.R423L|WARS_uc001yhj.1_Missense_Mutation_p.R423L|WARS_uc001yhk.1_Missense_Mutation_p.R423L|WARS_uc001yhl.1_Missense_Mutation_p.R464L	NM_173701	NP_776049	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase isoform a	464					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(1)	1		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	GGACAGCTTCCGGGGAGTCAT	0.478												
DYNC1H1	1778	broad.mit.edu	37	14	102452687	102452687	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:102452687C>T	uc001yks.2	+	8	2289	c.2125C>T	c.(2125-2127)CGC>TGC	p.R709C		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	709	Interaction with DYNC1LI2 (By similarity).|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						GGTGCAGCAGCGCAACCTCGG	0.537												
DYNC1H1	1778	broad.mit.edu	37	14	102466418	102466418	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:102466418G>A	uc001yks.2	+	17	4061	c.3897G>A	c.(3895-3897)AAG>AAA	p.K1299K		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	1299	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						AGTGTGCAAAGGCCAAGGAGG	0.557												
TECPR2	9895	broad.mit.edu	37	14	102912234	102912234	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:102912234A>C	uc001ylw.1	+	13	3173	c.3025A>C	c.(3025-3027)ACT>CCT	p.T1009P	TECPR2_uc010awl.2_Missense_Mutation_p.T1009P|TECPR2_uc010txx.1_Missense_Mutation_p.T172P	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1009	TECPR 2.						protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						GTGGTTCAGAACTGGCATTAT	0.542												
AHNAK2	113146	broad.mit.edu	37	14	105410506	105410506	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:105410506T>C	uc010axc.1	-	7	11402	c.11282A>G	c.(11281-11283)GAT>GGT	p.D3761G	AHNAK2_uc001ypx.2_Missense_Mutation_p.D3661G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3761						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)			CACCTCCACATCAGGGGCTGT	0.607												
AHNAK2	113146	broad.mit.edu	37	14	105412039	105412039	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:105412039C>T	uc010axc.1	-	7	9869	c.9749G>A	c.(9748-9750)GGC>GAC	p.G3250D	AHNAK2_uc001ypx.2_Missense_Mutation_p.G3150D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3250						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)			CAGCTTGGGGCCCTTGATGTC	0.622												
CRIP1	1396	broad.mit.edu	37	14	105954725	105954725	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:105954725G>T	uc001yri.3	+	4	307	c.193G>T	c.(193-195)GGC>TGC	p.G65C	C14orf80_uc001yrj.2_5'Flank|C14orf80_uc001yrk.2_5'Flank|C14orf80_uc001yrn.2_5'Flank|C14orf80_uc001yro.2_5'Flank|C14orf80_uc001yrm.2_5'Flank	NM_001311	NP_001302	P50238	CRIP1_HUMAN	cysteine-rich protein 1 (intestinal)	65	Gly-rich.				cell proliferation	cytoplasm	zinc ion binding				0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		TGGGCCTAAAGGTATGCTCCC	0.547												
CYFIP1	23191	broad.mit.edu	37	15	22962283	22962283	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:22962283A>G	uc001yus.2	+	19	2215	c.2111A>G	c.(2110-2112)TAC>TGC	p.Y704C	CYFIP1_uc001yut.2_Missense_Mutation_p.Y704C|CYFIP1_uc010aya.1_Missense_Mutation_p.Y732C|CYFIP1_uc001yuu.2_Missense_Mutation_p.Y273C	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	704				Y->D: Constitutive induction of the formation of actin filaments; when associated with D-697.	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)		CAATTTGTTTACAAGCTAGCA	0.343												
CYFIP1	23191	broad.mit.edu	37	15	22999391	22999391	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:22999391G>A	uc001yus.2	+	29	3367	c.3263G>A	c.(3262-3264)TGC>TAC	p.C1088Y	CYFIP1_uc001yut.2_Missense_Mutation_p.C1088Y|CYFIP1_uc001yuu.2_Missense_Mutation_p.C657Y|CYFIP1_uc001yuv.2_Missense_Mutation_p.C282Y	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	1088					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)		CGCCTCTGCTGCGGCCTGTCC	0.607												
HERC2	8924	broad.mit.edu	37	15	28473545	28473545	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:28473545C>T	uc001zbj.2	-	35	5389	c.5283G>A	c.(5281-5283)CCG>CCA	p.P1761P		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1761					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)		GCAGGGGAACCGGCTGGATAC	0.527												
MTMR15	22909	broad.mit.edu	37	15	31206224	31206224	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:31206224C>T	uc001zff.2	+	5	2032	c.1741C>T	c.(1741-1743)CGA>TGA	p.R581*	MTMR15_uc001zfe.2_Nonsense_Mutation_p.R186*	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	myotubularin related protein 15 isoform a	581					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding				0		all_lung(180;2.23e-09)		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)		CAACCTCGGCCGAATGGAGTT	0.458								Direct_reversal_of_damage|Editing_and_processing_nucleases				
SLC12A6	9990	broad.mit.edu	37	15	34531214	34531214	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:34531214T>C	uc001zhw.2	-	19	2748	c.2584A>G	c.(2584-2586)AAT>GAT	p.N862D	SLC12A6_uc001zhv.2_Missense_Mutation_p.N811D|SLC12A6_uc001zhx.2_Missense_Mutation_p.N847D|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.N803D|SLC12A6_uc001zib.2_Missense_Mutation_p.N853D|SLC12A6_uc001zic.2_Missense_Mutation_p.N862D|SLC12A6_uc010bau.2_Missense_Mutation_p.N862D|SLC12A6_uc001zid.2_Missense_Mutation_p.N803D|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Missense_Mutation_p.N674D	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	862					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|ovary(1)|skin(1)	7		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CGCCAGCCATTAGGCCAGCCC	0.537												
LPCAT4	254531	broad.mit.edu	37	15	34652368	34652368	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:34652368G>C	uc001zig.2	-	12	1280	c.1186C>G	c.(1186-1188)CTA>GTA	p.L396V		NM_153613	NP_705841	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	396					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding				0						AGAGCTGCTAGTGCAAGGGCC	0.592												
IVD	3712	broad.mit.edu	37	15	40700156	40700156	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:40700156G>A	uc001zls.3	+	3	596	c.262G>A	c.(262-264)GGG>AGG	p.G88R	IVD_uc001zlq.2_Missense_Mutation_p.G58R	NM_002225	NP_002216	P26440	IVD_HUMAN	isovaleryl Coenzyme A dehydrogenase isoform 1	85					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			ovary(1)	1		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-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;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		GAAGCAGCTGGGGAACCTGGG	0.478												
CASC5	57082	broad.mit.edu	37	15	40915554	40915554	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:40915554C>T	uc010bbs.1	+	11	3331	c.3170C>T	c.(3169-3171)GCT>GTT	p.A1057V	CASC5_uc010ucq.1_Missense_Mutation_p.A881V|CASC5_uc001zme.2_Missense_Mutation_p.A1031V|CASC5_uc010bbt.1_Missense_Mutation_p.A1031V	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	1057	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GTAGAGGTAGCTGATAACATG	0.423												
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42132848	42132848	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:42132848G>T	uc010bco.2	+	3	310	c.209G>T	c.(208-210)AGG>ATG	p.R70M	JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.R301M|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.R301M|JMJD7-PLA2G4B_uc001zoq.3_Translation_Start_Site|JMJD7-PLA2G4B_uc001zor.1_5'Flank	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB	70	C2.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			large_intestine(1)	1						AGGATCCACAGGCAGCTCAAG	0.632												
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42134398	42134398	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:42134398C>A	uc010bco.2	+	9	730	c.629C>A	c.(628-630)CCC>CAC	p.P210H	JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.P441H|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.P441H|JMJD7-PLA2G4B_uc001zoq.3_5'UTR|JMJD7-PLA2G4B_uc001zor.1_5'Flank	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB	210					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			large_intestine(1)	1						CAGGATGCCCCCGAGGAGCAA	0.572												
CAPN3	825	broad.mit.edu	37	15	42681202	42681202	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:42681202G>T	uc001zpn.1	+	5	1015	c.709G>T	c.(709-711)GAG>TAG	p.E237*	CAPN3_uc001zpk.1_Nonsense_Mutation_p.E10*|CAPN3_uc001zpl.1_Nonsense_Mutation_p.E150*|CAPN3_uc010udf.1_Nonsense_Mutation_p.E150*|CAPN3_uc010udg.1_Nonsense_Mutation_p.E150*|CAPN3_uc001zpo.1_Nonsense_Mutation_p.E237*|CAPN3_uc001zpp.1_Nonsense_Mutation_p.E237*	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	237	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		AGGGGTGGCAGAGTTTTTTGA	0.502												
ZFP106	64397	broad.mit.edu	37	15	42743249	42743249	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:42743249C>A	uc001zpw.2	-	2	1487	c.1152G>T	c.(1150-1152)TTG>TTT	p.L384F	ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.L167F|ZFP106_uc001zpy.1_Missense_Mutation_p.L407F	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	384						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)		CTGTAGTTATCAAGCTAAAAT	0.388												
TGM7	116179	broad.mit.edu	37	15	43585663	43585663	+	Silent	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:43585663G>T	uc001zrf.1	-	2	182	c.177C>A	c.(175-177)ACC>ACA	p.T59T		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	transglutaminase 7	59					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)	2		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CAGCCACAAAGGTGATGTGGT	0.627												
MAP1A	4130	broad.mit.edu	37	15	43816368	43816368	+	Silent	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:43816368C>A	uc001zrt.2	+	4	3164	c.2697C>A	c.(2695-2697)TCC>TCA	p.S899S		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	899						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CACCCACCTCCTCACTGGAAG	0.537												
DUOX1	53905	broad.mit.edu	37	15	45454089	45454089	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:45454089G>A	uc001zus.1	+	31	4356	c.4010G>A	c.(4009-4011)CGG>CAG	p.R1337Q	DUOX1_uc001zut.1_Missense_Mutation_p.R1337Q|DUOX1_uc010bee.1_Missense_Mutation_p.R717Q	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	1337	Cytoplasmic (Potential).|FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTGCACATCCGGGCAGCAGGG	0.637												
SPATA5L1	79029	broad.mit.edu	37	15	45694912	45694912	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:45694912C>T	uc001zve.2	+	1	394	c.285C>T	c.(283-285)AGC>AGT	p.S95S	uc001zvd.2_5'Flank|SPATA5L1_uc001zvf.2_RNA	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	95						cytoplasm	ATP binding|nucleoside-triphosphatase activity			ovary(3)|skin(1)	4		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GGAGTCTCAGCCTGAATCGCC	0.746												
ATP8B4	79895	broad.mit.edu	37	15	50271884	50271884	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:50271884A>G	uc001zxu.2	-	12	1106	c.964T>C	c.(964-966)TCC>CCC	p.S322P	ATP8B4_uc010ber.2_Missense_Mutation_p.S195P|ATP8B4_uc010ufd.1_Missense_Mutation_p.S195P|ATP8B4_uc010ufe.1_RNA	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	322	Extracellular (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			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AAGAATCCGGAGAACACAGAG	0.343												
RAB27A	5873	broad.mit.edu	37	15	55522599	55522599	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:55522599C>T	uc002aco.2	-	4	472	c.239G>A	c.(238-240)AGG>AAG	p.R80K	RAB27A_uc002acr.2_Missense_Mutation_p.R80K|RAB27A_uc002acp.2_Missense_Mutation_p.R80K|RAB27A_uc002acq.2_Missense_Mutation_p.R80K	NM_183234	NP_899057	P51159	RB27A_HUMAN	Ras-related protein Rab-27A	80					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			ovary(1)	1				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		GATCTCATACCTCTCCTGCCC	0.488												
FAM63B	54629	broad.mit.edu	37	15	59102469	59102469	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:59102469C>T	uc002afj.2	+	4	1206	c.1004C>T	c.(1003-1005)ACA>ATA	p.T335I	FAM63B_uc002afi.2_Missense_Mutation_p.T335I|FAM63B_uc002afk.2_RNA|FAM63B_uc002afl.2_RNA	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN	hypothetical protein LOC54629 isoform a	335										central_nervous_system(1)	1						AAACTACAGACAGGCCTGGAT	0.358												
HERC1	8925	broad.mit.edu	37	15	63952005	63952005	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:63952005G>A	uc002amp.2	-	47	9502	c.9354C>T	c.(9352-9354)AGC>AGT	p.S3118S		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	3118					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						CCAGTGGATCGCTGTCAGGGA	0.438												
CILP	8483	broad.mit.edu	37	15	65499120	65499120	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:65499120C>T	uc002aon.2	-	4	605	c.424G>A	c.(424-426)GGA>AGA	p.G142R		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	142					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						TCTGGCTTACCTGGTGGGCAG	0.612												
DPP8	54878	broad.mit.edu	37	15	65739248	65739248	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:65739248G>A	uc002aov.2	-	20	4249	c.2671C>T	c.(2671-2673)CGT>TGT	p.R891C	DPP8_uc002aow.2_Missense_Mutation_p.R891C|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.R875C|DPP8_uc002aoy.2_Missense_Mutation_p.R840C|DPP8_uc002aoz.2_Missense_Mutation_p.R775C|DPP8_uc010bhj.2_Missense_Mutation_p.R891C|DPP8_uc002apa.2_Missense_Mutation_p.R684C|DPP8_uc010bhi.2_Missense_Mutation_p.R194C	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	dipeptidyl peptidase 8 isoform 1	891					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			ovary(1)	1						GCAGCAATACGTGATCCAAGG	0.383												
TIPIN	54962	broad.mit.edu	37	15	66629397	66629397	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:66629397C>T	uc002apr.2	-	8	891	c.805G>A	c.(805-807)GCC>ACC	p.A269T	TIPIN_uc010ujn.1_Missense_Mutation_p.A168T|TIPIN_uc010ujo.1_Missense_Mutation_p.A168T	NM_017858	NP_060328	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	269					cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding			ovary(1)	1						AAAGTATTGGCAATAGCATCA	0.383												
MAP2K1	5604	broad.mit.edu	37	15	66729203	66729203	+	Silent	SNP	C	C	T	rs146415623		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:66729203C>T	uc010bhq.2	+	3	886	c.411C>T	c.(409-411)GGC>GGT	p.G137G	MAP2K1_uc010ujp.1_Silent_p.G115G	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	137	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						ACAGCGATGGCGAGATCAGTA	0.532									Cardiofaciocutaneous_syndrome			
SMAD3	4088	broad.mit.edu	37	15	67477177	67477177	+	Silent	SNP	G	G	A	rs150994304		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:67477177G>A	uc002aqj.2	+	7	1282	c.984G>A	c.(982-984)CCG>CCA	p.P328P	SMAD3_uc010ujr.1_Silent_p.P223P|SMAD3_uc010ujs.1_Silent_p.P284P|SMAD3_uc010ujt.1_Silent_p.P133P	NM_005902	NP_005893	P84022	SMAD3_HUMAN	mothers against decapentaplegic homolog 3	328	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GCTGGCACCCGGCCACCGTCT	0.597												
LBXCOR1	390598	broad.mit.edu	37	15	68118543	68118543	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:68118543C>T	uc002aqy.1	+	2	350	c.350C>T	c.(349-351)ACG>ATG	p.T117M		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	transcriptional corepressor Corl1	126					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity				0						CTGGGCATCACGTGCGTGCAG	0.642												
MYO9A	4649	broad.mit.edu	37	15	72190884	72190884	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:72190884A>G	uc002atl.3	-	25	4433	c.3960T>C	c.(3958-3960)GGT>GGC	p.G1320G	MYO9A_uc010biq.2_Silent_p.G940G|MYO9A_uc002atn.1_Silent_p.G1301G|MYO9A_uc002atk.2_Silent_p.G44G|MYO9A_uc002atm.1_Silent_p.G44G	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	1320	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						TATCAGGTGTACCCCGTGGAG	0.463												
HEXA	3073	broad.mit.edu	37	15	72637826	72637826	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:72637826G>A	uc002aun.3	-	13	1694	c.1487C>T	c.(1486-1488)GCC>GTC	p.A496V	uc002aug.2_RNA|CELF6_uc002auk.3_RNA|HEXA_uc010ukn.1_Missense_Mutation_p.A507V|HEXA_uc002auo.3_Missense_Mutation_p.A359V|HEXA_uc010bix.2_Missense_Mutation_p.A496V	NM_000520	NP_000511	P06865	HEXA_HUMAN	hexosaminidase A preproprotein	496					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			ovary(3)|upper_aerodigestive_tract(1)	4						ACGTTCATAGGCAAATGTCAG	0.582												
HCN4	10021	broad.mit.edu	37	15	73635953	73635953	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:73635953G>A	uc002avp.2	-	2	1976	c.982C>T	c.(982-984)CTG>TTG	p.L328L		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	328	Cytoplasmic (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		TGCGGGTCCAGGATGATCTCT	0.488												
ISLR2	57611	broad.mit.edu	37	15	74425464	74425464	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:74425464C>T	uc002axd.2	+	4	1138	c.369C>T	c.(367-369)AGC>AGT	p.S123S	ISLR2_uc002axe.2_Silent_p.S123S|ISLR2_uc010bjg.2_Silent_p.S123S|ISLR2_uc010bjf.2_Silent_p.S123S	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	123	LRR 3.|Extracellular (Potential).				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						GCAACCTGAGCGCGCTGCAGC	0.617												
CCDC33	80125	broad.mit.edu	37	15	74626275	74626275	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:74626275C>T	uc002axo.2	+	17	2386	c.1992C>T	c.(1990-1992)CAC>CAT	p.H664H	CCDC33_uc002axp.2_Silent_p.H520H|CCDC33_uc002axq.2_Silent_p.H291H|CCDC33_uc002axr.2_Silent_p.H257H	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	867	Potential.						protein binding			ovary(3)|skin(2)	5						AGCTGGAACACGCTCAGAGCC	0.567												
LMAN1L	79748	broad.mit.edu	37	15	75117834	75117834	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:75117834G>A	uc002ayt.1	+	14	1471	c.1469G>A	c.(1468-1470)AGC>AAC	p.S490N	LMAN1L_uc010bke.1_Missense_Mutation_p.S478N|CPLX3_uc002ayu.1_5'Flank	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like precursor	490	Cytoplasmic (Potential).					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding				0						CTGAACAAGAGCCTTCAGGAG	0.577												
CSPG4	1464	broad.mit.edu	37	15	75968944	75968944	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:75968944C>T	uc002baw.2	-	10	6009	c.5916G>A	c.(5914-5916)CGG>CGA	p.R1972R		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	1972	Extracellular (Potential).|CSPG 14.|Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						CTGGCTCCTCCCGATCTGAAA	0.662												
ADAMTS7	11173	broad.mit.edu	37	15	79083119	79083119	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:79083119C>T	uc002bej.3	-	6	1132	c.921G>A	c.(919-921)ACG>ACA	p.T307T	ADAMTS7_uc010und.1_Silent_p.T307T|ADAMTS7_uc002bek.1_Silent_p.T307T	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	307	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						CTGCATGGTGCGTGATCTTTA	0.562												
AP3B2	8120	broad.mit.edu	37	15	83334219	83334219	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:83334219C>T	uc010uoh.1	-	16	2138	c.1961G>A	c.(1960-1962)CGC>CAC	p.R654H	AP3B2_uc010uoi.1_Missense_Mutation_p.R654H|AP3B2_uc010uoj.1_Missense_Mutation_p.R622H|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Missense_Mutation_p.R290H|AP3B2_uc002biy.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	654	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			CTCCACGTTGCGCACAGATGG	0.458												
AKAP13	11214	broad.mit.edu	37	15	86123335	86123335	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:86123335T>C	uc002blv.1	+	7	2206	c.2036T>C	c.(2035-2037)GTT>GCT	p.V679A	AKAP13_uc002blt.1_Missense_Mutation_p.V679A|AKAP13_uc002blu.1_Missense_Mutation_p.V679A|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	679					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						GGCGATTTGGTTGCAAAACTG	0.483												
KLHL25	64410	broad.mit.edu	37	15	86311780	86311780	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:86311780G>A	uc002bly.2	-	2	1465	c.1262C>T	c.(1261-1263)GCC>GTC	p.A421V		NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN	BTB/POZ KELCH domain protein	421	Kelch 3.					cytoplasm				ovary(2)	2						CCACTTGTTGGCCCCAGGGTC	0.587												
KIF7	374654	broad.mit.edu	37	15	90171797	90171797	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:90171797C>T	uc002bof.2	-	19	3962	c.3885G>A	c.(3883-3885)CAG>CAA	p.Q1295Q	KIF7_uc010upw.1_Silent_p.Q781Q|C15orf42_uc010upv.1_Intron	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1295					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			ovary(2)|lung(1)	3	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCGCCTCCCGCTGCCTCAGTT	0.682												
ASB7	140460	broad.mit.edu	37	15	101152629	101152629	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:101152629G>A	uc002bwk.2	+	4	977	c.208G>A	c.(208-210)GGA>AGA	p.G70R	ASB7_uc002bwj.2_Missense_Mutation_p.G70R	NM_198243	NP_937886	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box-containing protein 7	70	ANK 2.				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)			TCTAGAACACGGAGGTGAGTT	0.398												
AXIN1	8312	broad.mit.edu	37	16	396309	396309	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:396309C>T	uc002cgp.1	-	2	894	c.717G>A	c.(715-717)CCG>CCA	p.P239P	AXIN1_uc002cgq.1_Silent_p.P239P	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	239	Interaction with TP53 (By similarity).				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			breast(1)|liver(1)	2		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CATTTAAGGTCGGCAGGTATC	0.542												
DECR2	26063	broad.mit.edu	37	16	461554	461554	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:461554C>T	uc002chb.2	+	8	961	c.855C>T	c.(853-855)TTC>TTT	p.F285F	DECR2_uc002chc.2_Silent_p.F201F|DECR2_uc010bqv.2_Silent_p.F201F|DECR2_uc002chd.2_Silent_p.F201F|DECR2_uc002che.1_RNA	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2	285						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding				0		Hepatocellular(16;0.00015)				TGCCGGATTTCGCATCCTTCT	0.622												
WFIKKN1	117166	broad.mit.edu	37	16	683373	683373	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:683373G>A	uc002cht.1	+	2	1205	c.963G>A	c.(961-963)CCG>CCA	p.P321P	WFIKKN1_uc002chs.1_3'UTR	NM_053284	NP_444514	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz	321	BPTI/Kunitz inhibitor 1.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity				0		Hepatocellular(780;0.00335)				ACTACGACCCGCAGCGGGGCG	0.726												
BAIAP3	8938	broad.mit.edu	37	16	1394682	1394682	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:1394682C>T	uc002clk.1	+	19	1845	c.1845C>T	c.(1843-1845)TAC>TAT	p.Y615Y	BAIAP3_uc002clj.2_Silent_p.Y597Y|BAIAP3_uc010uuz.1_Silent_p.Y580Y|BAIAP3_uc010uva.1_Silent_p.Y552Y|BAIAP3_uc010uvc.1_Silent_p.Y544Y	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	615					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				ACAGTGTGTACGCCAGCCTCT	0.647												
GNPTG	84572	broad.mit.edu	37	16	1411874	1411874	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:1411874T>C	uc002clm.2	+	5	270	c.235T>C	c.(235-237)TAC>CAC	p.Y79H		NM_032520	NP_115909	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphotransferase, gamma	79	PRKCSH.					extracellular region|Golgi apparatus	protein binding			central_nervous_system(1)	1		Hepatocellular(780;0.0893)				TGTCCCCAGGTACAAGTATGA	0.652												
TBL3	10607	broad.mit.edu	37	16	2024837	2024837	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:2024837C>T	uc002cnu.1	+	6	555	c.453C>T	c.(451-453)CCC>CCT	p.P151P	TBL3_uc002cnv.1_Silent_p.P37P|TBL3_uc010bsb.1_5'UTR|TBL3_uc010bsc.1_Silent_p.P37P|TBL3_uc010uvt.1_5'Flank|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	transducin beta-like 3	151	WD 3.				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity				0						GAGGCTCGCCCGGTGTCGTGC	0.682												
PKD1	5310	broad.mit.edu	37	16	2163281	2163281	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:2163281C>T	uc002cos.1	-	12	3075	c.2866G>A	c.(2866-2868)GTG>ATG	p.V956M	PKD1_uc002cot.1_Missense_Mutation_p.V956M	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	956	Extracellular (Potential).|PKD 4.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						GCCTCCACCACGGGGCTGTAC	0.617												
ABCA3	21	broad.mit.edu	37	16	2347854	2347854	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:2347854C>A	uc002cpy.1	-	16	2677	c.1965G>T	c.(1963-1965)GAG>GAT	p.E655D	ABCA3_uc010bsk.1_Missense_Mutation_p.E597D|ABCA3_uc010bsl.1_Missense_Mutation_p.E655D	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	655	ABC transporter 1.				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)				TCCACTTGTCCTCCAGGCCGA	0.627												
ZNF174	7727	broad.mit.edu	37	16	3458393	3458393	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:3458393C>T	uc002cvc.2	+	3	1513	c.698C>T	c.(697-699)GCA>GTA	p.A233V		NM_003450	NP_003441	Q15697	ZN174_HUMAN	zinc finger protein 174 isoform a	233					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding				0						AAGCCATGTGCAGTGTCAGCT	0.483												
BTBD12	84464	broad.mit.edu	37	16	3640516	3640516	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:3640516C>T	uc002cvp.2	-	12	3750	c.3123G>A	c.(3121-3123)CAG>CAA	p.Q1041Q		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1041	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						GACTCCCGCCCTGGGGAGGCC	0.672								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia			
TRAP1	10131	broad.mit.edu	37	16	3736128	3736128	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:3736128G>A	uc002cvt.3	-	4	429	c.340C>T	c.(340-342)CGG>TGG	p.R114W	TRAP1_uc010uxf.1_Missense_Mutation_p.R61W	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1 precursor	114					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(1)	1		Ovarian(90;0.0261)				ATCAGCTCCCGTATAAACACC	0.478												
ADCY9	115	broad.mit.edu	37	16	4164370	4164370	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:4164370G>A	uc002cvx.2	-	2	1613	c.1074C>T	c.(1072-1074)GTC>GTT	p.V358V		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	358	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						CATGCCTCTTGACAGAATTCT	0.468												
CORO7	79585	broad.mit.edu	37	16	4410338	4410338	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:4410338G>A	uc002cwh.3	-	21	2169	c.2049C>T	c.(2047-2049)CGC>CGT	p.R683R	CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Silent_p.R683R|CORO7_uc002cwg.3_Silent_p.R463R|CORO7_uc010uxh.1_Silent_p.R665R|CORO7_uc010uxi.1_Silent_p.R598R|CORO7_uc002cwi.1_Silent_p.R463R	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	683						cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0						TGCGAGCTCCGCGTCCTCCCT	0.617												
TXNDC11	51061	broad.mit.edu	37	16	11773386	11773386	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:11773386G>T	uc010buu.1	-	13	2685	c.2623C>A	c.(2623-2625)CAG>AAG	p.Q875K	TXNDC11_uc002dbg.1_Missense_Mutation_p.Q848K	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	875	Potential.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0						AGGCTGTGCTGCTCTTCCAGG	0.657												
TMC7	79905	broad.mit.edu	37	16	19051753	19051753	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:19051753G>A	uc002dfq.2	+	9	1452	c.1322G>A	c.(1321-1323)CGT>CAT	p.R441H	TMC7_uc010vao.1_3'UTR|TMC7_uc002dfp.2_Missense_Mutation_p.R441H|TMC7_uc010vap.1_Missense_Mutation_p.R331H	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7 isoform a	441	Cytoplasmic (Potential).					integral to membrane				skin(2)|ovary(1)	3						TTTGAGATCCGTCTGACAATC	0.284												
GPRC5B	51704	broad.mit.edu	37	16	19883732	19883732	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:19883732G>A	uc002dgt.2	-	2	544	c.436C>T	c.(436-438)CGC>TGC	p.R146C	GPRC5B_uc010vav.1_Missense_Mutation_p.R172C	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5,	146	Helical; Name=3; (Potential).									lung(1)|breast(1)|skin(1)	3						CTCCGCACGCGCCATGCCTGG	0.667												
DNAH3	55567	broad.mit.edu	37	16	21170726	21170726	+	Missense_Mutation	SNP	C	C	T	rs150677996	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:21170726C>T	uc010vbe.1	-	1	37	c.37G>A	c.(37-39)GCC>ACC	p.A13T	TMEM159_uc002dif.3_Intron|TMEM159_uc002dig.3_Intron|TMEM159_uc010vbf.1_Intron|TMEM159_uc002dih.3_Intron	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	13	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		TGGGGAGGGGCGGCCAGTGTG	0.632												
ZP2	7783	broad.mit.edu	37	16	21216851	21216851	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:21216851T>G	uc002dii.2	-	7	583	c.583A>C	c.(583-585)AAA>CAA	p.K195Q	ZP2_uc010bwn.1_Missense_Mutation_p.K234Q|ZP2_uc010bwo.2_Missense_Mutation_p.K234Q	NM_003460	NP_003451	Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 preproprotein	195	Extracellular (Potential).				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(48;0.0573)		GTCAGAGTTTTGGCTCTTGCA	0.507												
EEF2K	29904	broad.mit.edu	37	16	22291646	22291646	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:22291646G>A	uc002dki.2	+	17	2502	c.2017G>A	c.(2017-2019)GAG>AAG	p.E673K	EEF2K_uc002dkh.2_RNA	NM_013302	NP_037434	O00418	EF2K_HUMAN	elongation factor-2 kinase	673					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(48;0.0223)		CAGGGAGGCCGAGATGCTGTT	0.637												
USP31	57478	broad.mit.edu	37	16	23091344	23091344	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:23091344C>A	uc002dll.2	-	13	2099	c.2099G>T	c.(2098-2100)AGG>ATG	p.R700M	USP31_uc010bxm.2_Missense_Mutation_p.G5W	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	700					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		CTCAGGGTCCCTCCCGAGTCC	0.582												
COG7	91949	broad.mit.edu	37	16	23444982	23444982	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:23444982G>A	uc002dlo.2	-	6	882	c.694C>T	c.(694-696)CTT>TTT	p.L232F		NM_153603	NP_705831	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	232					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0				GBM - Glioblastoma multiforme(48;0.0401)		GCTGCTAAAAGCTGCACCTGC	0.527												
PALB2	79728	broad.mit.edu	37	16	23637590	23637590	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:23637590C>T	uc002dlx.1	-	7	2915	c.2715G>A	c.(2713-2715)CAG>CAA	p.Q905Q		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	905	Interaction with RAD51 and BRCA2.|WD 1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11				GBM - Glioblastoma multiforme(48;0.0167)		GTTTTTCCCACTGCCAAGCAT	0.458			F|N|Mis			Wilms tumor|medulloblastoma|AML ,breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of			
LCMT1	51451	broad.mit.edu	37	16	25123281	25123281	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:25123281T>C	uc002dnx.1	+	1	235	c.77T>C	c.(76-78)GTG>GCG	p.V26A	LCMT1_uc002dny.1_Missense_Mutation_p.V26A|LCMT1_uc002dnz.1_5'UTR|LCMT1_uc002doa.1_5'UTR|LCMT1_uc002dnw.1_RNA	NM_016309	NP_057393	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1 isoform a	26							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity				0				GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	GACGAGGGCGTGCGCGGCACC	0.687												
GTF3C1	2975	broad.mit.edu	37	16	27556722	27556722	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:27556722C>T	uc002dov.1	-	2	384	c.344G>A	c.(343-345)CGC>CAC	p.R115H	GTF3C1_uc002dou.2_Missense_Mutation_p.R115H	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	115						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CTTAAAGTAGCGGCATGAGCC	0.468												
CD19	930	broad.mit.edu	37	16	28946835	28946835	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:28946835C>T	uc002drs.2	+	5	968	c.906C>T	c.(904-906)TTC>TTT	p.F302F	uc010vct.1_Intron|CD19_uc010byo.1_Silent_p.F302F	NM_001770	NP_001761	P15391	CD19_HUMAN	CD19 antigen precursor	302	Helical; (Potential).				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			ovary(2)|central_nervous_system(1)	3						ATCTGATCTTCTGCCTGTGTT	0.542												
C16orf93	90835	broad.mit.edu	37	16	30768963	30768963	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:30768963A>G	uc002dzm.2	-	9	1161	c.830T>C	c.(829-831)GTC>GCC	p.V277A	C16orf93_uc002dzn.2_Missense_Mutation_p.V342A|C16orf93_uc002dzo.2_Missense_Mutation_p.V240A	NM_001014979	NP_001014979	A1A4V9	CP093_HUMAN	hypothetical protein LOC90835	277											0						GGCTCGGAGGACGTGGATGTG	0.617												
RNF40	9810	broad.mit.edu	37	16	30780556	30780556	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:30780556A>G	uc002dzq.2	+	16	2420	c.2297A>G	c.(2296-2298)GAG>GGG	p.E766G	RNF40_uc010caa.2_Missense_Mutation_p.E766G|RNF40_uc010cab.2_Missense_Mutation_p.E666G|RNF40_uc010vfa.1_Missense_Mutation_p.E98G|RNF40_uc002dzr.2_Missense_Mutation_p.E766G|RNF40_uc010vfb.1_Missense_Mutation_p.E458G|RNF40_uc010vfc.1_Missense_Mutation_p.E98G	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	766	Potential.				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)	1			Colorectal(24;0.198)			CAGGCTTTTGAGGACATGCAG	0.537												
SETD1A	9739	broad.mit.edu	37	16	30990956	30990956	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:30990956G>A	uc002ead.1	+	14	4535	c.3849G>A	c.(3847-3849)TCG>TCA	p.S1283S		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	1283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						CAGAGACATCGGACGAGGCCG	0.711												
HSD3B7	80270	broad.mit.edu	37	16	30999231	30999231	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:30999231C>T	uc002eaf.2	+	7	943	c.837C>T	c.(835-837)TGC>TGT	p.C279C	HSD3B7_uc010cac.2_3'UTR|HSD3B7_uc002eag.2_3'UTR|HSD3B7_uc002eah.2_Silent_p.C279C	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta-	279					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity				0						TGGGCCCCTGCGGACTGCGGC	0.642												
ZNF668	79759	broad.mit.edu	37	16	31073185	31073185	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:31073185G>A	uc010caf.2	-	3	1421	c.1064C>T	c.(1063-1065)GCG>GTG	p.A355V	ZNF668_uc002eao.2_Missense_Mutation_p.A355V	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	355	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4						GTGCACCAGCGCGTGCCGCTT	0.682												
ITGAM	3684	broad.mit.edu	37	16	31336659	31336659	+	Silent	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:31336659C>A	uc002ebq.2	+	20	2537	c.2439C>A	c.(2437-2439)TCC>TCA	p.S813S	ITGAM_uc002ebr.2_Silent_p.S814S|ITGAM_uc010can.2_Silent_p.S219S|ITGAM_uc002ebs.1_Silent_p.S219S|ITGAM_uc010vfj.1_RNA	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	813	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						GTGAGGACTCCTACAGGACAC	0.577												
ITGAD	3681	broad.mit.edu	37	16	31422507	31422507	+	Silent	SNP	C	C	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:31422507C>G	uc002ebv.1	+	13	1516	c.1467C>G	c.(1465-1467)GGC>GGG	p.G489G	ITGAD_uc010cap.1_Silent_p.G489G	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	489	Extracellular (Potential).|FG-GAP 5.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						CCCGAGGGGGCCAGGTGTCCG	0.642												
ZNF267	10308	broad.mit.edu	37	16	31926819	31926819	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:31926819T>C	uc002ecs.3	+	4	1458	c.1249T>C	c.(1249-1251)TTT>CTT	p.F417L		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	417	C2H2-type 4.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4						TGGCAAAGCCTTTCGCTGTAG	0.363												
NOD2	64127	broad.mit.edu	37	16	50744556	50744556	+	Missense_Mutation	SNP	C	C	T	rs148516118	by1000genomes	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:50744556C>T	uc002egm.1	+	4	839	c.734C>T	c.(733-735)ACG>ATG	p.T245M	NOD2_uc010cbk.1_Missense_Mutation_p.T218M|NOD2_uc002egl.1_Missense_Mutation_p.T23M|NOD2_uc010cbl.1_Missense_Mutation_p.T23M|NOD2_uc010cbm.1_Missense_Mutation_p.T23M|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	245					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)|skin(1)	4		all_cancers(37;0.0156)				GGAGCAGAGACGCTCTGCCTG	0.582												
CES7	221223	broad.mit.edu	37	16	55893467	55893467	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:55893467G>A	uc002eip.2	-	8	1197	c.1048C>T	c.(1048-1050)CTG>TTG	p.L350L	CES7_uc002eio.2_Silent_p.L350L|CES7_uc002eiq.2_Silent_p.L111L|CES7_uc002eir.2_Silent_p.L244L	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	350						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)		ACCATAGGCAGCAGGAAGCCA	0.463												
GPR56	9289	broad.mit.edu	37	16	57689865	57689865	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:57689865G>A	uc002emb.2	+	8	1270	c.978G>A	c.(976-978)ACG>ACA	p.T326T	GPR56_uc002elz.1_Silent_p.T156T|GPR56_uc002ema.1_Silent_p.T151T|GPR56_uc002emc.2_Silent_p.T326T|GPR56_uc002emf.2_Silent_p.T326T|GPR56_uc010vhs.1_Silent_p.T326T|GPR56_uc002emd.2_Silent_p.T326T|GPR56_uc002eme.2_Silent_p.T326T|GPR56_uc010vht.1_Silent_p.T331T|GPR56_uc002emg.3_Silent_p.T326T|GPR56_uc010vhu.1_Silent_p.T151T	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56 isoform a	326	Extracellular (Potential).				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0						CCAACCTCACGGAGCCCGTGG	0.567												
CCDC135	84229	broad.mit.edu	37	16	57731887	57731887	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:57731887A>T	uc002emi.2	+	2	115	c.26A>T	c.(25-27)GAG>GTG	p.E9V	CCDC135_uc002emj.2_Missense_Mutation_p.E9V|CCDC135_uc002emk.2_Missense_Mutation_p.E9V	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	9	Potential.					cytoplasm				central_nervous_system(1)	1						gagaaggtggaggaggaggag	0.448												
ZNF319	57567	broad.mit.edu	37	16	58031166	58031166	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:58031166C>T	uc002emx.1	-	2	1627	c.1004G>A	c.(1003-1005)CGC>CAC	p.R335H		NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	335	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCTGTGTGTGCGCTCATGCTG	0.682												
ZNF319	57567	broad.mit.edu	37	16	58031252	58031252	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:58031252C>T	uc002emx.1	-	2	1541	c.918G>A	c.(916-918)CCG>CCA	p.P306P		NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	306	C2H2-type 7; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTGGCGTGCACGGGTGCTGCA	0.672												
DYNC1LI2	1783	broad.mit.edu	37	16	66776563	66776563	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:66776563G>A	uc002eqb.1	-	4	338	c.307C>T	c.(307-309)CGC>TGC	p.R103C	DYNC1LI2_uc010vis.1_Intron|DYNC1LI2_uc010vit.1_Missense_Mutation_p.R103C|DYNC1LI2_uc010viu.1_Missense_Mutation_p.R64C	NM_006141	NP_006132	O43237	DC1L2_HUMAN	dynein, cytoplasmic, light intermediate	103					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|skin(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		ACGTTGCAGCGCGTGTGATCT	0.468												
CES2	8824	broad.mit.edu	37	16	66974560	66974560	+	Missense_Mutation	SNP	C	C	T	rs147942040		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:66974560C>T	uc002eqr.2	+	5	1970	c.970C>T	c.(970-972)CCC>TCC	p.P324S	CES2_uc002eqq.2_Missense_Mutation_p.P324S|CES2_uc002eqs.2_Missense_Mutation_p.P167S	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	260					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		GGCCCTCCTGCCCGGCCTCAT	0.617												
CES8	283848	broad.mit.edu	37	16	67037211	67037211	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:67037211A>T	uc002eqv.2	+	7	891	c.848A>T	c.(847-849)AAC>ATC	p.N283I	CES8_uc010vix.1_Missense_Mutation_p.N283I|CES8_uc002eqw.2_Missense_Mutation_p.N283I|CES8_uc002eqy.2_Missense_Mutation_p.N185I|CES8_uc002eqx.2_Missense_Mutation_p.N89I|CES8_uc010viy.1_Missense_Mutation_p.N189I|CES8_uc010viz.1_Missense_Mutation_p.N185I|CES8_uc002eqz.2_5'Flank	NM_173815	NP_776176	Q5XG92	EST4A_HUMAN	carboxylesterase 8 (putative)	283						extracellular region	carboxylesterase activity				0						ATCCTGGTAAACTGCCTGAGG	0.547												
PLEKHG4	25894	broad.mit.edu	37	16	67320703	67320703	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:67320703C>T	uc002eso.3	+	16	5341	c.2806C>T	c.(2806-2808)CGC>TGC	p.R936C	PLEKHG4_uc002esp.3_Missense_Mutation_p.R743C|PLEKHG4_uc002esq.3_Missense_Mutation_p.R936C|PLEKHG4_uc010cef.2_Missense_Mutation_p.R936C|PLEKHG4_uc002ess.3_Missense_Mutation_p.R936C|PLEKHG4_uc010ceg.2_Missense_Mutation_p.R855C	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G	936	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GTTTGTGGTGCGCACTGGGCG	0.597												
ATP6V0D1	9114	broad.mit.edu	37	16	67487596	67487596	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:67487596G>A	uc002ete.1	-	2	253	c.153C>T	c.(151-153)AGC>AGT	p.S51S	ATP6V0D1_uc010vjo.1_Silent_p.S51S|ATP6V0D1_uc010vjn.1_5'UTR	NM_004691	NP_004682	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit	51					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CATAATCAGTGCTCTGCAGAT	0.572												
DDX28	55794	broad.mit.edu	37	16	68056553	68056553	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:68056553G>A	uc002evh.1	-	1	1407	c.553C>T	c.(553-555)CCG>TCG	p.P185S	DUS2L_uc002evi.2_5'Flank|DUS2L_uc002evj.2_5'Flank|DUS2L_uc010vkk.1_5'Flank	NM_018380	NP_060850	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	185	Helicase ATP-binding.|Nuclear export signal (Potential).					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		TGAAGCAGCGGCAGGAGGTAG	0.627												
DUS2L	54920	broad.mit.edu	37	16	68104958	68104958	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:68104958C>T	uc002evi.2	+	12	906	c.757C>T	c.(757-759)CTC>TTC	p.L253F	DUS2L_uc002evj.2_Missense_Mutation_p.L253F|DUS2L_uc010vkk.1_Missense_Mutation_p.L218F|DUS2L_uc010cez.2_Missense_Mutation_p.L166F	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2-like, SMM1 homolog	253					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		ATCTATCTTCCTCAAGGAGGG	0.512												
SLC7A6	9057	broad.mit.edu	37	16	68321694	68321694	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:68321694G>A	uc002evt.1	+	5	878	c.569G>A	c.(568-570)CGT>CAT	p.R190H	SLC7A6_uc010cfb.1_RNA|SLC7A6_uc002evu.1_Missense_Mutation_p.R190H|SLC7A6_uc002evv.1_RNA|SLC7A6_uc010cfc.1_Intron	NM_001076785	NP_001070253	Q92536	YLAT2_HUMAN	solute carrier family 7 (cationic amino acid	190	Cytoplasmic (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|antiporter activity			central_nervous_system(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		TGGGGCACACGTGTGCAGGAC	0.552												
AARS	16	broad.mit.edu	37	16	70303552	70303552	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:70303552C>T	uc002eyn.1	-	7	1041	c.931G>A	c.(931-933)GAT>AAT	p.D311N	AARS_uc010vlu.1_Missense_Mutation_p.D141N	NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	311					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	CGGCCACCATCAGCCAGTGCC	0.572												
DDX19B	11269	broad.mit.edu	37	16	70363861	70363861	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:70363861G>A	uc002eyo.2	+	9	1042	c.913G>A	c.(913-915)GAC>AAC	p.D305N	DDX19B_uc010vly.1_Missense_Mutation_p.D305N|DDX19A_uc002eys.2_Intron|DDX19B_uc010vlv.1_Missense_Mutation_p.D279N|DDX19B_uc010vlw.1_Missense_Mutation_p.D196N|DDX19B_uc002eyp.2_Missense_Mutation_p.D274N|DDX19B_uc002eyq.2_Missense_Mutation_p.D196N|DDX19B_uc002eyr.2_Missense_Mutation_p.D154N|DDX19B_uc010vlx.1_Missense_Mutation_p.D154N|uc002eyt.2_Intron	NM_007242	NP_009173	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-As) box polypeptide 19 isoform	305					mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			kidney(1)	1		Ovarian(137;0.0694)				AGAGACCCTGGACACCATCAA	0.517												
IL34	146433	broad.mit.edu	37	16	70693979	70693979	+	Missense_Mutation	SNP	G	G	C	rs145782768		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:70693979G>C	uc002ezh.1	+	6	1001	c.618G>C	c.(616-618)CAG>CAC	p.Q206H	IL34_uc002ezi.1_Missense_Mutation_p.Q205H	NM_152456	NP_689669	Q6ZMJ4	IL34_HUMAN	interleukin 34 precursor	206					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding			central_nervous_system(1)|skin(1)	2						CCTCATTGCAGTATGCGGCCA	0.637												
FTSJD1	55783	broad.mit.edu	37	16	71317774	71317774	+	Missense_Mutation	SNP	C	C	T	rs148258352	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:71317774C>T	uc010cga.2	-	3	2456	c.2050G>A	c.(2050-2052)GCA>ACA	p.A684T	FTSJD1_uc002ezy.3_Missense_Mutation_p.A684T|FTSJD1_uc002ezz.3_Missense_Mutation_p.A684T	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN	FtsJ methyltransferase domain containing 1	684						integral to membrane	methyltransferase activity|nucleic acid binding			skin(1)	1						AGCAGGACTGCGCAGGTCCTC	0.433												
ZNF821	55565	broad.mit.edu	37	16	71894461	71894461	+	Silent	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:71894461T>C	uc010vmj.1	-	7	1075	c.699A>G	c.(697-699)GGA>GGG	p.G233G	ATXN1L_uc010vmi.1_Intron|ZNF821_uc002fbe.2_Silent_p.G83G|ZNF821_uc002fbf.2_Silent_p.G191G|ZNF821_uc002fbg.3_Silent_p.G83G|ZNF821_uc002fbh.3_Silent_p.G191G|ZNF821_uc002fbi.3_Silent_p.G30G	NM_017530	NP_060000	O75541	ZN821_HUMAN	zinc finger protein 821	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CAAGCAGAATTCCAGCAGGGT	0.517												
ZFHX3	463	broad.mit.edu	37	16	72822157	72822157	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:72822157C>A	uc002fck.2	-	10	10691	c.10018G>T	c.(10018-10020)GGC>TGC	p.G3340C	ZFHX3_uc002fcl.2_Missense_Mutation_p.G2426C	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3340					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)				GGGAACAGGCCTTCCATGCCA	0.582												
ZFHX3	463	broad.mit.edu	37	16	72828501	72828501	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:72828501C>T	uc002fck.2	-	9	8753	c.8080G>A	c.(8080-8082)GCT>ACT	p.A2694T	ZFHX3_uc002fcl.2_Missense_Mutation_p.A1780T	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	2694	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)				CTTTCCCGAGCTCGGGTGTTC	0.532												
WWOX	51741	broad.mit.edu	37	16	78466573	78466573	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:78466573T>C	uc002ffk.2	+	8	1105	c.980T>C	c.(979-981)ATG>ACG	p.M327T	WWOX_uc010vnk.1_Missense_Mutation_p.M214T|WWOX_uc002ffl.2_Intron|WWOX_uc010che.2_Intron	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	WW domain-containing oxidoreductase isoform 1	327	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity				0		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		GGAAATATGATGTACTCCAAC	0.557												
HSDL1	83693	broad.mit.edu	37	16	84163662	84163662	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:84163662C>T	uc002fhk.2	-	4	779	c.595G>A	c.(595-597)GCC>ACC	p.A199T	HSDL1_uc010vnv.1_Missense_Mutation_p.A144T	NM_031463	NP_113651	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1 isoform a	199						mitochondrion	oxidoreductase activity|protein binding				0						GTGACGATGGCACCTTTCTTT	0.488												
USP10	9100	broad.mit.edu	37	16	84806187	84806187	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:84806187C>A	uc002fii.2	+	12	2181	c.2039C>A	c.(2038-2040)CCT>CAT	p.P680H	USP10_uc010voe.1_Missense_Mutation_p.P684H|USP10_uc010vof.1_Missense_Mutation_p.P242H|USP10_uc002fij.2_Missense_Mutation_p.P206H	NM_005153	NP_005144	Q14694	UBP10_HUMAN	ubiquitin specific protease 10	680					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0						AAACTCCCTCCTGTCCTCGTG	0.453												
KIAA0182	23199	broad.mit.edu	37	16	85701834	85701834	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:85701834C>T	uc002fix.2	+	14	3293	c.3219C>T	c.(3217-3219)CGC>CGT	p.R1073R	KIAA0182_uc002fiw.2_Silent_p.R969R|KIAA0182_uc002fiy.2_Silent_p.R1000R|KIAA0182_uc002fiz.2_Silent_p.R215R|KIAA0182_uc010cho.2_Silent_p.R253R	NM_014615	NP_055430	Q14687	GSE1_HUMAN	genetic suppressor element 1 isoform 1	1073							protein binding			large_intestine(3)|ovary(1)|skin(1)	5						CCTCCAGCCGCGCCCCTCCAC	0.592												
ZFPM1	161882	broad.mit.edu	37	16	88599110	88599110	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:88599110G>A	uc002fkv.2	+	8	1068	c.1035G>A	c.(1033-1035)ACG>ACA	p.T345T		NM_153813	NP_722520	Q8IX07	FOG1_HUMAN	zinc finger protein, multitype 1	345					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0478)		ACACGGACACGCTGAGCGGTA	0.692												
CBFA2T3	863	broad.mit.edu	37	16	88952449	88952449	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:88952449G>A	uc002fmm.1	-	6	999	c.813C>T	c.(811-813)GAC>GAT	p.D271D	CBFA2T3_uc002fml.1_Silent_p.D185D|CBFA2T3_uc010cif.1_Silent_p.D210D|CBFA2T3_uc002fmn.1_Silent_p.D246D	NM_005187	NP_005178	O75081	MTG16_HUMAN	myeloid translocation gene on chromosome 16	271	Mediates localization to the nucleus (By similarity).|Mediates interaction with PDE7A (in isoform 2).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0275)		AGGCGCTGGCGTCCAGCAGGA	0.657			T	RUNX1	AML							
ANKRD11	29123	broad.mit.edu	37	16	89349001	89349001	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:89349001G>A	uc002fmx.1	-	9	4410	c.3949C>T	c.(3949-3951)CTG>TTG	p.L1317L	ANKRD11_uc002fmy.1_Silent_p.L1317L|ANKRD11_uc002fnc.1_Silent_p.L1317L|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.L1274L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1317	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AAGGCAGTCAGCCCCGGCTCC	0.582												
ANKRD11	29123	broad.mit.edu	37	16	89352509	89352509	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:89352509G>A	uc002fmx.1	-	8	1291	c.830C>T	c.(829-831)CCC>CTC	p.P277L	ANKRD11_uc002fmy.1_Missense_Mutation_p.P277L|ANKRD11_uc002fnc.1_Missense_Mutation_p.P277L|ANKRD11_uc002fnb.1_Missense_Mutation_p.P234L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	277	ANK 4.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CACCATCGTGGGGGAGTTGGC	0.577												
SPATA2L	124044	broad.mit.edu	37	16	89763857	89763857	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:89763857G>A	uc002foj.2	-	3	1225	c.1160C>T	c.(1159-1161)GCC>GTC	p.A387V	SPATA2L_uc002fok.2_Intron	NM_152339	NP_689552	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	387											0		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		TGGACGGCAGGCGGGCAGGGC	0.687												
C16orf7	9605	broad.mit.edu	37	16	89777784	89777784	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:89777784T>C	uc002fom.1	-	9	909	c.784A>G	c.(784-786)AAT>GAT	p.N262D	C16orf7_uc002fol.1_Missense_Mutation_p.N192D|uc002fon.1_5'Flank	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	262					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		TCCCCCGGATTCCTCTTGAGC	0.662												
TCF25	22980	broad.mit.edu	37	16	89970558	89970558	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:89970558C>T	uc002fpb.2	+	13	1496	c.1414C>T	c.(1414-1416)CGG>TGG	p.R472W	TCF25_uc002fpc.2_Missense_Mutation_p.R237W|TCF25_uc002fpd.1_5'UTR	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	NULP1	472					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TTGCAGTGTGCGGCCCGACGC	0.517												
TUBB3	10381	broad.mit.edu	37	16	90001975	90001975	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:90001975G>A	uc002fph.1	+	4	1181	c.1116G>A	c.(1114-1116)ACG>ACA	p.T372T	TUBB3_uc002fpf.2_Silent_p.T719T|TUBB3_uc010ciz.1_Silent_p.T300T|TUBB3_uc002fpg.1_Silent_p.T226T|TUBB3_uc002fpi.1_Silent_p.T300T|TUBB3_uc002fpj.1_Silent_p.T300T|TUBB3_uc010cjb.1_Silent_p.T226T|TUBB3_uc002fpk.1_Silent_p.T226T	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	372					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GGAACAGCACGGCCATCCAGG	0.622												
SLC43A2	124935	broad.mit.edu	37	17	1520045	1520045	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:1520045G>A	uc002fsv.2	-	3	268	c.179C>T	c.(178-180)ACA>ATA	p.T60I	SLC43A2_uc002fsu.2_Missense_Mutation_p.T60I|SLC43A2_uc002fsw.2_Missense_Mutation_p.T60I|SLC43A2_uc002fsx.2_Missense_Mutation_p.T60I	NM_152346	NP_689559	Q8N370	LAT4_HUMAN	solute carrier family 43, member 2	60					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GCCGCCCACTGTGCCATTGGT	0.577												
PRPF8	10594	broad.mit.edu	37	17	1584919	1584919	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:1584919C>T	uc002fte.2	-	6	833	c.719G>A	c.(718-720)CGC>CAC	p.R240H		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	240						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATTAGCCAGGCGGTAGAGAGT	0.468												
SMG6	23293	broad.mit.edu	37	17	2203910	2203910	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:2203910C>T	uc002fub.1	-	2	192	c.137G>A	c.(136-138)CGT>CAT	p.R46H	SMG6_uc002fud.1_Missense_Mutation_p.R15H	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	46					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			central_nervous_system(2)|lung(1)|kidney(1)	4						CAGATCTGGACGCCTGTTATC	0.448												
TRPV3	162514	broad.mit.edu	37	17	3436182	3436182	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:3436182C>T	uc002fvt.1	-	8	1156	c.834G>A	c.(832-834)GTG>GTA	p.V278V	TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Silent_p.V262V|TRPV3_uc010vri.1_Silent_p.V233V|TRPV3_uc010vrj.1_Silent_p.V262V|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Silent_p.V262V|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Silent_p.V278V|TRPV3_uc002fvu.2_Silent_p.V278V|TRPV3_uc010vrn.1_5'Flank	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel,	278	ANK 2.|Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)	TCAGCAGCTGCACAATCTCGG	0.627												
ZZEF1	23140	broad.mit.edu	37	17	4020386	4020386	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:4020386G>A	uc002fxe.2	-	3	638	c.574C>T	c.(574-576)CGC>TGC	p.R192C	ZZEF1_uc002fxk.1_Missense_Mutation_p.R192C	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	192							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						AGCCGATTGCGGTGCAGGAAG	0.502												
SPAG7	9552	broad.mit.edu	37	17	4862892	4862892	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:4862892C>T	uc002gae.2	-	7	654	c.621G>A	c.(619-621)ATG>ATA	p.M207I	SPAG7_uc002gad.2_Missense_Mutation_p.M156I|SPAG7_uc002gaf.2_3'UTR	NM_004890	NP_004881	O75391	SPAG7_HUMAN	sperm associated antigen 7	207						nucleus	nucleic acid binding|protein binding			ovary(1)|central_nervous_system(1)	2						TGATCTCATTCATAGCCTCTT	0.622												
ZFP3	124961	broad.mit.edu	37	17	4995874	4995874	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:4995874C>T	uc002gaq.2	+	2	1200	c.1075C>T	c.(1075-1077)CAT>TAT	p.H359Y		NM_153018	NP_694563	Q96NJ6	ZFP3_HUMAN	zinc finger protein-3	359	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TATTAGAATTCATACTGGTGA	0.423												
USP6	9098	broad.mit.edu	37	17	5050419	5050419	+	Silent	SNP	C	C	T	rs147105926	by1000genomes	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:5050419C>T	uc002gau.1	+	29	4591	c.2361C>T	c.(2359-2361)AGC>AGT	p.S787S	USP6_uc002gav.1_Silent_p.S787S|USP6_uc010ckz.1_Silent_p.S470S	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	787					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						TCTCAGTGAGCGGATTTTTGT	0.393			T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts							
PHF23	79142	broad.mit.edu	37	17	7139893	7139893	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:7139893C>T	uc002gfa.2	-	4	580	c.353G>A	c.(352-354)CGT>CAT	p.R118H	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.1_Intron|PHF23_uc010cma.2_5'UTR	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	118							zinc ion binding				0						GGCCTGCAGACGAGAGAAAGT	0.542												
PHF23	79142	broad.mit.edu	37	17	7140733	7140733	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:7140733A>G	uc002gfa.2	-	3	357	c.130T>C	c.(130-132)TAT>CAT	p.Y44H	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.1_Missense_Mutation_p.Y44H|PHF23_uc010cma.2_5'UTR	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	44							zinc ion binding				0						TAACCAGCATATGCCAAAACA	0.453												
TNK1	8711	broad.mit.edu	37	17	7291907	7291907	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:7291907T>C	uc002ggi.3	+	11	1835	c.1675T>C	c.(1675-1677)TGG>CGG	p.W559R	TNK1_uc002ggj.3_Missense_Mutation_p.W554R|TNK1_uc010cmf.2_RNA|TNK1_uc002ggk.3_Intron	NM_003985	NP_003976	Q13470	TNK1_HUMAN	tyrosine kinase, non-receptor, 1	559	Pro-rich.				protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			lung(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(122;0.157)				GAGGCTTCCCTGGCCCAAAAG	0.622												
SENP3	26168	broad.mit.edu	37	17	7466947	7466947	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:7466947G>A	uc002ghm.2	+	2	827	c.554G>A	c.(553-555)CGT>CAT	p.R185H	EIF4A1_uc002gho.1_5'Flank|SENP3_uc002ghn.1_5'Flank	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific protease 3	185					proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			ovary(1)|central_nervous_system(1)	2		Prostate(122;0.157)				CCCTGTTGTCGTTTTGACTCC	0.562												
DNAH2	146754	broad.mit.edu	37	17	7644225	7644225	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:7644225C>A	uc002giu.1	+	10	1618	c.1604C>A	c.(1603-1605)CCA>CAA	p.P535Q	DNAH2_uc002git.2_Missense_Mutation_p.P617Q|DNAH2_uc010vuk.1_Missense_Mutation_p.P535Q	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	535	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AAGAAATGGCCAGACCTGGAG	0.572												
SLC25A35	399512	broad.mit.edu	37	17	8194159	8194159	+	Splice_Site	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:8194159C>T	uc002gla.3	-	4	774	c.729_splice	c.e4+1	p.K243_splice	SLC25A35_uc002gku.1_Splice_Site_p.K243_splice|SLC25A35_uc002gkt.2_Splice_Site_p.K243_splice|SLC25A35_uc002gkz.1_Splice_Site	NM_201520	NP_958928	Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35						transport	integral to membrane|mitochondrial inner membrane					0						CACTTCCTTACCTTGCCCTGT	0.587												
MYH10	4628	broad.mit.edu	37	17	8417117	8417117	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:8417117C>T	uc002gll.2	-	20	2603	c.2507G>A	c.(2506-2508)CGA>CAA	p.R836Q	MYH10_uc002glm.2_Missense_Mutation_p.R867Q|MYH10_uc010cnx.2_Missense_Mutation_p.R845Q	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	836					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						TGTGAAGACTCGCCACCACTG	0.488												
PIK3R6	146850	broad.mit.edu	37	17	8731436	8731436	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:8731436G>A	uc002glq.1	-	12	1625	c.1385C>T	c.(1384-1386)GCG>GTG	p.A462V	PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	462					platelet activation	cytosol					0						CACCTCAGGCGCCAGCACGGG	0.587												
MYH13	8735	broad.mit.edu	37	17	10248525	10248525	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:10248525G>A	uc002gmk.1	-	15	1668	c.1578C>T	c.(1576-1578)ATC>ATT	p.I526I	MYH13_uc010vvf.1_Silent_p.I201I	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	526	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						CTACCTTCTCGATGAGCTCGA	0.542												
C17orf48	56985	broad.mit.edu	37	17	10608264	10608264	+	Silent	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:10608264T>C	uc002gmt.2	+	2	96	c.21T>C	c.(19-21)CCT>CCC	p.P7P	C17orf48_uc002gmu.2_RNA|C17orf48_uc002gmv.2_RNA|C17orf48_uc010vvg.1_Silent_p.P7P	NM_020233	NP_064618	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol pyrophosphatase	7							ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding				0						AACCCAATCCTGAAGCCCTAA	0.363												
DNAH9	1770	broad.mit.edu	37	17	11775045	11775045	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:11775045A>G	uc002gne.2	+	52	10252	c.10184A>G	c.(10183-10185)AAG>AGG	p.K3395R	DNAH9_uc010coo.2_Missense_Mutation_p.K2689R	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3395					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)		TTCTTCACAAAGAAATACCGG	0.408												
MYOCD	93649	broad.mit.edu	37	17	12639605	12639605	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:12639605C>T	uc002gnn.2	+	6	842	c.543C>T	c.(541-543)GAC>GAT	p.D181D	MYOCD_uc002gno.2_Silent_p.D181D|MYOCD_uc002gnp.1_Silent_p.D85D	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	181	HDAC5-binding (By similarity).				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)		CCCCGCCAGACGCTAAAGCCT	0.488												
NCOR1	9611	broad.mit.edu	37	17	15935741	15935741	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:15935741G>A	uc002gpo.2	-	46	7432	c.7192C>T	c.(7192-7194)CCA>TCA	p.P2398S	NCOR1_uc002gpn.2_Missense_Mutation_p.P2295S|NCOR1_uc002gpl.2_Missense_Mutation_p.P412S|NCOR1_uc002gpm.2_Missense_Mutation_p.P917S|NCOR1_uc010vwb.1_Missense_Mutation_p.P982S|NCOR1_uc010coy.2_Missense_Mutation_p.P1306S	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	2398	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATCGGTGTTGGTGGAGTACTG	0.498												
TRPV2	51393	broad.mit.edu	37	17	16325986	16325986	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:16325986G>A	uc002gpy.2	+	4	775	c.408G>A	c.(406-408)CTG>CTA	p.L136L	TRPV2_uc002gpz.2_5'UTR	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	136	Cytoplasmic (Potential).|Required for interaction with SLC50A1 (By similarity).|ANK 2.				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCTGCATTCTGCCACTGCTGC	0.577												
RAI1	10743	broad.mit.edu	37	17	17698291	17698291	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:17698291G>T	uc002grm.2	+	3	2498	c.2029G>T	c.(2029-2031)GGC>TGC	p.G677C	RAI1_uc002grn.1_Missense_Mutation_p.G677C	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	677						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GGACAAGGGCGGCAATGCCAA	0.637												
FBXW10	10517	broad.mit.edu	37	17	18647574	18647574	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:18647574C>T	uc002guk.2	+	1	249	c.17C>T	c.(16-18)TCA>TTA	p.S6L	FBXW10_uc002guj.2_Missense_Mutation_p.S6L|FBXW10_uc002gul.2_Missense_Mutation_p.S6L|FBXW10_uc010cqh.1_Missense_Mutation_p.S6L	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	F-box and WD-40 domain protein 10	6										ovary(1)	1						AACCTGGAATCAAGGCTCAAG	0.498												
KIAA0100	9703	broad.mit.edu	37	17	26960768	26960768	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:26960768C>T	uc002hbu.2	-	18	3363	c.3264G>A	c.(3262-3264)TCG>TCA	p.S1088S		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1088						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					GGAATATTTCCGCTGGGGTAG	0.532												
SUPT6H	6830	broad.mit.edu	37	17	27013675	27013675	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:27013675C>T	uc002hby.2	+	21	2658	c.2568C>T	c.(2566-2568)GAC>GAT	p.D856D	SUPT6H_uc010crt.2_Silent_p.D856D|SUPT6H_uc002hbz.1_5'Flank	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	856					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					CCACCAGGGACGCCCAGATGT	0.512												
C17orf63	55731	broad.mit.edu	37	17	27086113	27086113	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:27086113A>T	uc002hct.1	-	3	1131	c.864T>A	c.(862-864)TGT>TGA	p.C288*	C17orf63_uc010wax.1_Nonsense_Mutation_p.C288*|C17orf63_uc010way.1_Nonsense_Mutation_p.C288*|C17orf63_uc002hcw.2_Nonsense_Mutation_p.C160*	NM_018182	NP_060652	Q8WU58	CQ063_HUMAN	hypothetical protein LOC55731	288										ovary(1)	1	all_epithelial(6;5.06e-20)|Lung NSC(42;0.01)		Epithelial(11;3.38e-06)|all cancers(11;2.46e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.104)			TCTGGCCCTCACACACTGAGG	0.597												
SUZ12	23512	broad.mit.edu	37	17	30310094	30310094	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:30310094G>A	uc002hgs.2	+	9	1216	c.994G>A	c.(994-996)GCA>ACA	p.A332T	SUZ12_uc002hgt.2_Missense_Mutation_p.A309T	NM_015355	NP_056170	Q15022	SUZ12_HUMAN	joined to JAZF1	332					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		JAZF1/SUZ12(131)	soft_tissue(98)|endometrium(33)	131		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CAAGAAAAGAGCAACATGGGA	0.398			T	JAZF1	endometrial stromal tumours							
RHBDL3	162494	broad.mit.edu	37	17	30616026	30616026	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:30616026G>A	uc002hhe.1	+	4	524	c.510G>A	c.(508-510)ACG>ACA	p.T170T	RHBDL3_uc010csw.1_Silent_p.T162T|RHBDL3_uc010csx.1_Silent_p.T170T|RHBDL3_uc010csy.1_Silent_p.T72T|RHBDL3_uc002hhf.1_Silent_p.T72T	NM_138328	NP_612201	P58872	RHBL3_HUMAN	rhomboid protease 3	170	Helical; (Potential).				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)				TCACAGTCACGCTGCTGGAGG	0.607												
CCL13	6357	broad.mit.edu	37	17	32684573	32684573	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:32684573G>A	uc002hic.2	+	2	231	c.156G>A	c.(154-156)GTG>GTA	p.V52V		NM_005408	NP_005399	Q99616	CCL13_HUMAN	small inducible cytokine A13 precursor	52					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity				0		Ovarian(249;0.0443)|Breast(31;0.151)				AGAGCTATGTGATCACCACCA	0.483												
TMEM132E	124842	broad.mit.edu	37	17	32963111	32963111	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:32963111C>T	uc002hif.2	+	9	2121	c.1793C>T	c.(1792-1794)GCC>GTC	p.A598V		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	598	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		CAGCTTCAGGCCCAGGTGGTG	0.662												
SLFN5	162394	broad.mit.edu	37	17	33585942	33585942	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:33585942T>C	uc002hjf.3	+	2	350	c.233T>C	c.(232-234)GTG>GCG	p.V78A	SLFN5_uc002hje.2_Missense_Mutation_p.V78A|SLFN5_uc010wcg.1_Missense_Mutation_p.V78A	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	schlafen family member 5	78					cell differentiation		ATP binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GGATTGGATGTGCCTCCAATT	0.433												
ACACA	31	broad.mit.edu	37	17	35470033	35470033	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:35470033G>A	uc002hnm.2	-	51	6522	c.6331C>T	c.(6331-6333)CGA>TGA	p.R2111*	ACACA_uc002hnk.2_Nonsense_Mutation_p.R2033*|ACACA_uc002hnl.2_Nonsense_Mutation_p.R2053*|ACACA_uc002hnn.2_Nonsense_Mutation_p.R2111*|ACACA_uc002hno.2_Nonsense_Mutation_p.R2148*|ACACA_uc010cuy.2_Nonsense_Mutation_p.R756*|ACACA_uc010wdb.1_Nonsense_Mutation_p.R149*|ACACA_uc010wdc.1_Nonsense_Mutation_p.R237*	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	2111	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTGCTTTCTCGGTCAGCATAC	0.552												
GRB7	2886	broad.mit.edu	37	17	37900851	37900851	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:37900851G>A	uc002hsr.2	+	8	1097	c.847G>A	c.(847-849)GTG>ATG	p.V283M	GRB7_uc002hss.2_Missense_Mutation_p.V283M|GRB7_uc010cwc.2_Missense_Mutation_p.V283M|GRB7_uc002hst.2_Missense_Mutation_p.V283M	NM_005310	NP_005301	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	283	PH.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			lung(2)|ovary(1)|breast(1)|skin(1)	5	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGAGTCCAACGTGTACGTGGT	0.582												
IKZF3	22806	broad.mit.edu	37	17	37922143	37922143	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:37922143C>T	uc002hsu.2	-	8	1492	c.1430G>A	c.(1429-1431)CGT>CAT	p.R477H	IKZF3_uc002htd.2_Missense_Mutation_p.R443H|IKZF3_uc010cwd.2_Missense_Mutation_p.R334H|IKZF3_uc002hsv.2_Missense_Mutation_p.R404H|IKZF3_uc010cwe.2_Missense_Mutation_p.R343H|IKZF3_uc010cwf.2_Missense_Mutation_p.R295H|IKZF3_uc010cwg.2_Missense_Mutation_p.R256H|IKZF3_uc002hsw.2_Missense_Mutation_p.R438H|IKZF3_uc002hsx.2_Missense_Mutation_p.R421H|IKZF3_uc002hsy.2_Missense_Mutation_p.R438H|IKZF3_uc002hsz.2_Missense_Mutation_p.R382H|IKZF3_uc002hta.2_Missense_Mutation_p.R399H|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.R390H|IKZF3_uc002htc.2_Missense_Mutation_p.R230H|IKZF3_uc010wel.1_Missense_Mutation_p.R230H	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	aiolos isoform 1	477					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)|kidney(2)|skin(2)	6	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GAAAGGGTCACGGAAGCCGTG	0.527												
IKZF3	22806	broad.mit.edu	37	17	37947745	37947745	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:37947745T>G	uc002hsu.2	-	5	578	c.516A>C	c.(514-516)AAA>AAC	p.K172N	IKZF3_uc002htd.2_Missense_Mutation_p.K138N|IKZF3_uc010cwd.2_Intron|IKZF3_uc002hsv.2_Missense_Mutation_p.K138N|IKZF3_uc010cwe.2_Intron|IKZF3_uc010cwf.2_Intron|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Missense_Mutation_p.K172N|IKZF3_uc002hsx.2_Intron|IKZF3_uc002hsy.2_Missense_Mutation_p.K172N|IKZF3_uc002hsz.2_Intron|IKZF3_uc002hta.2_Missense_Mutation_p.K172N|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.K85N|IKZF3_uc002htc.2_Intron	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	aiolos isoform 1	172					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)|kidney(2)|skin(2)	6	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ACTTAAAAGGTTTTTCCCCTG	0.458												
KRT31	3881	broad.mit.edu	37	17	39551538	39551538	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:39551538C>T	uc002hwn.2	-	5	888	c.835G>A	c.(835-837)GTC>ATC	p.V279I	KRT31_uc010cxn.2_Missense_Mutation_p.V279I	NM_002277	NP_002268	Q15323	K1H1_HUMAN	keratin 31	279	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton				0		Breast(137;0.000496)				AGGGCGTTGACTGTGCGTCTC	0.602												
DNAJC7	7266	broad.mit.edu	37	17	40134291	40134291	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:40134291C>T	uc002hyo.2	-	11	1450	c.1213G>A	c.(1213-1215)GCC>ACC	p.A405T	DNAJC7_uc010cxu.2_Missense_Mutation_p.A349T|DNAJC7_uc010cxv.2_Intron|DNAJC7_uc010wgb.1_Missense_Mutation_p.A349T|DNAJC7_uc010wgc.1_Missense_Mutation_p.A263T|DNAJC7_uc002hyp.2_Missense_Mutation_p.A349T	NM_003315	NP_003306	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	405	J.				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			ovary(1)	1		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				TGCATCAAGGCCCGTTTCCGA	0.542												
TMEM101	84336	broad.mit.edu	37	17	42090431	42090431	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:42090431G>A	uc002ieu.2	-	3	436	c.411C>T	c.(409-411)AGC>AGT	p.S137S	TMEM101_uc010wis.1_Silent_p.S79S	NM_032376	NP_115752	Q96IK0	TM101_HUMAN	transmembrane protein 101	137					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCAGGGAGCGGCTGCGAGGTT	0.617												
FZD2	2535	broad.mit.edu	37	17	42635524	42635524	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:42635524C>T	uc002igx.1	+	1	600	c.468C>T	c.(466-468)TCC>TCT	p.S156S		NM_001466	NP_001457	Q14332	FZD2_HUMAN	frizzled 2 precursor	156	Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|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			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AGAACCACTCCGAGGACGGAG	0.428												
C1QL1	10882	broad.mit.edu	37	17	43044868	43044868	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:43044868G>A	uc002ihv.2	-	1	777	c.549C>T	c.(547-549)CGC>CGT	p.R183R		NM_006688	NP_006679	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	183	C1q.				locomotory behavior	collagen					0		Prostate(33;0.155)				CGTCGCCGCCGCGCATGAGGA	0.642												
PLCD3	113026	broad.mit.edu	37	17	43195441	43195441	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:43195441C>T	uc002iib.2	-	7	1294	c.1180G>A	c.(1180-1182)GTC>ATC	p.V394I		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	394	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)	TGATAGATGACGGGCTCCCCT	0.642												
TBX21	30009	broad.mit.edu	37	17	45822678	45822678	+	Silent	SNP	T	T	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:45822678T>G	uc002ilv.1	+	6	1765	c.1554T>G	c.(1552-1554)CCT>CCG	p.P518P		NM_013351	NP_037483	Q9UL17	TBX21_HUMAN	T-box 21	518					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0						CTGGGGCCCCTTCTCCTTTTG	0.498												
HOXB3	3213	broad.mit.edu	37	17	46629792	46629792	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:46629792G>A	uc002inn.2	-	1	445	c.45C>T	c.(43-45)TTC>TTT	p.F15F	HOXB3_uc010wlm.1_Intron|HOXB3_uc010dbf.2_Silent_p.F15F|HOXB3_uc010dbg.2_Silent_p.F15F|HOXB3_uc002ino.2_Silent_p.F15F|HOXB3_uc010wlk.1_Intron|HOXB3_uc010wll.1_Intron	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	15					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AATAGCCTCCGAAGAGAGCAG	0.632												
IGF2BP1	10642	broad.mit.edu	37	17	47118830	47118830	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:47118830G>T	uc002iom.2	+	8	1243	c.909G>T	c.(907-909)GAG>GAT	p.E303D	IGF2BP1_uc010dbj.2_Missense_Mutation_p.E164D	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	303	Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).|KH 2.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			kidney(1)	1						AGAAGGTAGAGCAAGATACCG	0.502												
SPAG9	9043	broad.mit.edu	37	17	49057256	49057256	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:49057256C>A	uc002itc.2	-	26	3469	c.3260G>T	c.(3259-3261)AGG>ATG	p.R1087M	SPAG9_uc002itb.2_Missense_Mutation_p.R1073M|SPAG9_uc002itd.2_Missense_Mutation_p.R1077M|SPAG9_uc002ita.2_Missense_Mutation_p.R930M	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	1087					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GCTCTCCTTCCTGGGATGTGC	0.448												
PCTP	58488	broad.mit.edu	37	17	53851106	53851106	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:53851106C>T	uc002iul.3	+	4	470	c.361C>T	c.(361-363)CGA>TGA	p.R121*	PCTP_uc002ium.3_Nonsense_Mutation_p.R49*|PCTP_uc010dcg.2_Intron|PCTP_uc010dch.2_RNA	NM_021213	NP_067036	Q9UKL6	PPCT_HUMAN	phosphatidylcholine transfer protein isoform 1	121	START.					cytosol	phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity			lung(1)	1			BRCA - Breast invasive adenocarcinoma(1;0.00207)			TCGGCAGCGGCGAGACCTGGA	0.567												
TRIM25	7706	broad.mit.edu	37	17	54972887	54972887	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:54972887A>G	uc002iut.2	-	7	1319	c.1259T>C	c.(1258-1260)TTG>TCG	p.L420S	TRIM25_uc010dcj.2_Missense_Mutation_p.L212S	NM_005082	NP_005073	Q14258	TRI25_HUMAN	tripartite motif-containing 25	420	Interaction with influenza A virus NS1.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|breast(1)|skin(1)	3	Breast(9;6.15e-08)					CTTACCCTCCAAGCCAGCTTG	0.527												
AKAP1	8165	broad.mit.edu	37	17	55191844	55191844	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:55191844G>A	uc002iux.2	+	6	2359	c.2128G>A	c.(2128-2130)GTG>ATG	p.V710M	AKAP1_uc010wnl.1_Missense_Mutation_p.V710M|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Missense_Mutation_p.V710M	NM_003488	NP_003479	Q92667	AKAP1_HUMAN	A-kinase anchor protein 1 precursor	710					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			ovary(1)	1	Breast(9;5.46e-08)					TGGCATCACCGTGGAGGTCAT	0.567											OREG0024595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LPO	4025	broad.mit.edu	37	17	56342193	56342193	+	Silent	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:56342193C>A	uc002ivt.2	+	10	1693	c.1377C>A	c.(1375-1377)GTC>GTA	p.V459V	LPO_uc010wns.1_Silent_p.V400V|LPO_uc010dcp.2_Silent_p.V376V|LPO_uc010dcq.2_Silent_p.V130V|LPO_uc010dcr.2_Silent_p.V22V	NM_006151	NP_006142	P22079	PERL_HUMAN	lactoperoxidase isoform 1 preproprotein	459					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|breast(1)	2						TTTCCAATGTCTTCACCTTCG	0.517												
RNF43	54894	broad.mit.edu	37	17	56435035	56435035	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:56435035C>T	uc002iwf.2	-	8	4058	c.2102G>A	c.(2101-2103)TGT>TAT	p.C701Y	RNF43_uc010wnv.1_Missense_Mutation_p.C660Y|RNF43_uc002iwh.3_Missense_Mutation_p.C701Y|RNF43_uc002iwg.3_Missense_Mutation_p.C701Y|RNF43_uc010dcw.2_Missense_Mutation_p.C574Y	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43 precursor	701	Pro-rich.|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)					TGGAGGTCCACAGATCAAGGG	0.592												
RNF43	54894	broad.mit.edu	37	17	56435709	56435709	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:56435709A>G	uc002iwf.2	-	8	3384	c.1428T>C	c.(1426-1428)AGT>AGC	p.S476S	RNF43_uc010wnv.1_Silent_p.S435S|RNF43_uc002iwh.3_Silent_p.S476S|RNF43_uc002iwg.3_Silent_p.S476S|RNF43_uc010dcw.2_Silent_p.S349S	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43 precursor	476	Cytoplasmic (Potential).|Ser-rich.					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)					CCACAGAGTCACTGGAAGAGC	0.567												
TRIM37	4591	broad.mit.edu	37	17	57134370	57134370	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:57134370A>G	uc002iwy.3	-	13	1509	c.1065T>C	c.(1063-1065)CCT>CCC	p.P355P	TRIM37_uc002iwz.3_Silent_p.P355P|TRIM37_uc002ixa.3_Silent_p.P233P|TRIM37_uc010woc.1_Silent_p.P321P	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	355	MATH.					perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TATTTTTTGTAGGATCATTAC	0.333									Mulibrey_Nanism			
USP32	84669	broad.mit.edu	37	17	58288786	58288786	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:58288786G>A	uc002iyo.1	-	20	2555	c.2269C>T	c.(2269-2271)CCA>TCA	p.P757S	USP32_uc002iyn.1_Missense_Mutation_p.P427S	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	757					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TGTGTCAGTGGCTGTGTGTTA	0.433												
CSHL1	1444	broad.mit.edu	37	17	61988105	61988105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:61988105C>A	uc002jda.1	-	2	252	c.190G>T	c.(190-192)GAA>TAA	p.E64*	CSHL1_uc002jcz.1_Missense_Mutation_p.D64Y|CSHL1_uc002jdb.1_Intron|CSHL1_uc002jdc.1_Intron|CSHL1_uc002jdd.1_Intron|CSHL1_uc002jde.2_Missense_Mutation_p.G92C|CSHL1_uc002jdf.2_Intron|CSHL1_uc002jdg.2_Missense_Mutation_p.G64C|CSHL1_uc002jdh.2_Intron	NM_022579	NP_072101	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	64						extracellular region	hormone activity|metal ion binding				0						TGACCCGCACCCATTCCCCAA	0.532												
POLG2	11232	broad.mit.edu	37	17	62481916	62481916	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:62481916G>T	uc002jei.2	-	5	1122	c.1039C>A	c.(1039-1041)CTG>ATG	p.L347M	POLG2_uc010deg.1_Missense_Mutation_p.L347M	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	DNA polymerase subunit gamma-2, mitochondrial	347					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)	1	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			AGGTAGGCCAGCATGCCTCGG	0.408												
LRRC37A3	374819	broad.mit.edu	37	17	62856577	62856577	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:62856577G>A	uc002jey.2	-	11	4218	c.3687C>T	c.(3685-3687)AAC>AAT	p.N1229N	LRRC37A3_uc010wqg.1_Silent_p.N347N|LRRC37A3_uc002jex.1_Silent_p.N206N|LRRC37A3_uc010wqf.1_Silent_p.N267N|LRRC37A3_uc010dek.1_Silent_p.N235N	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1229	Extracellular (Potential).					integral to membrane					0						TGTAGACGGCGTTTCCCGCTA	0.572												
BPTF	2186	broad.mit.edu	37	17	65850305	65850305	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:65850305T>C	uc002jgf.2	+	2	924	c.863T>C	c.(862-864)GTT>GCT	p.V288A	BPTF_uc002jge.2_Missense_Mutation_p.V288A|BPTF_uc010wqm.1_Missense_Mutation_p.V288A	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	288	DDT.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GAGATGCATGTTGTGCTTTTG	0.433												
CDC42EP4	23580	broad.mit.edu	37	17	71282556	71282556	+	Silent	SNP	G	G	A	rs141752695		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:71282556G>A	uc002jjn.2	-	2	231	c.84C>T	c.(82-84)AGC>AGT	p.S28S	CDC42EP4_uc002jjo.2_Silent_p.S28S|CDC42EP4_uc002jjp.1_Silent_p.S28S	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Cdc42 effector protein 4	28	CRIB.				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)			CCAGCGGGGCGCTGATCATCT	0.662												
GPRC5C	55890	broad.mit.edu	37	17	72436848	72436848	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:72436848C>A	uc002jks.2	+	1	972	c.933C>A	c.(931-933)AGC>AGA	p.S311R	GPRC5C_uc002jkp.2_Missense_Mutation_p.S356R|GPRC5C_uc002jkq.2_Intron|GPRC5C_uc002jkr.2_Missense_Mutation_p.S323R|GPRC5C_uc002jkt.2_Missense_Mutation_p.S311R|GPRC5C_uc002jku.2_5'Flank	NM_018653	NP_061123	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor family C, group 5,	311	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1)	5						CAGAGCAAAGCTACCAGGGGG	0.612												
OTOP3	347741	broad.mit.edu	37	17	72937882	72937882	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:72937882C>T	uc010wrr.1	+	2	468	c.468C>T	c.(466-468)CAC>CAT	p.H156H	OTOP3_uc010wrq.1_Silent_p.H138H	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	otopetrin 3	156						integral to membrane|intracellular	zinc ion binding			ovary(1)	1	all_lung(278;0.151)|Lung NSC(278;0.185)					AAGATCCCCACGCGGGGCCCC	0.687												
OTOP3	347741	broad.mit.edu	37	17	72942905	72942905	+	Missense_Mutation	SNP	G	G	A	rs141385371		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:72942905G>A	uc010wrr.1	+	6	955	c.955G>A	c.(955-957)GTG>ATG	p.V319M	OTOP3_uc010wrq.1_Missense_Mutation_p.V301M	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	otopetrin 3	319						integral to membrane|intracellular	zinc ion binding			ovary(1)	1	all_lung(278;0.151)|Lung NSC(278;0.185)					GGGCCGCCACGTGGCACCCCA	0.637												
ST6GALNAC1	55808	broad.mit.edu	37	17	74623163	74623163	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:74623163G>A	uc002jsh.2	-	4	1332	c.1158C>T	c.(1156-1158)CAC>CAT	p.H386H	ST6GALNAC1_uc002jsi.2_Silent_p.H254H|ST6GALNAC1_uc002jsj.2_RNA	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	sialyltransferase 7A	386	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity				0						ACACGTAGTCGTGACTGTCTA	0.433												
CYTH1	9267	broad.mit.edu	37	17	76696462	76696462	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:76696462C>T	uc002jvw.2	-	7	572	c.501G>A	c.(499-501)GCG>GCA	p.A167A	CYTH1_uc010wtw.1_Silent_p.A108A|CYTH1_uc010wtx.1_Silent_p.A108A	NM_017456	NP_059430	Q15438	CYH1_HUMAN	cytohesin 1 isoform 2	167	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						GCTGGGCAAACGCCTCCATCA	0.512												
GAA	2548	broad.mit.edu	37	17	78086728	78086728	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:78086728G>A	uc002jxo.2	+	15	2124	c.1942G>A	c.(1942-1944)GGC>AGC	p.G648S	GAA_uc002jxp.2_Missense_Mutation_p.G648S|GAA_uc002jxq.2_Missense_Mutation_p.G648S	NM_001079803	NP_001073271	P10253	LYAG_HUMAN	acid alpha-glucosidase preproprotein	648			G -> S (in GSD2).		cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			ovary(1)	1	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CGACGTCTGCGGCTTCCTGGG	0.637												
SLC26A11	284129	broad.mit.edu	37	17	78195443	78195443	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:78195443G>A	uc002jyb.1	+	3	353	c.84G>A	c.(82-84)GCG>GCA	p.A28A	SGSH_uc002jxz.3_5'Flank|SGSH_uc002jya.3_5'Flank|SGSH_uc002jxy.2_5'Flank|SGSH_uc010wue.1_5'Flank|SLC26A11_uc002jyc.1_Silent_p.A28A|SLC26A11_uc002jyd.1_Silent_p.A28A|SLC26A11_uc010dhv.1_Silent_p.A28A	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	solute carrier family 26, member 11	28	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity				0	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCTCCCCTGCGGCCCTGCAGA	0.687												
RNF213	57674	broad.mit.edu	37	17	78337427	78337427	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:78337427G>A	uc002jyh.1	+	16	6029	c.5806G>A	c.(5806-5808)GCA>ACA	p.A1936T	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.A318T	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)			CGCATTTGCCGCAATGGCCTG	0.627												
RPTOR	57521	broad.mit.edu	37	17	78882653	78882653	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:78882653T>C	uc002jyt.1	+	21	3249	c.2444T>C	c.(2443-2445)CTG>CCG	p.L815P	RPTOR_uc010wug.1_Missense_Mutation_p.L657P	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	815					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						TGGAGAGTCCTGCTGCACCTG	0.522												
C17orf56	146705	broad.mit.edu	37	17	79205464	79205464	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:79205464A>G	uc002jzu.1	-	9	751	c.729T>C	c.(727-729)TGT>TGC	p.C243C	C17orf56_uc002jzr.1_5'Flank|C17orf56_uc002jzs.1_Silent_p.C159C|C17orf56_uc002jzt.1_Silent_p.C159C|C17orf56_uc002jzv.1_Silent_p.C91C|uc002jzw.1_RNA	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	hypothetical protein LOC146705	243						integral to membrane					0	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ACTCCTGCTGACAGTCACTCA	0.652												
C17orf101	79701	broad.mit.edu	37	17	80361822	80361822	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:80361822G>A	uc002keu.1	-	7	791	c.690C>T	c.(688-690)CAC>CAT	p.H230H	C17orf101_uc002ket.1_Silent_p.H230H|C17orf101_uc010dip.1_RNA	NM_024648	NP_078924	Q6PK18	CQ101_HUMAN	hypothetical protein LOC79701 isoform 1	230	Fe2OG dioxygenase.|Lumenal (Potential).	Iron (By similarity).				integral to membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(1)	1						CCTTGTCCACGTGCGCATGCC	0.672												
USP14	9097	broad.mit.edu	37	18	211247	211247	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:211247G>A	uc002kkf.1	+	16	1664	c.1448G>A	c.(1447-1449)CGC>CAC	p.R483H	USP14_uc002kkg.1_Missense_Mutation_p.R448H|USP14_uc010wyr.1_Missense_Mutation_p.R472H	NM_005151	NP_005142	P54578	UBP14_HUMAN	ubiquitin specific protease 14 isoform a	483					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)	2		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TATGGGCCTCGCAGAGTTGAA	0.363												
EPB41L3	23136	broad.mit.edu	37	18	5410606	5410606	+	Missense_Mutation	SNP	G	G	A	rs143942399		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:5410606G>A	uc002kmt.1	-	14	2166	c.2080C>T	c.(2080-2082)CGC>TGC	p.R694C	EPB41L3_uc010wzh.1_Missense_Mutation_p.R525C|EPB41L3_uc002kmu.1_Missense_Mutation_p.R525C|EPB41L3_uc010dkq.1_Missense_Mutation_p.R416C|EPB41L3_uc002kms.1_5'UTR|EPB41L3_uc010wze.1_5'UTR|EPB41L3_uc010wzf.1_5'UTR|EPB41L3_uc010wzg.1_5'UTR|EPB41L3_uc010dkr.2_Missense_Mutation_p.R86C	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	694	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						GTGTCCGTGCGCTCACTGTCA	0.557												
CEP192	55125	broad.mit.edu	37	18	13056468	13056468	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:13056468C>T	uc010xac.1	+	19	3959	c.3879C>T	c.(3877-3879)GGC>GGT	p.G1293G	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Silent_p.G818G|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Silent_p.G1034G	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1293										ovary(4)|pancreas(1)	5						TCTCAGGAGGCCTTCCCTATC	0.532												
MC2R	4158	broad.mit.edu	37	18	13885348	13885348	+	Missense_Mutation	SNP	G	G	A	rs140534585		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:13885348G>A	uc002ksp.1	-	2	347	c.170C>T	c.(169-171)GCA>GTA	p.A57V		NM_000529	NP_000520	Q01718	ACTHR_HUMAN	melanocortin 2 receptor	57	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			ovary(4)|skin(1)	5					Corticotropin(DB01285)|Cosyntropin(DB01284)	GTACATGGGTGCCTGGAGATT	0.418												
OSBPL1A	114876	broad.mit.edu	37	18	21913010	21913010	+	Missense_Mutation	SNP	T	T	C	rs141897082	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:21913010T>C	uc002kve.2	-	7	695	c.521A>G	c.(520-522)CAG>CGG	p.Q174R		NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	oxysterol-binding protein-like 1A isoform B	174					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			ovary(4)	4	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					ATTTCCTAACTGATCCGAACA	0.393												
ZNF521	25925	broad.mit.edu	37	18	22805411	22805411	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:22805411A>G	uc002kvk.2	-	4	2718	c.2471T>C	c.(2470-2472)TTA>TCA	p.L824S	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.L824S|ZNF521_uc002kvl.2_Missense_Mutation_p.L604S	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	824	C2H2-type 20.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GTGTTTTTCTAACAAAATGAT	0.463			T	PAX5	ALL							
TAF4B	6875	broad.mit.edu	37	18	23845164	23845164	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:23845164C>T	uc002kvu.3	+	2	863	c.374C>T	c.(373-375)CCG>CTG	p.P125L	TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Missense_Mutation_p.P125L	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding	125					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)|skin(1)	3	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			AACAGTGGTCCGTTGATGTTG	0.388												
CHST9	83539	broad.mit.edu	37	18	24496680	24496680	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:24496680T>C	uc002kwd.2	-	5	1073	c.875A>G	c.(874-876)GAC>GGC	p.D292G	C18orf16_uc002kwb.2_Intron|C18orf16_uc010xbm.1_Intron|CHST9_uc002kwc.2_Missense_Mutation_p.D207G|CHST9_uc002kwe.2_Missense_Mutation_p.D292G	NM_031422	NP_113610	Q7L1S5	CHST9_HUMAN	GalNAc-4-sulfotransferase 2	292	Lumenal (Potential).				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			ovary(2)|skin(1)	3	all_lung(6;0.0145)|Ovarian(20;0.124)					TTCAAATTTGTCCCTAAAGGC	0.373												
DSC3	1825	broad.mit.edu	37	18	28605830	28605830	+	Missense_Mutation	SNP	G	G	A	rs137869359		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:28605830G>A	uc002kwj.3	-	5	681	c.526C>T	c.(526-528)CGT>TGT	p.R176C	DSC3_uc002kwi.3_Missense_Mutation_p.R176C	NM_001941	NP_001932	Q14574	DSC3_HUMAN	desmocollin 3 isoform Dsc3a preproprotein	176	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			ovary(2)|skin(2)	4			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TCAACTCCACGTCCACTTATT	0.313												
DSG3	1830	broad.mit.edu	37	18	29036431	29036431	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:29036431G>A	uc002kws.2	+	2	186	c.77G>A	c.(76-78)CGA>CAA	p.R26Q		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	26					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)			GGAGAATTGCGAATAGAGGTA	0.199												
FHOD3	80206	broad.mit.edu	37	18	34340718	34340718	+	Missense_Mutation	SNP	G	G	A	rs149906669		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:34340718G>A	uc002kzt.1	+	22	4094	c.3997G>A	c.(3997-3999)GTC>ATC	p.V1333I	FHOD3_uc002kzs.1_Missense_Mutation_p.V1350I|FHOD3_uc010dmz.1_Missense_Mutation_p.V1065I|FHOD3_uc010dnb.1_Intron	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1333					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)				CGCGCTGGGCGTCCGCACACG	0.677												
SETBP1	26040	broad.mit.edu	37	18	42530073	42530073	+	Silent	SNP	C	C	A	rs141858699		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:42530073C>A	uc010dni.2	+	4	1064	c.768C>A	c.(766-768)CCC>CCA	p.P256P		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	256						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CTCTTGAGCCCGTGGCTTCCT	0.537									Schinzel-Giedion_syndrome			
SETBP1	26040	broad.mit.edu	37	18	42643634	42643634	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:42643634C>T	uc010dni.2	+	6	5058	c.4762C>T	c.(4762-4764)CGA>TGA	p.R1588*		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1588						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GAGGAAGTCCCGAGGGAGTGA	0.682									Schinzel-Giedion_syndrome			
SLC14A1	6563	broad.mit.edu	37	18	43311097	43311097	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:43311097C>A	uc010xcn.1	+	5	588	c.269C>A	c.(268-270)CCC>CAC	p.P90H	SLC14A1_uc010dnk.2_Missense_Mutation_p.P146H|SLC14A1_uc002lbf.3_Missense_Mutation_p.P90H|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_5'UTR|SLC14A1_uc002lbh.3_Intron|SLC14A1_uc002lbi.3_Intron|SLC14A1_uc002lbj.3_Missense_Mutation_p.P146H|SLC14A1_uc002lbk.3_Missense_Mutation_p.P90H	NM_001146036	NP_001139508	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter),	90	Helical; (Potential).					integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|pancreas(1)	2						GTTCAGAACCCCTGGTGGGCT	0.547												
PSTPIP2	9050	broad.mit.edu	37	18	43579446	43579446	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:43579446C>T	uc002lbp.3	-	7	568	c.472G>A	c.(472-474)GTC>ATC	p.V158I	PSTPIP2_uc002lbq.3_Missense_Mutation_p.V158I	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting	158	Potential.					membrane				ovary(1)	1						CTCCGGCTGACGGCCTGTTCT	0.468												
KATNAL2	83473	broad.mit.edu	37	18	44601710	44601710	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:44601710G>A	uc002lco.2	+	11	1049	c.855G>A	c.(853-855)TCG>TCA	p.S285S	KATNAL2_uc010dnq.1_Silent_p.S64S|KATNAL2_uc002lcp.3_Silent_p.S212S	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	357						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						AGCTGGAGTCGGTGATGAGTC	0.502												
SMAD7	4092	broad.mit.edu	37	18	46448038	46448038	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:46448038C>T	uc002ldg.2	-	4	1272	c.985G>A	c.(985-987)GGT>AGT	p.G329S	SMAD7_uc002ldf.2_Missense_Mutation_p.G141S|SMAD7_uc010xde.1_Missense_Mutation_p.G114S	NM_005904	NP_005895	O15105	SMAD7_HUMAN	SMAD family member 7	329	MH2.				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding				0	Colorectal(1;0.0518)					ACCCACACACCATCCACCTCC	0.577												
KIAA1468	57614	broad.mit.edu	37	18	59936122	59936122	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:59936122G>A	uc002lil.2	+	20	2916	c.2701G>A	c.(2701-2703)GTC>ATC	p.V901I	KIAA1468_uc002lik.1_Missense_Mutation_p.V897I|KIAA1468_uc010xel.1_Missense_Mutation_p.V901I|KIAA1468_uc002lim.2_Missense_Mutation_p.V545I	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	901							binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6		Colorectal(73;0.186)				AGGAAATGGGGTCCTCACTAA	0.289												
DSEL	92126	broad.mit.edu	37	18	65180208	65180208	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:65180208A>G	uc002lke.1	-	2	2892	c.1668T>C	c.(1666-1668)CAT>CAC	p.H556H		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	546						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				CCATTTCCCCATGTTGAGAGG	0.483												
CBLN2	147381	broad.mit.edu	37	18	70209175	70209175	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:70209175G>A	uc002lku.2	-	2	456	c.221C>T	c.(220-222)GCG>GTG	p.A74V	CBLN2_uc002lkv.2_Missense_Mutation_p.A74V	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	74						integral to membrane					0		Esophageal squamous(42;0.131)				GGCGCCGTCCGCCGACGGGCT	0.716												
NFATC1	4772	broad.mit.edu	37	18	77193701	77193701	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:77193701C>G	uc010xfg.1	+	3	1802	c.1349C>G	c.(1348-1350)GCC>GGC	p.A450G	NFATC1_uc002lnc.1_Missense_Mutation_p.A450G|NFATC1_uc010xff.1_Missense_Mutation_p.A450G|NFATC1_uc002lnd.2_Missense_Mutation_p.A450G|NFATC1_uc002lne.2_5'UTR|NFATC1_uc010xfh.1_Missense_Mutation_p.A450G|NFATC1_uc010xfi.1_Missense_Mutation_p.A437G|NFATC1_uc010xfj.1_5'UTR|NFATC1_uc002lnf.2_Missense_Mutation_p.A437G|NFATC1_uc002lng.2_Missense_Mutation_p.A437G|NFATC1_uc010xfk.1_Missense_Mutation_p.A437G	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	450	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		AGCCGGGGGGCCGTGAAGGCG	0.632												
PQLC1	80148	broad.mit.edu	37	18	77664092	77664092	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:77664092C>T	uc002lnl.2	-	6	872	c.700G>A	c.(700-702)GGC>AGC	p.G234S	PQLC1_uc010dre.2_Missense_Mutation_p.G151S|PQLC1_uc002lnk.2_Missense_Mutation_p.G216S|PQLC1_uc010xfm.1_3'UTR	NM_025078	NP_079354	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1 isoform 1	234	Helical; (Potential).					integral to membrane				large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		TGCAGCAGGCCGCACACGGAG	0.667												
MIER2	54531	broad.mit.edu	37	19	308804	308804	+	Missense_Mutation	SNP	G	G	A	rs150878648		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:308804G>A	uc002lok.1	-	11	1115	c.1106C>T	c.(1105-1107)ACC>ATC	p.T369I		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGCACGTGGTTCCGGACGG	0.687												
PALM	5064	broad.mit.edu	37	19	726187	726187	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:726187G>A	uc002lpm.1	+	2	249	c.55G>A	c.(55-57)GCA>ACA	p.A19T	PALM_uc010xft.1_Missense_Mutation_p.A19T|PALM_uc002lpn.1_Missense_Mutation_p.A19T|PALM_uc010xfu.1_5'Flank	NM_002579	NP_002570	O75781	PALM_HUMAN	paralemmin isoform 1	19	Potential.				cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane					0		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		GCAGGCCATCGCAGTGAGTTT	0.612												
MBD3	53615	broad.mit.edu	37	19	1581136	1581136	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:1581136G>A	uc002ltl.1	-	5	654	c.632C>T	c.(631-633)ACG>ATG	p.T211M	MBD3_uc002ltj.2_Missense_Mutation_p.T211M|MBD3_uc002ltk.2_Missense_Mutation_p.T179M	NM_003926	NP_003917	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	211					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGGCTGCGTGGTGTTGAG	0.657												
FAM108A1	81926	broad.mit.edu	37	19	1879997	1879997	+	Silent	SNP	G	G	A	rs139072903	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:1879997G>A	uc002lug.2	-	3	856	c.450C>T	c.(448-450)TAC>TAT	p.Y150Y	FAM108A1_uc002lud.2_Silent_p.Y132Y|FAM108A1_uc002lue.2_Silent_p.Y150Y|FAM108A1_uc002luf.2_Silent_p.Y201Y	NM_001130111	NP_001123583	Q96GS6	F18A1_HUMAN	hypothetical protein LOC81926 isoform 2	150						extracellular region	hydrolase activity				0		Ovarian(11;0.000137)		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)		AGCTGGCACCGTAGCCGGAGT	0.667												
TMPRSS9	360200	broad.mit.edu	37	19	2421894	2421894	+	Missense_Mutation	SNP	G	G	A	rs151191920		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:2421894G>A	uc010xgx.1	+	13	2095	c.2095G>A	c.(2095-2097)GTG>ATG	p.V699M		NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	699	Extracellular (Potential).|Peptidase S1 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				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)		GGCCCCTGGCGTGTTTTATCT	0.612												
SLC39A3	29985	broad.mit.edu	37	19	2733010	2733010	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:2733010G>A	uc002lwg.2	-	3	938	c.684C>T	c.(682-684)GAC>GAT	p.D228D	SLC39A3_uc010xgy.1_Silent_p.D228D	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter),	228	Cytoplasmic (Potential).					integral to membrane|plasma membrane	zinc ion transmembrane 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)		GCTTGGCCGCGTCCCGCAGGG	0.706												
DOHH	83475	broad.mit.edu	37	19	3496662	3496662	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:3496662A>G	uc002lxs.2	-	2	314	c.151T>C	c.(151-153)TCC>CCC	p.S51P	DOHH_uc010xhl.1_Missense_Mutation_p.S51P	NM_031304	NP_112594	Q9BU89	DOHH_HUMAN	deoxyhypusine hydroxylase/monooxygenase	51					peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCAGGGCGGAATCGTCATCG	0.677												
C19orf28	126321	broad.mit.edu	37	19	3546152	3546152	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:3546152G>A	uc002lxz.2	-	8	1379	c.1209C>T	c.(1207-1209)TTC>TTT	p.F403F	C19orf28_uc002lxw.2_Silent_p.F403F|C19orf28_uc002lxx.2_Silent_p.F403F|C19orf28_uc002lxy.2_Silent_p.F394F	NM_174983	NP_778148	Q6NUT3	CS028_HUMAN	hypothetical protein LOC126321 isoform c	403	Helical; (Potential).				transmembrane transport	integral to membrane				breast(1)|pancreas(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCGTACACGAACGCTCCGC	0.637												
C19orf28	126321	broad.mit.edu	37	19	3547329	3547329	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:3547329G>T	uc002lxz.2	-	6	1134	c.964C>A	c.(964-966)CTC>ATC	p.L322I	C19orf28_uc002lxw.2_Missense_Mutation_p.L322I|C19orf28_uc002lxx.2_Missense_Mutation_p.L322I|C19orf28_uc002lxy.2_Missense_Mutation_p.L313I	NM_174983	NP_778148	Q6NUT3	CS028_HUMAN	hypothetical protein LOC126321 isoform c	322	Helical; (Potential).				transmembrane transport	integral to membrane				breast(1)|pancreas(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGCCGCTGAGGTACATCACC	0.632												
C19orf29	58509	broad.mit.edu	37	19	3613306	3613306	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:3613306G>A	uc002lyh.2	-	9	1589	c.1536C>T	c.(1534-1536)CCC>CCT	p.P512P	C19orf29_uc010xho.1_5'UTR|C19orf29_uc010dtn.2_Silent_p.P360P|C19orf29_uc002lyi.3_Silent_p.P512P|C19orf29_uc010dto.2_RNA|C19orf29_uc010xhp.1_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	512						catalytic step 2 spliceosome	protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCCTCCGCGGGGCCGCCCT	0.786												
C19orf29	58509	broad.mit.edu	37	19	3624077	3624077	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:3624077C>A	uc002lyh.2	-	2	304	c.251G>T	c.(250-252)GGG>GTG	p.G84V	C19orf29_uc002lyi.3_Missense_Mutation_p.G84V|C19orf29_uc010dto.2_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	84						catalytic step 2 spliceosome	protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGAGAGGACCCATCTCTTGA	0.672												
TJP3	27134	broad.mit.edu	37	19	3734422	3734422	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:3734422C>T	uc010xhv.1	+	7	1074	c.1074C>T	c.(1072-1074)ACC>ACT	p.T358T	TJP3_uc010xhs.1_Silent_p.T325T|TJP3_uc010xht.1_Silent_p.T289T|TJP3_uc010xhu.1_Silent_p.T334T|TJP3_uc010xhw.1_Silent_p.T344T	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	339						tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCCAGACCGACTCTCCCG	0.647												
TJP3	27134	broad.mit.edu	37	19	3746525	3746525	+	Missense_Mutation	SNP	C	C	T	rs142262857		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:3746525C>T	uc010xhv.1	+	16	2152	c.2152C>T	c.(2152-2154)CGC>TGC	p.R718C	TJP3_uc010xhs.1_Missense_Mutation_p.R685C|TJP3_uc010xht.1_Missense_Mutation_p.R649C|TJP3_uc010xhu.1_Missense_Mutation_p.R694C|TJP3_uc010xhw.1_Missense_Mutation_p.R704C	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	699	Guanylate kinase-like.					tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCATCGAGCGCCTCAACTA	0.652												
SHD	56961	broad.mit.edu	37	19	4283236	4283236	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:4283236G>A	uc002lzw.2	+	3	2052	c.589G>A	c.(589-591)GCA>ACA	p.A197T	SHD_uc010dtu.2_Missense_Mutation_p.A197T	NM_020209	NP_064594	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming	197											0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGCGTTTGCAGGTGCTTC	0.532												
TICAM1	148022	broad.mit.edu	37	19	4816902	4816902	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:4816902C>T	uc002mbi.2	-	2	1739	c.1488G>A	c.(1486-1488)CCG>CCA	p.P496P		NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	496					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TGAGCTGGGCCGGGGAGCTCT	0.652												
UHRF1	29128	broad.mit.edu	37	19	4947210	4947210	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:4947210A>T	uc002mbo.2	+	11	1672	c.1504A>T	c.(1504-1506)ACC>TCC	p.T502S	UHRF1_uc010xik.1_RNA|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.T515S	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains	502	YDG.|Methyl-CpG binding and interaction with HDAC1.				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TCAGAAACTCACCAACACCAA	0.478												
KDM4B	23030	broad.mit.edu	37	19	5047503	5047503	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:5047503A>G	uc002mbq.3	+	6	675	c.449A>G	c.(448-450)AAC>AGC	p.N150S	KDM4B_uc010xil.1_Missense_Mutation_p.N150S|KDM4B_uc010xim.1_Missense_Mutation_p.N150S	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	150	JmjC.				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						GCCCAGTGGAACATCGGGAGC	0.667												
PTPRS	5802	broad.mit.edu	37	19	5238970	5238970	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:5238970G>A	uc002mbv.2	-	13	2043	c.1809C>T	c.(1807-1809)GGC>GGT	p.G603G	PTPRS_uc002mbu.1_Silent_p.G590G|PTPRS_uc010xin.1_Silent_p.G590G|PTPRS_uc002mbw.2_Silent_p.G590G|PTPRS_uc002mbx.2_Silent_p.G594G|PTPRS_uc002mby.2_Silent_p.G590G	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	603	Extracellular (Potential).|Fibronectin type-III 3.				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)		GGGTGAAGGCGCCCAGGCCCT	0.706												
LONP1	9361	broad.mit.edu	37	19	5711821	5711821	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:5711821G>A	uc002mcx.2	-	4	864	c.831C>T	c.(829-831)AAC>AAT	p.N277N	LONP1_uc002mcy.2_Silent_p.N213N|LONP1_uc010duh.2_Silent_p.N18N|LONP1_uc010dui.2_Intron|LONP1_uc002mcz.2_Silent_p.N81N	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	277	Lon.				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0						CGTGGACAACGTTCTCTACCT	0.682												
DUS3L	56931	broad.mit.edu	37	19	5786792	5786792	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:5786792C>A	uc002mdc.2	-	9	1551	c.1454G>T	c.(1453-1455)TGC>TTC	p.C485F	PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.2_Missense_Mutation_p.C243F|DUS3L_uc010duk.2_Missense_Mutation_p.C150F	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like isoform 1	485					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding				0						GGCCTGCACGCACTCCTCGAT	0.622												
RFX2	5990	broad.mit.edu	37	19	6002844	6002844	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:6002844C>T	uc002meb.2	-	14	1807	c.1538G>A	c.(1537-1539)CGC>CAC	p.R513H	RFX2_uc002mec.2_Missense_Mutation_p.R488H	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6						GGACGTGTAGCGCCGCAGCGT	0.662												
RFX2	5990	broad.mit.edu	37	19	6040186	6040186	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:6040186G>A	uc002meb.2	-	5	596	c.327C>T	c.(325-327)TTC>TTT	p.F109F	RFX2_uc002mec.2_Silent_p.F109F|RFX2_uc010xiy.1_Silent_p.F64F	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6						CTGGGGCCTCGAAGTAAGAAG	0.642												
VAV1	7409	broad.mit.edu	37	19	6825086	6825086	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:6825086G>A	uc002mfu.1	+	7	774	c.677G>A	c.(676-678)CGG>CAG	p.R226Q	VAV1_uc010xjh.1_Missense_Mutation_p.R194Q|VAV1_uc010dva.1_Missense_Mutation_p.R226Q|VAV1_uc002mfv.1_Missense_Mutation_p.R171Q	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	226	DH.				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						CCCCTGCAACGGTTCCTGAAA	0.473												
EMR1	2015	broad.mit.edu	37	19	6924823	6924823	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:6924823C>T	uc002mfw.2	+	15	1964	c.1926C>T	c.(1924-1926)TGC>TGT	p.C642C	EMR1_uc010dvc.2_Intron|EMR1_uc010dvb.2_Silent_p.C590C|EMR1_uc010xji.1_Silent_p.C501C|EMR1_uc010xjj.1_Silent_p.C465C	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	642	Helical; Name=2; (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)					TGCACCTCTGCGTGTGTCTCC	0.527												
EMR1	2015	broad.mit.edu	37	19	6935074	6935074	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:6935074C>T	uc002mfw.2	+	18	2404	c.2366C>T	c.(2365-2367)ACG>ATG	p.T789M	EMR1_uc010dvc.2_Missense_Mutation_p.T724M|EMR1_uc010dvb.2_Missense_Mutation_p.T770M|EMR1_uc010xji.1_Missense_Mutation_p.T648M|EMR1_uc010xjj.1_Missense_Mutation_p.T612M	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	789	Cytoplasmic (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)					GAAGTCTCAACGCTAAAAGAC	0.478												
EMR1	2015	broad.mit.edu	37	19	6937643	6937643	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:6937643C>A	uc002mfw.2	+	20	2677	c.2639C>A	c.(2638-2640)CCA>CAA	p.P880Q	EMR1_uc010dvc.2_Missense_Mutation_p.P815Q|EMR1_uc010dvb.2_Missense_Mutation_p.P861Q|EMR1_uc010xji.1_Missense_Mutation_p.P739Q|EMR1_uc010xjj.1_Missense_Mutation_p.P703Q	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	880	Cytoplasmic (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)					TCCTCCATGCCATCCGCTTCC	0.587												
PNPLA6	10908	broad.mit.edu	37	19	7625616	7625616	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:7625616G>A	uc010xjq.1	+	31	4007	c.3812G>A	c.(3811-3813)CGG>CAG	p.R1271Q	PNPLA6_uc002mgq.1_Missense_Mutation_p.R1223Q|PNPLA6_uc010xjp.1_Missense_Mutation_p.R1196Q|PNPLA6_uc002mgr.1_Missense_Mutation_p.R1223Q|PNPLA6_uc002mgs.2_Missense_Mutation_p.R1261Q|PNPLA6_uc002mgt.1_RNA	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	1262	Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						ACAGACCGGCGGTCTACAGAC	0.577												
MAP2K7	5609	broad.mit.edu	37	19	7975347	7975347	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:7975347C>T	uc002mit.2	+	5	522	c.457C>T	c.(457-459)CGC>TGC	p.R153C	MAP2K7_uc002miv.2_Missense_Mutation_p.R153C|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.R153C|MAP2K7_uc010dvv.2_Missense_Mutation_p.R28C	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	153	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	GCAAATGCGGCGCTCCGGGAA	0.632												
ANGPTL4	51129	broad.mit.edu	37	19	8431200	8431200	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:8431200C>T	uc002mjq.1	+	3	739	c.544C>T	c.(544-546)CAC>TAC	p.H182Y	ANGPTL4_uc002mjr.1_Missense_Mutation_p.H182Y|ANGPTL4_uc010xkc.1_Missense_Mutation_p.H15Y	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4 protein isoform a precursor	182	Fibrinogen C-terminal.				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			ovary(1)	1						CAGCCGCCTGCACCGTGAGTG	0.622												
MUC16	94025	broad.mit.edu	37	19	9067398	9067398	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:9067398G>A	uc002mkp.2	-	3	20252	c.20048C>T	c.(20047-20049)ACT>ATT	p.T6683I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6685	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						AGTAGCACCAGTGGTCAACTT	0.517												
MUC16	94025	broad.mit.edu	37	19	9068980	9068980	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:9068980C>T	uc002mkp.2	-	3	18670	c.18466G>A	c.(18466-18468)GCC>ACC	p.A6156T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6158	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						GTTTGTGTGGCGATGGTCTTG	0.507												
ZNF317	57693	broad.mit.edu	37	19	9270841	9270841	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:9270841G>A	uc002mku.2	+	7	795	c.520G>A	c.(520-522)GTC>ATC	p.V174I	ZNF317_uc002mkv.2_Missense_Mutation_p.V33I|ZNF317_uc002mkw.2_Missense_Mutation_p.V142I|ZNF317_uc002mkx.2_Missense_Mutation_p.V89I|ZNF317_uc002mky.2_Missense_Mutation_p.V57I	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTTGTTCGAAGTCTTTGGCAT	0.527												
ZNF317	57693	broad.mit.edu	37	19	9271917	9271917	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:9271917C>T	uc002mku.2	+	7	1871	c.1596C>T	c.(1594-1596)TGC>TGT	p.C532C	ZNF317_uc002mkv.2_Silent_p.C391C|ZNF317_uc002mkw.2_Silent_p.C500C|ZNF317_uc002mkx.2_Silent_p.C447C|ZNF317_uc002mky.2_Silent_p.C415C	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	532	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CGTACGAATGCGATCACTGTG	0.567												
ZNF559	84527	broad.mit.edu	37	19	9453476	9453476	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:9453476C>T	uc002mlg.2	+	7	1996	c.1349C>T	c.(1348-1350)TCG>TTG	p.S450L	ZNF559_uc002mlf.2_Missense_Mutation_p.S219L|ZNF559_uc010dwl.1_Missense_Mutation_p.S219L|ZNF559_uc010xkn.1_Missense_Mutation_p.S442L|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Missense_Mutation_p.S514L|ZNF559_uc010dwk.1_Missense_Mutation_p.S219L|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN	zinc finger protein 559	450	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AGATACTCCTCGCACCTTAGT	0.428												
ZNF426	79088	broad.mit.edu	37	19	9640164	9640164	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:9640164A>G	uc002mlq.2	-	8	821	c.557T>C	c.(556-558)CTG>CCG	p.L186P	ZNF426_uc010dws.2_Missense_Mutation_p.L148P	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	zinc finger protein 426	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTTCTCACACAGGGTAAGGAA	0.403												
LDLR	3949	broad.mit.edu	37	19	11224014	11224014	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:11224014G>A	uc002mqk.3	+	9	1415	c.1247G>A	c.(1246-1248)CGG>CAG	p.R416Q	LDLR_uc010xlk.1_Missense_Mutation_p.R416Q|LDLR_uc010xll.1_Missense_Mutation_p.R375Q|LDLR_uc010xlm.1_Missense_Mutation_p.R269Q|LDLR_uc010xln.1_Missense_Mutation_p.R289Q|LDLR_uc010xlo.1_Missense_Mutation_p.R248Q	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	416	LDL-receptor class B 1.|Extracellular (Potential).		R -> Q (in FH; German patient).|R -> W (in FH).		cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)|skin(2)	4		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	ACGCTGGACCGGAGCGAGTAC	0.622												
EPOR	2057	broad.mit.edu	37	19	11493831	11493831	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:11493831C>T	uc002mrj.1	-	2	329	c.193G>A	c.(193-195)GAG>AAG	p.E65K	EPOR_uc002mrh.2_5'Flank|EPOR_uc002mri.2_5'UTR|EPOR_uc002mrk.1_5'UTR|EPOR_uc002mrl.1_RNA|EPOR_uc010xlx.1_RNA|EPOR_uc010xly.1_5'UTR|RGL3_uc002mrn.2_3'UTR|RGL3_uc002mrm.2_3'UTR	NM_000121	NP_000112	P19235	EPOR_HUMAN	erythropoietin receptor precursor	65	Extracellular (Potential).					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			ovary(1)	1					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GCCGCTTCCTCCCAGAAACAC	0.682												
ZNF442	79973	broad.mit.edu	37	19	12461820	12461820	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:12461820C>T	uc002mtr.1	-	6	1190	c.579G>A	c.(577-579)TCG>TCA	p.S193S	ZNF442_uc010xmk.1_Silent_p.S124S	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	193	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|breast(1)|kidney(1)	4						GAAGGTTTCCCGAAGAACTGA	0.413												
DAND5	199699	broad.mit.edu	37	19	13080535	13080535	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:13080535T>C	uc002mwc.1	+	1	104	c.61T>C	c.(61-63)TCA>CCA	p.S21P	DAND5_uc010dyz.1_Missense_Mutation_p.S51P	NM_152654	NP_689867	Q8N907	DAND5_HUMAN	dante precursor	21						extracellular region				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			GCCTACAGGCTCAGGGAGGCC	0.547												
TRMT1	55621	broad.mit.edu	37	19	13220273	13220273	+	Missense_Mutation	SNP	G	G	A	rs150358822		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:13220273G>A	uc002mwj.2	-	11	1569	c.1319C>T	c.(1318-1320)CCG>CTG	p.P440L	TRMT1_uc010xmy.1_Missense_Mutation_p.P44L|TRMT1_uc002mwk.2_Missense_Mutation_p.P411L|TRMT1_uc002mwl.3_Missense_Mutation_p.P440L|TRMT1_uc010xmz.1_Missense_Mutation_p.P226L	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 isoform 1	440							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		AGGCACGTCCGGGAGCTCCTG	0.642												
CACNA1A	773	broad.mit.edu	37	19	13419248	13419248	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:13419248C>T	uc010dze.2	-	13	2002	c.1766G>A	c.(1765-1767)CGT>CAT	p.R589H	CACNA1A_uc010dzc.2_Missense_Mutation_p.R114H|CACNA1A_uc002mwy.3_Missense_Mutation_p.R588H|CACNA1A_uc010xne.1_Missense_Mutation_p.R114H	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	589	Helical; Name=S4 of repeat II; (Potential).|II.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TTTGAAAATACGCAATAACCT	0.507												
SIN3B	23309	broad.mit.edu	37	19	16980447	16980447	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:16980447G>C	uc002ney.1	+	14	2093	c.2079G>C	c.(2077-2079)CAG>CAC	p.Q693H	SIN3B_uc002nez.1_Missense_Mutation_p.Q661H|SIN3B_uc010xpi.1_Missense_Mutation_p.Q251H	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	693					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2						TGCTGCACCAGTTCGTGCCCA	0.647												
CPAMD8	27151	broad.mit.edu	37	19	17137400	17137400	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:17137400G>A	uc002nfb.2	-	1	226	c.194C>T	c.(193-195)TCG>TTG	p.S65L		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	18						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						GTCCCGCGCCGACAGCAGCAG	0.587												
NR2F6	2063	broad.mit.edu	37	19	17343237	17343237	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:17343237G>A	uc002nfq.2	-	4	1261	c.1139C>T	c.(1138-1140)ACG>ATG	p.T380M		NM_005234	NP_005225	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	380	Important for dimerization (By similarity).|Ligand-binding (By similarity).				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding				0						CTCAATGGGCGTCTTCCCCAC	0.667												
ANO8	57719	broad.mit.edu	37	19	17441686	17441686	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:17441686G>A	uc002ngf.2	-	8	1103	c.944C>T	c.(943-945)ACG>ATG	p.T315M	ANO8_uc010eap.2_RNA	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	anoctamin 8	315	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(3)	3						TGAGTCCAGCGTCCCCCACTT	0.592												
UPF1	5976	broad.mit.edu	37	19	18967769	18967769	+	Silent	SNP	C	C	T	rs140516243		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:18967769C>T	uc002nkg.2	+	14	2216	c.1941C>T	c.(1939-1941)GAC>GAT	p.D647D	UPF1_uc002nkf.2_Silent_p.D636D|UPF1_uc002nkh.2_5'Flank	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	647				DE->AA: Loss of ATPase activity and helicase activity.	cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						TTTTAATCGACGAAAGCACCC	0.622												
ZNF536	9745	broad.mit.edu	37	19	30936135	30936135	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:30936135G>A	uc002nsu.1	+	2	1804	c.1666G>A	c.(1666-1668)GGG>AGG	p.G556R	ZNF536_uc010edd.1_Missense_Mutation_p.G556R	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	556					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)					GGCAAACGCCGGGGTTCTGTT	0.542												
ZNF536	9745	broad.mit.edu	37	19	31039610	31039610	+	Silent	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:31039610G>T	uc002nsu.1	+	4	3222	c.3084G>T	c.(3082-3084)GCG>GCT	p.A1028A	ZNF536_uc010edd.1_Silent_p.A1028A	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1028					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)					TGGGCAAAGCGAAACGCAAAG	0.542												
ZNF536	9745	broad.mit.edu	37	19	31039805	31039805	+	Silent	SNP	C	C	T	rs147863190		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:31039805C>T	uc002nsu.1	+	4	3417	c.3279C>T	c.(3277-3279)AGC>AGT	p.S1093S	ZNF536_uc010edd.1_Silent_p.S1093S	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1093					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)					AGCAGAAGAGCGGTGCATGGA	0.537												
SLC7A9	11136	broad.mit.edu	37	19	33355638	33355638	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:33355638A>G	uc002ntv.3	-	3	249	c.132T>C	c.(130-132)ATT>ATC	p.I44I	SLC7A9_uc002ntt.3_Intron|SLC7A9_uc002ntu.3_Silent_p.I44I|SLC7A9_uc002ntw.3_Intron	NM_001126335	NP_001119807	P82251	BAT1_HUMAN	solute carrier family 7, member 9	44	Helical; (Potential).		I -> T (in CSNU; type I).		blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			skin(1)	1	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	TCCCAGAGCCAATGATGGTGC	0.627												
PEPD	5184	broad.mit.edu	37	19	34002042	34002042	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:34002042G>A	uc002nur.3	-	3	356	c.221C>T	c.(220-222)GCG>GTG	p.A74V	PEPD_uc010xrr.1_Missense_Mutation_p.A74V|PEPD_uc010xrs.1_Intron	NM_000285	NP_000276	P12955	PEPD_HUMAN	prolidase isoform 1	74					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			ovary(2)	2	Esophageal squamous(110;0.137)					GACACCGAACGCCCAGTGAAA	0.572												
KCTD15	79047	broad.mit.edu	37	19	34297866	34297866	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:34297866T>C	uc002nuy.3	+	5	609	c.341T>C	c.(340-342)CTG>CCG	p.L114P	KCTD15_uc002nuv.2_Missense_Mutation_p.L114P|KCTD15_uc002nuw.3_Missense_Mutation_p.L114P|KCTD15_uc010xrt.1_Missense_Mutation_p.L114P|KCTD15_uc002nux.3_Missense_Mutation_p.L114P	NM_001129994	NP_001123466	Q96SI1	KCD15_HUMAN	potassium channel tetramerisation domain	114	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	Esophageal squamous(110;0.162)					CGCTACGTCCTGAGCTTCCTG	0.537												
PDCD2L	84306	broad.mit.edu	37	19	34895868	34895868	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:34895868G>A	uc002nvj.2	+	3	342	c.309G>A	c.(307-309)GTG>GTA	p.V103V		NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	103						cytoplasm				ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GCCTGCAGGTGCCAGAGAGAG	0.582												
MLL4	9757	broad.mit.edu	37	19	36210710	36210710	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:36210710G>A	uc010eei.2	+	3	461	c.461G>A	c.(460-462)CGC>CAC	p.R154H		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	154					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGTCGGGGTCGCAAGCATAAG	0.557												
ZNF790	388536	broad.mit.edu	37	19	37310215	37310215	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:37310215C>A	uc002oew.2	-	5	1150	c.1031G>T	c.(1030-1032)GGG>GTG	p.G344V	uc002oev.1_Intron	NM_206894	NP_996777	Q6PG37	ZN790_HUMAN	zinc finger protein 790	344	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAAAGCTTTCCCACACTCCTT	0.383												
ZNF829	374899	broad.mit.edu	37	19	37383204	37383204	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:37383204C>A	uc002ofa.1	-	6	851	c.489G>T	c.(487-489)AAG>AAT	p.K163N	ZNF345_uc002oez.2_Intron	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	163	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATTAAAGGTCTTTCCACATA	0.368												
HKR1	284459	broad.mit.edu	37	19	37854119	37854119	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:37854119C>T	uc002ogb.2	+	6	1691	c.1422C>T	c.(1420-1422)TGC>TGT	p.C474C	HKR1_uc002ofx.2_Silent_p.C190C|HKR1_uc002ofy.2_Silent_p.C190C|HKR1_uc002oga.2_Silent_p.C456C|HKR1_uc010xto.1_Silent_p.C456C|HKR1_uc002ogc.2_Silent_p.C455C|HKR1_uc010xtp.1_Silent_p.C413C|HKR1_uc002ogd.2_Silent_p.C413C	NM_181786	NP_861451	P10072	HKR1_HUMAN	GLI-Kruppel family member HKR1	474	C2H2-type 7.				multicellular organismal development|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)			GCCTGGAGTGCGGGCAGTGCT	0.502												
ZNF607	84775	broad.mit.edu	37	19	38190221	38190221	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:38190221G>A	uc002ohc.1	-	5	1407	c.811C>T	c.(811-813)CAT>TAT	p.H271Y	ZNF607_uc002ohb.1_Missense_Mutation_p.H270Y	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	271	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ATACTCTGATGTACTTTAAGG	0.428												
SIPA1L3	23094	broad.mit.edu	37	19	38579399	38579399	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:38579399C>T	uc002ohk.2	+	4	2082	c.1573C>T	c.(1573-1575)CCA>TCA	p.P525S		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	525					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)			GAAGCTGGGGCCAGTGGCTGT	0.582												
GGN	199720	broad.mit.edu	37	19	38876201	38876201	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:38876201G>A	uc002oij.1	-	3	1836	c.1701C>T	c.(1699-1701)AGC>AGT	p.S567S	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Intron	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	567	Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).|Poly-Gly.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GAGAGGCCCCGCTGCCACCAC	0.657												
CLC	1178	broad.mit.edu	37	19	40225698	40225698	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:40225698C>T	uc002omh.2	-	2	107	c.31G>A	c.(31-33)GCT>ACT	p.A11T		NM_001828	NP_001819	Q05315	LPPL_HUMAN	Charcot-Leyden crystal protein	11	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding				0	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		AAAGAGGCAGCCTCTGTGTAT	0.547												
PSMC4	5704	broad.mit.edu	37	19	40480659	40480659	+	Silent	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:40480659C>A	uc002omq.2	+	6	634	c.597C>A	c.(595-597)CCC>CCA	p.P199P	PSMC4_uc002omr.2_Silent_p.P168P	NM_006503	NP_006494	P43686	PRS6B_HUMAN	proteasome 26S ATPase subunit 4 isoform 1	199					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			ovary(1)	1	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCGATCCCCCCCGAGGCGTCC	0.622												
SPTBN4	57731	broad.mit.edu	37	19	41060057	41060057	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:41060057T>C	uc002ony.2	+	23	4765	c.4679T>C	c.(4678-4680)CTG>CCG	p.L1560P	SPTBN4_uc002onx.2_Missense_Mutation_p.L1560P|SPTBN4_uc002onz.2_Missense_Mutation_p.L1560P|SPTBN4_uc010egx.2_Missense_Mutation_p.L303P|SPTBN4_uc010egy.1_Missense_Mutation_p.L236P|SPTBN4_uc002ooa.2_Missense_Mutation_p.L236P	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	1560	Spectrin 13.				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)			CCCCAGGGCCTGCGGCGGGAG	0.746												
HNRNPUL1	11100	broad.mit.edu	37	19	41778132	41778132	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:41778132G>T	uc002oqb.3	+	3	853	c.564G>T	c.(562-564)GAG>GAT	p.E188D	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.E88D|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.E88D|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.E188D|HNRNPUL1_uc002oqc.3_Missense_Mutation_p.E145D|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.E88D|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.E88D|HNRNPUL1_uc010eho.2_Missense_Mutation_p.E88D|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.E88D|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.E44D|HNRNPUL1_uc010ehl.1_Missense_Mutation_p.E88D	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	188					nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2						AGCACCGAGAGGATAGGAGGT	0.532												
DMRTC2	63946	broad.mit.edu	37	19	42352907	42352907	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:42352907G>A	uc002ors.2	+	5	575	c.492G>A	c.(490-492)TCG>TCA	p.S164S	DMRTC2_uc002orr.1_Silent_p.S41S|DMRTC2_uc010xwe.1_Silent_p.S164S	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	164	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0						CGGAAGCCTCGCCCTTGTCCT	0.647												
ATP1A3	478	broad.mit.edu	37	19	42482921	42482921	+	Silent	SNP	G	G	A	rs138797500		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:42482921G>A	uc002osg.2	-	12	1621	c.1467C>T	c.(1465-1467)AAC>AAT	p.N489N	ATP1A3_uc010xwf.1_Silent_p.N500N|ATP1A3_uc010xwg.1_Silent_p.N459N|ATP1A3_uc010xwh.1_Silent_p.N502N|ATP1A3_uc002osh.2_Silent_p.N489N	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	489	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						ATCGGTTGTCGTTGGGGTCCT	0.647												
ATP1A3	478	broad.mit.edu	37	19	42492106	42492106	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:42492106G>A	uc002osg.2	-	4	493	c.339C>T	c.(337-339)GAC>GAT	p.D113D	ATP1A3_uc010xwf.1_Silent_p.D124D|ATP1A3_uc010xwg.1_Silent_p.D83D|ATP1A3_uc010xwh.1_Silent_p.D126D|ATP1A3_uc002osh.2_Silent_p.D113D	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	113	Extracellular (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						CAGAGGGGTCGTCCTCGGTGC	0.587												
SYMPK	8189	broad.mit.edu	37	19	46332457	46332457	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:46332457T>C	uc002pdn.2	-	14	2001	c.1756A>G	c.(1756-1758)ATA>GTA	p.I586V	SYMPK_uc002pdo.1_Missense_Mutation_p.I586V|SYMPK_uc002pdp.1_Missense_Mutation_p.I586V	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	586					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		AGGATCTTTATGCGGACCTGG	0.632												
PPP5C	5536	broad.mit.edu	37	19	46888085	46888085	+	Silent	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:46888085C>A	uc002pem.2	+	7	883	c.823C>A	c.(823-825)CGA>AGA	p.R275R	PPP5C_uc010xya.1_Silent_p.R142R|PPP5C_uc002pen.2_Silent_p.R253R|PPP5C_uc010xyb.1_Silent_p.R133R	NM_006247	NP_006238	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	275	Catalytic.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			lung(1)|pancreas(1)	2		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		CTTTGTGGACCGAGGCTCCTT	0.547												
CCDC8	83987	broad.mit.edu	37	19	46915402	46915402	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:46915402G>A	uc002pep.2	-	1	1518	c.666C>T	c.(664-666)GGC>GGT	p.G222G		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	222						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GCCGGGCCTCGCCCACCCCGG	0.701												
TMEM143	55260	broad.mit.edu	37	19	48866695	48866695	+	Silent	SNP	C	C	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:48866695C>G	uc002pix.1	-	2	126	c.117G>C	c.(115-117)GGG>GGC	p.G39G	TMEM143_uc002piw.1_RNA|TMEM143_uc002piy.1_Silent_p.G39G|TMEM143_uc010xzn.1_Silent_p.G39G|TMEM143_uc010elw.1_Silent_p.G39G|TMEM143_uc010xzo.1_Intron|TMEM143_uc010xzp.1_Silent_p.G39G|TMEM143_uc010xzq.1_Silent_p.G39G|SYNGR4_uc002piz.2_5'Flank	NM_018273	NP_060743	Q96AN5	TM143_HUMAN	transmembrane protein 143	39						integral to membrane|mitochondrion					0		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		CCCGGGGGGGCCCGAGGAGCG	0.677												
KCNJ14	3770	broad.mit.edu	37	19	48965204	48965204	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:48965204A>C	uc002pje.1	+	2	628	c.223A>C	c.(223-225)AGC>CGC	p.S75R	KCNJ14_uc002pjf.1_Missense_Mutation_p.S75R	NM_013348	NP_037480	Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel J14	75	Cytoplasmic (By similarity).					voltage-gated potassium channel complex	inward rectifier potassium channel activity			skin(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		GCGCTACCTGAGCGACCTGTT	0.662												
PPP1R15A	23645	broad.mit.edu	37	19	49377689	49377689	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:49377689A>G	uc002pky.3	+	2	1468	c.1199A>G	c.(1198-1200)GAG>GGG	p.E400G		NM_014330	NP_055145	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	400	4 X 34 AA approximate repeats.|Glu-rich.|2.|Interaction with SMAD7.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			lung(1)	1		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		ACAGAGGAGGAGGAAGATGAG	0.537												
KCNA7	3743	broad.mit.edu	37	19	49573562	49573562	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:49573562G>C	uc002pmg.2	-	2	1485	c.1129C>G	c.(1129-1131)CTG>GTG	p.L377V		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related	377	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)	1		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		ATGGCACACAGAGAGCCCACT	0.557												
KCNA7	3743	broad.mit.edu	37	19	49575520	49575520	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:49575520T>G	uc002pmg.2	-	1	679	c.323A>C	c.(322-324)GAG>GCG	p.E108A		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related	108						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)	1		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		GCCCTCGTCCTCGCGCAGGCG	0.761												
SCAF1	58506	broad.mit.edu	37	19	50148366	50148366	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:50148366C>T	uc002poq.2	+	2	207	c.83C>T	c.(82-84)ACG>ATG	p.T28M		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	28					mRNA processing|RNA splicing	nucleus	RNA binding				0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		AGAGACCCCACGCTTTCTCCT	0.632												
AP2A1	160	broad.mit.edu	37	19	50302683	50302683	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:50302683G>A	uc002ppn.2	+	9	1276	c.1065G>A	c.(1063-1065)ACG>ACA	p.T355T	AP2A1_uc010enj.1_RNA|AP2A1_uc002ppo.2_Silent_p.T355T|AP2A1_uc002ppp.1_5'Flank	NM_014203	NP_055018	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1	355					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		GCATGTGCACGCTGGCCAGCT	0.642												
ZNF432	9668	broad.mit.edu	37	19	52538109	52538109	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:52538109G>A	uc002pyk.2	-	5	1141	c.823C>T	c.(823-825)CGT>TGT	p.R275C		NM_014650	NP_055465	O94892	ZN432_HUMAN	zinc finger protein 432	275	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|pancreas(1)	3		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCAATCAGACGGCTCTTCATA	0.393												
NLRP12	91662	broad.mit.edu	37	19	54314259	54314259	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:54314259C>T	uc002qch.3	-	3	874	c.654G>A	c.(652-654)GCG>GCA	p.A218A	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.A218A|NLRP12_uc002qcj.3_Silent_p.A218A|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.A218A	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	218	NACHT.|ATP (Potential).				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTATCCCTGCCGCGCCTTGCA	0.592												
EPS8L1	54869	broad.mit.edu	37	19	55593853	55593853	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:55593853C>T	uc002qis.3	+	12	1201	c.1097C>T	c.(1096-1098)GCG>GTG	p.A366V	EPS8L1_uc010ess.1_Missense_Mutation_p.A348V|EPS8L1_uc010est.1_Missense_Mutation_p.A366V|EPS8L1_uc010yfr.1_Missense_Mutation_p.A302V|EPS8L1_uc010esu.1_RNA|EPS8L1_uc002qiu.2_Missense_Mutation_p.A239V|EPS8L1_uc002qiv.2_Missense_Mutation_p.A12V|EPS8L1_uc002qiw.2_Missense_Mutation_p.A113V	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	epidermal growth factor receptor pathway	366						cytoplasm					0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCGGAGTTCGCGAGCAGTGTG	0.657												
ZNF628	89887	broad.mit.edu	37	19	55995118	55995118	+	Missense_Mutation	SNP	C	C	T	rs151142470	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:55995118C>T	uc002qld.2	+	3	3111	c.2546C>T	c.(2545-2547)ACG>ATG	p.T849M	NAT14_uc002qle.1_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	849	3.|4 X approximate tandem repeats.					nucleus	DNA binding|zinc ion binding				0	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GAAGTAACCACGGTCCAGCTC	0.657												
NLRP4	147945	broad.mit.edu	37	19	56379209	56379209	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:56379209T>C	uc002qmd.3	+	6	2743	c.2321T>C	c.(2320-2322)CTG>CCG	p.L774P	NLRP4_uc002qmf.2_Missense_Mutation_p.L699P|NLRP4_uc010etf.2_Intron	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	774	LRR 4.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGTGAAGCCCTGTGCAGCCCA	0.537												
ZFP28	140612	broad.mit.edu	37	19	57065621	57065621	+	Silent	SNP	A	A	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:57065621A>T	uc002qnj.2	+	8	1538	c.1467A>T	c.(1465-1467)ACA>ACT	p.T489T	uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	zinc finger protein 28	489	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		TACAGAACACATCCCTTATCC	0.478												
ZNF71	58491	broad.mit.edu	37	19	57133351	57133351	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:57133351C>T	uc002qnm.3	+	3	934	c.696C>T	c.(694-696)CAC>CAT	p.H232H		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	232	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		TCACCCAGCACGAGCGGATCC	0.642												
AURKC	6795	broad.mit.edu	37	19	57746748	57746748	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:57746748G>A	uc002qoe.2	+	7	1082	c.893G>A	c.(892-894)CGA>CAA	p.R298Q	AURKC_uc002qoc.2_Missense_Mutation_p.R279Q|AURKC_uc002qod.2_Missense_Mutation_p.R264Q|AURKC_uc010etv.2_Missense_Mutation_p.R295Q	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN	aurora kinase C isoform 1	298					cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			lung(4)|ovary(2)	6		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		GCCCACTCCCGAAGGGTGCTG	0.617												
ZNF772	400720	broad.mit.edu	37	19	57987127	57987127	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:57987127C>T	uc002qot.2	-	3	361	c.100G>A	c.(100-102)GTG>ATG	p.V34M	ZNF547_uc002qpm.3_Intron|ZNF772_uc010ygy.1_Missense_Mutation_p.V34M|ZNF772_uc010ygz.1_Intron|ZNF772_uc010yha.1_Missense_Mutation_p.V21M|ZNF772_uc002qou.2_Intron	NM_001024596	NP_001019767	Q68DY9	ZN772_HUMAN	zinc finger protein 772 isoform 1	34	KRAB.				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)		GAGAAGTACACGAACACGTCC	0.567												
ZNF154	7710	broad.mit.edu	37	19	58213887	58213887	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:58213887C>T	uc010euf.2	-	3	670	c.430G>A	c.(430-432)GGT>AGT	p.G144S	ZNF776_uc002qpx.2_Intron|ZNF154_uc002qpy.2_RNA	NM_001085384	NP_001078853	Q13106	ZN154_HUMAN	zinc finger protein 154	144	C2H2-type 2; degenerate.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|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;0.0257)		GTGTGTTTACCGCTGAATGCT	0.443												
ZNF552	79818	broad.mit.edu	37	19	58320008	58320008	+	Silent	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:58320008T>C	uc002qqg.2	-	3	794	c.624A>G	c.(622-624)GGA>GGG	p.G208G	ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.1_Silent_p.G204G	NM_024762	NP_079038	Q9H707	ZN552_HUMAN	zinc finger protein 552	208					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)		AATGGCTTTTTCCCCCATGAA	0.463												
ZNF418	147686	broad.mit.edu	37	19	58438151	58438151	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:58438151C>T	uc002qqs.1	-	4	1690	c.1398G>A	c.(1396-1398)AAG>AAA	p.K466K	ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Silent_p.K381K	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	zinc finger protein 418	466	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TGAGGTGGGACTTGCCCCTAA	0.443												
ZBTB45	84878	broad.mit.edu	37	19	59025430	59025430	+	Silent	SNP	A	A	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:59025430A>C	uc002qtd.2	-	3	1819	c.1527T>G	c.(1525-1527)CCT>CCG	p.P509P	SLC27A5_uc002qtc.2_5'Flank|ZBTB45_uc002qte.2_Silent_p.P509P|ZBTB45_uc002qtf.2_Silent_p.P509P	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	509					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)		ATCAGGGCGCAGGGTGCGCCG	0.766												
ASAP2	8853	broad.mit.edu	37	2	9525431	9525431	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:9525431C>T	uc002qzh.2	+	21	2414	c.2074C>T	c.(2074-2076)CGA>TGA	p.R692*	ASAP2_uc002qzi.2_Nonsense_Mutation_p.R692*	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	692					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						ATATGAATGGCGACTACTCCA	0.453												
GREB1	9687	broad.mit.edu	37	2	11736258	11736258	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:11736258T>C	uc002rbk.1	+	13	2147	c.1847T>C	c.(1846-1848)CTG>CCG	p.L616P	GREB1_uc002rbo.1_Missense_Mutation_p.L250P	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	616						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)		GACATTTTGCTGGACAAATTT	0.378												
ITSN2	50618	broad.mit.edu	37	2	24521655	24521655	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:24521655C>T	uc002rfe.2	-	13	1631	c.1373G>A	c.(1372-1374)CGT>CAT	p.R458H	ITSN2_uc002rff.2_Missense_Mutation_p.R458H|ITSN2_uc002rfg.2_Missense_Mutation_p.R458H|ITSN2_uc010eyd.2_Missense_Mutation_p.R483H	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	458	Potential.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTAAGCGACGTTGTCGTTC	0.338												
ASXL2	55252	broad.mit.edu	37	2	25965592	25965592	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:25965592G>A	uc002rgs.2	-	12	3835	c.3614C>T	c.(3613-3615)GCT>GTT	p.A1205V	ASXL2_uc002rgt.1_Missense_Mutation_p.A688V	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	1205					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)					ACCCTTGCCAGCACTCTGGGA	0.483												
KIF3C	3797	broad.mit.edu	37	2	26178514	26178514	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:26178514T>A	uc002rgu.2	-	3	2323	c.1666A>T	c.(1666-1668)ATG>TTG	p.M556L	KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.M556L	NM_002254	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	556	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)					TCCTGCTGCATCTCCCGCTCA	0.592												
KIF3C	3797	broad.mit.edu	37	2	26178519	26178519	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:26178519C>T	uc002rgu.2	-	3	2318	c.1661G>A	c.(1660-1662)CGG>CAG	p.R554Q	KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.R554Q	NM_002254	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	554	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)					CTGCATCTCCCGCTCACGACG	0.597												
HADHB	3032	broad.mit.edu	37	2	26492864	26492864	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:26492864A>T	uc002rgz.2	+	5	504	c.253A>T	c.(253-255)ACG>TCG	p.T85S	HADHB_uc010ykv.1_Missense_Mutation_p.T63S|HADHB_uc010ykw.1_Intron|HADHB_uc002rha.2_Missense_Mutation_p.T85S|HADHB_uc010ykx.1_Missense_Mutation_p.T11S	NM_000183	NP_000174	P55084	ECHB_HUMAN	mitochondrial trifunctional protein, beta	85					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCAGCGCTTACGTAAGTAAA	0.348												
C2orf18	54978	broad.mit.edu	37	2	26998046	26998046	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:26998046G>A	uc002rhp.1	+	3	361	c.285G>A	c.(283-285)GCG>GCA	p.A95A	C2orf18_uc002rhq.1_Intron|C2orf18_uc010eyo.1_Silent_p.A42A|C2orf18_uc010ylc.1_Intron	NM_017877	NP_060347	Q8N357	CB018_HUMAN	ANT2-binding protein precursor	95	Helical; (Potential).					integral to membrane|lysosomal membrane					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCCCCAGCGCTCTGTGACA	0.602												
ABHD1	84696	broad.mit.edu	37	2	27351875	27351875	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:27351875G>A	uc002rit.2	+	3	498	c.338G>A	c.(337-339)AGC>AAC	p.S113N	ABHD1_uc002riu.2_RNA|ABHD1_uc002riv.2_RNA	NM_032604	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain-containing protein 1	113						integral to membrane	carboxylesterase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCCTGACAGCAGCCAAGAC	0.522												
HEATR5B	54497	broad.mit.edu	37	2	37241024	37241024	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:37241024G>A	uc002rpp.1	-	27	4340	c.4244C>T	c.(4243-4245)ACG>ATG	p.T1415M	HEATR5B_uc010ezy.1_Translation_Start_Site|HEATR5B_uc002rpq.3_Translation_Start_Site	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1415							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				TTCCATGGTCGTGGCACTCTC	0.443												
TMEM178	130733	broad.mit.edu	37	2	39944310	39944310	+	Silent	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:39944310T>C	uc002rrt.2	+	4	838	c.813T>C	c.(811-813)GCT>GCC	p.A271A	TMEM178_uc010fam.1_Silent_p.A225A	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	transmembrane protein 178 precursor	271	Helical; (Potential).					integral to membrane					0		all_hematologic(82;0.248)				TTGTGGCAGCTGGAGGTCTCT	0.512												
MSH6	2956	broad.mit.edu	37	2	48026138	48026138	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:48026138C>A	uc002rwd.3	+	4	1168	c.1016C>A	c.(1015-1017)GCT>GAT	p.A339D	MSH6_uc002rwc.2_Missense_Mutation_p.A339D|MSH6_uc010fbj.2_Missense_Mutation_p.A37D|MSH6_uc010yoi.1_Missense_Mutation_p.A209D|MSH6_uc010yoj.1_Missense_Mutation_p.A37D	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	339					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding			large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACTTTGAGAGCTTTCTCTGCC	0.448			Mis|N|F|S		colorectal	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome			
LHCGR	3973	broad.mit.edu	37	2	48915426	48915426	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:48915426C>T	uc002rwu.3	-	11	1580	c.1510G>A	c.(1510-1512)GGT>AGT	p.G504S	GTF2A1L_uc002rwt.2_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	504	Helical; Name=4; (Potential).				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			ovary(3)|lung(2)|breast(2)|skin(1)	8		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TTGCTGACACCGACAAGGGGC	0.428									Familial_Male-Limited_Precocious_Puberty			
GPR75	10936	broad.mit.edu	37	2	54080276	54080276	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:54080276C>T	uc002rxo.3	-	2	1889	c.1618G>A	c.(1618-1620)GTT>ATT	p.V540I	ASB3_uc002rxi.3_Intron	NM_006794	NP_006785	O95800	GPR75_HUMAN	G protein-coupled receptor 75	540	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|skin(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGACTTTAAACGGAGGGGACT	0.393												
MXD1	4084	broad.mit.edu	37	2	70164409	70164409	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:70164409C>T	uc002sfy.2	+	5	621	c.361C>T	c.(361-363)CAG>TAG	p.Q121*	MXD1_uc010yqp.1_Nonsense_Mutation_p.Q121*|MXD1_uc010yqq.1_Nonsense_Mutation_p.Q58*|MXD1_uc010yqr.1_RNA|MXD1_uc010yqs.1_Nonsense_Mutation_p.Q111*	NM_002357	NP_002348	Q05195	MAD1_HUMAN	MAX dimerization protein 1	121					cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0						CCAAATCGACCAGCTTCAGCG	0.552												
ASPRV1	151516	broad.mit.edu	37	2	70188638	70188638	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:70188638C>T	uc002sfz.3	-	1	760	c.183G>A	c.(181-183)GCG>GCA	p.A61A		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1 precursor	61	Helical; (Potential).				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			ovary(1)	1						GCAGTGTCGGCGCAATCACGC	0.642												
DYSF	8291	broad.mit.edu	37	2	71894590	71894590	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:71894590C>T	uc002sie.2	+	47	5661	c.5285C>T	c.(5284-5286)CCG>CTG	p.P1762L	DYSF_uc010feg.2_Missense_Mutation_p.P1793L|DYSF_uc010feh.2_Missense_Mutation_p.P1769L|DYSF_uc002sig.3_Missense_Mutation_p.P1748L|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.P1783L|DYSF_uc010fef.2_Missense_Mutation_p.P1800L|DYSF_uc010fei.2_Missense_Mutation_p.P1779L|DYSF_uc010fek.2_Missense_Mutation_p.P1780L|DYSF_uc010fej.2_Missense_Mutation_p.P1770L|DYSF_uc010fel.2_Missense_Mutation_p.P1749L|DYSF_uc010feo.2_Missense_Mutation_p.P1794L|DYSF_uc010fem.2_Missense_Mutation_p.P1784L|DYSF_uc010fen.2_Missense_Mutation_p.P1801L|DYSF_uc002sif.2_Missense_Mutation_p.P1763L|DYSF_uc010yqy.1_Missense_Mutation_p.P643L|DYSF_uc010yqz.1_Missense_Mutation_p.P523L	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1762	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						GGCCTGGTCCCGGAGCACGTG	0.637												
EGR4	1961	broad.mit.edu	37	2	73518943	73518943	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:73518943G>A	uc010yrj.1	-	2	1487	c.1412C>T	c.(1411-1413)ACG>ATG	p.T471M	EGR4_uc010yrk.1_Missense_Mutation_p.T470M	NM_001965	NP_001956	Q05215	EGR4_HUMAN	early growth response 4	367						intracellular	nucleic acid binding|zinc ion binding				0						GAAGCAGCGCGTGCTGCATTT	0.726												
ALMS1	7840	broad.mit.edu	37	2	73677057	73677057	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:73677057G>A	uc002sje.1	+	10	3517	c.3406G>A	c.(3406-3408)GGC>AGC	p.G1136S	ALMS1_uc002sjf.1_Missense_Mutation_p.G1092S|ALMS1_uc002sjg.2_Missense_Mutation_p.G522S|ALMS1_uc002sjh.1_Missense_Mutation_p.G522S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1134	34 X 47 AA approximate tandem repeat.|13.				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						CCAGAAGACTGGCACACCAAC	0.483												
DCTN1	1639	broad.mit.edu	37	2	74597938	74597938	+	Silent	SNP	C	C	T	rs151107870		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:74597938C>T	uc002skx.2	-	10	1169	c.858G>A	c.(856-858)GCG>GCA	p.A286A	DCTN1_uc002skv.2_Silent_p.A152A|DCTN1_uc002sku.2_Silent_p.A152A|DCTN1_uc002skw.1_Silent_p.A262A|DCTN1_uc010ffd.2_Silent_p.A266A|DCTN1_uc002sky.2_Silent_p.A249A	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	286	Potential.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						TTGCCTCCAGCGCCTCCTTGG	0.567												
LOXL3	84695	broad.mit.edu	37	2	74761465	74761465	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:74761465G>A	uc002smp.1	-	11	1989	c.1917C>T	c.(1915-1917)CTC>CTT	p.L639L	LOXL3_uc002smo.1_Silent_p.L278L|LOXL3_uc010ffm.1_Silent_p.L583L|LOXL3_uc002smq.1_Silent_p.L494L|LOXL3_uc010ffn.1_Silent_p.L494L	NM_032603	NP_115992	P58215	LOXL3_HUMAN	lysyl oxidase-like 3 precursor	639	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity				0						CAGTGTCTTCGAGACAGAAAC	0.507												
REG1A	5967	broad.mit.edu	37	2	79348754	79348754	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:79348754G>A	uc002snz.2	+	3	234	c.131G>A	c.(130-132)CGC>CAC	p.R44H	REG1A_uc010ffx.1_Missense_Mutation_p.R44H|REG1A_uc010ysd.1_Missense_Mutation_p.R44H	NM_002909	NP_002900	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha precursor	44	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding				0						AATGCCTATCGCTCCTACTGC	0.537												
MAT2A	4144	broad.mit.edu	37	2	85769750	85769750	+	Silent	SNP	T	T	C	rs144914741	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:85769750T>C	uc002spr.2	+	7	954	c.831T>C	c.(829-831)CAT>CAC	p.H277H	MAT2A_uc010ysr.1_Silent_p.H277H|MAT2A_uc010fgk.2_Silent_p.H251H|MAT2A_uc010fgl.2_Silent_p.H214H	NM_005911	NP_005902	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	277					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GGGGTGCTCATGGAGGAGGTG	0.478												
EIF2AK3	9451	broad.mit.edu	37	2	88892797	88892797	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:88892797T>C	uc002stc.3	-	4	962	c.760A>G	c.(760-762)AAT>GAT	p.N254D		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	254	Lumenal (Potential).				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						CACTTCTCATTGCCACTGCGA	0.393												
ADRA2B	151	broad.mit.edu	37	2	96781451	96781451	+	Silent	SNP	C	C	T	rs13306147		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:96781451C>T	uc002svi.2	-	1	438	c.438G>A	c.(436-438)CCG>CCA	p.P146P		NM_000682	NP_000673	P18089	ADA2B_HUMAN	alpha-2B-adrenergic receptor	146	Helical; Name=4; (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			ovary(2)|lung(1)	3					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	AGATGAGGGGCGGCAGCGAGA	0.677												
C2orf55	343990	broad.mit.edu	37	2	99413824	99413824	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:99413824C>T	uc002szf.1	-	8	2887	c.2593G>A	c.(2593-2595)GAG>AAG	p.E865K		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	865											0						TGGCCTCTCTCGGGCACCTTG	0.612												
IL1RL2	8808	broad.mit.edu	37	2	102805670	102805670	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:102805670G>A	uc002tbs.2	+	3	319	c.193G>A	c.(193-195)GTG>ATG	p.V65M	IL1RL2_uc002tbt.2_Intron	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2 precursor	65	Extracellular (Potential).|Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			ovary(2)	2						CAAAATCCCAGTGTCCAAAAT	0.413												
NCK2	8440	broad.mit.edu	37	2	106497989	106497989	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:106497989C>G	uc002tdg.2	+	4	874	c.432C>G	c.(430-432)TGC>TGG	p.C144W	NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Missense_Mutation_p.C144W	NM_003581	NP_003572	O43639	NCK2_HUMAN	NCK adaptor protein 2 isoform A	144	SH3 2.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			ovary(1)|lung(1)	2						TGGAGAAGTGCAGCGACGGTT	0.637												
ST6GAL2	84620	broad.mit.edu	37	2	107446579	107446579	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:107446579T>C	uc002tdq.2	-	5	1380	c.1261A>G	c.(1261-1263)ATC>GTC	p.I421V	ST6GAL2_uc002tdr.2_Missense_Mutation_p.I421V|ST6GAL2_uc002tds.3_Missense_Mutation_p.I421V	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	421	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						TTCTCCTGGATAATATCCCAG	0.393												
EDAR	10913	broad.mit.edu	37	2	109524475	109524475	+	Silent	SNP	G	G	A	rs143674939		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:109524475G>A	uc002teq.3	-	10	1235	c.804C>T	c.(802-804)AGC>AGT	p.S268S	EDAR_uc010fjn.2_Silent_p.S300S|EDAR_uc010yws.1_Silent_p.S300S	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor precursor	268	Cytoplasmic (Potential).				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			skin(1)	1						CATCGTTCTCGCTGCAAAAAC	0.607												
PSD4	23550	broad.mit.edu	37	2	113950132	113950132	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:113950132C>T	uc002tjc.2	+	6	1987	c.1804C>T	c.(1804-1806)CGG>TGG	p.R602W	PSD4_uc002tjd.2_Missense_Mutation_p.R223W|PSD4_uc002tje.2_Missense_Mutation_p.R573W|PSD4_uc002tjf.2_Missense_Mutation_p.R223W	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	602	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						GGAGGGCTTCCGGAAGTCTGA	0.597												
DDX18	8886	broad.mit.edu	37	2	118583858	118583858	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:118583858G>A	uc002tlh.1	+	11	1634	c.1535G>A	c.(1534-1536)CGT>CAT	p.R512H		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	512	Helicase C-terminal.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|ovary(1)|lung(1)	4						TATATTCATCGTGTGGGTAGA	0.458												
STEAP3	55240	broad.mit.edu	37	2	120005432	120005432	+	Missense_Mutation	SNP	G	G	A	rs139584756	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:120005432G>A	uc002tlp.2	+	4	827	c.670G>A	c.(670-672)GTC>ATC	p.V224I	STEAP3_uc002tlq.2_Missense_Mutation_p.V234I|STEAP3_uc002tlr.2_Missense_Mutation_p.V224I|STEAP3_uc010fle.2_Missense_Mutation_p.V224I	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	224	Helical; (Potential).				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			central_nervous_system(2)|skin(1)	3						GGGGCTCTTCGTCTGCTTCTA	0.632												
INHBB	3625	broad.mit.edu	37	2	121107175	121107175	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:121107175T>C	uc002tmn.2	+	2	995	c.949T>C	c.(949-951)TGG>CGG	p.W317R		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	317					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			pancreas(2)|skin(1)	3		Prostate(154;0.122)				CCTCATCGGCTGGAACGACTG	0.622												
GLI2	2736	broad.mit.edu	37	2	121744020	121744020	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:121744020C>T	uc010flp.2	+	12	2153	c.2123C>T	c.(2122-2124)GCC>GTC	p.A708V	GLI2_uc002tmq.1_Missense_Mutation_p.A380V|GLI2_uc002tmr.1_Missense_Mutation_p.A363V|GLI2_uc002tmt.3_Missense_Mutation_p.A380V|GLI2_uc002tmu.3_Missense_Mutation_p.A363V|GLI2_uc002tmw.1_Missense_Mutation_p.A691V	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	708					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				GACACCTCAGCCCTGGCTGCC	0.652												
SAP130	79595	broad.mit.edu	37	2	128700069	128700069	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:128700069G>A	uc002tpp.2	-	19	3049	c.2917C>T	c.(2917-2919)CAG>TAG	p.Q973*	SAP130_uc002tpn.2_Nonsense_Mutation_p.Q733*|SAP130_uc002tpo.2_Nonsense_Mutation_p.Q753*|SAP130_uc010fmd.2_Nonsense_Mutation_p.Q1008*	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	973	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ATCCCTTCCTGCAGGTTAGTA	0.423												
UGGT1	56886	broad.mit.edu	37	2	128865513	128865513	+	Silent	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:128865513T>C	uc002tps.2	+	4	457	c.279T>C	c.(277-279)GGT>GGC	p.G93G	UGGT1_uc010fme.1_Intron|UGGT1_uc002tpr.2_Silent_p.G69G	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	93					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1						CCTTGACAGGTACCGATTATT	0.378												
NCKAP5	344148	broad.mit.edu	37	2	133543248	133543248	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:133543248G>A	uc002ttp.2	-	14	1510	c.1136C>T	c.(1135-1137)TCG>TTG	p.S379L	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	379	Ser-rich.						protein binding				0						ACTTGGGAGCGAAGAATCAAT	0.388												
MGAT5	4249	broad.mit.edu	37	2	135102526	135102526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:135102526C>T	uc002ttv.1	+	8	1148	c.1003C>T	c.(1003-1005)CGA>TGA	p.R335*		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	335	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TGTAGGAAACCGATCTGGCTG	0.388												
LCT	3938	broad.mit.edu	37	2	136561685	136561685	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:136561685T>C	uc002tuu.1	-	11	4489	c.4478A>G	c.(4477-4479)CAC>CGC	p.H1493R		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1493	Extracellular (Potential).|4.|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		TAGGTCCCAGTGGTAAATGGT	0.532												
LCT	3938	broad.mit.edu	37	2	136566693	136566693	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:136566693C>T	uc002tuu.1	-	8	3235	c.3224G>A	c.(3223-3225)GGC>GAC	p.G1075D		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1075	3.|Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTCCCCTGAGCCATAACCTAG	0.507												
LRP1B	53353	broad.mit.edu	37	2	141625218	141625218	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:141625218T>C	uc002tvj.1	-	27	5492	c.4520A>G	c.(4519-4521)CAG>CGG	p.Q1507R	LRP1B_uc010fnl.1_Missense_Mutation_p.Q689R	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1507	Extracellular (Potential).|LDL-receptor class B 13.				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)		ACTGGTTTTCTGAATCACACT	0.473										TSP Lung(27;0.18)		
RND3	390	broad.mit.edu	37	2	151326739	151326739	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:151326739G>A	uc002txe.2	-	5	741	c.497C>T	c.(496-498)GCC>GTC	p.A166V	RND3_uc002txf.2_Missense_Mutation_p.A165V|RND3_uc002txg.2_Missense_Mutation_p.A166V|RND3_uc010zbv.1_Intron|RND3_uc010zbw.1_Intron	NM_005168	NP_005159	P61587	RND3_HUMAN	ras homolog gene family, member E precursor	166					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.106)		AATCTGTTTGGCCATATTTGC	0.403												
RIF1	55183	broad.mit.edu	37	2	152273371	152273371	+	Silent	SNP	G	G	A	rs149505451	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:152273371G>A	uc002txm.2	+	6	589	c.459G>A	c.(457-459)ACG>ACA	p.T153T	RIF1_uc002txl.2_Silent_p.T153T|RIF1_uc010fnv.1_Silent_p.T117T|RIF1_uc002txn.2_Silent_p.T153T|RIF1_uc002txo.2_Silent_p.T153T|RIF1_uc010zby.1_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	153					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAGGAGAGACGCATTCTGCTG	0.299												
NEB	4703	broad.mit.edu	37	2	152476209	152476209	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:152476209T>C	uc010fnx.2	-	69	10090	c.9899A>G	c.(9898-9900)GAC>GGC	p.D3300G		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3300	Nebulin 90.				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)		TATCTTGGGGTCATCGTGTAC	0.448												
NEB	4703	broad.mit.edu	37	2	152500546	152500546	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:152500546G>A	uc010fnx.2	-	57	7933	c.7742C>T	c.(7741-7743)GCC>GTC	p.A2581V		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2581	Nebulin 69.				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)		CTGGATCTTGGCCACATGCAT	0.527												
CYTIP	9595	broad.mit.edu	37	2	158272530	158272530	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:158272530T>C	uc002tzj.1	-	8	811	c.739A>G	c.(739-741)AAG>GAG	p.K247E	CYTIP_uc010zcl.1_Missense_Mutation_p.K141E	NM_004288	NP_004279	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	247	Ser-rich.				regulation of cell adhesion	cell cortex|early endosome	protein binding			ovary(1)|kidney(1)|skin(1)	3						AGCCAGCTCTTACAGCTGCTC	0.557												
PKP4	8502	broad.mit.edu	37	2	159499197	159499197	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:159499197G>T	uc002tzv.2	+	11	2155	c.1895G>T	c.(1894-1896)AGG>ATG	p.R632M	PKP4_uc002tzt.1_Missense_Mutation_p.R484M|PKP4_uc002tzu.2_Missense_Mutation_p.R632M|PKP4_uc002tzw.2_Missense_Mutation_p.R632M|PKP4_uc002tzx.2_Missense_Mutation_p.R289M|PKP4_uc002tzy.1_Missense_Mutation_p.R290M|PKP4_uc002tzz.1_Missense_Mutation_p.R630M|PKP4_uc002uaa.2_Missense_Mutation_p.R484M	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	632	ARM 4.				cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7						GCAGAAGTAAGGGAGCTTGTT	0.408										HNSCC(62;0.18)		
RBMS1	5937	broad.mit.edu	37	2	161223832	161223832	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:161223832C>T	uc002ubo.2	-	2	590	c.146G>A	c.(145-147)AGC>AAC	p.S49N	RBMS1_uc002ubj.2_Missense_Mutation_p.S16N|RBMS1_uc002ubk.2_Missense_Mutation_p.S16N|RBMS1_uc002ubl.2_Missense_Mutation_p.S47N|RBMS1_uc002ubn.2_Missense_Mutation_p.S49N|RBMS1_uc002ubi.3_Missense_Mutation_p.S49N|RBMS1_uc002ubm.2_Missense_Mutation_p.S16N|RBMS1_uc002ubp.2_Missense_Mutation_p.S49N|RBMS1_uc010fox.2_Missense_Mutation_p.S49N	NM_016836	NP_058520	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting	49					DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding				0						gctactgctgctactgttgtt	0.448												
TTC21B	79809	broad.mit.edu	37	2	166747406	166747406	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:166747406G>A	uc002udk.2	-	23	3176	c.3043C>T	c.(3043-3045)CGT>TGT	p.R1015C	TTC21B_uc002udj.1_RNA	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1015						cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5						CTGGAGTTACGTTTCTCAGCC	0.328												
NOSTRIN	115677	broad.mit.edu	37	2	169718513	169718513	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:169718513G>A	uc002ueg.2	+	15	1342	c.1338G>A	c.(1336-1338)TTG>TTA	p.L446L	NOSTRIN_uc002uef.2_Silent_p.L503L|NOSTRIN_uc002uei.2_Silent_p.L329L|NOSTRIN_uc010fpu.2_Silent_p.L418L|NOSTRIN_uc002ueh.2_Silent_p.L368L|NOSTRIN_uc002uej.2_Silent_p.L329L|NOSTRIN_uc002uek.2_Silent_p.L130L	NM_001039724	NP_001034813	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficker isoform 2	446	SH3.				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding				0						GCAAGGCCTTGTATTCTTTTC	0.403												
LRP2	4036	broad.mit.edu	37	2	170099926	170099926	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:170099926A>G	uc002ues.2	-	23	3750	c.3537T>C	c.(3535-3537)GAT>GAC	p.D1179D	LRP2_uc010zdf.1_Silent_p.D1042D	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1179	LDL-receptor class A 11.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AACCAACCTCATCAGATCCAT	0.328												
SP5	389058	broad.mit.edu	37	2	171572828	171572828	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:171572828C>T	uc002uge.2	+	2	277	c.111C>T	c.(109-111)GCC>GCT	p.A37A	LOC440925_uc002ugd.2_5'Flank	NM_001003845	NP_001003845	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CATTGCTGGCCGCCACCTGTA	0.612												
TTC30B	150737	broad.mit.edu	37	2	178416719	178416719	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:178416719G>A	uc002uln.2	-	1	806	c.773C>T	c.(772-774)GCA>GTA	p.A258V	TTC30B_uc010zfc.1_Missense_Mutation_p.A30V	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	258					cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			TTCTATAGCTGCCTTAAGGTT	0.527												
TTN	7273	broad.mit.edu	37	2	179397575	179397575	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:179397575C>A	uc010zfg.1	-	307	96287	c.96063G>T	c.(96061-96063)CAG>CAT	p.Q32021H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q25716H|TTN_uc010zfi.1_Missense_Mutation_p.Q25649H|TTN_uc010zfj.1_Missense_Mutation_p.Q25524H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32948							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)			TGGGTCGTTTCTGTACAACTC	0.448												
TTN	7273	broad.mit.edu	37	2	179416834	179416834	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:179416834G>A	uc010zfg.1	-	284	83313	c.83089C>T	c.(83089-83091)CGG>TGG	p.R27697W	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R21392W|TTN_uc010zfi.1_Missense_Mutation_p.R21325W|TTN_uc010zfj.1_Missense_Mutation_p.R21200W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28624							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)			GAAGTTTCCCGCTTCTCGATG	0.413												
TTN	7273	broad.mit.edu	37	2	179422586	179422586	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:179422586G>A	uc010zfg.1	-	277	80015	c.79791C>T	c.(79789-79791)GAC>GAT	p.D26597D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.D20292D|TTN_uc010zfi.1_Silent_p.D20225D|TTN_uc010zfj.1_Silent_p.D20100D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27524							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)			GACTTCCACCGTCATACTTAG	0.438												
TTN	7273	broad.mit.edu	37	2	179444665	179444665	+	Splice_Site	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:179444665C>T	uc010zfg.1	-	267	59868	c.59644_splice	c.e267+1	p.Q19882_splice	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Splice_Site_p.Q13577_splice|TTN_uc010zfi.1_Splice_Site_p.Q13510_splice|TTN_uc010zfj.1_Splice_Site_p.Q13385_splice|uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTTGCTTACGGGAAGCTTT	0.413												
TTN	7273	broad.mit.edu	37	2	179542346	179542346	+	Splice_Site	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:179542346A>G	uc010zfg.1	-	143	30783	c.30559_splice	c.e143+1	p.V10187_splice	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Splice_Site_p.V6848_splice|TTN_uc010fre.1_Intron|TTN_uc002una.1_Splice_Site|TTN_uc010frf.1_Splice_Site	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGCTGCTATACCTGGTGCAG	0.418												
TTN	7273	broad.mit.edu	37	2	179605782	179605782	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:179605782G>T	uc010zfh.1	-	46	11889	c.11665C>A	c.(11665-11667)CCC>ACC	p.P3889T	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.P3822T|TTN_uc010zfj.1_Missense_Mutation_p.P3697T|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	3829							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)			TCAACTGCGGGACCCTTTAAG	0.458												
TTN	7273	broad.mit.edu	37	2	179666960	179666960	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:179666960A>T	uc002und.2	-	3	425	c.200T>A	c.(199-201)ATC>AAC	p.I67N	TTN_uc010zfg.1_Missense_Mutation_p.I67N|TTN_uc010zfh.1_Missense_Mutation_p.I67N|TTN_uc010zfi.1_Missense_Mutation_p.I67N|TTN_uc010zfj.1_Missense_Mutation_p.I67N|TTN_uc002unb.2_Missense_Mutation_p.I67N			Q8WZ42	TITIN_HUMAN	Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.	67							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)			CACGGCGGGGATCGTCAGTTT	0.547												
ITGAV	3685	broad.mit.edu	37	2	187541976	187541976	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:187541976A>G	uc002upq.2	+	30	3380	c.3104A>G	c.(3103-3105)CAG>CGG	p.Q1035R	ITGAV_uc010frs.2_Missense_Mutation_p.Q999R|ITGAV_uc010zfv.1_Missense_Mutation_p.Q989R	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	1035	Cytoplasmic (Potential).				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GAAAGGGAGCAGCTTCAACCT	0.378												
DNAH7	56171	broad.mit.edu	37	2	196722261	196722261	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:196722261G>A	uc002utj.3	-	44	8355	c.8254C>T	c.(8254-8256)CTT>TTT	p.L2752F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2752	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TATTCATGAAGTGACTGCAGA	0.373												
SATB2	23314	broad.mit.edu	37	2	200246470	200246470	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:200246470G>A	uc002uuy.1	-	4	1237	c.420C>T	c.(418-420)GCC>GCT	p.A140A	SATB2_uc010fsq.1_Intron|SATB2_uc002uuz.1_Silent_p.A140A|SATB2_uc002uva.1_Silent_p.A140A	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	140						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GTAGCATGTCGGCCACTGTCG	0.463												
RAPH1	65059	broad.mit.edu	37	2	204304285	204304285	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:204304285G>A	uc002vad.2	-	14	3853	c.3628C>T	c.(3628-3630)CTG>TTG	p.L1210L		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	1210					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						TGATCAGACAGCAGTTCAGGG	0.567												
ABCA12	26154	broad.mit.edu	37	2	215809820	215809820	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:215809820C>T	uc002vew.2	-	49	7468	c.7248G>A	c.(7246-7248)CCG>CCA	p.P2416P	ABCA12_uc002vev.2_Silent_p.P2098P|ABCA12_uc010zjn.1_Silent_p.P1343P	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	2416	ABC transporter 2.				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)		TGCCAGAGCTCGGCTCATCCT	0.368												
ABCA12	26154	broad.mit.edu	37	2	215843717	215843717	+	Silent	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:215843717T>C	uc002vew.2	-	32	5008	c.4788A>G	c.(4786-4788)ACA>ACG	p.T1596T	ABCA12_uc002vev.2_Silent_p.T1278T|ABCA12_uc010zjn.1_Silent_p.T523T	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1596					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)		GGATCATTGCTGTCACGGCCA	0.443												
SMARCAL1	50485	broad.mit.edu	37	2	217280167	217280167	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:217280167G>A	uc002vgc.3	+	3	1070	c.740G>A	c.(739-741)CGT>CAT	p.R247H	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.R247H|SMARCAL1_uc010fvg.2_Missense_Mutation_p.R247H	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	247					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			ovary(3)|breast(3)|skin(1)	7		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AACGGCGATCGTTTCCAGGTG	0.468									Schimke_Immuno-Osseous_Dysplasia			
SLC11A1	6556	broad.mit.edu	37	2	219259385	219259385	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:219259385G>A	uc002vhv.2	+	14	1759	c.1419G>A	c.(1417-1419)ATG>ATA	p.M473I	SLC11A1_uc010zkc.1_Missense_Mutation_p.M406I|SLC11A1_uc002vhu.1_Missense_Mutation_p.M268I|SLC11A1_uc002vhw.2_Missense_Mutation_p.M355I|SLC11A1_uc010fvr.2_Missense_Mutation_p.M268I	NM_000578	NP_000569	P49279	NRAM1_HUMAN	natural resistance-associated macrophage protein	473	Helical; (Potential).				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			ovary(3)|central_nervous_system(1)	4		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCCATCATGGTGCTAGTCT	0.607												
STK36	27148	broad.mit.edu	37	2	219562280	219562280	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:219562280G>A	uc002viu.2	+	24	3122	c.2856G>A	c.(2854-2856)ATG>ATA	p.M952I	STK36_uc002viv.2_Missense_Mutation_p.M931I|STK36_uc002viw.2_Missense_Mutation_p.M130I|STK36_uc002vix.2_Missense_Mutation_p.V14I	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	952					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GTATCCTCATGTCCATCCTGA	0.582												
WNT6	7475	broad.mit.edu	37	2	219736229	219736229	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:219736229G>A	uc002vjc.1	+	3	539	c.324G>A	c.(322-324)GTG>GTA	p.V108V		NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family,	108					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			ovary(2)|skin(1)	3		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGCCTTCGTGTTCGCCATCA	0.612												
WNT10A	80326	broad.mit.edu	37	2	219745808	219745808	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:219745808C>T	uc002vjd.1	+	1	554	c.91C>T	c.(91-93)CTG>TTG	p.L31L		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family,	31					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			lung(1)|skin(1)	2		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCCTACTGCTGCTGGCTGC	0.711												
WNT10A	80326	broad.mit.edu	37	2	219754704	219754704	+	Splice_Site	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:219754704A>G	uc002vjd.1	+	3	840	c.377_splice	c.e3-2	p.G126_splice		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family,						anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			lung(1)|skin(1)	2		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTTAACCACAGGTTTCCGAG	0.378												
ACCN4	55515	broad.mit.edu	37	2	220396848	220396848	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:220396848C>T	uc002vma.2	+	3	1248	c.1234C>T	c.(1234-1236)CGG>TGG	p.R412W	ACCN4_uc010fwi.1_Missense_Mutation_p.R412W|ACCN4_uc010fwj.1_Missense_Mutation_p.R412W|ACCN4_uc002vly.1_Missense_Mutation_p.R412W|ACCN4_uc002vlz.2_Missense_Mutation_p.R412W|ACCN4_uc002vmb.2_Missense_Mutation_p.R66W	NM_182847	NP_878267	Q96FT7	ACCN4_HUMAN	amiloride-sensitive cation channel 4 isoform 2	412	Extracellular (Potential).					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity			ovary(2)	2		Renal(207;0.0183)		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)		CCAGGAACAGCGGGTGAGCAT	0.632												
INHA	3623	broad.mit.edu	37	2	220439886	220439886	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:220439886C>T	uc002vmk.1	+	2	883	c.739C>T	c.(739-741)CGC>TGC	p.R247C		NM_002191	NP_002182	P05111	INHA_HUMAN	inhibin alpha subunit precursor	247					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)		CTCTGCTCTGCGCCTGCTGCA	0.642												
SLC4A3	6508	broad.mit.edu	37	2	220500084	220500084	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:220500084C>T	uc002vmp.3	+	13	2107	c.1838C>T	c.(1837-1839)CCG>CTG	p.P613L	SLC4A3_uc002vmo.3_Missense_Mutation_p.P640L|SLC4A3_uc010fwm.2_Missense_Mutation_p.P163L|SLC4A3_uc010fwn.1_Missense_Mutation_p.P122L	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	613	Cytoplasmic.				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGATCCCCCCGTCCGAGGTG	0.612												
GPR55	9290	broad.mit.edu	37	2	231775249	231775249	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:231775249G>A	uc002vrg.2	-	2	622	c.429C>T	c.(427-429)TGC>TGT	p.C143C	GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Silent_p.C143C	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	143	Helical; Name=4; (Potential).				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		CCCAGATGGTGCAGCAGATCC	0.527												
ALPPL2	251	broad.mit.edu	37	2	233274566	233274566	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:233274566C>T	uc002vss.3	+	11	1636	c.1583C>T	c.(1582-1584)ACG>ATG	p.T528M		NM_031313	NP_112603	P10696	PPBN_HUMAN	placental-like alkaline phosphatase	528					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			skin(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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CTGCTGGGGACGGCCACTGCT	0.736												
ECEL1	9427	broad.mit.edu	37	2	233349233	233349233	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:233349233G>A	uc002vsv.2	-	6	1338	c.1133C>T	c.(1132-1134)GCG>GTG	p.A378V	ECEL1_uc010fya.1_Missense_Mutation_p.A378V|ECEL1_uc010fyb.1_Missense_Mutation_p.A85V	NM_004826	NP_004817	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	378	Lumenal (Potential).				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)	2		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;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GTAGTCTGTCGCCAGCAGCAC	0.582												
UGT1A1	54658	broad.mit.edu	37	2	234668982	234668982	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:234668982C>T	uc002vvb.2	+	1	64	c.49C>T	c.(49-51)CTG>TTG	p.L17L	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Silent_p.L17L	NM_000463	NP_000454	P22309	UD11_HUMAN	UDP glycosyltransferase 1 family, polypeptide A1	17					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			central_nervous_system(1)|skin(1)	2		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GGGCCTGCTGCTGTGTGTGCT	0.592											OREG0003837	type=REGULATORY REGION|Gene=UGT1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
COL6A3	1293	broad.mit.edu	37	2	238289604	238289604	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:238289604C>T	uc002vwl.2	-	5	2136	c.1851G>A	c.(1849-1851)CTG>CTA	p.L617L	COL6A3_uc002vwo.2_Silent_p.L411L|COL6A3_uc010znj.1_Silent_p.L210L|COL6A3_uc002vwq.2_Silent_p.L411L|COL6A3_uc002vwr.2_Silent_p.L210L|COL6A3_uc010znk.1_Silent_p.L617L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	617	VWFA 3.|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)		GCAAGCCAGGCAGCATGCCTT	0.597												
RNPEPL1	57140	broad.mit.edu	37	2	241516387	241516387	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:241516387C>T	uc002vzi.2	+	10	1764	c.1171C>T	c.(1171-1173)CGG>TGG	p.R391W	RNPEPL1_uc010fzf.2_Missense_Mutation_p.R297W|RNPEPL1_uc002vzj.2_Missense_Mutation_p.R39W	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like	391					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CCACAGGGTGCGGCGCTTCCT	0.647												
PASK	23178	broad.mit.edu	37	2	242065690	242065690	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:242065690G>A	uc002wao.1	-	10	2732	c.2640C>T	c.(2638-2640)CGC>CGT	p.R880R	PASK_uc010zol.1_Silent_p.R694R|PASK_uc010zom.1_Silent_p.R845R|PASK_uc010fzl.1_Silent_p.R880R|PASK_uc010zon.1_Silent_p.R661R|PASK_uc002wap.2_Silent_p.R423R|PASK_uc002waq.2_Silent_p.R880R	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	880					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)		CAGCAGCCCCGCGCATCACGA	0.642												
PASK	23178	broad.mit.edu	37	2	242079329	242079329	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:242079329C>A	uc002wao.1	-	4	663	c.571G>T	c.(571-573)GGC>TGC	p.G191C	PASK_uc010zol.1_Intron|PASK_uc010zom.1_Missense_Mutation_p.G191C|PASK_uc010fzl.1_Missense_Mutation_p.G191C|PASK_uc010zon.1_Intron|PASK_uc002waq.2_Missense_Mutation_p.G191C	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	191					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)		GCAGCGTGGCCGTCGGCCTCC	0.607												
RBCK1	10616	broad.mit.edu	37	20	398429	398429	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:398429G>A	uc002wdp.3	+	4	1008	c.315G>A	c.(313-315)CAG>CAA	p.Q105Q	RBCK1_uc010zpl.1_Silent_p.Q105Q|RBCK1_uc010zpm.1_RNA|RBCK1_uc002wdq.3_Silent_p.Q63Q|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_5'UTR	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing	105	Interaction with IRF3.|Ubiquitin-like.|Interaction with RNF31.|Interaction with TAB2.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				TGATTGGGCAGCGGCTGGCAC	0.483												
ZNF343	79175	broad.mit.edu	37	20	2465000	2465000	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:2465000T>G	uc002wge.1	-	6	1095	c.607A>C	c.(607-609)AGT>CGT	p.S203R	ZNF343_uc010gao.1_Missense_Mutation_p.S203R|ZNF343_uc002wgd.1_Missense_Mutation_p.S113R	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						TTTCTAGGACTTGCTGACTGT	0.522												
JAG1	182	broad.mit.edu	37	20	10622291	10622291	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:10622291G>A	uc002wnw.2	-	23	3249	c.2733C>T	c.(2731-2733)TGC>TGT	p.C911C	JAG1_uc010gcd.1_Silent_p.C469C	NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	911	Extracellular (Potential).		C -> Y (in ALGS1).		angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						GCCCGCTGGGGCACTCGCTGT	0.617									Alagille_Syndrome			
SEL1L2	80343	broad.mit.edu	37	20	13839964	13839964	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:13839964C>T	uc010gcf.2	-	18	1844	c.1762G>A	c.(1762-1764)GCG>ACG	p.A588T	SEL1L2_uc002woq.3_Missense_Mutation_p.A449T|SEL1L2_uc010zrl.1_Intron|SEL1L2_uc002wor.2_RNA	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	588	Extracellular (Potential).|Sel1-like 11.					integral to membrane	binding			ovary(2)	2						ATGGCTTGCGCGTTGTGGTAT	0.403												
FLRT3	23767	broad.mit.edu	37	20	14308143	14308143	+	Missense_Mutation	SNP	C	C	T	rs142379846		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:14308143C>T	uc002wov.1	-	3	477	c.10G>A	c.(10-12)GCA>ACA	p.A4T	MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.A4T	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	4					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			kidney(1)	1		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CTCCAGGCTGCGCTGATCATG	0.438												
SLC24A3	57419	broad.mit.edu	37	20	19673915	19673915	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:19673915A>G	uc002wrl.2	+	13	1534	c.1337A>G	c.(1336-1338)GAA>GGA	p.E446G		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	446	Cytoplasmic (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1						GGTAAACTGGAAACAGTGAAA	0.433											OREG0025804	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TMEM90B	79953	broad.mit.edu	37	20	24524024	24524024	+	Silent	SNP	C	C	T	rs146291718	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:24524024C>T	uc002wtw.1	+	2	924	c.291C>T	c.(289-291)GGC>GGT	p.G97G		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	transmembrane protein 90B	97	Cytoplasmic (Potential).				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane					0						ATTCAGAGGGCGTGCTGCGCT	0.652												
ASXL1	171023	broad.mit.edu	37	20	31023213	31023213	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:31023213C>T	uc002wxs.2	+	12	3124	c.2698C>T	c.(2698-2700)CCC>TCC	p.P900S	ASXL1_uc010geb.2_Missense_Mutation_p.P791S	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	900					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						GCATTGGATACCCATCCCATC	0.478			F|N|Mis		MDS|CMML							
DNMT3B	1789	broad.mit.edu	37	20	31375119	31375119	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:31375119C>T	uc002wyc.2	+	6	837	c.516C>T	c.(514-516)GAC>GAT	p.D172D	DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Silent_p.D172D|DNMT3B_uc002wye.2_Silent_p.D172D|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Silent_p.D130D|DNMT3B_uc010zua.1_Silent_p.D96D|DNMT3B_uc002wyf.2_Silent_p.D184D	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	172	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			lung(3)|ovary(2)	5						ACCTCACAGACGACACAGAGG	0.652												
C20orf70	140683	broad.mit.edu	37	20	31756984	31756984	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:31756984C>T	uc002wyo.1	+	2	104	c.33C>T	c.(31-33)TGC>TGT	p.C11C		NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN	chromosome 20 open reading frame 70 precursor	11						extracellular region	lipid binding			ovary(1)|central_nervous_system(1)	2						TTCTCCTGTGCGGCGTGCTCA	0.493												
ZNF341	84905	broad.mit.edu	37	20	32328795	32328795	+	Missense_Mutation	SNP	C	C	T	rs151120596	by1000genomes	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:32328795C>T	uc002wzy.2	+	2	139	c.119C>T	c.(118-120)GCG>GTG	p.A40V	ZNF341_uc002wzx.2_Missense_Mutation_p.A40V|ZNF341_uc010geq.2_Missense_Mutation_p.R16C|ZNF341_uc010ger.2_RNA	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						AGTGTCAATGCGCCCCCTGCT	0.557												
AHCY	191	broad.mit.edu	37	20	32878577	32878577	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:32878577G>A	uc002xai.2	-	6	865	c.726C>T	c.(724-726)ACC>ACT	p.T242T	AHCY_uc002xaj.2_Silent_p.T214T	NM_000687	NP_000678	P23526	SAHH_HUMAN	adenosylhomocysteinase isoform 1	242					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding				0						GGTCAATCTCGGTGATGATGA	0.632												
DLGAP4	22839	broad.mit.edu	37	20	35060160	35060160	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:35060160G>A	uc002xff.2	+	3	475	c.40G>A	c.(40-42)GAC>AAC	p.D14N	DLGAP4_uc010zvp.1_Missense_Mutation_p.D14N	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	14					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCACCTCTCCGACAGCCTAGA	0.726												
RPN2	6185	broad.mit.edu	37	20	35852284	35852284	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:35852284A>G	uc002xgp.2	+	10	1400	c.1096A>G	c.(1096-1098)AGA>GGA	p.R366G	RPN2_uc002xgo.3_Missense_Mutation_p.R366G|RPN2_uc010gfw.2_Missense_Mutation_p.R209G|RPN2_uc002xgq.2_Missense_Mutation_p.R334G	NM_002951	NP_002942	P04844	RPN2_HUMAN	ribophorin II isoform 1 precursor	366	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				CCTCTAGCTCAGAGTCAAGAT	0.423												
KIAA0406	9675	broad.mit.edu	37	20	36640052	36640052	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:36640052G>A	uc002xhl.2	-	3	2376	c.2167C>T	c.(2167-2169)CTG>TTG	p.L723L	KIAA0406_uc002xhm.2_Silent_p.L723L	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	723							binding				0		Myeloproliferative disorder(115;0.00874)				GAGTTCCGCAGCATGACTTCC	0.463												
ZHX3	23051	broad.mit.edu	37	20	39831909	39831909	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:39831909G>A	uc002xjs.1	-	3	2026	c.1648C>T	c.(1648-1650)CGG>TGG	p.R550W	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.R550W|ZHX3_uc002xjt.1_Missense_Mutation_p.R550W|ZHX3_uc002xju.1_Missense_Mutation_p.R550W|ZHX3_uc002xjv.1_Missense_Mutation_p.R550W|ZHX3_uc002xjw.1_Missense_Mutation_p.R550W|ZHX3_uc010ggg.1_Missense_Mutation_p.R550W	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	550	Required for nuclear localization.|Homeobox 2.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)				TTCAAGTTCCGGCAGTGGTAT	0.537												
PTPRT	11122	broad.mit.edu	37	20	41101110	41101110	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:41101110G>A	uc002xkg.2	-	8	1430	c.1246C>T	c.(1246-1248)CGC>TGC	p.R416C	PTPRT_uc010ggj.2_Missense_Mutation_p.R416C	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	416	Extracellular (Potential).|Fibronectin type-III 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTATGGCAGCGGGTCACCGCG	0.587												
MMP9	4318	broad.mit.edu	37	20	44639209	44639209	+	Silent	SNP	G	G	A	rs149020208		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:44639209G>A	uc002xqz.2	+	3	478	c.459G>A	c.(457-459)CCG>CCA	p.P153P		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	153					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CGGTGACGCCGCTCACCTTCA	0.607												
CDH22	64405	broad.mit.edu	37	20	44869687	44869687	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:44869687G>A	uc002xrm.2	-	2	866	c.465C>T	c.(463-465)ATC>ATT	p.I155I	CDH22_uc010ghk.1_Silent_p.I155I	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	155	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				GCACCTTGATGATGAACTCCG	0.642												
ZNF334	55713	broad.mit.edu	37	20	45130930	45130930	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:45130930C>T	uc002xsc.2	-	5	1232	c.1048G>A	c.(1048-1050)GAA>AAA	p.E350K	ZNF334_uc002xsa.2_Missense_Mutation_p.E373K|ZNF334_uc002xsb.2_Missense_Mutation_p.E312K|ZNF334_uc002xsd.2_Missense_Mutation_p.E312K|ZNF334_uc010ghl.2_Missense_Mutation_p.E349K	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	350	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				TCCTTGCATTCGTAAGGCTTC	0.438												
SLC9A8	23315	broad.mit.edu	37	20	48503378	48503378	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:48503378C>T	uc002xuv.1	+	15	1791	c.1581C>T	c.(1579-1581)TTC>TTT	p.F527F	SLC9A8_uc010zym.1_Silent_p.F227F|SLC9A8_uc010gid.2_Silent_p.F151F	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	sodium/hydrogen exchanger 8	527						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TTAAGGGCTTCGTGTGGCTGG	0.627												
KCNG1	3755	broad.mit.edu	37	20	49626608	49626608	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:49626608C>T	uc002xwa.3	-	2	563	c.268G>A	c.(268-270)GGC>AGC	p.G90S	KCNG1_uc002xwb.2_Missense_Mutation_p.G90S	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	90	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						TTGAGCTGGCCCAGGCGCGTC	0.632												
TFAP2C	7022	broad.mit.edu	37	20	55206380	55206380	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:55206380G>A	uc002xya.2	+	2	411	c.168G>A	c.(166-168)CCG>CCA	p.P56P	TFAP2C_uc010zzi.1_5'UTR	NM_003222	NP_003213	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma	56	Gln/Pro-rich (transactivation domain).				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Colorectal(105;0.229)			AATATCAGCCGCCACCCTACT	0.687												
APCDD1L	164284	broad.mit.edu	37	20	57042206	57042206	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:57042206G>A	uc002xze.1	-	3	883	c.697C>T	c.(697-699)CAC>TAC	p.H233Y	APCDD1L_uc010zzp.1_Missense_Mutation_p.H244Y	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated	233						integral to membrane				ovary(1)	1	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GGCCGGTAGTGCCGCCTCTCC	0.741												
TAF4	6874	broad.mit.edu	37	20	60585189	60585189	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:60585189C>T	uc002ybs.2	-	4	1674	c.1674G>A	c.(1672-1674)ACG>ACA	p.T558T		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	558					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CAAGTGAAGCCGTCTGGGCAG	0.622												
SLCO4A1	28231	broad.mit.edu	37	20	61291766	61291766	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:61291766C>T	uc002ydb.1	+	4	1095	c.890C>T	c.(889-891)ACG>ATG	p.T297M	SLCO4A1_uc002ydc.1_RNA	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family	297	Extracellular (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(1)	1	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TTCCACAGGACGGAGCTGACC	0.687												
DIDO1	11083	broad.mit.edu	37	20	61528133	61528133	+	Missense_Mutation	SNP	C	C	T	rs138811075		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:61528133C>T	uc002ydr.1	-	7	2068	c.1804G>A	c.(1804-1806)GCT>ACT	p.A602T	DIDO1_uc002yds.1_Missense_Mutation_p.A602T|DIDO1_uc002ydt.1_Missense_Mutation_p.A602T|DIDO1_uc002ydu.1_Missense_Mutation_p.A602T	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	602					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					GATGGGGTAGCGGAGAGCCAT	0.592												
COL20A1	57642	broad.mit.edu	37	20	61944531	61944531	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:61944531C>T	uc011aau.1	+	17	2239	c.2139C>T	c.(2137-2139)TAC>TAT	p.Y713Y	COL20A1_uc011aav.1_Silent_p.Y534Y	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	713	Fibronectin type-III 5.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					ACACAGAGTACGACGTCACCA	0.657												
ZGPAT	84619	broad.mit.edu	37	20	62365068	62365068	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:62365068C>T	uc002ygk.2	+	4	1026	c.848C>T	c.(847-849)ACG>ATG	p.T283M	ZGPAT_uc002ygi.2_Missense_Mutation_p.T283M|ZGPAT_uc002ygj.2_Missense_Mutation_p.T283M|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Missense_Mutation_p.T283M|ZGPAT_uc002ygm.2_Intron|ZGPAT_uc002ygn.3_RNA|LIME1_uc011abi.1_5'Flank|LIME1_uc002ygp.3_5'Flank	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	283					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					AGCGACGGTACGGGTGACTCC	0.667												
ZBTB46	140685	broad.mit.edu	37	20	62421359	62421359	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:62421359A>G	uc002ygv.1	-	2	953	c.752T>C	c.(751-753)GTA>GCA	p.V251A	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					AGAGTTCTGTACTGCACCGTC	0.587												
PCMTD2	55251	broad.mit.edu	37	20	62891516	62891516	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:62891516G>A	uc002yil.3	+	2	398	c.198G>A	c.(196-198)CCG>CCA	p.P66P	PCMTD2_uc002yim.3_Silent_p.P66P	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate)	66						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TCTCAGCCCCGTGCATCTACT	0.493												
BTG3	10950	broad.mit.edu	37	21	18966420	18966420	+	Silent	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:18966420T>C	uc002ykk.2	-	5	1010	c.750A>G	c.(748-750)GCA>GCG	p.A250A	BTG3_uc002ykl.2_Silent_p.A294A	NM_006806	NP_006797	Q14201	BTG3_HUMAN	B-cell translocation gene 3 isoform b	250					negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm					0				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		GTTAGTGAGGTGCTAACATGT	0.373												
NCAM2	4685	broad.mit.edu	37	21	22906922	22906922	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:22906922G>T	uc002yld.1	+	17	2596	c.2347G>T	c.(2347-2349)GAA>TAA	p.E783*	NCAM2_uc011acb.1_Nonsense_Mutation_p.E641*	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	783	Cytoplasmic (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TACTAATCACGAAGATGGGAG	0.413												
NCAM2	4685	broad.mit.edu	37	21	22906925	22906925	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:22906925G>A	uc002yld.1	+	17	2599	c.2350G>A	c.(2350-2352)GAT>AAT	p.D784N	NCAM2_uc011acb.1_Missense_Mutation_p.D642N	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	784	Cytoplasmic (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TAATCACGAAGATGGGAGCCC	0.413												
RWDD2B	10069	broad.mit.edu	37	21	30380587	30380587	+	Silent	SNP	C	C	T	rs145317909	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:30380587C>T	uc002yms.2	-	3	423	c.336G>A	c.(334-336)CCG>CCA	p.P112P	RWDD2B_uc002ymt.2_Silent_p.P83P|RWDD2B_uc002ymu.2_Intron|RWDD2B_uc002ymv.2_Silent_p.P32P	NM_016940	NP_058636	P57060	RWD2B_HUMAN	RWD domain containing 2B	112	RWD.										0						GCAGAACTGCCGGGTATTTAA	0.383												
BACH1	571	broad.mit.edu	37	21	30701983	30701983	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:30701983T>C	uc002ynj.2	+	4	1860	c.1745T>C	c.(1744-1746)ATA>ACA	p.I582T	BACH1_uc002ynk.2_Missense_Mutation_p.I582T|BACH1_uc002ynl.2_RNA	NM_001186	NP_001177	O14867	BACH1_HUMAN	BTB and CNC homology 1 transcription factor	582						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|liver(1)	2						CTTGACTGTATACAGAATCTT	0.348												
TIAM1	7074	broad.mit.edu	37	21	32638992	32638992	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:32638992T>G	uc002yow.1	-	5	769	c.297A>C	c.(295-297)AGA>AGC	p.R99S	TIAM1_uc011adk.1_Missense_Mutation_p.R99S|TIAM1_uc011adl.1_Missense_Mutation_p.R99S|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	99					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						AAGACACAGGTCTCAAGCCCA	0.572												
SFRS15	57466	broad.mit.edu	37	21	33063217	33063217	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:33063217C>A	uc002ypd.2	-	15	2204	c.1778G>T	c.(1777-1779)TGG>TTG	p.W593L	SFRS15_uc002ype.2_Missense_Mutation_p.W593L|SFRS15_uc010glu.2_Missense_Mutation_p.W578L|SFRS15_uc002ypf.1_Missense_Mutation_p.W267L	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	593						nucleus	nucleotide binding|RNA binding				0						TTCTACATCCCAATACTGCTT	0.383												
IFNAR1	3454	broad.mit.edu	37	21	34697419	34697419	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:34697419T>C	uc002yrn.2	+	1	206	c.59T>C	c.(58-60)GTG>GCG	p.V20A	IFNAR1_uc011adv.1_Intron	NM_000629	NP_000620	P17181	INAR1_HUMAN	interferon-alpha receptor 1 precursor	20					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			central_nervous_system(1)|skin(1)	2					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GCGCCATGGGTGTTGTCCGCA	0.692												
IFNAR1	3454	broad.mit.edu	37	21	34713411	34713411	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:34713411C>T	uc002yrn.2	+	3	454	c.307C>T	c.(307-309)CGT>TGT	p.R103C	IFNAR1_uc011adv.1_Missense_Mutation_p.R34C	NM_000629	NP_000620	P17181	INAR1_HUMAN	interferon-alpha receptor 1 precursor	103	Extracellular (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			central_nervous_system(1)|skin(1)	2					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AATTAAATTGCGTATAAGAGC	0.328												
DONSON	29980	broad.mit.edu	37	21	34951696	34951696	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:34951696A>G	uc002ysk.2	-	9	1590	c.1523T>C	c.(1522-1524)GTA>GCA	p.V508A	DONSON_uc002ysi.1_Missense_Mutation_p.V268A|DONSON_uc002ysj.2_Missense_Mutation_p.V141A|DONSON_uc002ysl.2_Missense_Mutation_p.V141A|DONSON_uc010gme.2_Missense_Mutation_p.V481A|DONSON_uc002ysm.2_Missense_Mutation_p.V508A	NM_017613	NP_060083	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	508					multicellular organismal development	nucleus				ovary(1)|central_nervous_system(1)	2						GATGTTAAATACAGCAGTTGG	0.438												
DOPEY2	9980	broad.mit.edu	37	21	37571453	37571453	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:37571453T>A	uc002yvg.2	+	3	303	c.224T>A	c.(223-225)CTG>CAG	p.L75Q	DOPEY2_uc011aeb.1_Missense_Mutation_p.L75Q	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	75					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						CACCCTGCCCTGCCCAGTGGT	0.488												
DOPEY2	9980	broad.mit.edu	37	21	37664445	37664445	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:37664445G>A	uc002yvg.2	+	36	6638	c.6559G>A	c.(6559-6561)GCC>ACC	p.A2187T	DOPEY2_uc011aeb.1_Missense_Mutation_p.A2136T	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	2187					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						AGAGGGCCCTGCCTTCCTGTC	0.458												
DSCAM	1826	broad.mit.edu	37	21	41719642	41719642	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:41719642T>C	uc002yyq.1	-	6	1617	c.1165A>G	c.(1165-1167)AAG>GAG	p.K389E	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	389	Extracellular (Potential).|Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGCTTGTCCTTGCGCACAAAG	0.507												
DSCAM	1826	broad.mit.edu	37	21	41725614	41725614	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:41725614C>T	uc002yyq.1	-	5	1164	c.712G>A	c.(712-714)GCT>ACT	p.A238T	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	238	Extracellular (Potential).|Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGCTGCCCAGCCATGGCTTTG	0.547												
POFUT2	23275	broad.mit.edu	37	21	46703350	46703350	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:46703350G>A	uc002zhc.2	-	3	500	c.475C>T	c.(475-477)CGG>TGG	p.R159W	POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_Missense_Mutation_p.R159W|POFUT2_uc011afp.1_Missense_Mutation_p.R159W	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2 isoform C	159					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity				0				Colorectal(79;0.243)		ATACACGGCCGCTCGTCCACC	0.527												
COL18A1	80781	broad.mit.edu	37	21	46896330	46896330	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:46896330C>T	uc011afs.1	+	5	2130	c.2109C>T	c.(2107-2109)GGC>GGT	p.G703G	COL18A1_uc002zhg.2_Silent_p.G288G|COL18A1_uc002zhi.2_Silent_p.G468G	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	703	Nonhelical region 1 (NC1).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TGGCTGGAGGCAGCAGCACGG	0.567												
PCNT	5116	broad.mit.edu	37	21	47746486	47746486	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:47746486G>T	uc002zji.3	+	2	357	c.250G>T	c.(250-252)GGG>TGG	p.G84W	PCNT_uc002zjj.2_Translation_Start_Site|C21orf58_uc011afx.1_5'Flank|C21orf58_uc002zjf.2_5'Flank|C21orf58_uc010gqj.1_5'Flank|C21orf58_uc002zjg.1_5'Flank	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	84					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					TGGGGCAGGAGGGGCCTTTGC	0.483												
MICAL3	57553	broad.mit.edu	37	22	18305761	18305761	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:18305761C>T	uc002zng.3	-	23	3612	c.3259G>A	c.(3259-3261)GCA>ACA	p.A1087T	MICAL3_uc011agl.1_Intron	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	1087	Glu-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		TCCTCTGCTGCCTCCCCTTCT	0.572												
HIRA	7290	broad.mit.edu	37	22	19319037	19319037	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:19319037T>C	uc002zpf.1	-	25	3200	c.2980A>G	c.(2980-2982)ATC>GTC	p.I994V	HIRA_uc011agx.1_Missense_Mutation_p.H830R|HIRA_uc010grn.1_Missense_Mutation_p.I787V|HIRA_uc010gro.1_Missense_Mutation_p.I950V	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	994	Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Colorectal(54;0.0993)					TTCTGCCCGATGACTGGTAGC	0.592												
HIRA	7290	broad.mit.edu	37	22	19371200	19371200	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:19371200C>T	uc002zpf.1	-	13	1578	c.1358G>A	c.(1357-1359)CGG>CAG	p.R453Q	HIRA_uc011agx.1_Missense_Mutation_p.R319Q|HIRA_uc010grn.1_Missense_Mutation_p.R453Q|HIRA_uc010gro.1_Missense_Mutation_p.R409Q|HIRA_uc010grp.2_RNA	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	453	Interaction with CCNA1.|Interaction with ASF1A.|Required for repression of histone gene transcription.			Missing: Impairs binding to ASF1A.	chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Colorectal(54;0.0993)					ATCTGCTGTCCGAGTCTCAAC	0.418												
TXNRD2	10587	broad.mit.edu	37	22	19868175	19868175	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:19868175G>A	uc011ahc.1	-	13	1185	c.1152C>T	c.(1150-1152)GGC>GGT	p.G384G	TXNRD2_uc002zql.1_Silent_p.G138G|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Silent_p.G383G|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqq.1_Silent_p.G34G	NM_006440	NP_006431	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2 precursor	384					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			ovary(2)	2	Colorectal(54;0.0993)					CTGAGGACCCGCCGAAGAGCC	0.632												
HIC2	23119	broad.mit.edu	37	22	21799992	21799992	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:21799992G>A	uc002zur.3	+	3	1038	c.808G>A	c.(808-810)GCA>ACA	p.A270T	HIC2_uc002zus.3_Missense_Mutation_p.A270T	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	270					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				TCCCGATGACGCAGCCCAGCT	0.672												
ZNF70	7621	broad.mit.edu	37	22	24086656	24086656	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:24086656G>A	uc002zxs.2	-	2	1133	c.672C>T	c.(670-672)TAC>TAT	p.Y224Y	ZNF70_uc002zxr.1_5'Flank	NM_021916	NP_068735	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	224	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						CCCTGCACTCGTAGGGCCTCT	0.562												
ADRBK2	157	broad.mit.edu	37	22	26114215	26114215	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:26114215A>G	uc003abx.3	+	19	1805	c.1658A>G	c.(1657-1659)TAC>TGC	p.Y553C	ADRBK2_uc003aby.3_RNA	NM_005160	NP_005151	P35626	ARBK2_HUMAN	beta-adrenergic receptor kinase 2	553							ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7					Adenosine triphosphate(DB00171)	TCCTCAGATTACGCTCTGGGG	0.403												
ADRBK2	157	broad.mit.edu	37	22	26117303	26117303	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:26117303A>T	uc003abx.3	+	20	1991	c.1844A>T	c.(1843-1845)AAA>ATA	p.K615I	ADRBK2_uc003aby.3_RNA	NM_005160	NP_005151	P35626	ARBK2_HUMAN	beta-adrenergic receptor kinase 2	615	PH.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7					Adenosine triphosphate(DB00171)	ACTCAAATTAAAGACAAAAAA	0.274												
TFIP11	24144	broad.mit.edu	37	22	26888055	26888055	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:26888055C>T	uc003acr.2	-	14	2812	c.2438G>A	c.(2437-2439)CGG>CAG	p.R813Q	TFIP11_uc003acq.2_Missense_Mutation_p.R172Q|TFIP11_uc003acs.2_Missense_Mutation_p.R813Q|TFIP11_uc003act.2_Missense_Mutation_p.R813Q|uc003acu.1_RNA	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	813					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity				0						GACCACTCCCCGGTCGATGTA	0.567												
CRYBB1	1414	broad.mit.edu	37	22	26997907	26997907	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:26997907C>T	uc003acy.1	-	5	581	c.511G>A	c.(511-513)GCA>ACA	p.A171T		NM_001887	NP_001878	P53674	CRBB1_HUMAN	crystallin, beta B1	171	Beta/gamma crystallin 'Greek key' 3.				visual perception		structural constituent of eye lens			ovary(1)	1						AGACTGGGTGCGTCGTCCCCC	0.612												
EMID1	129080	broad.mit.edu	37	22	29654828	29654828	+	Silent	SNP	G	G	A	rs138894145		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:29654828G>A	uc003aen.2	+	15	1296	c.1221G>A	c.(1219-1221)GCG>GCA	p.A407A	EMID1_uc003aem.2_Silent_p.A409A|EMID1_uc003aeo.2_Silent_p.A411A|EMID1_uc003aep.2_Silent_p.A388A	NM_133455	NP_597712	Q96A84	EMID1_HUMAN	EMI domain containing 1	407						collagen					0						GGTCTGGGGCGGGCCCTGCCG	0.677												
OSBP2	23762	broad.mit.edu	37	22	31289636	31289636	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:31289636C>T	uc003aiy.1	+	11	2210	c.2106C>T	c.(2104-2106)ATC>ATT	p.I702I	OSBP2_uc011ala.1_Silent_p.I536I|OSBP2_uc010gwc.1_Silent_p.I529I|OSBP2_uc011alb.1_Silent_p.I653I|OSBP2_uc003aiz.1_Silent_p.I701I|OSBP2_uc003aja.1_Silent_p.I335I|OSBP2_uc011alc.1_Silent_p.I444I|OSBP2_uc003ajb.2_Silent_p.I247I|OSBP2_uc011ald.1_Silent_p.I246I|OSBP2_uc010gwd.1_Silent_p.I247I	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a	702					lipid transport	membrane	lipid binding			breast(1)|skin(1)	2						CAGGGGACATCGAGATTGTGA	0.627												
SFI1	9814	broad.mit.edu	37	22	31971347	31971347	+	Silent	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:31971347C>A	uc003ale.2	+	10	1446	c.1053C>A	c.(1051-1053)GCC>GCA	p.A351A	SFI1_uc003ald.1_Silent_p.A327A|SFI1_uc003alf.2_Silent_p.A351A|SFI1_uc003alg.2_Silent_p.A269A|SFI1_uc011alp.1_Silent_p.A269A|SFI1_uc011alq.1_Silent_p.A327A|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	spindle assembly associated Sfi1 homolog isoform	351	HAT 4.				G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1						GGAAGATGGCCCTGCGGCGCG	0.562												
APOL3	80833	broad.mit.edu	37	22	36537739	36537739	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:36537739C>T	uc003aot.2	-	3	756	c.718G>A	c.(718-720)GTG>ATG	p.V240M	APOL3_uc003aoq.2_Missense_Mutation_p.V169M|APOL3_uc003aor.2_Missense_Mutation_p.V169M|APOL3_uc003aos.2_Missense_Mutation_p.V169M|APOL3_uc003aou.2_Missense_Mutation_p.V40M|APOL3_uc003aov.2_Missense_Mutation_p.V40M	NM_145640	NP_663615	O95236	APOL3_HUMAN	apolipoprotein L3 isoform 1	240					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity				0						GAGTGCTCCACGATGCTGGTG	0.532												
C22orf33	339669	broad.mit.edu	37	22	37387547	37387547	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:37387547C>T	uc003aqf.2	-	5	866	c.720G>A	c.(718-720)TGG>TGA	p.W240*	C22orf33_uc003aqe.2_Nonsense_Mutation_p.W155*	NM_001163857	NP_001157329	O43247	EAN57_HUMAN	hypothetical protein LOC339669 isoform 1	240											0						TCCTGCCATGCCAGTGTTCTA	0.542												
POLR2F	5435	broad.mit.edu	37	22	38363644	38363644	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:38363644C>T	uc003aul.2	+	5	427	c.306C>T	c.(304-306)ATC>ATT	p.I102I	POLR2F_uc010gxi.2_3'UTR|POLR2F_uc003aum.2_Intron	NM_021974	NP_068809	P61218	RPAB2_HUMAN	DNA directed RNA polymerase II polypeptide F	102					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity			breast(1)	1	Melanoma(58;0.045)					CCCGAAAGATCCCCATCATCA	0.562												
MPPED1	758	broad.mit.edu	37	22	43870822	43870822	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:43870822C>T	uc011apv.1	+	4	836	c.613C>T	c.(613-615)CGG>TGG	p.R205W	MPPED1_uc011apw.1_Missense_Mutation_p.R99W|MPPED1_uc011apx.1_Missense_Mutation_p.R47W|MPPED1_uc011apy.1_Missense_Mutation_p.R205W|MPPED1_uc011apz.1_Missense_Mutation_p.R238W	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	205							hydrolase activity				0		all_neural(38;0.0244)|Ovarian(80;0.0694)				GCGGGGCTTCCGGATCTATGG	0.498												
SMC1B	27127	broad.mit.edu	37	22	45755790	45755790	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:45755790C>T	uc003bgc.2	-	18	2809	c.2757G>A	c.(2755-2757)CTG>CTA	p.L919L	SMC1B_uc003bgd.2_Silent_p.L919L	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	919	Potential.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GTTTCTGTTCCAGAGAAGTTT	0.363												
SMC1B	27127	broad.mit.edu	37	22	45809346	45809346	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:45809346C>T	uc003bgc.2	-	1	155	c.103G>A	c.(103-105)GGC>AGC	p.G35S	SMC1B_uc003bgd.2_Missense_Mutation_p.G35S|RIBC2_uc011aqs.1_5'Flank	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	35	ATP (Potential).				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTACCAGAGCCGTTGGGGCCG	0.687												
FBLN1	2192	broad.mit.edu	37	22	45996231	45996231	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:45996231G>A	uc003bgj.1	+	17	2164	c.2017G>A	c.(2017-2019)GTC>ATC	p.V673I	FBLN1_uc003bgk.1_RNA	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	673					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ATTTCATGCCGTCCTGAAGCT	0.577												
FBLN1	2192	broad.mit.edu	37	22	45996292	45996292	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:45996292A>G	uc003bgj.1	+	17	2225	c.2078A>G	c.(2077-2079)AAC>AGC	p.N693S	FBLN1_uc003bgk.1_RNA	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	693					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AATGTTGTCAACGTCCACATC	0.597												
PIM3	415116	broad.mit.edu	37	22	50356388	50356388	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:50356388G>A	uc003bjb.2	+	5	1121	c.668G>A	c.(667-669)GGG>GAG	p.G223E	PIM3_uc011arj.1_5'UTR	NM_001001852	NP_001001852	Q86V86	PIM3_HUMAN	serine/threonine protein kinase pim-3	223	Protein kinase.				cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity				0		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		CGCTACCACGGGCGCTCGGCC	0.667												
PANX2	56666	broad.mit.edu	37	22	50615790	50615790	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:50615790C>T	uc003bjn.3	+	2	649	c.649C>T	c.(649-651)CGC>TGC	p.R217C	PANX2_uc003bjp.3_Missense_Mutation_p.R83C|PANX2_uc003bjo.3_Missense_Mutation_p.R217C	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	217	Cytoplasmic (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CCTGGAGCGCCGCGGCCGCAG	0.652												
MAPK12	6300	broad.mit.edu	37	22	50694077	50694077	+	Silent	SNP	C	C	T	rs138308621		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:50694077C>T	uc003bkm.1	-	9	889	c.738G>A	c.(736-738)CCG>CCA	p.P246P	MAPK12_uc003bkn.2_Silent_p.P65P|MAPK12_uc003bko.2_Silent_p.P156P|MAPK12_uc003bkl.1_Silent_p.P236P|MAPK12_uc003bkp.2_Silent_p.P31P|MAPK12_uc003bkq.2_Silent_p.P65P	NM_002969	NP_002960	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	246	Protein kinase.				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAAACTCAGCCGGAGGCGTCC	0.667												
KLHDC7B	113730	broad.mit.edu	37	22	50987980	50987980	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:50987980G>A	uc003bmi.2	+	1	1519	c.1385G>A	c.(1384-1386)CGC>CAC	p.R462H		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	462	Kelch 4.									central_nervous_system(1)	1		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTCTTCTACCGCCTGCTCAGG	0.677												
CHL1	10752	broad.mit.edu	37	3	447269	447269	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:447269G>A	uc003bou.2	+	27	3773	c.3502G>A	c.(3502-3504)GGA>AGA	p.G1168R	CHL1_uc003bot.2_Missense_Mutation_p.G1184R|CHL1_uc011asi.1_Missense_Mutation_p.G1131R	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	1168	Cytoplasmic (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AGTCGAATACGGAGAGGGAGA	0.458												
CNTN6	27255	broad.mit.edu	37	3	1339624	1339624	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:1339624T>C	uc003boz.2	+	7	977	c.710T>C	c.(709-711)ATA>ACA	p.I237T	CNTN6_uc010hbo.2_Missense_Mutation_p.I232T|CNTN6_uc011asj.1_Missense_Mutation_p.I165T|CNTN6_uc003bpa.2_Missense_Mutation_p.I237T	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	237	Ig-like C2-type 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CCTGAAACTATACAAGCTGCA	0.323												
BRPF1	7862	broad.mit.edu	37	3	9784805	9784805	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:9784805C>T	uc003bse.2	+	7	2560	c.2161C>T	c.(2161-2163)CTT>TTT	p.L721F	BRPF1_uc003bsf.2_Missense_Mutation_p.L727F|BRPF1_uc003bsg.2_Missense_Mutation_p.L721F|BRPF1_uc011ati.1_Missense_Mutation_p.L721F	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	721	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)					AGCAGTGCGGCTTCGTGAGCA	0.562												
BRPF1	7862	broad.mit.edu	37	3	9786077	9786077	+	Silent	SNP	G	G	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:9786077G>C	uc003bse.2	+	9	3186	c.2787G>C	c.(2785-2787)GGG>GGC	p.G929G	BRPF1_uc003bsf.2_Silent_p.G935G|BRPF1_uc003bsg.2_Silent_p.G928G|BRPF1_uc011ati.1_Intron	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	929	Required for RUNX1 and RUNX2 transcriptional activation.				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)					GTCCTGTGGGGCCCCCCCAGC	0.662												
FANCD2	2177	broad.mit.edu	37	3	10133927	10133927	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:10133927C>G	uc003buw.2	+	38	3918	c.3840C>G	c.(3838-3840)AAC>AAG	p.N1280K	FANCD2_uc003bux.1_Missense_Mutation_p.N1280K|FANCD2_uc003buy.1_Missense_Mutation_p.N1280K|FANCD2_uc010hcw.1_RNA|C3orf24_uc003buz.2_Intron	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	1280					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TCCTCATCAACTTGATAAAGG	0.458			D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
NUP210	23225	broad.mit.edu	37	3	13367333	13367333	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:13367333A>G	uc003bxv.1	-	33	4689	c.4606T>C	c.(4606-4608)TAC>CAC	p.Y1536H		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1536	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)					ACCTCATAGTAAACCGTCACG	0.642												
GRIP2	80852	broad.mit.edu	37	3	14538015	14538015	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:14538015G>A	uc011avi.1	-	23	3027	c.3027C>T	c.(3025-3027)GGC>GGT	p.G1009G	GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Silent_p.G540G	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	911					synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1						AAGGCCGGTGGCCAGGCCTGC	0.572												
NEK10	152110	broad.mit.edu	37	3	27161323	27161323	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:27161323A>G	uc010hfk.2	-	14	1454	c.1225T>C	c.(1225-1227)TTT>CTT	p.F409L	NEK10_uc010hfj.2_Missense_Mutation_p.F352L			Q6ZWH5	NEK10_HUMAN	RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;	1097							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						GCTGTGAAAAAGTTGGGCTCA	0.428												
RBMS3	27303	broad.mit.edu	37	3	29781250	29781250	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:29781250C>A	uc003cel.2	+	5	669	c.439C>A	c.(439-441)CTC>ATC	p.L147I	RBMS3_uc003cek.2_Missense_Mutation_p.L147I|RBMS3_uc010hfq.2_Missense_Mutation_p.L147I|RBMS3_uc003cem.2_Missense_Mutation_p.L146I|RBMS3_uc010hfr.2_Missense_Mutation_p.L147I	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting	147	RRM 2.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)	1		Ovarian(412;0.0956)				CATCTCAAATCTCCCCATTTC	0.393												
GPD1L	23171	broad.mit.edu	37	3	32200470	32200470	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:32200470G>A	uc003cew.2	+	6	781	c.721G>A	c.(721-723)GCC>ACC	p.A241T		NM_015141	NP_055956	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	241					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity				0						GATTGCTTTTGCCAGGATCTT	0.597												
SUSD5	26032	broad.mit.edu	37	3	33195131	33195131	+	Silent	SNP	T	T	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:33195131T>G	uc003cfo.1	-	5	1411	c.993A>C	c.(991-993)CCA>CCC	p.P331P		NM_015551	NP_056366	O60279	SUSD5_HUMAN	sushi domain containing 5 precursor	331	Extracellular (Potential).				cell adhesion	integral to membrane	hyaluronic acid binding			ovary(1)|central_nervous_system(1)	2						CAGGTTCACCTGGGACCAATT	0.517												
PDCD6IP	10015	broad.mit.edu	37	3	33887074	33887074	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:33887074C>T	uc003cfx.2	+	12	1790	c.1635C>T	c.(1633-1635)GGC>GGT	p.G545G	PDCD6IP_uc003cfy.2_Silent_p.G550G|PDCD6IP_uc011axw.1_Silent_p.G326G	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	545	Interaction with EIAV p9.|Self-association.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			ovary(1)|skin(1)	2						CCATGCAGGGCAGTGAGGTAA	0.438												
STAC	6769	broad.mit.edu	37	3	36485060	36485060	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:36485060A>G	uc003cgh.1	+	2	355	c.316A>G	c.(316-318)AAG>GAG	p.K106E	STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Missense_Mutation_p.K106E	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	106					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			skin(2)|ovary(1)|pancreas(1)	4						TCCAGGTGGCAAGGCTCATGC	0.572												
TRANK1	9881	broad.mit.edu	37	3	36884133	36884133	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:36884133C>T	uc003cgj.2	-	8	3780	c.3478G>A	c.(3478-3480)GCC>ACC	p.A1160T		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1710	TPR 3.				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						TGGTGCTTGGCGTAGTAATCT	0.488												
ITGA9	3680	broad.mit.edu	37	3	37574834	37574834	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:37574834C>A	uc003chd.2	+	14	1456	c.1403C>A	c.(1402-1404)TCC>TAC	p.S468Y	ITGA9_uc003chc.2_Missense_Mutation_p.S468Y	NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	468	Extracellular (Potential).|FG-GAP 7.				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GTGGATGTCTCCATCTTCCTC	0.547												
VILL	50853	broad.mit.edu	37	3	38048186	38048186	+	Silent	SNP	A	A	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:38048186A>C	uc003chj.2	+	19	2738	c.2452A>C	c.(2452-2454)AGG>CGG	p.R818R	VILL_uc003chl.2_Silent_p.R818R	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	818	HP.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCCTGCCCGCAGGGAGGTGGG	0.672												
SCN10A	6336	broad.mit.edu	37	3	38763831	38763831	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:38763831C>T	uc003ciq.2	-	19	3425	c.3425G>A	c.(3424-3426)CGC>CAC	p.R1142H		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1142					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCAAGTCTTGCGCACCTGCCA	0.552												
TTC21A	199223	broad.mit.edu	37	3	39170206	39170206	+	Splice_Site	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:39170206A>G	uc003cjc.2	+	14	1879	c.1702_splice	c.e14-2	p.V568_splice	TTC21A_uc003cje.2_Splice_Site_p.V569_splice|TTC21A_uc003cjd.2_Splice_Site|TTC21A_uc011ayx.1_Splice_Site_p.V520_splice	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2								binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGCTCCTCCTAGGTCCGAGAT	0.567												
KBTBD5	131377	broad.mit.edu	37	3	42727821	42727821	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:42727821C>T	uc003clv.1	+	1	811	c.711C>T	c.(709-711)CGC>CGT	p.R237R		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	kelch repeat and BTB (POZ) domain containing 5	237	BACK.									ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TGGAAAGCCGCGTGGAGCGCC	0.706												
CCBP2	1238	broad.mit.edu	37	3	42906869	42906869	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:42906869A>G	uc003cme.2	+	3	1054	c.875A>G	c.(874-876)TAC>TGC	p.Y292C	CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmf.2_Missense_Mutation_p.Y292C|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Intron	NM_001296	NP_001287	O00590	CCBP2_HUMAN	chemokine binding protein 2	292	Extracellular (Potential).				chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity	p.Y292Y(1)		lung(4)|skin(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CATCTAGACTACGCACTCCAG	0.522												
CYP8B1	1582	broad.mit.edu	37	3	42916264	42916264	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:42916264G>A	uc003cmh.2	-	1	1370	c.1045C>T	c.(1045-1047)CGG>TGG	p.R349W	CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Missense_Mutation_p.R349W	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B,	349					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GCCCTCAGCCGCAGCGTCTCC	0.587												
LARS2	23395	broad.mit.edu	37	3	45527192	45527192	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:45527192A>G	uc003cop.1	+	11	1212	c.1027A>G	c.(1027-1029)ACG>GCG	p.T343A	LARS2_uc010hit.1_Missense_Mutation_p.T300A	NM_015340	NP_056155	Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	343					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)	AGATTGCCTCACGCCTGTAAT	0.453												
PRSS50	29122	broad.mit.edu	37	3	46754421	46754421	+	Silent	SNP	C	C	T	rs138214038	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:46754421C>T	uc003cqe.1	-	5	950	c.891G>A	c.(889-891)GCG>GCA	p.A297A	PRSS50_uc003cqf.1_Silent_p.A211A	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	testes-specific protease 50 precursor	297	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity				0						GGGTGTCCTCCGCACACATCA	0.488												
PTPN23	25930	broad.mit.edu	37	3	47448823	47448823	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:47448823G>A	uc003crf.1	+	11	985	c.889G>A	c.(889-891)GCG>ACG	p.A297T	PTPN23_uc011baw.1_Missense_Mutation_p.A262T|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.A167T	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	297	BRO1.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGTGCAAGACGCGCTTCGCTT	0.597												
DHX30	22907	broad.mit.edu	37	3	47888228	47888228	+	Missense_Mutation	SNP	G	G	A	rs36045705	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:47888228G>A	uc003cru.2	+	11	2092	c.1666G>A	c.(1666-1668)GTC>ATC	p.V556I	DHX30_uc003crt.2_Missense_Mutation_p.V517I|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	556	Helicase ATP-binding.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.V556I(1)		ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CGTGAGCCACGTCATCGTGGA	0.637												
DHX30	22907	broad.mit.edu	37	3	47890951	47890951	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:47890951G>A	uc003cru.2	+	20	3524	c.3098G>A	c.(3097-3099)GGC>GAC	p.G1033D	DHX30_uc003crt.2_Missense_Mutation_p.G994D|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	1033						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GTGAGGCAGGGCAAGGTCACC	0.587												
COL7A1	1294	broad.mit.edu	37	3	48605162	48605162	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:48605162G>A	uc003ctz.2	-	107	7965	c.7964C>T	c.(7963-7965)GCA>GTA	p.A2655V		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2655	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTTGTGTCCTGCCAGCCCGGG	0.667												
TMEM89	440955	broad.mit.edu	37	3	48658932	48658932	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:48658932C>T	uc011bbo.1	-	1	258	c.258G>A	c.(256-258)CTG>CTA	p.L86L		NM_001008269	NP_001008270	A2RUT3	TMM89_HUMAN	transmembrane protein 89 precursor	86	Helical; (Potential).					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCCGCCCCTGCAGTATCTTGC	0.627												
PRKAR2A	5576	broad.mit.edu	37	3	48789046	48789046	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:48789046C>T	uc010hki.1	-	11	1428	c.1187G>A	c.(1186-1188)AGC>AAC	p.S396N	PRKAR2A_uc003cux.1_Missense_Mutation_p.S396N|PRKAR2A_uc003cuy.1_Missense_Mutation_p.S374N	NM_004157	NP_004148	P13861	KAP2_HUMAN	cAMP-dependent protein kinase, regulatory	396	cAMP 2.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		CAGATCCACGCTGGAGCCAAA	0.522												
RBM6	10180	broad.mit.edu	37	3	50106123	50106123	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:50106123C>T	uc003cyc.2	+	18	3077	c.2944C>T	c.(2944-2946)CAA>TAA	p.Q982*	RBM6_uc003cyd.2_Nonsense_Mutation_p.Q460*|RBM6_uc003cye.2_Nonsense_Mutation_p.Q460*|RBM6_uc011bdi.1_Nonsense_Mutation_p.Q324*|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	982					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CTCTTCTCAGCAAAACCTGGA	0.438												
SEMA3B	7869	broad.mit.edu	37	3	50313251	50313251	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:50313251C>T	uc003cyu.2	+	18	2063	c.1821C>T	c.(1819-1821)CGC>CGT	p.R607R	SEMA3B_uc003cyt.2_Silent_p.R606R|SEMA3B_uc003cyv.2_Silent_p.R494R|SEMA3B_uc003cyw.2_Silent_p.R330R|SEMA3B_uc010hli.2_Silent_p.R499R|SEMA3B_uc003cyx.2_Silent_p.R493R|SEMA3B_uc003cyy.2_Silent_p.R264R|SEMA3B_uc011bdo.1_Silent_p.R264R	NM_004636	NP_004627	Q13214	SEM3B_HUMAN	semaphorin 3B isoform 1 precursor	607	Ig-like C2-type.				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			lung(2)|central_nervous_system(2)|kidney(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CTTTCCAGCGCGCAGGGGTGA	0.692												
DOCK3	1795	broad.mit.edu	37	3	51395259	51395259	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:51395259T>G	uc011bds.1	+	45	4777	c.4754T>G	c.(4753-4755)CTT>CGT	p.L1585R		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1585	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTCAAGGAGCTTATGCAGGAG	0.502												
GRM2	2912	broad.mit.edu	37	3	51752116	51752116	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:51752116G>A	uc010hlv.2	+	6	2846	c.2607G>A	c.(2605-2607)ACG>ACA	p.T869T	GRM2_uc003dbo.3_Silent_p.T251T|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	869	Cytoplasmic (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)	ACTCGACAACGTCATCGCTTT	0.597												
PARP3	10039	broad.mit.edu	37	3	51979569	51979569	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:51979569C>T	uc003dby.2	+	7	1291	c.920C>T	c.(919-921)ACG>ATG	p.T307M	PARP3_uc003dbz.2_Missense_Mutation_p.T314M	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	307					DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAGGAGAAGACGGTGGAGGAG	0.607												
DNAH1	25981	broad.mit.edu	37	3	52391956	52391956	+	Silent	SNP	G	G	A	rs149752071	by1000genomes	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:52391956G>A	uc011bef.1	+	24	4284	c.4023G>A	c.(4021-4023)TCG>TCA	p.S1341S		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1341	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGATCTTGTCGCAGACAAAGG	0.632												
DNAH1	25981	broad.mit.edu	37	3	52422920	52422920	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:52422920C>T	uc011bef.1	+	59	9723	c.9462C>T	c.(9460-9462)GCC>GCT	p.A3154A	DNAH1_uc003ddv.2_Silent_p.A12A	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3219					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)		TCCTGGTGGCCGCTGGCTTTG	0.607												
STAB1	23166	broad.mit.edu	37	3	52553354	52553354	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:52553354C>T	uc003dej.2	+	49	5183	c.5109C>T	c.(5107-5109)TTC>TTT	p.F1703F	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.2_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1703	Extracellular (Potential).|FAS1 5.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCCTGCACTTCATTGACCGTG	0.642												
PRKCD	5580	broad.mit.edu	37	3	53220294	53220294	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:53220294G>A	uc003dgl.2	+	13	1551	c.1198G>A	c.(1198-1200)GTG>ATG	p.V400M	PRKCD_uc003dgm.2_Missense_Mutation_p.V400M	NM_006254	NP_006245	Q05655	KPCD_HUMAN	protein kinase C, delta	400	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		TGAGAAGCGGGTGCTGACACT	0.592												
CACNA1D	776	broad.mit.edu	37	3	53531320	53531320	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:53531320G>A	uc003dgv.3	+	2	372	c.209G>A	c.(208-210)AGC>AAC	p.S70N	CACNA1D_uc003dgu.3_Missense_Mutation_p.S70N|CACNA1D_uc003dgy.3_Missense_Mutation_p.S70N	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	70	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CAAACTATGAGCACCTCTGCA	0.532												
CHDH	55349	broad.mit.edu	37	3	53856589	53856589	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:53856589C>T	uc003dgz.2	-	4	1224	c.784G>A	c.(784-786)GTG>ATG	p.V262M		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	choline dehydrogenase precursor	262					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			ovary(1)|central_nervous_system(1)	2		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	ACCCTGCTCACAAGCGTCTCG	0.632												
LRTM1	57408	broad.mit.edu	37	3	54952605	54952605	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:54952605C>T	uc003dhl.2	-	3	1053	c.919G>A	c.(919-921)GCC>ACC	p.A307T	CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	307	Helical; (Potential).					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CCATAGATGGCAGCTGCCAAC	0.542												
C3orf63	23272	broad.mit.edu	37	3	56657240	56657240	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:56657240A>G	uc003did.3	-	23	4756	c.4655T>C	c.(4654-4656)GTT>GCT	p.V1552A	C3orf63_uc003dib.3_Missense_Mutation_p.V671A|C3orf63_uc003dic.3_Missense_Mutation_p.V1176A|C3orf63_uc003die.3_3'UTR	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	1613										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		ATGAGTGAGAACATTAAAATG	0.343												
FLNB	2317	broad.mit.edu	37	3	58155348	58155348	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:58155348C>T	uc003djj.2	+	45	7614	c.7449C>T	c.(7447-7449)AAC>AAT	p.N2483N	FLNB_uc010hne.2_Silent_p.N2514N|FLNB_uc003djk.2_Silent_p.N2472N|FLNB_uc010hnf.2_Silent_p.N2459N|FLNB_uc003djl.2_Silent_p.N2303N|FLNB_uc003djm.2_Silent_p.N2290N|uc003djn.2_Intron	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	2483	Hinge 2 (By similarity).|Interaction with INPPL1.|Self-association site, tail (By similarity).				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GCTCAGCCAACGAGACCTCAT	0.582												
CADPS	8618	broad.mit.edu	37	3	62535675	62535675	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:62535675C>T	uc003dll.2	-	11	2229	c.1869G>A	c.(1867-1869)ACG>ACA	p.T623T	CADPS_uc003dlk.1_Silent_p.T127T|CADPS_uc003dlm.2_Silent_p.T623T|CADPS_uc003dln.2_Silent_p.T623T	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	623	PH.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GTGACTGCCCCGTGGCCCGAT	0.547												
ATXN7	6314	broad.mit.edu	37	3	63973915	63973915	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:63973915C>T	uc003dlw.3	+	9	1829	c.1276C>T	c.(1276-1278)CAC>TAC	p.H426Y	ATXN7_uc003dlv.2_Missense_Mutation_p.H426Y|ATXN7_uc010hnv.2_Missense_Mutation_p.H426Y|ATXN7_uc011bfn.1_Missense_Mutation_p.H281Y	NM_000333	NP_000324	O15265	ATX7_HUMAN	ataxin 7 isoform a	426	Pro-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding				0		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		ACAGGAGCCGCACCAAAACCC	0.557												
IMPG2	50939	broad.mit.edu	37	3	100964716	100964716	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:100964716C>T	uc003duq.1	-	12	1676	c.1473G>A	c.(1471-1473)CCG>CCA	p.P491P	IMPG2_uc011bhe.1_Silent_p.P354P	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	491	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						GAAGCACTGCCGGGGTGACAG	0.478												
DPPA4	55211	broad.mit.edu	37	3	109049450	109049450	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:109049450C>A	uc003dxq.3	-	5	655	c.600G>T	c.(598-600)GAG>GAT	p.E200D	DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Missense_Mutation_p.E200D	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	200						nucleus	protein binding			upper_aerodigestive_tract(1)	1						CCAGCAAAGCCTCTGGGGCAG	0.567												
PHLDB2	90102	broad.mit.edu	37	3	111604188	111604188	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:111604188C>T	uc010hqa.2	+	2	1675	c.1264C>T	c.(1264-1266)CGT>TGT	p.R422C	PHLDB2_uc003dyc.2_Missense_Mutation_p.R449C|PHLDB2_uc003dyd.2_Missense_Mutation_p.R422C|PHLDB2_uc003dyg.2_Missense_Mutation_p.R422C|PHLDB2_uc003dyh.2_Missense_Mutation_p.R422C|PHLDB2_uc003dye.3_Missense_Mutation_p.R422C|PHLDB2_uc003dyf.3_Missense_Mutation_p.R422C	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	422						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						CATTTCAGGACGTGATGACCT	0.517												
CCDC52	152185	broad.mit.edu	37	3	113212908	113212908	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:113212908G>A	uc003eag.3	-	5	664	c.373C>T	c.(373-375)CGT>TGT	p.R125C	CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Missense_Mutation_p.R21C	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	coiled-coil domain containing 52	125					cell division|mitosis	centriole|spindle	protein binding				0						GTGCGCCTACGAGGAAACAGC	0.373												
ZBTB20	26137	broad.mit.edu	37	3	114058088	114058088	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:114058088A>G	uc003ebi.2	-	5	2170	c.1990T>C	c.(1990-1992)TGC>CGC	p.C664R	ZBTB20_uc003ebj.2_Missense_Mutation_p.C591R|ZBTB20_uc010hqp.2_Missense_Mutation_p.C591R|ZBTB20_uc003ebk.2_Missense_Mutation_p.C591R|ZBTB20_uc003ebl.2_Missense_Mutation_p.C591R|ZBTB20_uc003ebm.2_Missense_Mutation_p.C591R|ZBTB20_uc003ebn.2_Missense_Mutation_p.C591R	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	664	C2H2-type 4.				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)		CAGATGTAGCACTCGTAGGAC	0.587												
ZBTB20	26137	broad.mit.edu	37	3	114070354	114070354	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:114070354G>A	uc003ebi.2	-	4	751	c.571C>T	c.(571-573)CGC>TGC	p.R191C	ZBTB20_uc003ebj.2_Missense_Mutation_p.R118C|ZBTB20_uc010hqp.2_Missense_Mutation_p.R118C|ZBTB20_uc003ebk.2_Missense_Mutation_p.R118C|ZBTB20_uc003ebl.2_Missense_Mutation_p.R118C|ZBTB20_uc003ebm.2_Missense_Mutation_p.R118C|ZBTB20_uc003ebn.2_Missense_Mutation_p.R118C|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	191					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)		GACACGATGCGCGTGCACTCG	0.642												
SLC15A2	6565	broad.mit.edu	37	3	121658261	121658261	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:121658261G>A	uc003eep.2	+	20	1980	c.1827G>A	c.(1825-1827)GCG>GCA	p.A609A	SLC15A2_uc011bjn.1_Silent_p.A578A	NM_021082	NP_066568	Q16348	S15A2_HUMAN	peptide transporter 2 isoform a	609				A -> R (in Ref. 1; AAB34388).	protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TGTCCATTGCGTGGCAGCTAC	0.443												
MYLK	4638	broad.mit.edu	37	3	123419170	123419170	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:123419170G>A	uc003ego.2	-	18	3427	c.3145C>T	c.(3145-3147)CCC>TCC	p.P1049S	MYLK_uc011bjw.1_Missense_Mutation_p.P1049S|MYLK_uc003egp.2_Missense_Mutation_p.P980S|MYLK_uc003egq.2_Missense_Mutation_p.P1049S|MYLK_uc003egr.2_Missense_Mutation_p.P980S|MYLK_uc003egs.2_Missense_Mutation_p.P873S|MYLK_uc003egt.2_Missense_Mutation_p.P240S	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1049	6 X 12 AA approximate tandem repeats.|2-5.			KPM -> EAH (in Ref. 1 and 7).	aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTGCCCATGGGCTTCAGGGTC	0.547												
ROPN1B	152015	broad.mit.edu	37	3	125701223	125701223	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:125701223C>T	uc003eih.2	+	5	735	c.507C>T	c.(505-507)GCC>GCT	p.A169A	ROPN1B_uc010hsb.2_Silent_p.A169A|ROPN1B_uc010hsc.2_Silent_p.A77A	NM_001012337	NP_001012337	Q9BZX4	ROP1B_HUMAN	ropporin, rhophilin associated protein 1B	169					acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity				0				GBM - Glioblastoma multiforme(114;0.151)		CGTATATTGCCGAAGTGGATG	0.438												
ABTB1	80325	broad.mit.edu	37	3	127396654	127396654	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:127396654G>A	uc003ejt.2	+	10	1085	c.997G>A	c.(997-999)GTG>ATG	p.V333M	ABTB1_uc003ejr.2_Missense_Mutation_p.V191M|ABTB1_uc003ejs.2_Missense_Mutation_p.V308M|ABTB1_uc003eju.2_Missense_Mutation_p.V191M|ABTB1_uc010hsm.2_Missense_Mutation_p.V60M	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	333	BTB 2.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity				0						CTTCACTCACGTGCTCTACTA	0.647												
ACAD11	84129	broad.mit.edu	37	3	132349315	132349315	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:132349315G>A	uc003eov.3	-	7	1309	c.929C>T	c.(928-930)GCC>GTC	p.A310V	ACAD11_uc003eoy.2_Missense_Mutation_p.A310V	NM_032169	NP_115545	Q709F0	ACD11_HUMAN	putative acyl-CoA dehydrogenase	310						peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups			ovary(1)	1						ATATGAAAGGGCAAGAAAGAA	0.353												
UBA5	79876	broad.mit.edu	37	3	132387690	132387690	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:132387690A>T	uc003epa.3	+	4	568	c.326A>T	c.(325-327)GAA>GTA	p.E109V	NPHP3_uc003eoz.1_Intron|UBA5_uc010htr.2_Missense_Mutation_p.E53V|UBA5_uc010htt.2_Missense_Mutation_p.E109V|UBA5_uc003epb.3_Missense_Mutation_p.E53V	NM_024818	NP_079094	Q9GZZ9	UBA5_HUMAN	ubiquitin-activating enzyme 5 isoform 1	109					protein ufmylation	aggresome|cytoplasm|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity			kidney(1)	1						GACAAGGTGGAACTAGCCAAT	0.318												
TOPBP1	11073	broad.mit.edu	37	3	133371424	133371424	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:133371424G>A	uc003eps.2	-	8	1104	c.972C>T	c.(970-972)TGC>TGT	p.C324C		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	324					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						ATTCACTTACGCAACTTGCAT	0.328								Other_conserved_DNA_damage_response_genes				
DBR1	51163	broad.mit.edu	37	3	137880841	137880841	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:137880841G>A	uc003erv.2	-	8	1661	c.1525C>T	c.(1525-1527)CCA>TCA	p.P509S	DBR1_uc003eru.2_Missense_Mutation_p.P458S|DBR1_uc003ert.2_Missense_Mutation_p.P277S	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	debranching enzyme homolog 1	509						nucleus	metal ion binding|RNA lariat debranching enzyme activity				0						CTCTTCAATGGCACCTTGGTT	0.448												
MED12L	116931	broad.mit.edu	37	3	150883689	150883689	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:150883689G>A	uc003eyp.2	+	10	1452	c.1414G>A	c.(1414-1416)GAC>AAC	p.D472N	MED12L_uc011bnz.1_Missense_Mutation_p.D332N|MED12L_uc003eyn.2_Missense_Mutation_p.D472N|MED12L_uc003eyo.2_Missense_Mutation_p.D472N	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	472					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCACTGTTTTGACCGAACTGA	0.363												
IGSF10	285313	broad.mit.edu	37	3	151161469	151161469	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:151161469T>C	uc011bod.1	-	5	5266	c.5266A>G	c.(5266-5268)ACA>GCA	p.T1756A	IGSF10_uc011bob.1_5'Flank|IGSF10_uc011boc.1_5'Flank	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1756	Ig-like C2-type 4.				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)			GAATGAACTGTGATCTCTTTG	0.498												
PTX3	5806	broad.mit.edu	37	3	157154774	157154774	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:157154774G>A	uc003fbl.3	+	1	195	c.52G>A	c.(52-54)GAG>AAG	p.E18K	VEPH1_uc003fbj.1_Intron|VEPH1_uc003fbk.1_Intron|VEPH1_uc010hvu.1_Intron	NM_002852	NP_002843	P26022	PTX3_HUMAN	pentraxin 3 precursor	18					inflammatory response	extracellular region				central_nervous_system(1)	1			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGTGTTGGCCGAGAACTCGGA	0.473												
TBL1XR1	79718	broad.mit.edu	37	3	176756141	176756141	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:176756141A>G	uc003fiw.3	-	11	1267	c.1007T>C	c.(1006-1008)TTA>TCA	p.L336S	TBL1XR1_uc003fix.3_Missense_Mutation_p.L336S|TBL1XR1_uc011bpz.1_Missense_Mutation_p.L8S	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	336	WD 4.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			GTCTTGTCCTAATTTACAGAC	0.373												
ECE2	9718	broad.mit.edu	37	3	184005700	184005700	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:184005700G>A	uc003fni.3	+	11	1731	c.1693G>A	c.(1693-1695)GTG>ATG	p.V565M	ECE2_uc011brh.1_Missense_Mutation_p.V418M|ECE2_uc003fnl.3_Missense_Mutation_p.V493M|ECE2_uc003fnm.3_Missense_Mutation_p.V447M|ECE2_uc003fnk.3_Missense_Mutation_p.V418M|ECE2_uc011bri.1_Missense_Mutation_p.V480M|ECE2_uc010hxv.2_Missense_Mutation_p.V209M	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	565	Lumenal (Potential).|Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)|skin(2)	4	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTCCCTCTTCGTGAAGGCCAC	0.493												
TRA2B	6434	broad.mit.edu	37	3	185641637	185641637	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:185641637G>A	uc003fpv.2	-	4	745	c.469C>T	c.(469-471)CGT>TGT	p.R157C	TRA2B_uc003fpt.2_RNA|TRA2B_uc003fpu.2_RNA|TRA2B_uc010hym.2_Missense_Mutation_p.R57C|TRA2B_uc003fpw.2_Missense_Mutation_p.R157C	NM_004593	NP_004584	P62995	TRA2B_HUMAN	splicing factor, arginine/serine-rich 10	157	RRM.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)	2						CCTCTTGAACGCCTAGACTGC	0.398												
KNG1	3827	broad.mit.edu	37	3	186456933	186456933	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:186456933A>G	uc011bsa.1	+	8	1188	c.976A>G	c.(976-978)ACC>GCC	p.T326A	KNG1_uc003fqr.2_Missense_Mutation_p.T326A	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	kininogen 1 isoform 1	326	Cystatin 3.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			skin(1)	1	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	GGCCAGGGAAACCACATGTTC	0.378												
IL1RAP	3556	broad.mit.edu	37	3	190366179	190366179	+	Silent	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:190366179T>C	uc003fsm.1	+	12	1604	c.1398T>C	c.(1396-1398)GTT>GTC	p.V466V	IL1RAP_uc010hzg.1_Silent_p.V466V|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Silent_p.V466V|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Intron	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein isoform	466	Cytoplasmic (Potential).|TIR.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GCCTCCTGGTTGTTCTAAGCC	0.507												
CPN2	1370	broad.mit.edu	37	3	194062974	194062974	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:194062974T>C	uc003fts.2	-	2	548	c.458A>G	c.(457-459)CAG>CGG	p.Q153R		NM_001080513	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	153	LRR 3.				protein stabilization	extracellular region	enzyme regulator activity			ovary(5)	5	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CTGGTTCCCCTGCAGGTGGAG	0.642												
FAM43A	131583	broad.mit.edu	37	3	194408798	194408798	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:194408798G>A	uc003fuj.2	+	1	2177	c.1243G>A	c.(1243-1245)GCC>ACC	p.A415T		NM_153690	NP_710157	Q8N2R8	FA43A_HUMAN	hypothetical protein LOC131583	415										central_nervous_system(1)	1	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		GGCCGACGGCGCCAGTGCAGA	0.741												
LRRC33	375387	broad.mit.edu	37	3	196387199	196387199	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:196387199C>T	uc003fwv.2	+	3	789	c.685C>T	c.(685-687)CGG>TGG	p.R229W		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	leucine rich repeat containing 33 precursor	229	Extracellular (Potential).|LRR 8.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-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;0.00326)		CACGCGGCTGCGGGTCCTCAA	0.647												
PAK2	5062	broad.mit.edu	37	3	196539089	196539089	+	Splice_Site	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:196539089G>A	uc003fwy.3	+	9	1096	c.774_splice	c.e9-1	p.G258_splice		NM_002577	NP_002568	Q13177	PAK2_HUMAN	p21-activated kinase 2						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)		TCTCCCTCTAGGGCTTCTGGT	0.378												
KIAA0226	9711	broad.mit.edu	37	3	197444966	197444966	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:197444966G>A	uc003fyc.2	-	2	284	c.101C>T	c.(100-102)ACG>ATG	p.T34M	KIAA0226_uc003fyd.3_Translation_Start_Site|KIAA0226_uc003fyf.2_Intron|KIAA0226_uc003fyg.2_Missense_Mutation_p.T27M	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	34					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CTCCACCGTCGTCTTCAAATT	0.502												
FAM193A	8603	broad.mit.edu	37	4	2695386	2695386	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:2695386G>A	uc010icl.2	+	14	2355	c.2004G>A	c.(2002-2004)ACG>ACA	p.T668T	FAM193A_uc010ick.2_Silent_p.T868T|FAM193A_uc003gfd.2_Silent_p.T668T|FAM193A_uc011bvm.1_Silent_p.T690T|FAM193A_uc011bvn.1_Silent_p.T668T|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Silent_p.T522T	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	668										ovary(3)	3						ATAGCCCCACGGGCTTGGCCC	0.627												
TMEM128	85013	broad.mit.edu	37	4	4248030	4248030	+	Silent	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:4248030T>C	uc003ghr.1	-	2	168	c.138A>G	c.(136-138)CCA>CCG	p.P46P	TMEM128_uc003ghq.1_Silent_p.P22P|TMEM128_uc003ghs.2_Silent_p.P46P|TMEM128_uc011bvv.1_Silent_p.P46P|TMEM128_uc011bvw.1_Silent_p.P46P	NM_032927	NP_116316	Q5BJH2	TM128_HUMAN	transmembrane protein 128	46						integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		TATTAAGTCTTGGAAGAGGTT	0.358												
MAN2B2	23324	broad.mit.edu	37	4	6588761	6588761	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:6588761C>T	uc003gjf.1	+	4	466	c.430C>T	c.(430-432)CCA>TCA	p.P144S	MAN2B2_uc003gje.1_Missense_Mutation_p.P144S|MAN2B2_uc011bwf.1_Missense_Mutation_p.P144S	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	144					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						TGGGATCCGGCCACAGTTCTC	0.632												
C4orf23	152992	broad.mit.edu	37	4	8477523	8477523	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:8477523G>A	uc003glg.1	+	11	1570	c.1382G>A	c.(1381-1383)CGC>CAC	p.R461H	C4orf23_uc003glh.1_Missense_Mutation_p.R298H|C4orf23_uc003gli.1_RNA	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN	hypothetical protein LOC152992 isoform 2	690					tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding				0						GTTCACATCCGCGACTGGCGA	0.498												
CPZ	8532	broad.mit.edu	37	4	8603054	8603054	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:8603054G>A	uc003glm.2	+	3	452	c.326G>A	c.(325-327)TGT>TAT	p.C109Y	CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Translation_Start_Site|CPZ_uc003glo.2_Missense_Mutation_p.C98Y|CPZ_uc003glp.2_RNA	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z isoform 1	109	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)|pancreas(1)	3						GCCCCCCGGTGTGAGGGCGGC	0.687												
CPEB2	132864	broad.mit.edu	37	4	15060834	15060834	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:15060834A>G	uc003gni.1	+	9	1356	c.1269A>G	c.(1267-1269)TTA>TTG	p.L423L	CPEB2_uc003gnj.1_Silent_p.L393L|CPEB2_uc003gnk.1_Silent_p.L431L|CPEB2_uc003gnl.1_Silent_p.L404L|CPEB2_uc003gnm.1_Silent_p.L401L|CPEB2_uc003gnn.1_Silent_p.L396L	NM_182485	NP_872291	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding	423	RRM 1.				regulation of translation	cytoplasm	nucleotide binding|RNA binding			skin(1)	1						CTTGGAATTTAAGTGATAGTG	0.373												
LDB2	9079	broad.mit.edu	37	4	16504380	16504380	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:16504380G>A	uc003goz.2	-	8	1324	c.1008C>T	c.(1006-1008)GAC>GAT	p.D336D	LDB2_uc003gpa.2_3'UTR|LDB2_uc003gpb.2_Silent_p.D334D|LDB2_uc011bxh.1_Silent_p.D308D|LDB2_uc010iee.2_3'UTR|LDB2_uc003goy.2_Silent_p.D211D|LDB2_uc011bxi.1_3'UTR	NM_001290	NP_001281	O43679	LDB2_HUMAN	LIM domain binding 2 isoform a	336	LIM-binding domain (LID) (By similarity).						LIM domain binding|transcription cofactor activity				0						AGTCCTCCTCGTCGTCCATGC	0.542												
SLIT2	9353	broad.mit.edu	37	4	20620584	20620584	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:20620584C>T	uc003gpr.1	+	37	4746	c.4542C>T	c.(4540-4542)GAC>GAT	p.D1514D	SLIT2_uc003gps.1_Silent_p.D1506D	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1514	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						CCTTTGTGGACGAGGTTGAGA	0.547												
LGI2	55203	broad.mit.edu	37	4	25005545	25005545	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:25005545A>G	uc003grf.2	-	8	1265	c.1166T>C	c.(1165-1167)CTG>CCG	p.L389P		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	389	EAR 4.					extracellular region					0		Breast(46;0.173)				GCGGCTGGACAGGATGAGATG	0.507												
RFC1	5981	broad.mit.edu	37	4	39310257	39310257	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:39310257G>A	uc003gty.1	-	13	2018	c.1884C>T	c.(1882-1884)CAC>CAT	p.H628H	RFC1_uc003gtx.1_Silent_p.H628H	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	628					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4						TAAAATCACCGTGTTTTTTAT	0.388												
N4BP2	55728	broad.mit.edu	37	4	40115053	40115053	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:40115053C>A	uc003guy.3	+	7	1927	c.1589C>A	c.(1588-1590)TCT>TAT	p.S530Y	N4BP2_uc010ifq.2_Missense_Mutation_p.S450Y|N4BP2_uc010ifr.2_Missense_Mutation_p.S450Y	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	530						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						TGTATGTAGTCTCAGAAACAC	0.308												
SHISA3	152573	broad.mit.edu	37	4	42403231	42403231	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:42403231G>A	uc003gwp.2	+	2	698	c.480G>A	c.(478-480)CGG>CGA	p.R160R		NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN	shisa homolog 3 precursor	160	Cytoplasmic (Potential).				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				ovary(1)|skin(1)	2						CACCCTCCCGGCAGTCCAGCA	0.677												
SLC10A4	201780	broad.mit.edu	37	4	48490497	48490497	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:48490497C>T	uc003gyc.2	+	3	1074	c.855C>T	c.(853-855)GGC>GGT	p.G285G	ZAR1_uc003gyd.2_5'Flank	NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	285	Helical; (Potential).					integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)	1						TAATGACCGGCACTATGTTAG	0.443												
SGCB	6443	broad.mit.edu	37	4	52896001	52896001	+	Missense_Mutation	SNP	C	C	T	rs104893869		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:52896001C>T	uc003gzj.2	-	3	332	c.272G>A	c.(271-273)CGC>CAC	p.R91H	SGCB_uc011bzp.1_Missense_Mutation_p.R21H	NM_000232	NP_000223	Q16585	SGCB_HUMAN	sarcoglycan, beta	91	Extracellular (Potential).		R -> C (in LGMD2E).|R -> L (in LGMD2E).		cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma					0			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TGGTCCAATGCGAATCACGGC	0.388												
TMEM165	55858	broad.mit.edu	37	4	56283253	56283253	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:56283253G>A	uc003hax.2	+	3	715	c.448G>A	c.(448-450)GCC>ACC	p.A150T	TMEM165_uc011bzy.1_Missense_Mutation_p.A87T	NM_018475	NP_060945	Q9HC07	TM165_HUMAN	transmembrane protein 165	150						integral to membrane					0	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			GTTTGGCTATGCCACCACAGT	0.383												
POLR2B	5431	broad.mit.edu	37	4	57860640	57860640	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:57860640C>A	uc003hcl.1	+	4	357	c.314C>A	c.(313-315)CCT>CAT	p.P105H	POLR2B_uc011cae.1_Missense_Mutation_p.P98H|POLR2B_uc011caf.1_Missense_Mutation_p.P30H	NM_000938	NP_000929	P30876	RPB2_HUMAN	DNA directed RNA polymerase II polypeptide B	105					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(2)	2	Glioma(25;0.08)|all_neural(26;0.181)					GATGGTGCTCCTTCACCAATG	0.353												
POLR2B	5431	broad.mit.edu	37	4	57861549	57861549	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:57861549G>A	uc003hcl.1	+	6	752	c.709G>A	c.(709-711)GTT>ATT	p.V237I	POLR2B_uc011cae.1_Missense_Mutation_p.V230I|POLR2B_uc011caf.1_Missense_Mutation_p.V162I	NM_000938	NP_000929	P30876	RPB2_HUMAN	DNA directed RNA polymerase II polypeptide B	237					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(2)	2	Glioma(25;0.08)|all_neural(26;0.181)					TACTATATGGGTTAGCATGCT	0.403												
IGFBP7	3490	broad.mit.edu	37	4	57907023	57907023	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:57907023G>A	uc003hcn.2	-	2	574	c.552C>T	c.(550-552)ATC>ATT	p.I184I	IGFBP7_uc011cag.1_Silent_p.I184I	NM_001553	NP_001544	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	184	Ig-like C2-type.				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding			lung(2)|central_nervous_system(1)	3	Glioma(25;0.08)|all_neural(26;0.181)				Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCGGGATTCCGATGACCTCAC	0.537												
LPHN3	23284	broad.mit.edu	37	4	62801758	62801758	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:62801758G>A	uc010ihh.2	+	12	2383	c.2210G>A	c.(2209-2211)CGA>CAA	p.R737Q	LPHN3_uc003hcq.3_Missense_Mutation_p.R737Q|LPHN3_uc003hct.2_Missense_Mutation_p.R130Q	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	724	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						CAAAATGGCCGAAATGGTAGG	0.398												
UGT2A3	79799	broad.mit.edu	37	4	69795767	69795767	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:69795767G>A	uc003hef.2	-	6	1379	c.1348C>T	c.(1348-1350)CAA>TAA	p.Q450*	UGT2A3_uc010ihp.1_RNA	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family,	450	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(1)|skin(1)	2						TTTACAGGTTGATCATGGTGA	0.428												
ADAMTS3	9508	broad.mit.edu	37	4	73184422	73184422	+	Splice_Site	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:73184422C>T	uc003hgk.1	-	10	1390	c.1353_splice	c.e10-1	p.H451_splice		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1						collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTCATAGGAACTGTAGGAAGA	0.323												
SHROOM3	57619	broad.mit.edu	37	4	77661573	77661573	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:77661573G>A	uc011cbx.1	+	5	3200	c.2247G>A	c.(2245-2247)TCG>TCA	p.S749S	SHROOM3_uc011cbz.1_Silent_p.S573S|SHROOM3_uc003hkf.1_Silent_p.S624S|SHROOM3_uc003hkg.2_Silent_p.S527S	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	749					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			CTGCCCCCTCGCACCCGCACA	0.697												
C4orf22	255119	broad.mit.edu	37	4	81884720	81884720	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:81884720A>G	uc003hmf.2	+	6	705	c.656A>G	c.(655-657)TAC>TGC	p.Y219C	C4orf22_uc010ijp.2_Missense_Mutation_p.Y236C	NM_152770	NP_689983	Q6V702	CD022_HUMAN	hypothetical protein LOC255119	219										skin(2)	2						ACAGAACTCTACGTACAAGCT	0.338												
PRKG2	5593	broad.mit.edu	37	4	82090847	82090847	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:82090847C>T	uc003hmh.2	-	4	832	c.818G>A	c.(817-819)AGA>AAA	p.R273K	PRKG2_uc011cch.1_Missense_Mutation_p.R273K	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	273	cGMP 1.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						TTGTTCATCTCTAGCTTGGGC	0.363												
LIN54	132660	broad.mit.edu	37	4	83867618	83867618	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:83867618A>G	uc003hnx.3	-	5	1339	c.961T>C	c.(961-963)TCA>CCA	p.S321P	LIN54_uc003hnz.3_Missense_Mutation_p.S100P|LIN54_uc003hny.3_5'UTR|LIN54_uc010ijt.2_Missense_Mutation_p.S232P|LIN54_uc010iju.2_Intron|LIN54_uc010ijv.2_Missense_Mutation_p.S100P	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	lin-54 homolog isoform a	321					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Hepatocellular(203;0.114)				TGCACAGTTGATTTCACTGCC	0.388												
HELQ	113510	broad.mit.edu	37	4	84367233	84367233	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:84367233T>C	uc003hom.2	-	5	1578	c.1399A>G	c.(1399-1401)ATG>GTG	p.M467V	HELQ_uc010ikb.2_Missense_Mutation_p.M400V|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	DNA helicase HEL308	467	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|breast(1)|skin(1)	3						TCACCAATCATGTGCAACTTC	0.328								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function				
ARHGAP24	83478	broad.mit.edu	37	4	86916256	86916256	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:86916256C>T	uc003hpk.2	+	9	1898	c.1449C>T	c.(1447-1449)CGC>CGT	p.R483R	ARHGAP24_uc003hpl.2_Silent_p.R388R|ARHGAP24_uc010ikf.2_Silent_p.R398R|ARHGAP24_uc003hpm.2_Silent_p.R390R	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24 isoform 1	483					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)		GAACGGTGCGCATGGGCATTT	0.522												
KLHL8	57563	broad.mit.edu	37	4	88091651	88091651	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:88091651G>A	uc011cdb.1	-	7	1710	c.1325C>T	c.(1324-1326)ACA>ATA	p.T442I	KLHL8_uc003hql.1_Missense_Mutation_p.T442I|KLHL8_uc003hqm.1_Missense_Mutation_p.T366I|KLHL8_uc003hqn.1_Missense_Mutation_p.T259I|KLHL8_uc010ikj.1_Missense_Mutation_p.T91I	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	kelch-like 8	442	Kelch 3.										0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TGGTGCCACTGTACTCCACTG	0.408												
GRID2	2895	broad.mit.edu	37	4	94376883	94376883	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:94376883G>A	uc011cdt.1	+	11	1874	c.1616G>A	c.(1615-1617)CGT>CAT	p.R539H	GRID2_uc011cdu.1_Missense_Mutation_p.R444H	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	539	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TTTACGACACGTTACATGGAC	0.443												
BMPR1B	658	broad.mit.edu	37	4	96052564	96052564	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:96052564C>T	uc003htm.3	+	10	1251	c.977C>T	c.(976-978)CCA>CTA	p.P326L	BMPR1B_uc010ilb.2_Missense_Mutation_p.P326L|BMPR1B_uc003htn.3_Missense_Mutation_p.P326L	NM_001203	NP_001194	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	326	Cytoplasmic (Potential).|Protein kinase.				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			lung(4)|skin(2)|stomach(1)|breast(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		CAAGGCAAACCAGCAATTGCC	0.413												
TET2	54790	broad.mit.edu	37	4	106156409	106156409	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:106156409A>G	uc003hxk.2	+	3	1696	c.1310A>G	c.(1309-1311)TAC>TGC	p.Y437C	TET2_uc011cez.1_Missense_Mutation_p.Y458C|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.Y437C|TET2_uc003hxi.1_Missense_Mutation_p.Y437C	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	437					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)		CACCACCACTACCCCAACCAA	0.463			Mis N|F		MDS							
PAPSS1	9061	broad.mit.edu	37	4	108615044	108615044	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:108615044A>G	uc003hyk.2	-	3	378	c.294T>C	c.(292-294)AAT>AAC	p.N98N	PAPSS1_uc011cfh.1_RNA	NM_005443	NP_005434	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase	98	Adenylyl-sulfate kinase.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TAAAGCCAAGATTTTTATTGA	0.443												
LEF1	51176	broad.mit.edu	37	4	109084737	109084737	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:109084737G>A	uc003hyt.1	-	3	1056	c.401C>T	c.(400-402)CCC>CTC	p.P134L	LEF1_uc011cfj.1_Missense_Mutation_p.P19L|LEF1_uc011cfk.1_Missense_Mutation_p.P66L|LEF1_uc003hyu.1_Missense_Mutation_p.P134L|LEF1_uc003hyv.1_Missense_Mutation_p.P134L|LEF1_uc010imb.1_RNA	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1 isoform 1	134	Pro-rich.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			large_intestine(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TCTCGGGATGGGTGGAGAAAG	0.383												
PITX2	5308	broad.mit.edu	37	4	111553611	111553611	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:111553611A>G	uc003iad.2	-	3	654	c.72T>C	c.(70-72)TGT>TGC	p.C24C	PITX2_uc003iae.2_Intron|PITX2_uc010iml.2_5'UTR|PITX2_uc003iaf.2_Silent_p.C24C	NM_153426	NP_700475	Q99697	PITX2_HUMAN	paired-like homeodomain transcription factor 2	24					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TGGAGAAGAGACATTCAACGG	0.662												
USP53	54532	broad.mit.edu	37	4	120177651	120177651	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:120177651T>C	uc003ics.3	+	8	1608	c.542T>C	c.(541-543)GTG>GCG	p.V181A	USP53_uc003icr.3_Missense_Mutation_p.V181A|USP53_uc003icu.3_5'UTR	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	ubiquitin specific protease 53	181					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			ovary(1)|breast(1)|kidney(1)|skin(1)	4						ACAGAATTTGTGCGGTACATT	0.318												
USP53	54532	broad.mit.edu	37	4	120193037	120193037	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:120193037G>A	uc003ics.3	+	15	3088	c.2022G>A	c.(2020-2022)GTG>GTA	p.V674V	USP53_uc003icr.3_Silent_p.V674V|USP53_uc003icu.3_Silent_p.V297V|USP53_uc003ict.2_Silent_p.V297V	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	ubiquitin specific protease 53	674					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			ovary(1)|breast(1)|kidney(1)|skin(1)	4						AGGGTAAAGTGCATGGTGATA	0.393												
ADAD1	132612	broad.mit.edu	37	4	123301319	123301319	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:123301319C>T	uc003ieo.2	+	3	327	c.95C>T	c.(94-96)ACG>ATG	p.T32M	ADAD1_uc003iep.2_Missense_Mutation_p.T32M|ADAD1_uc003ieq.2_Missense_Mutation_p.T14M	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	32					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0						GCGACAAAGACGATAACTACA	0.473												
FAT4	79633	broad.mit.edu	37	4	126370100	126370100	+	Silent	SNP	C	C	T	rs146157250	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:126370100C>T	uc003ifj.3	+	9	7929	c.7929C>T	c.(7927-7929)GAC>GAT	p.D2643D	FAT4_uc011cgp.1_Silent_p.D941D|FAT4_uc003ifi.1_Silent_p.D121D	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2643	Extracellular (Potential).|Cadherin 25.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						aggccagagacggtggtttcc	0.134												
LARP1B	55132	broad.mit.edu	37	4	129012184	129012184	+	Silent	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:129012184T>C	uc003iga.2	+	6	518	c.387T>C	c.(385-387)GAT>GAC	p.D129D	LARP1B_uc003ifw.1_Silent_p.D82D|LARP1B_uc003ifx.2_Silent_p.D129D|LARP1B_uc003ify.2_Silent_p.D129D|LARP1B_uc003ifz.1_Silent_p.D129D	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family member 2	129	Arg-rich.						RNA binding				0						AAAAAAGGGATGATCAAGATG	0.398												
GAB1	2549	broad.mit.edu	37	4	144387375	144387375	+	Silent	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:144387375T>C	uc003ije.2	+	9	2282	c.1923T>C	c.(1921-1923)CGT>CGC	p.R641R	GAB1_uc003ijd.2_Silent_p.R671R|GAB1_uc011chq.1_Silent_p.R538R	NM_002039	NP_002030	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1 isoform b	641					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(2)|lung(1)|skin(1)	4	all_hematologic(180;0.158)					CACCACCACGTAAGGTGAGTG	0.398												
DCHS2	54798	broad.mit.edu	37	4	155254486	155254486	+	Silent	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:155254486T>C	uc003inw.2	-	9	1377	c.1377A>G	c.(1375-1377)CCA>CCG	p.P459P	DCHS2_uc003inx.2_Silent_p.P958P	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	459	Cadherin 3.				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)		TGCTGCAGGCTGGGGCGCTGC	0.607												
LRAT	9227	broad.mit.edu	37	4	155665562	155665562	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:155665562C>T	uc003iom.1	+	1	411	c.84C>T	c.(82-84)GGC>GGT	p.G28G	uc003iol.2_Intron|LRAT_uc003ion.1_Silent_p.G28G	NM_004744	NP_004735	O95237	LRAT_HUMAN	lecithin retinol acyltransferase	28	Cytoplasmic (By similarity).				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)	1	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TTAGTTCGGGCGCCGCGGGCG	0.572												
RBM46	166863	broad.mit.edu	37	4	155720533	155720533	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:155720533T>A	uc003ioo.2	+	4	1392	c.1219T>A	c.(1219-1221)TGG>AGG	p.W407R	RBM46_uc011cim.1_Missense_Mutation_p.W407R|RBM46_uc003iop.1_Missense_Mutation_p.W407R	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	407							nucleotide binding|RNA binding			central_nervous_system(1)|skin(1)	2	all_hematologic(180;0.24)	Renal(120;0.0854)				CAAAAATAACTGGGCACCACC	0.328												
GRIA2	2891	broad.mit.edu	37	4	158254500	158254500	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:158254500C>T	uc003ipm.3	+	8	1609	c.1150C>T	c.(1150-1152)CGG>TGG	p.R384W	GRIA2_uc011cit.1_Missense_Mutation_p.R337W|GRIA2_uc003ipl.3_Missense_Mutation_p.R384W|GRIA2_uc003ipk.3_Missense_Mutation_p.R337W|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	384	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|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			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TAATGGGCCCCGGAAGGTAAA	0.398												
TRIM60	166655	broad.mit.edu	37	4	165961522	165961522	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:165961522C>T	uc003iqy.1	+	3	468	c.298C>T	c.(298-300)CAC>TAC	p.H100Y	TRIM60_uc010iqx.1_Missense_Mutation_p.H100Y	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	ring finger protein 129	100	B box-type.					intracellular	zinc ion binding			skin(1)	1	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GTGTGAAAAACACAACCAGTT	0.428												
DDX60L	91351	broad.mit.edu	37	4	169393087	169393087	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:169393087C>T	uc003irq.3	-	4	296	c.75G>A	c.(73-75)GGG>GGA	p.G25G	DDX60L_uc003irr.1_Silent_p.G25G|DDX60L_uc003irt.1_Silent_p.G25G	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	25							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TGCTGGAATACCTAAAATAAA	0.289												
IRF2	3660	broad.mit.edu	37	4	185339800	185339800	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:185339800C>G	uc003iwf.3	-	4	450	c.250G>C	c.(250-252)GCC>CCC	p.A84P		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	84	IRF tryptophan pentad repeat.				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GAATTCATGGCGCATCTGAAA	0.398												
CCDC110	256309	broad.mit.edu	37	4	186379494	186379494	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:186379494G>A	uc003ixu.3	-	6	2323	c.2247C>T	c.(2245-2247)TAC>TAT	p.Y749Y	CCDC110_uc003ixv.3_Silent_p.Y712Y|CCDC110_uc011ckt.1_Silent_p.Y749Y	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	749	Potential.					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)		TGCTTCTTACGTAATTTTCTA	0.284												
SORBS2	8470	broad.mit.edu	37	4	186583258	186583258	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:186583258C>T	uc003iyl.2	-	5	952	c.94G>A	c.(94-96)GAT>AAT	p.D32N	SORBS2_uc003iyh.2_Missense_Mutation_p.D211N|SORBS2_uc011ckw.1_Missense_Mutation_p.D101N|SORBS2_uc003iyi.2_Missense_Mutation_p.D118N|SORBS2_uc011ckx.1_Missense_Mutation_p.D78N|SORBS2_uc003iyk.2_Missense_Mutation_p.D118N|SORBS2_uc003iym.2_Missense_Mutation_p.D132N|SORBS2_uc003iyn.1_Missense_Mutation_p.D78N|SORBS2_uc011cky.1_Missense_Mutation_p.D95N|SORBS2_uc003iyp.2_Missense_Mutation_p.D132N|SORBS2_uc003iyd.2_Missense_Mutation_p.D211N|SORBS2_uc003iye.2_Missense_Mutation_p.D32N|SORBS2_uc003iya.2_Missense_Mutation_p.D32N|SORBS2_uc003iyb.2_Missense_Mutation_p.D32N|SORBS2_uc003iyc.2_Missense_Mutation_p.D32N|SORBS2_uc003iyg.2_Missense_Mutation_p.D118N|SORBS2_uc003iyf.2_Missense_Mutation_p.D95N	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	32						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AATTACTTACCGAGGGATGTG	0.527												
ZDHHC11	79844	broad.mit.edu	37	5	840720	840720	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:840720G>A	uc011cma.1	-	5	1058	c.674C>T	c.(673-675)CCG>CTG	p.P225L	ZDHHC11_uc003jbj.2_RNA|ZDHHC11_uc010itd.1_RNA|ZDHHC11_uc003jbk.2_Missense_Mutation_p.P12L	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	225						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)|pancreas(1)	2			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CACCTGCACCGGGAACAGGGG	0.587												
IRX1	79192	broad.mit.edu	37	5	3599758	3599758	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:3599758G>C	uc003jde.2	+	2	748	c.696G>C	c.(694-696)AAG>AAC	p.K232N		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	232						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						ACATTGACAAGATCGACGAGC	0.642												
ADAMTS16	170690	broad.mit.edu	37	5	5306831	5306831	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:5306831C>T	uc003jdl.2	+	21	3539	c.3401C>T	c.(3400-3402)CCC>CTC	p.P1134L		NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1134	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						TTTGCCTCACCCTGGTCTCAG	0.697												
SEMA5A	9037	broad.mit.edu	37	5	9154620	9154620	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:9154620G>A	uc003jek.2	-	12	2173	c.1461C>T	c.(1459-1461)TGC>TGT	p.C487C		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	487	Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						GGTAGAACTGGCACCTCTTCA	0.637												
FAM173B	134145	broad.mit.edu	37	5	10239372	10239372	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:10239372A>G	uc003jeo.2	-	2	142	c.113T>C	c.(112-114)TTC>TCC	p.F38S	FAM173B_uc003jep.2_RNA|FAM173B_uc010itr.2_Missense_Mutation_p.F38S	NM_199133	NP_954584	Q6P4H8	F173B_HUMAN	hypothetical protein LOC134145	38	Helical; (Potential).					integral to membrane				kidney(1)|central_nervous_system(1)	2						AGTAAGTAAGAACCCCCAGTT	0.478												
CCT5	22948	broad.mit.edu	37	5	10260965	10260965	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:10260965A>G	uc003jeq.2	+	7	1106	c.935A>G	c.(934-936)CAC>CGC	p.H312R	CCT5_uc011cmq.1_Missense_Mutation_p.H159R|CCT5_uc003jer.2_Missense_Mutation_p.H312R|CCT5_uc010its.2_Missense_Mutation_p.H312R|CCT5_uc011cmr.1_Missense_Mutation_p.H257R|CCT5_uc011cms.1_Missense_Mutation_p.H274R|CCT5_uc011cmt.1_Missense_Mutation_p.H219R	NM_012073	NP_036205	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	312					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			ovary(2)	2						GAAGCAAATCACTTACTTCTT	0.448												
DNAH5	1767	broad.mit.edu	37	5	13928247	13928247	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:13928247C>T	uc003jfd.2	-	3	275	c.233G>A	c.(232-234)CGA>CAA	p.R78Q	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	78	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)					CATGAGGTGTCGGAGACCTCC	0.348									Kartagener_syndrome			
ANKH	56172	broad.mit.edu	37	5	14713763	14713763	+	Silent	SNP	C	C	T	rs146419748		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:14713763C>T	uc003jfm.3	-	10	1486	c.1155G>A	c.(1153-1155)GCG>GCA	p.A385A	ANKH_uc003jfl.3_Silent_p.A98A	NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	progressive ankylosis protein	385	Cytoplasmic (Potential).				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			upper_aerodigestive_tract(1)	1						CGGTGAGATGCGCCCTCACTG	0.617												
CDH6	1004	broad.mit.edu	37	5	31267788	31267788	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:31267788G>A	uc003jhe.1	+	2	534	c.208G>A	c.(208-210)GAT>AAT	p.D70N	CDH6_uc003jhd.1_Missense_Mutation_p.D70N	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	70	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7						CACAGGATCCGATTATCAGTA	0.443												
PDZD2	23037	broad.mit.edu	37	5	32061224	32061224	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:32061224G>A	uc003jhl.2	+	14	2823	c.2435G>A	c.(2434-2436)CGG>CAG	p.R812Q	PDZD2_uc003jhm.2_Missense_Mutation_p.R812Q|PDZD2_uc011cnx.1_Missense_Mutation_p.R638Q	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	812	PDZ 4.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GTCATCGGCCGGCACCCTAAT	0.522												
SLC45A2	51151	broad.mit.edu	37	5	33963963	33963963	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:33963963G>T	uc003jid.2	-	3	813	c.721C>A	c.(721-723)CCA>ACA	p.P241T	SLC45A2_uc003jie.2_Missense_Mutation_p.P241T|SLC45A2_uc003jif.3_Intron|SLC45A2_uc011coe.1_Intron	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	membrane-associated transporter protein isoform	241	Cytoplasmic (Potential).				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						TCTGTAAGTGGGGCTTCAGAG	0.473												
SPEF2	79925	broad.mit.edu	37	5	35694403	35694403	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:35694403T>C	uc003jjo.2	+	13	2024	c.1913T>C	c.(1912-1914)GTA>GCA	p.V638A	SPEF2_uc003jjq.3_Missense_Mutation_p.V638A|SPEF2_uc003jjp.1_Missense_Mutation_p.V129A	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	638					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACAACATGTATTTTCAGCT	0.318												
PARP8	79668	broad.mit.edu	37	5	50090845	50090845	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:50090845G>A	uc003jon.3	+	13	1204	c.1022G>A	c.(1021-1023)GGC>GAC	p.G341D	PARP8_uc011cpz.1_Missense_Mutation_p.G233D|PARP8_uc003joo.2_Missense_Mutation_p.G341D|PARP8_uc003jop.2_Missense_Mutation_p.G341D	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	341						intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)				AGGACCTTTGGCCGCTCCTTG	0.522												
CDC20B	166979	broad.mit.edu	37	5	54423154	54423154	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:54423154C>T	uc003jpo.1	-	8	1095	c.920G>A	c.(919-921)CGG>CAG	p.R307Q	CDC20B_uc003jpn.1_Missense_Mutation_p.R307Q|CDC20B_uc010ivu.1_Missense_Mutation_p.R307Q|CDC20B_uc010ivv.1_Missense_Mutation_p.R307Q	NM_152623	NP_689836	Q86Y33	CD20B_HUMAN	CDC20 cell division cycle 20 homolog B isoform	307	WD 2.										0		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			ATTTCTCAGCCGCTTTTTAGT	0.438												
RAB3C	115827	broad.mit.edu	37	5	58120900	58120900	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:58120900C>T	uc003jrp.2	+	4	504	c.407C>T	c.(406-408)GCC>GTC	p.A136V		NM_138453	NP_612462	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	136					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			ovary(1)|central_nervous_system(1)	2		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		TGGGACAATGCCCAAGTTATT	0.413												
IPO11	51194	broad.mit.edu	37	5	61822085	61822085	+	Splice_Site	SNP	G	G	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:61822085G>C	uc003jtc.2	+	21	2202	c.2012_splice	c.e21+1	p.W671_splice	IPO11_uc011cqr.1_Splice_Site_p.W711_splice|IPO11_uc003jtd.1_Splice_Site|IPO11_uc010iwr.2_Intron	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN	Ran binding protein 11 isoform 2							cytoplasm|nucleus	protein binding			lung(2)|skin(2)	4		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TAGAATTATGGTAAGAGGAAA	0.383												
ERBB2IP	55914	broad.mit.edu	37	5	65319175	65319175	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:65319175C>A	uc003juk.1	+	9	963	c.655C>A	c.(655-657)CTG>ATG	p.L219M	ERBB2IP_uc003juh.1_Missense_Mutation_p.L219M|ERBB2IP_uc003jui.1_Missense_Mutation_p.L219M|ERBB2IP_uc003juj.1_Missense_Mutation_p.L219M|ERBB2IP_uc011cqx.1_Missense_Mutation_p.L219M|ERBB2IP_uc011cqy.1_Missense_Mutation_p.L219M|ERBB2IP_uc011cqz.1_Missense_Mutation_p.L219M|ERBB2IP_uc010iwx.1_Missense_Mutation_p.L219M|ERBB2IP_uc003jul.1_Missense_Mutation_p.L219M	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	219	LRR 9.				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)	7		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TGCTAATAGACTGACTTTTAT	0.348												
CCDC125	202243	broad.mit.edu	37	5	68590716	68590716	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:68590716G>A	uc003jvv.1	-	8	871	c.828C>T	c.(826-828)CTC>CTT	p.L276L	CCDC125_uc003jvx.1_Silent_p.L275L|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_Silent_p.L151L	NM_176816	NP_789786	Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	276						cytoplasm					0		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		GGCAGGCTCCGAGGACCGCAA	0.488												
GTF2H2C	728340	broad.mit.edu	37	5	68875669	68875669	+	Silent	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:68875669T>C	uc003jwx.3	+	11	806	c.735T>C	c.(733-735)TCT>TCC	p.S245S	GTF2H2C_uc003jww.1_3'UTR|GTF2H2C_uc003jwz.3_Silent_p.S245S|GTF2H2C_uc011cre.1_Silent_p.S188S|GTF2H2C_uc003jwy.3_Silent_p.S245S|GTF2H2C_uc003jxa.1_5'Flank	NM_001098728	NP_001092198	Q6P1K8	T2H2L_HUMAN	general transcription factor IIH, polypeptide	245					DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding				0						GCTCAAGTTCTGAATGCTCAC	0.328												
CARTPT	9607	broad.mit.edu	37	5	71015123	71015123	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:71015123G>A	uc003kbv.1	+	1	130	c.3G>A	c.(1-3)ATG>ATA	p.M1I		NM_004291	NP_004282	Q16568	CART_HUMAN	cocaine- and amphetamine-regulated transcript	1					activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space				ovary(1)	1		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	TCAGAACGATGGAGAGCTCCC	0.652												
ZNF366	167465	broad.mit.edu	37	5	71756924	71756924	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:71756924C>T	uc003kce.1	-	2	586	c.400G>A	c.(400-402)GTG>ATG	p.V134M		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGGAAGCCCACGTTGCACAGG	0.607												
DMGDH	29958	broad.mit.edu	37	5	78324348	78324348	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:78324348T>C	uc003kfs.2	-	12	1946	c.1940A>G	c.(1939-1941)GAA>GGA	p.E647G	DMGDH_uc011cte.1_Missense_Mutation_p.E497G|DMGDH_uc011ctf.1_Missense_Mutation_p.E446G|DMGDH_uc011ctg.1_Missense_Mutation_p.E267G	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor	647					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)|skin(1)	4		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		ACTAAGATCTTCAGAGGTCAG	0.388												
EDIL3	10085	broad.mit.edu	37	5	83476311	83476311	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:83476311A>G	uc003kio.1	-	4	674	c.255T>C	c.(253-255)AAT>AAC	p.N85N	EDIL3_uc003kip.1_Silent_p.N75N	NM_005711	NP_005702	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like	85	EGF-like 2.				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)		AGGTTCCTCCATTATGGCATG	0.393												
CETN3	1070	broad.mit.edu	37	5	89695208	89695208	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:89695208T>C	uc003kjo.2	-	4	552	c.427A>G	c.(427-429)ATA>GTA	p.I143V		NM_004365	NP_004356	O15182	CETN3_HUMAN	centrin 3	143	EF-hand 4.				cell division|centrosome cycle|mitosis	centriole	calcium ion binding				0		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		AATTCTTCTATCATAGCTCGA	0.343												
MBLAC2	153364	broad.mit.edu	37	5	89757254	89757254	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:89757254G>A	uc003kjp.2	-	2	1046	c.570C>T	c.(568-570)GTC>GTT	p.V190V		NM_203406	NP_981951	Q68D91	MBLC2_HUMAN	beta-lactamase-like	190							hydrolase activity|metal ion binding				0						CATCATACACGACGTCTCCAC	0.463												
GPR98	84059	broad.mit.edu	37	5	90052364	90052364	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:90052364C>T	uc003kju.2	+	56	11770	c.11674C>T	c.(11674-11676)CGG>TGG	p.R3892W	GPR98_uc003kjt.2_Missense_Mutation_p.R1598W|GPR98_uc003kjv.2_Missense_Mutation_p.R1492W	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	3892	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCCAAGTGTGCGGAGGCCCGG	0.438												
SPATA9	83890	broad.mit.edu	37	5	94994442	94994442	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:94994442G>A	uc003klj.1	-	5	806	c.650C>T	c.(649-651)CCG>CTG	p.P217L	SPATA9_uc010jbh.1_Intron|SPATA9_uc003klh.1_RNA|SPATA9_uc003kli.1_RNA	NM_031952	NP_114158	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	217					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)		TGGCTTCTCCGGCAATGACCT	0.408												
LNPEP	4012	broad.mit.edu	37	5	96328734	96328734	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:96328734G>A	uc003kmv.1	+	5	1661	c.1147G>A	c.(1147-1149)GTA>ATA	p.V383I	LNPEP_uc003kmw.1_Missense_Mutation_p.V369I	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase isoform 1	383	Extracellular (Potential).				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TATATATGCTGTACCAGAAAA	0.343												
ST8SIA4	7903	broad.mit.edu	37	5	100147699	100147699	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:100147699G>A	uc003knk.2	-	5	1260	c.932C>T	c.(931-933)GCG>GTG	p.A311V		NM_005668	NP_005659	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide	311	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)		ATATTTGACCGCTTTTCCATT	0.373												
SLCO4C1	353189	broad.mit.edu	37	5	101631748	101631748	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:101631748C>T	uc003knm.2	-	1	506	c.219G>A	c.(217-219)GAG>GAA	p.E73E		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	73	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ACCGGAGCTTCTCTTCGGAGA	0.572												
SEMA6A	57556	broad.mit.edu	37	5	115813758	115813758	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:115813758A>G	uc010jck.2	-	14	2229	c.1520T>C	c.(1519-1521)GTG>GCG	p.V507A	SEMA6A_uc003krx.3_Missense_Mutation_p.V507A|SEMA6A_uc003krw.3_Missense_Mutation_p.V39A|SEMA6A_uc010jcj.2_Missense_Mutation_p.V51A	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	507	Sema.|Extracellular (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		AACCTTTATCACACAGGTAGA	0.448												
FTMT	94033	broad.mit.edu	37	5	121188033	121188033	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:121188033C>T	uc003kss.2	+	1	384	c.375C>T	c.(373-375)CAC>CAT	p.H125H		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial precursor	125	Ferritin-like diiron.	Iron 1.			cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			ovary(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		AGACCGAGCACGCGGAGAAGC	0.587												
GRAMD3	65983	broad.mit.edu	37	5	125759363	125759363	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:125759363G>A	uc003ktu.2	+	1	495	c.65G>A	c.(64-66)AGC>AAC	p.S22N	GRAMD3_uc011cwt.1_Intron|GRAMD3_uc011cwv.1_Missense_Mutation_p.A16T|GRAMD3_uc011cww.1_5'UTR|GRAMD3_uc011cwx.1_RNA|GRAMD3_uc011cwu.1_Intron	NM_023927	NP_076416	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3 isoform 2	22										central_nervous_system(1)	1		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		AAGAGGGAGAGCAAACTTGGC	0.577												
ADAMTS19	171019	broad.mit.edu	37	5	128984535	128984535	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:128984535A>G	uc003kvb.1	+	13	2030	c.2030A>G	c.(2029-2031)TAC>TGC	p.Y677C	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	677	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)		AGAAAACAATACAGAATATGT	0.378												
C5orf56	441108	broad.mit.edu	37	5	131796357	131796357	+	Silent	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:131796357T>C	uc003kwy.1	+	4	323	c.192T>C	c.(190-192)CAT>CAC	p.H64H	C5orf56_uc003kwz.1_Intron|C5orf56_uc010jds.1_Intron|IRF1_uc003kxd.2_Intron	NM_001013717	NP_001013739	Q8N8D9	CE056_HUMAN	hypothetical protein LOC441108	64											0						agtacagccatgctgtctgct	0.05												
C5orf56	441108	broad.mit.edu	37	5	131822135	131822135	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:131822135C>T	uc010jds.1	+	4	471	c.296C>T	c.(295-297)CCG>CTG	p.P99L	IRF1_uc003kxd.2_Intron|IRF1_uc003kxa.2_Intron|IRF1_uc003kxb.2_Intron|IRF1_uc010jdt.1_Intron			Q8N8D9	CE056_HUMAN	Homo sapiens full length insert cDNA clone ZA99C08.	Error:Variant_position_missing_in_Q8N8D9_after_alignment											0						GAGCGCCCTCCGACCAACCCT	0.577												
FSTL4	23105	broad.mit.edu	37	5	132560966	132560966	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:132560966G>A	uc003kyn.1	-	10	1406	c.1188C>T	c.(1186-1188)AGC>AGT	p.S396S	FSTL4_uc003kym.1_Missense_Mutation_p.A3V	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	follistatin-like 4 precursor	396	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTGGAGTTCGCTCCCATTGG	0.532												
PSD2	84249	broad.mit.edu	37	5	139193088	139193088	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:139193088G>A	uc003leu.1	+	3	771	c.566G>A	c.(565-567)CGT>CAT	p.R189H		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	189					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)			CAGCGGGCCCGTGACAGCCCT	0.682												
SLC35A4	113829	broad.mit.edu	37	5	139946788	139946788	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:139946788G>T	uc003lgg.1	+	3	762	c.34G>T	c.(34-36)GGC>TGC	p.G12C	APBB3_uc003lgc.1_5'Flank|APBB3_uc003lgd.1_5'Flank|APBB3_uc003lge.1_5'Flank|APBB3_uc003lgf.1_5'Flank|APBB3_uc010jfp.1_5'Flank|APBB3_uc011czi.1_5'Flank|APBB3_uc010jfr.1_5'Flank|SLC35A4_uc003lgh.1_Missense_Mutation_p.G12C	NM_080670	NP_542401	Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	12						Golgi membrane|integral to membrane	sugar:hydrogen symporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAGGCCTGGGCCGTCCCAG	0.607												
DND1	373863	broad.mit.edu	37	5	140052887	140052887	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140052887G>A	uc003lgt.2	-	2	155	c.111C>T	c.(109-111)AAC>AAT	p.N37N		NM_194249	NP_919225	Q8IYX4	DND1_HUMAN	dead end homolog 1	37					multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTCTGCCCGTTCACCTGCA	0.667												
PCDHA1	56147	broad.mit.edu	37	5	140166202	140166202	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140166202C>T	uc003lhb.2	+	1	327	c.327C>T	c.(325-327)ATC>ATT	p.I109I	PCDHA1_uc003lha.2_Silent_p.I109I|PCDHA1_uc003lgz.2_Silent_p.I109I	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	109	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGTTGATCGCCGACAGGC	0.498												
PCDHA2	56146	broad.mit.edu	37	5	140174554	140174554	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140174554C>T	uc003lhd.2	+	1	111	c.5C>T	c.(4-6)GCG>GTG	p.A2V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A2V|PCDHA2_uc011czy.1_Missense_Mutation_p.A2V	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	2					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)			TTGGTAATGGCGTCTTCTATC	0.502												
PCDHA5	56143	broad.mit.edu	37	5	140202649	140202649	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140202649G>A	uc003lhl.2	+	1	1289	c.1289G>A	c.(1288-1290)GGC>GAC	p.G430D	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.G430D|PCDHA5_uc003lhj.1_Missense_Mutation_p.G430D	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	430	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGACGGGGGCTCGCCTTCG	0.647												
PCDHA7	56141	broad.mit.edu	37	5	140215225	140215225	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140215225C>T	uc003lhq.2	+	1	1257	c.1257C>T	c.(1255-1257)TCC>TCT	p.S419S	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_uc011dac.1_Silent_p.S419S	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	419	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGTGTGTCCGCCTATGAGC	0.627												
PCDHA7	56141	broad.mit.edu	37	5	140215333	140215333	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140215333C>T	uc003lhq.2	+	1	1365	c.1365C>T	c.(1363-1365)TTC>TTT	p.F455F	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_uc011dac.1_Silent_p.F455F	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	455	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCGGCGTTCGCGCAGCCCG	0.677												
PCDHAC2	56134	broad.mit.edu	37	5	140348144	140348144	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140348144C>T	uc003lii.2	+	1	2033	c.1793C>T	c.(1792-1794)GCC>GTC	p.A598V	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_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.A598V	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	598	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCGAACTGCCCCTGCTGGC	0.522												
PCDHB1	29930	broad.mit.edu	37	5	140431398	140431398	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140431398C>T	uc003lik.1	+	1	420	c.343C>T	c.(343-345)CAG>TAG	p.Q115*		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	115	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGCCGCTGCAGTCCTTCCG	0.507												
PCDHB1	29930	broad.mit.edu	37	5	140431483	140431483	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140431483C>T	uc003lik.1	+	1	505	c.428C>T	c.(427-429)CCG>CTG	p.P143L		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	143	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTAAAGATTCCGGAGAGCACC	0.552												
PCDHB5	26167	broad.mit.edu	37	5	140515561	140515561	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140515561C>T	uc003liq.2	+	1	762	c.545C>T	c.(544-546)ACG>ATG	p.T182M		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	182	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATGTTGCTACGCATAATCGC	0.502												
PCDHB6	56130	broad.mit.edu	37	5	140531365	140531365	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140531365C>T	uc003lir.2	+	1	1527	c.1527C>T	c.(1525-1527)GGC>GGT	p.G509G	PCDHB6_uc011dah.1_Silent_p.G373G	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	509	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGACAACGGCCACCTGTTTG	0.672												
PCDHB8	56128	broad.mit.edu	37	5	140558115	140558115	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140558115A>G	uc011dai.1	+	1	686	c.500A>G	c.(499-501)AAT>AGT	p.N167S	PCDHB16_uc003liv.2_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	167	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCCAAAACAATATTGAGAAC	0.463												
PCDHB12	56124	broad.mit.edu	37	5	140588900	140588900	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140588900G>C	uc003liz.2	+	1	610	c.421G>C	c.(421-423)GAA>CAA	p.E141Q	PCDHB12_uc011dak.1_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	141	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGCTCTTAGAAATCCCAGA	0.393												
PCDHGA1	56114	broad.mit.edu	37	5	140712592	140712592	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140712592A>G	uc003lji.1	+	1	2341	c.2341A>G	c.(2341-2343)AGC>GGC	p.S781G	PCDHGA1_uc011dan.1_Missense_Mutation_p.S781G	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	781	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACACTCATCAGCCAGGAGAG	0.498												
PCDHGB1	56104	broad.mit.edu	37	5	140731932	140731932	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140731932C>T	uc003ljo.1	+	1	2105	c.2105C>T	c.(2104-2106)GCG>GTG	p.A702V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA4_uc003ljq.1_5'Flank|PCDHGB1_uc011daq.1_Missense_Mutation_p.A702V|PCDHGA4_uc003ljp.1_5'Flank	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	702	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCTCCTCGCGGTGATTCTA	0.617												
PCDHGA10	56106	broad.mit.edu	37	5	140794669	140794669	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140794669A>G	uc003lkl.1	+	1	1927	c.1927A>G	c.(1927-1929)AAG>GAG	p.K643E	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.K643E|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	643	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACGCGCTCAAGCAAAGCCT	0.697												
PCDHGA12	26025	broad.mit.edu	37	5	140811073	140811073	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140811073G>A	uc003lkt.1	+	1	916	c.747G>A	c.(745-747)GCG>GCA	p.A249A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.A249A	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	249	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTACCGCGCGAGCGTTCCGG	0.632												
PCDHGA12	26025	broad.mit.edu	37	5	140812291	140812291	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:140812291C>T	uc003lkt.1	+	1	2134	c.1965C>T	c.(1963-1965)TCC>TCT	p.S655S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.S655S	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	655	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCTCTCTCCGCCACTGTCA	0.682												
PRELID2	153768	broad.mit.edu	37	5	145199532	145199532	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:145199532G>A	uc003lnp.1	-	3	236	c.183C>T	c.(181-183)AAC>AAT	p.N61N	PRELID2_uc003lnq.1_Silent_p.N61N|PRELID2_uc003lno.1_Silent_p.N32N|PRELID2_uc003lnr.1_Silent_p.N61N	NM_182960	NP_892005	Q8N945	PRLD2_HUMAN	PRELI domain containing 2 isoform a	61	PRELI/MSF1.										0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGAACCACGTTCTGACAGA	0.284												
DPYSL3	1809	broad.mit.edu	37	5	146788290	146788290	+	Splice_Site	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:146788290C>T	uc003lon.1	-	7	800	c.690_splice	c.e7+1	p.E230_splice	DPYSL3_uc003loo.2_Splice_Site_p.E344_splice	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3						axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTAACTTACCTCTTCTGGC	0.433												
FBXO38	81545	broad.mit.edu	37	5	147813209	147813209	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:147813209A>G	uc003lpf.1	+	17	2886	c.2766A>G	c.(2764-2766)TTA>TTG	p.L922L	FBXO38_uc003lpg.1_Silent_p.L847L|FBXO38_uc003lph.2_Silent_p.L677L	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	922						cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTTGTATTAAAATCCAAGA	0.333												
ADRB2	154	broad.mit.edu	37	5	148206896	148206896	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:148206896C>T	uc003lpr.1	+	1	741	c.502C>T	c.(502-504)CCC>TCC	p.P168S	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	adrenergic, beta-2-, receptor, surface	168	Helical; Name=4.				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	CTCCTTCTTGCCCATTCAGAT	0.517												
FAT2	2196	broad.mit.edu	37	5	150931050	150931050	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:150931050C>T	uc003lue.3	-	6	4287	c.4274G>A	c.(4273-4275)GGG>GAG	p.G1425E	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1425	Extracellular (Potential).|Cadherin 12.				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)			GGTGCGGGACCCATCTGTCAC	0.532												
FAT2	2196	broad.mit.edu	37	5	150946645	150946645	+	Silent	SNP	G	G	A	rs79269043	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:150946645G>A	uc003lue.3	-	1	1861	c.1848C>T	c.(1846-1848)TCC>TCT	p.S616S	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Silent_p.S616S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	616	Extracellular (Potential).|Cadherin 5.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATATCACTCCGGAGAAATGAT	0.403												
FAM71B	153745	broad.mit.edu	37	5	156590335	156590335	+	Missense_Mutation	SNP	G	G	A	rs146575394		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:156590335G>A	uc003lwn.2	-	2	1041	c.941C>T	c.(940-942)GCG>GTG	p.A314V		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	314	Ala-rich.					nucleus				ovary(4)|pancreas(1)|skin(1)	6	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGCTGCTCCCGCCAGCGCTGT	0.527												
EBF1	1879	broad.mit.edu	37	5	158204430	158204430	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:158204430T>C	uc010jip.2	-	10	1329	c.1027A>G	c.(1027-1029)ATT>GTT	p.I343V	EBF1_uc011ddw.1_Missense_Mutation_p.I211V|EBF1_uc011ddx.1_Missense_Mutation_p.I344V|EBF1_uc003lxl.3_Missense_Mutation_p.I312V	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	343	IPT/TIG.				multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTGTATAAATGAATCTGCCT	0.473			T	HMGA2	lipoma							
GABRA6	2559	broad.mit.edu	37	5	161116284	161116284	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:161116284C>T	uc003lyu.2	+	5	809	c.471C>T	c.(469-471)CCC>CCT	p.P157P	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	157	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTGACTGTCCCATGAGGCTGG	0.413										TCGA Ovarian(5;0.080)		
HMMR	3161	broad.mit.edu	37	5	162909718	162909718	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:162909718G>A	uc003lzf.2	+	13	1635	c.1453G>A	c.(1453-1455)GCC>ACC	p.A485T	HMMR_uc003lzh.2_Missense_Mutation_p.A486T|HMMR_uc003lzg.2_Missense_Mutation_p.A470T|HMMR_uc011dem.1_Missense_Mutation_p.A399T|uc003lzi.2_RNA	NM_012484	NP_036616	O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor isoform b	485						cell surface|cytoplasm	hyaluronic acid binding				0	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		GGAAAAAGCGGCCAAGGCTGG	0.373												
WWC1	23286	broad.mit.edu	37	5	167850695	167850695	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:167850695C>T	uc003lzu.2	+	11	1525	c.1432C>T	c.(1432-1434)CAG>TAG	p.Q478*	WWC1_uc003lzv.2_Nonsense_Mutation_p.Q478*|WWC1_uc011den.1_Nonsense_Mutation_p.Q478*|WWC1_uc003lzw.2_Nonsense_Mutation_p.Q277*	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1 isoform 3	478					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			ovary(2)|skin(2)|breast(1)	5	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CTCAGAGCTGCAGAGCAAGGT	0.622												
LCP2	3937	broad.mit.edu	37	5	169697783	169697783	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:169697783C>T	uc003man.1	-	7	670	c.463G>A	c.(463-465)GCT>ACT	p.A155T	LCP2_uc011det.1_5'UTR|LCP2_uc010jjo.1_5'Flank	NM_005565	NP_005556	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2	155					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)		TTCTGCAGAGCTTCCTCGTCA	0.577												
STK10	6793	broad.mit.edu	37	5	171481591	171481591	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:171481591G>A	uc003mbo.1	-	17	2934	c.2634C>T	c.(2632-2634)AGC>AGT	p.S878S		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10	878	Gln-rich.|Potential.						ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCTGCAGCTCGCTCATGTTGC	0.627												
KIAA1191	57179	broad.mit.edu	37	5	175774604	175774604	+	Nonstop_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:175774604T>C	uc003mdw.2	-	9	1289	c.917A>G	c.(916-918)TAG>TGG	p.*306W	KIAA1191_uc003mdx.2_Nonstop_Mutation_p.*287W|KIAA1191_uc003mdy.2_Nonstop_Mutation_p.*306W|KIAA1191_uc003mea.2_Nonstop_Mutation_p.*99W|KIAA1191_uc003mdz.2_RNA	NM_020444	NP_065177	Q96A73	K1191_HUMAN	hypothetical protein LOC57179 isoform a	306							protein binding			ovary(1)	1	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		AAGAGGGCTCTAGAAGCCAGT	0.483												
EIF4E1B	253314	broad.mit.edu	37	5	176070674	176070674	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:176070674C>T	uc010jkf.1	+	5	819	c.235C>T	c.(235-237)CGG>TGG	p.R79W		NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E	79					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity				0	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGACCGCAGCCGGGCCTGGCA	0.647												
NSD1	64324	broad.mit.edu	37	5	176673695	176673695	+	Silent	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:176673695T>C	uc003mfr.3	+	10	4533	c.4395T>C	c.(4393-4395)TTT>TTC	p.F1465F	NSD1_uc003mft.3_Silent_p.F1196F|NSD1_uc003mfs.1_Silent_p.F1362F|NSD1_uc011dfx.1_Silent_p.F1113F	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1465					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)		CCAAGATATTTGACAAGCCAA	0.398			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)		
ADAMTS2	9509	broad.mit.edu	37	5	178555066	178555066	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:178555066A>G	uc003mjw.2	-	17	2511	c.2511T>C	c.(2509-2511)CAT>CAC	p.H837H		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	837	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTGAGTCCTCATGGATCATGT	0.572												
GFPT2	9945	broad.mit.edu	37	5	179751867	179751867	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:179751867G>A	uc003mlw.1	-	8	723	c.625C>T	c.(625-627)CGG>TGG	p.R209W		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	209	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			ovary(1)|skin(1)	2	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TATTTGCTCCGGACTCCGATG	0.547												
MGAT1	4245	broad.mit.edu	37	5	180219105	180219105	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:180219105G>A	uc003mmg.3	-	2	1362	c.867C>T	c.(865-867)GAC>GAT	p.D289D	MGAT1_uc010jlf.2_Silent_p.D289D|MGAT1_uc010jlg.2_Silent_p.D289D|MGAT1_uc003mmh.3_Silent_p.D289D|MGAT1_uc010jlh.2_Silent_p.D289D|MGAT1_uc003mmi.3_Silent_p.D289D	NM_002406	NP_002397	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein	289	Lumenal (Potential).	Proton acceptor (Potential).			post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(1)	1	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCATCCAGTCGTCCCAGAAGG	0.662												
DUSP22	56940	broad.mit.edu	37	6	348224	348224	+	Missense_Mutation	SNP	G	G	A	rs140673019		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:348224G>A	uc003msx.2	+	6	824	c.385G>A	c.(385-387)GTG>ATG	p.V129M	DUSP22_uc011dhn.1_Missense_Mutation_p.V129M|DUSP22_uc003msy.1_Missense_Mutation_p.V86M	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	129	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CAACCCCAACGTGGGCTTCCA	0.572												
IRF4	3662	broad.mit.edu	37	6	397130	397130	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:397130C>A	uc003msz.3	+	5	628	c.515C>A	c.(514-516)CCA>CAA	p.P172Q	IRF4_uc010jne.1_Missense_Mutation_p.P172Q|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.P171Q|IRF4_uc003mtc.1_Missense_Mutation_p.P2Q	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	172					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		TACATGATGCCACCCCTCGAC	0.582			T	IGH@	MM 							
NQO2	4835	broad.mit.edu	37	6	3012850	3012850	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:3012850C>T	uc003mus.2	+	4	583	c.245C>T	c.(244-246)GCT>GTT	p.A82V	NQO2_uc003mup.1_Missense_Mutation_p.A82V|NQO2_uc003mut.2_Missense_Mutation_p.A82V	NM_000904	NP_000895	P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	82						cytoplasm|nucleus	coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding|NADPH dehydrogenase (quinone) activity			ovary(1)	1	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Menadione(DB00170)|NADH(DB00157)	AGGTCTCTGGCTAGCGACATC	0.418												
TUBB2A	7280	broad.mit.edu	37	6	3154797	3154797	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:3154797C>T	uc003mvc.2	-	4	724	c.638G>A	c.(637-639)CGC>CAC	p.R213H	TUBB2A_uc003mvb.2_Missense_Mutation_p.R206H|TUBB2A_uc003mvd.2_Missense_Mutation_p.R176H	NM_001069	NP_001060	Q13885	TBB2A_HUMAN	tubulin, beta 2	213					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			skin(1)	1	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CTTCAGGGTGCGGAAGCAGAT	0.612												
RREB1	6239	broad.mit.edu	37	6	7182150	7182150	+	Silent	SNP	G	G	A	rs149124719		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:7182150G>A	uc003mxc.2	+	4	396	c.6G>A	c.(4-6)ACG>ACA	p.T2T	RREB1_uc010jnw.2_Silent_p.T2T|RREB1_uc003mxb.2_Silent_p.T2T|RREB1_uc010jnx.2_Silent_p.T2T|RREB1_uc003mxd.2_Silent_p.T2T	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	2					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TCCCAATGACGTCAAGTTCGC	0.478												
TXNDC5	81567	broad.mit.edu	37	6	7889011	7889011	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:7889011G>A	uc003mxv.2	-	7	922	c.890C>T	c.(889-891)ACA>ATA	p.T297I	TXNDC5_uc003mxw.2_Missense_Mutation_p.T254I|TXNDC5_uc010jnz.2_Missense_Mutation_p.T189I|TXNDC5_uc010joa.1_Missense_Mutation_p.T189I	NM_030810	NP_110437	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 isoform 1	297					anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity				0	Ovarian(93;0.0398)					TCCAGTCTCTGTGCGCTGCAG	0.652												
HIST1H2AA	221613	broad.mit.edu	37	6	25726410	25726410	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:25726410G>A	uc003nfc.2	-	1	381	c.346C>T	c.(346-348)CTG>TTG	p.L116L	HIST1H2BA_uc003nfd.2_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	116					nucleosome assembly	nucleosome|nucleus	DNA binding				0						TTGGGCAGCAGCACTGCCTGA	0.493												
BTN2A1	11120	broad.mit.edu	37	6	26459819	26459819	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:26459819C>T	uc003nib.1	+	3	405	c.193C>T	c.(193-195)CGG>TGG	p.R65W	BTN2A1_uc003nic.1_Missense_Mutation_p.R65W|BTN2A1_uc003nid.1_5'UTR|BTN2A1_uc011dko.1_Missense_Mutation_p.R4W	NM_007049	NP_008980	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1 isoform 1	65	Extracellular (Potential).|Ig-like V-type.				lipid metabolic process	integral to plasma membrane				ovary(1)|skin(1)	2						CATGGAGGTGCGGTGGTTCCG	0.547												
HIST1H4I	8294	broad.mit.edu	37	6	27107305	27107305	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:27107305A>G	uc003niy.1	+	1	218	c.218A>G	c.(217-219)TAC>TGC	p.Y73C	HIST1H2BK_uc003nix.1_Intron	NM_003495	NP_003486	P62805	H4_HUMAN	histone cluster 1, H4i	73					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(1)	1						GCCGTGACCTACACGGAGCAC	0.642			T	BCL6	NHL							
ZNF165	7718	broad.mit.edu	37	6	28056594	28056594	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:28056594A>G	uc003nkg.2	+	5	1888	c.804A>G	c.(802-804)GAA>GAG	p.E268E	ZNF165_uc003nkh.2_Silent_p.E268E|ZNF165_uc003nki.3_Silent_p.E268E|ZSCAN12P1_uc003nkj.3_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	zinc finger protein 165	268					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TCAGAGGTGAAATAATAAGCC	0.423												
ZNF165	7718	broad.mit.edu	37	6	28057166	28057166	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:28057166G>T	uc003nkg.2	+	5	2460	c.1376G>T	c.(1375-1377)AGT>ATT	p.S459I	ZNF165_uc003nkh.2_Missense_Mutation_p.S459I|ZNF165_uc003nki.3_Missense_Mutation_p.S459I|ZSCAN12P1_uc003nkj.3_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	zinc finger protein 165	459	C2H2-type 6.				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TATGAATGCAGTGAGTGTGGA	0.408												
RNF39	80352	broad.mit.edu	37	6	30043318	30043318	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:30043318C>T	uc003npe.2	-	1	311	c.249G>A	c.(247-249)GAG>GAA	p.E83E	RNF39_uc003npd.2_Silent_p.E83E	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN	ring finger protein 39 isoform 1	83						cytoplasm	zinc ion binding				0						TCGCCAGCTGCTCCAGACGCT	0.716												
DPCR1	135656	broad.mit.edu	37	6	30919763	30919763	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:30919763G>A	uc003nsg.2	+	2	3522	c.3522G>A	c.(3520-3522)ACG>ACA	p.T1174T		NM_080870	NP_543146	Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	305	Extracellular (Potential).|Thr-rich.					integral to membrane					0						AAAAGACCACGTCAACCACAG	0.468												
POU5F1	5460	broad.mit.edu	37	6	31132537	31132537	+	Silent	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:31132537T>C	uc003nsv.2	-	5	978	c.924A>G	c.(922-924)GGA>GGG	p.G308G	POU5F1_uc003nsu.2_Silent_p.G213G|uc011dnf.1_5'Flank	NM_002701	NP_002692	Q01860	PO5F1_HUMAN	POU domain, class 5, transcription factor 1	308					anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding		EWSR1/POU5F1(10)	skin(7)|salivary_gland(2)|bone(2)|lung(1)|ovary(1)	13						AGGACACTGGTCCCCCTGAGA	0.587			T	EWSR1	sarcoma							
LTA	4049	broad.mit.edu	37	6	31541350	31541350	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:31541350G>A	uc011dnu.1	+	4	711	c.498G>A	c.(496-498)TCG>TCA	p.S166S	LTA_uc003nue.1_Silent_p.S166S|LTA_uc003nuf.2_Intron|LTA_uc003nuh.2_Intron|LTA_uc003nug.2_Missense_Mutation_p.D76N|LTA_uc010jsr.2_RNA|TNF_uc003nui.2_5'Flank|TNF_uc003nuj.2_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	lymphotoxin alpha precursor	166					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding				0					Etanercept(DB00005)	GGCTGCACTCGATGTACCACG	0.592												
APOM	55937	broad.mit.edu	37	6	31624328	31624328	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:31624328C>A	uc003nvl.2	+	2	267	c.194C>A	c.(193-195)CCT>CAT	p.P65H	APOM_uc003nvk.2_Translation_Start_Site	NM_019101	NP_061974	O95445	APOM_HUMAN	apolipoprotein M	65					cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity				0						ACTTTTGACCCTGTGGACAAC	0.552												
C6orf47	57827	broad.mit.edu	37	6	31627258	31627258	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:31627258C>T	uc003nvm.1	-	1	1292	c.467G>A	c.(466-468)GGC>GAC	p.G156D		NM_021184	NP_067007	O95873	CF047_HUMAN	G4 protein	156										ovary(1)	1						CCGCAGCCAGCCCAACAGCTT	0.647												
DDAH2	23564	broad.mit.edu	37	6	31696024	31696024	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:31696024G>A	uc003nwp.2	-	4	1148	c.517C>T	c.(517-519)CGC>TGC	p.R173C	DDAH2_uc003nwq.2_Missense_Mutation_p.R173C	NM_013974	NP_039268	O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	173					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding				0					L-Citrulline(DB00155)	CAGAGACCGCGCAGGTGGGAG	0.667												
HSPA1L	3305	broad.mit.edu	37	6	31779156	31779156	+	Silent	SNP	C	C	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:31779156C>G	uc003nxh.2	-	2	777	c.594G>C	c.(592-594)CTG>CTC	p.L198L	HSPA1L_uc010jte.2_Silent_p.L198L	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	198					response to unfolded protein		ATP binding			ovary(3)|pleura(1)|kidney(1)|skin(1)	6						GATCAAAAATCAGGACATGTC	0.468												
EHMT2	10919	broad.mit.edu	37	6	31856457	31856457	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:31856457G>A	uc003nxz.1	-	11	1294	c.1284C>T	c.(1282-1284)TGC>TGT	p.C428C	EHMT2_uc003nxy.1_Silent_p.C219C|EHMT2_uc011don.1_Silent_p.C451C|EHMT2_uc003nya.1_Silent_p.C394C	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	428					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						CCTCCATGCGGCAGCTGCACA	0.622												
SKIV2L	6499	broad.mit.edu	37	6	31936718	31936718	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:31936718T>C	uc003nyn.1	+	26	3640	c.3251T>C	c.(3250-3252)ATG>ACG	p.M1084T	SKIV2L_uc011dou.1_Missense_Mutation_p.M926T|SKIV2L_uc011dov.1_Missense_Mutation_p.M891T|STK19_uc003nyt.2_5'Flank|STK19_uc011dow.1_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.2_5'Flank|STK19_uc003nyw.2_5'Flank	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	1084						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						GCTTGTGCCATGAGCAGCCAT	0.592												
C4A	720	broad.mit.edu	37	6	31997538	31997538	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:31997538G>A	uc011dpd.1	+	29	3923	c.3872G>A	c.(3871-3873)CGT>CAT	p.R1291H	C4A_uc011dpe.1_Missense_Mutation_p.R1291H	NM_007293	NP_009224	P0C0L4	CO4A_HUMAN	complement component 4A preproprotein	1291					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity				0						TGGCTCACCCGTCAGGGCAGC	0.647												
TNXB	7148	broad.mit.edu	37	6	32023661	32023661	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:32023661G>A	uc003nzl.2	-	24	8636	c.8434C>T	c.(8434-8436)CGT>TGT	p.R2812C		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2870	Fibronectin type-III 20.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GGGCCCACACGCCGCCCCTCG	0.607												
RING1	6015	broad.mit.edu	37	6	33178996	33178996	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:33178996G>A	uc003odk.2	+	5	711	c.517G>A	c.(517-519)GAA>AAA	p.E173K	RING1_uc011dqx.1_Missense_Mutation_p.E173K|RING1_uc003odl.2_Missense_Mutation_p.E144K	NM_002931	NP_002922	Q06587	RING1_HUMAN	ring finger protein 1	173	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						GAGTGGGGGGGAAGGAGAGCC	0.627												
SYNGAP1	8831	broad.mit.edu	37	6	33411215	33411215	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:33411215C>T	uc011dri.1	+	15	3081	c.2886C>T	c.(2884-2886)CAC>CAT	p.H962H	SYNGAP1_uc010juy.2_Silent_p.H933H|SYNGAP1_uc010juz.2_Silent_p.H674H	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	962					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						accaccaccaccatcaccacc	0.557												
SYNGAP1	8831	broad.mit.edu	37	6	33411218	33411218	+	Silent	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:33411218T>C	uc011dri.1	+	15	3084	c.2889T>C	c.(2887-2889)CAT>CAC	p.H963H	SYNGAP1_uc010juy.2_Silent_p.H934H|SYNGAP1_uc010juz.2_Silent_p.H675H	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	963					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						accaccaccatcaccaccacc	0.557												
UHRF1BP1	54887	broad.mit.edu	37	6	34825969	34825969	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:34825969G>A	uc003oju.3	+	14	2070	c.1836G>A	c.(1834-1836)GCG>GCA	p.A612A	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	612										ovary(3)	3						TCTTCTCTGCGTCAGGCATGA	0.488												
CLPS	1208	broad.mit.edu	37	6	35763018	35763018	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:35763018G>A	uc003ole.1	-	3	281	c.244C>T	c.(244-246)CGT>TGT	p.R82C	CLPS_uc003olf.1_Missense_Mutation_p.R41C	NM_001832	NP_001823	P04118	COL_HUMAN	colipase preproprotein	82					lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process	extracellular region					0						GTCAGGCCACGCTCACAGGGA	0.542												
PPIL1	51645	broad.mit.edu	37	6	36823635	36823635	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:36823635C>T	uc003omu.2	-	4	707	c.455G>A	c.(454-456)CGC>CAC	p.R152H		NM_016059	NP_057143	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase-like 1	152	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1						GTCCACAGGGCGGTCCTGGGA	0.532												
DNAH8	1769	broad.mit.edu	37	6	38941437	38941437	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:38941437G>T	uc003ooe.1	+	82	12475	c.11875G>T	c.(11875-11877)GGT>TGT	p.G3959C	DNAH8_uc003oog.1_Missense_Mutation_p.G408C	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						TTGGATACAGGGTGGTTGGGT	0.338												
DAAM2	23500	broad.mit.edu	37	6	39828752	39828752	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:39828752C>T	uc003oow.2	+	3	373	c.217C>T	c.(217-219)CCC>TCC	p.P73S	DAAM2_uc010jxc.2_Missense_Mutation_p.P73S|DAAM2_uc003oox.2_Missense_Mutation_p.P73S|DAAM2_uc003oov.3_Missense_Mutation_p.P73S|DAAM2_uc003ooy.3_Missense_Mutation_p.P73S	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	73	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					GTTTGCACTGCCCCCTGAGAA	0.488												
DAAM2	23500	broad.mit.edu	37	6	39843178	39843178	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:39843178A>G	uc003oow.2	+	11	1391	c.1235A>G	c.(1234-1236)GAT>GGT	p.D412G	DAAM2_uc010jxc.2_Missense_Mutation_p.D412G|DAAM2_uc003oox.2_Missense_Mutation_p.D412G	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	412	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					GTCCTCCAGGATGAGCGGGGT	0.552												
DAAM2	23500	broad.mit.edu	37	6	39856508	39856508	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:39856508A>T	uc003oow.2	+	17	2270	c.2114A>T	c.(2113-2115)CAG>CTG	p.Q705L	DAAM2_uc003oox.2_Missense_Mutation_p.Q705L|uc003ooz.1_5'Flank	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	705	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					ATGGATGAGCAGGAGGACCTT	0.577												
TREML2	79865	broad.mit.edu	37	6	41162312	41162312	+	Silent	SNP	G	G	A	rs141822677	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:41162312G>A	uc010jxm.1	-	3	815	c.636C>T	c.(634-636)ACC>ACT	p.T212T		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid	212	Extracellular (Potential).				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGGAGACGCGGTCACTGTCT	0.627												
FOXP4	116113	broad.mit.edu	37	6	41557560	41557560	+	Missense_Mutation	SNP	C	C	T	rs140387832		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:41557560C>T	uc003oql.2	+	10	1575	c.1117C>T	c.(1117-1119)CGG>TGG	p.R373W	FOXP4_uc003oqm.2_Missense_Mutation_p.R371W|FOXP4_uc003oqn.2_Missense_Mutation_p.R372W	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	forkhead box P4 isoform 1	373					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)					CCTGCACATGCGGCCCTCGGA	0.692											OREG0004066	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
BYSL	705	broad.mit.edu	37	6	41897948	41897948	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:41897948G>A	uc003orl.2	+	3	846	c.510G>A	c.(508-510)TCG>TCA	p.S170S		NM_004053	NP_004044	Q13895	BYST_HUMAN	bystin	170					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus					0	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAGAGGTGTCGGGCTTCCCTA	0.592												
KLHDC3	116138	broad.mit.edu	37	6	42986253	42986253	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:42986253C>A	uc003otl.2	+	6	861	c.692C>A	c.(691-693)CCG>CAG	p.P231Q	KLHDC3_uc003otm.2_RNA|KLHDC3_uc010jyf.2_Missense_Mutation_p.P207Q|KLHDC3_uc003otn.2_Missense_Mutation_p.P115Q|KLHDC3_uc003oto.2_Missense_Mutation_p.P172Q	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	231	Kelch 4.				reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			upper_aerodigestive_tract(1)	1			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GACTGTCCCCCGACTCCAGTG	0.577												
PTK7	5754	broad.mit.edu	37	6	43110015	43110015	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:43110015G>A	uc003oub.1	+	13	2223	c.2025G>A	c.(2023-2025)ACG>ACA	p.T675T	PTK7_uc003ouc.1_Intron|PTK7_uc003oud.1_Silent_p.T635T|PTK7_uc003oue.1_Silent_p.T545T|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Silent_p.T683T|PTK7_uc010jyj.1_Intron	NM_002821	NP_002812	Q13308	PTK7_HUMAN	PTK7 protein tyrosine kinase 7 isoform a	675	Ig-like C2-type 7.|Extracellular (Potential).				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			ovary(2)|large_intestine(1)	3			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TCAAGCACACGGAGGCCCCCC	0.587												
CUL9	23113	broad.mit.edu	37	6	43152098	43152098	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:43152098G>A	uc003ouk.2	+	2	125	c.50G>A	c.(49-51)CGG>CAG	p.R17Q	CUL9_uc003ouj.1_Missense_Mutation_p.R17Q|CUL9_uc003oul.2_Missense_Mutation_p.R17Q|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	17					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						TTAGGGCCTCGGCTGCAGGCA	0.552												
TDRD6	221400	broad.mit.edu	37	6	46657163	46657163	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:46657163G>A	uc003oyj.2	+	1	1298	c.1298G>A	c.(1297-1299)CGT>CAT	p.R433H	TDRD6_uc010jze.2_Missense_Mutation_p.R427H	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	433					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			AATCTGAACCGTGTGTTTGGA	0.463												
TDRD6	221400	broad.mit.edu	37	6	46657579	46657579	+	Nonsense_Mutation	SNP	C	C	T	rs141346043		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:46657579C>T	uc003oyj.2	+	1	1714	c.1714C>T	c.(1714-1716)CGA>TGA	p.R572*	TDRD6_uc010jze.2_Nonsense_Mutation_p.R566*	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	572	Tudor 3.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			CTTAGTTGACCGAGGCAATTC	0.443												
PKHD1	5314	broad.mit.edu	37	6	51890007	51890007	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:51890007C>T	uc003pah.1	-	32	4877	c.4601G>A	c.(4600-4602)AGC>AAC	p.S1534N	PKHD1_uc003pai.2_Missense_Mutation_p.S1534N	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1534	Extracellular (Potential).|IPT/TIG 10.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					CACAACGTGGCTTGCATTAAA	0.453												
GCM1	8521	broad.mit.edu	37	6	52993662	52993662	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:52993662T>C	uc003pbp.2	-	6	862	c.653A>G	c.(652-654)TAC>TGC	p.Y218C		NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	glial cells missing homolog a	218						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)	1	Lung NSC(77;0.0755)					ATGTCCACTGTAACTACCAGG	0.433												
TINAG	27283	broad.mit.edu	37	6	54208091	54208091	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:54208091C>T	uc003pcj.2	+	5	838	c.692C>T	c.(691-693)ACT>ATT	p.T231I	TINAG_uc010jzt.2_Intron	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	231					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CCTGGATGGACTCATGGCCCA	0.373												
BMP5	653	broad.mit.edu	37	6	55620357	55620357	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:55620357C>T	uc003pcq.2	-	7	2051	c.1339G>A	c.(1339-1341)GTA>ATA	p.V447I	BMP5_uc011dxf.1_Missense_Mutation_p.V410I	NM_021073	NP_066551	P22003	BMP5_HUMAN	bone morphogenetic protein 5 preproprotein	447					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(2)	2	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAGCGTACTACCATATTTCTA	0.333												
COL21A1	81578	broad.mit.edu	37	6	55939064	55939064	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:55939064C>T	uc003pcs.2	-	20	2163	c.1931G>A	c.(1930-1932)GGC>GAC	p.G644D	COL21A1_uc010jzz.2_Missense_Mutation_p.G29D|COL21A1_uc011dxg.1_Missense_Mutation_p.G29D|COL21A1_uc011dxh.1_Missense_Mutation_p.G29D|COL21A1_uc003pcr.2_Missense_Mutation_p.A2T	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1 precursor	644	Collagen-like 3.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(2)	2	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCCTGGTGAGCCATTGCTTCC	0.328												
COL12A1	1303	broad.mit.edu	37	6	75898209	75898209	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:75898209G>T	uc003phs.2	-	8	1032	c.866C>A	c.(865-867)TCC>TAC	p.S289Y	COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_5'UTR	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	289	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						TGAAGGTGTGGAGGCAATTTG	0.408												
COX7A2	1347	broad.mit.edu	37	6	75950905	75950905	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:75950905T>C	uc003phv.1	-	2	170	c.95A>G	c.(94-96)CAA>CGA	p.Q32R		NM_001865	NP_001856	P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2	32						mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity				0						GAACAGTTTTTGCTTCTCCGG	0.338												
HTR1B	3351	broad.mit.edu	37	6	78172363	78172363	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:78172363C>T	uc003pil.1	-	1	758	c.758G>A	c.(757-759)CGA>CAA	p.R253Q		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	253	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity				0		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	CAGCTGGGCTCGGGTCAAGCG	0.617												
DOPEY1	23033	broad.mit.edu	37	6	83839167	83839167	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:83839167C>T	uc003pjs.1	+	16	2541	c.2281C>T	c.(2281-2283)CCA>TCA	p.P761S	DOPEY1_uc011dyy.1_Missense_Mutation_p.P752S|DOPEY1_uc010kbl.1_Missense_Mutation_p.P752S	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	761					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CTCAAGTTTCCCAGTTTACAT	0.383												
PM20D2	135293	broad.mit.edu	37	6	89871861	89871861	+	Missense_Mutation	SNP	C	C	T	rs147495131	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:89871861C>T	uc003pmz.2	+	7	1285	c.1190C>T	c.(1189-1191)ACG>ATG	p.T397M		NM_001010853	NP_001010853	Q8IYS1	P20D2_HUMAN	aminoacylase 1-like 2	397							hydrolase activity				0		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		ACTCTGCGGACGGCCAAAGCT	0.398												
ASCC3	10973	broad.mit.edu	37	6	101053555	101053555	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:101053555C>T	uc003pqk.2	-	33	5395	c.5066G>A	c.(5065-5067)CGT>CAT	p.R1689H		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1689	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CCTCCCAGCACGCCCCATCAT	0.383												
BEND3	57673	broad.mit.edu	37	6	107392009	107392009	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:107392009T>C	uc003prs.2	-	5	1036	c.386A>G	c.(385-387)AAG>AGG	p.K129R		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	129										ovary(3)	3						ATACAGAGGCTTCTTGTAGGA	0.587												
WASF1	8936	broad.mit.edu	37	6	110423044	110423044	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:110423044C>T	uc003ptv.1	-	10	2106	c.1269G>A	c.(1267-1269)CTG>CTA	p.L423L	WASF1_uc003ptw.1_Silent_p.L423L|WASF1_uc003ptx.1_Silent_p.L423L|WASF1_uc003pty.1_Silent_p.L423L	NM_003931	NP_003922	Q92558	WASF1_HUMAN	Wiskott-Aldrich syndrome protein family member	423					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding				0		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GGGGTGGAGGCAGCCCCTGAA	0.577												
ZUFSP	221302	broad.mit.edu	37	6	116966982	116966982	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:116966982T>C	uc003pxf.1	-	9	1830	c.1584A>G	c.(1582-1584)ATA>ATG	p.I528M	ZUFSP_uc010kef.1_Missense_Mutation_p.I332M	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	528						intracellular	zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		TGCTAGCCTCTATGTCTTGCT	0.368												
ZUFSP	221302	broad.mit.edu	37	6	116987852	116987852	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:116987852A>G	uc003pxf.1	-	2	750	c.504T>C	c.(502-504)GAT>GAC	p.D168D	ZUFSP_uc010kef.1_Intron	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	168	C2H2-type 2.					intracellular	zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		GAGTTTCCATATCTTCACTGT	0.353												
FAM184A	79632	broad.mit.edu	37	6	119297156	119297156	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:119297156G>A	uc003pyj.2	-	12	2857	c.2509C>T	c.(2509-2511)CGG>TGG	p.R837W	FAM184A_uc003pyk.3_Missense_Mutation_p.R717W|FAM184A_uc003pyl.3_Missense_Mutation_p.R717W|FAM184A_uc003pyi.2_RNA	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	837										ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						TGATTATGCCGTAACAAATCA	0.378												
LAMA2	3908	broad.mit.edu	37	6	129663524	129663524	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:129663524C>T	uc003qbn.2	+	30	4453	c.4348C>T	c.(4348-4350)CGA>TGA	p.R1450*	LAMA2_uc003qbo.2_Nonsense_Mutation_p.R1450*	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1450	Laminin EGF-like 15.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTTCTGTGAACGATGTGCTCT	0.378												
TAAR6	319100	broad.mit.edu	37	6	132891518	132891518	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:132891518G>T	uc011eck.1	+	1	58	c.58G>T	c.(58-60)GGG>TGG	p.G20W		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	20	Extracellular (Potential).					plasma membrane	G-protein coupled receptor activity			ovary(2)|skin(1)	3	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		GAACGTGAATGGGTCCTGTGT	0.502												
HEBP2	23593	broad.mit.edu	37	6	138727269	138727269	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:138727269G>T	uc003qhw.1	+	3	697	c.400G>T	c.(400-402)GAA>TAA	p.E134*		NM_014320	NP_055135	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	134						mitochondrion					0	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		AGATAGAGCCGAAATGACTGT	0.413												
FUCA2	2519	broad.mit.edu	37	6	143825243	143825243	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:143825243A>G	uc003qjm.2	-	3	651	c.559T>C	c.(559-561)TTT>CTT	p.F187L	FUCA2_uc003qjn.2_5'Flank	NM_032020	NP_114409	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma precursor	187					fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		AGCGGATGAAACCATTCAAAA	0.443												
GRM1	2911	broad.mit.edu	37	6	146720745	146720745	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:146720745G>A	uc010khw.1	+	8	3040	c.2570G>A	c.(2569-2571)CGC>CAC	p.R857H	GRM1_uc010khv.1_Missense_Mutation_p.R857H|GRM1_uc003qll.2_Missense_Mutation_p.R857H|GRM1_uc011edz.1_Missense_Mutation_p.R857H|GRM1_uc011eea.1_Missense_Mutation_p.R857H	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	857	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GATGTTGTCCGCATGCATGTT	0.532												
SYNE1	23345	broad.mit.edu	37	6	152777037	152777037	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:152777037A>G	uc010kiw.2	-	23	3313	c.2711T>C	c.(2710-2712)ATT>ACT	p.I904T	SYNE1_uc003qot.3_Missense_Mutation_p.I911T|SYNE1_uc003qou.3_Missense_Mutation_p.I904T|SYNE1_uc010kjb.1_Missense_Mutation_p.I887T|SYNE1_uc003qow.2_Missense_Mutation_p.I199T|SYNE1_uc003qox.1_Missense_Mutation_p.I420T|SYNE1_uc003qoz.2_Missense_Mutation_p.I336T|SYNE1_uc003qoy.2_Missense_Mutation_p.I471T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	904	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCAACATGAATATCTGCAAT	0.423										HNSCC(10;0.0054)		
TIAM2	26230	broad.mit.edu	37	6	155450812	155450812	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:155450812C>T	uc003qqb.2	+	6	1728	c.455C>T	c.(454-456)CCG>CTG	p.P152L	TIAM2_uc003qqe.2_Missense_Mutation_p.P152L	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	152					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TCCACCCCACCGGGCGAAGAC	0.577												
ARID1B	57492	broad.mit.edu	37	6	157522469	157522469	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:157522469C>T	uc003qqn.2	+	18	4839	c.4687C>T	c.(4687-4689)CAG>TAG	p.Q1563*	ARID1B_uc003qqo.2_Nonsense_Mutation_p.Q1523*|ARID1B_uc003qqp.2_Nonsense_Mutation_p.Q1510*	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1568	Pro-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)		TATGAAGATGCAGAAGGTCAT	0.592												
SYNJ2	8871	broad.mit.edu	37	6	158483059	158483059	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:158483059G>A	uc003qqx.1	+	8	1065	c.990G>A	c.(988-990)ACG>ACA	p.T330T	SYNJ2_uc011efm.1_Intron|SYNJ2_uc003qqw.1_Silent_p.T330T|SYNJ2_uc003qqy.1_Silent_p.T43T|SYNJ2_uc011efn.1_Intron|SYNJ2_uc010kjo.1_Silent_p.T279T|SYNJ2_uc003qqz.1_5'UTR	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	330	SAC.						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)		CGGGCGACACGCCTATGATCA	0.383												
SLC22A2	6582	broad.mit.edu	37	6	160679392	160679392	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:160679392G>A	uc003qtf.2	-	1	568	c.398C>T	c.(397-399)TCG>TTG	p.S133L	SLC22A2_uc003qte.1_Missense_Mutation_p.S133L|SLC22A2_uc003qth.1_Missense_Mutation_p.S133L	NM_003058	NP_003049	O15244	S22A2_HUMAN	solute carrier family 22 member 2	133	Extracellular (Potential).				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(1)|skin(1)	2		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GACGATGGACGAGCCAGGCGT	0.627												
AGPAT4	56895	broad.mit.edu	37	6	161574397	161574397	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:161574397C>T	uc003qtr.1	-	5	872	c.645G>A	c.(643-645)GTG>GTA	p.V215V	AGPAT4_uc003qts.1_Silent_p.V75V|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_RNA|AGPAT4_uc011egc.1_3'UTR|AGPAT4_uc011egd.1_3'UTR|AGPAT4_uc011ege.1_3'UTR	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	215					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)		TCAAGCTCCTCACGGTGATGG	0.612											OREG0017775	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GPR146	115330	broad.mit.edu	37	7	1098028	1098028	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:1098028C>T	uc003sjw.2	+	2	953	c.877C>T	c.(877-879)CCA>TCA	p.P293S	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPR146_uc003sjx.3_Missense_Mutation_p.P293S|GPR146_uc003sjy.1_Missense_Mutation_p.P293S	NM_138445	NP_612454	Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	293	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CTTTGTGACACCACTTCTCTA	0.582												
EIF3B	8662	broad.mit.edu	37	7	2414230	2414230	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:2414230G>A	uc003slx.2	+	13	1961	c.1878G>A	c.(1876-1878)GCG>GCA	p.A626A	EIF3B_uc003sly.2_Silent_p.A626A|EIF3B_uc003sma.2_Silent_p.A354A|EIF3B_uc003smb.2_5'Flank	NM_003751	NP_003742	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3,	626					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity				0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		TGGTGTTGGCGGGCCTGAGGA	0.627												
CHST12	55501	broad.mit.edu	37	7	2473129	2473129	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:2473129C>T	uc003smc.2	+	2	990	c.855C>T	c.(853-855)CCC>CCT	p.P285P	CHST12_uc003smd.2_Silent_p.P285P	NM_018641	NP_061111	Q9NRB3	CHSTC_HUMAN	carbohydrate sulfotransferase 12	285	Lumenal (Potential).				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			kidney(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CCAGCCTGCCCGCCTCGGCGC	0.652												
CARD11	84433	broad.mit.edu	37	7	2962768	2962768	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:2962768G>A	uc003smv.2	-	16	2544	c.2140C>T	c.(2140-2142)CTG>TTG	p.L714L		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	714	PDZ.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCCCTCACCAGCAGCAGCTGG	0.647			Mis		DLBCL							
RADIL	55698	broad.mit.edu	37	7	4917262	4917262	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:4917262G>A	uc003snj.1	-	2	682	c.509C>T	c.(508-510)GCC>GTC	p.A170V	RADIL_uc003sng.1_RNA|RADIL_uc011jwd.1_RNA	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	170					cell adhesion|multicellular organismal development|signal transduction		protein binding			lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CACCTCCTTGGCTGCCAGCTC	0.602												
SLC29A4	222962	broad.mit.edu	37	7	5338627	5338627	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:5338627A>G	uc003sod.2	+	8	1052	c.891A>G	c.(889-891)CCA>CCG	p.P297P	SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Silent_p.P297P|SLC29A4_uc003soe.2_Silent_p.P283P|SLC29A4_uc010ksw.2_RNA	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (nucleoside	297	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			liver(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		AGGAGCACCCAGCCCCGGCCC	0.672												
CYTH3	9265	broad.mit.edu	37	7	6205435	6205435	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:6205435C>T	uc003spt.2	-	10	934	c.830G>A	c.(829-831)CGT>CAT	p.R277H	CYTH3_uc011jws.1_Missense_Mutation_p.R192H	NM_004227	NP_004218	O43739	CYH3_HUMAN	cytohesin 3	278	PH.				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				0						GGTCTTCACACGCCCTCCTAG	0.602												
AHR	196	broad.mit.edu	37	7	17379837	17379837	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:17379837G>T	uc011jxz.1	+	10	3001	c.2388G>T	c.(2386-2388)CAG>CAT	p.Q796H	AHR_uc003stt.3_RNA	NM_001621	NP_001612	P35869	AHR_HUMAN	aryl hydrocarbon receptor precursor	796					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			urinary_tract(1)|kidney(1)|pancreas(1)	3	Lung NSC(10;0.0392)|all_lung(11;0.0754)					CAGGCCAACAGGCATTTTTAA	0.428												
FERD3L	222894	broad.mit.edu	37	7	19184632	19184632	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:19184632G>A	uc003suo.1	-	1	413	c.354C>T	c.(352-354)AAC>AAT	p.N118N	uc003sun.1_RNA	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	nephew of atonal 3	118	Helix-loop-helix motif.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			large_intestine(1)	1						CAAAGGCCTCGTTGAGGTTGA	0.587												
TWISTNB	221830	broad.mit.edu	37	7	19738156	19738156	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:19738156G>A	uc003sup.1	-	4	821	c.800C>T	c.(799-801)GCG>GTG	p.A267V		NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN	TWIST neighbor	267	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			ovary(1)	1						GATGCCATTCGCATTATTAGT	0.478												
IGF2BP3	10643	broad.mit.edu	37	7	23401218	23401218	+	Splice_Site	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:23401218T>C	uc003swg.2	-	5	604	c.338_splice	c.e5-1	p.V113_splice		NM_006547	NP_006538	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding						anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			ovary(2)	2						CAGTGTTCACTAGAGGAAGAG	0.348												
NOD1	10392	broad.mit.edu	37	7	30491514	30491514	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:30491514C>T	uc003tav.2	-	6	2042	c.1519G>A	c.(1519-1521)GGG>AGG	p.G507R		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	507	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)|skin(1)	2						TGGTCACCCCCGGGGCCCAGC	0.627												
ANLN	54443	broad.mit.edu	37	7	36489380	36489380	+	Missense_Mutation	SNP	G	G	A	rs140729544		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:36489380G>A	uc003tff.2	+	23	3389	c.3185G>A	c.(3184-3186)CGA>CAA	p.R1062Q	ANLN_uc011kaz.1_Missense_Mutation_p.R974Q|ANLN_uc003tfg.2_Missense_Mutation_p.R1025Q|ANLN_uc010kxe.2_Missense_Mutation_p.R1024Q	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	1062	PH.|Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3						ATTACTGTCCGACCACAAAGA	0.403												
AOAH	313	broad.mit.edu	37	7	36677512	36677512	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:36677512G>A	uc003tfh.3	-	5	796	c.395C>T	c.(394-396)ACA>ATA	p.T132I	AOAH_uc010kxf.2_Missense_Mutation_p.T132I|AOAH_uc011kba.1_Missense_Mutation_p.T100I	NM_001637	NP_001628	P28039	AOAH_HUMAN	acyloxyacyl hydrolase precursor	132					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			skin(1)	1						AAATTTCCATGTCTCCTATAA	0.358												
MRPS24	64951	broad.mit.edu	37	7	43906548	43906548	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:43906548C>T	uc003tit.1	-	4	305	c.254G>A	c.(253-255)CGA>CAA	p.R85Q		NM_032014	NP_114403	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24 precursor	85					translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome				0						CTCCACCGTTCGCTCTGCGGC	0.562												
AEBP1	165	broad.mit.edu	37	7	44152488	44152488	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:44152488A>G	uc003tkb.2	+	18	2854	c.2549A>G	c.(2548-2550)AAG>AGG	p.K850R	AEBP1_uc003tkc.3_Missense_Mutation_p.K425R|AEBP1_uc003tkd.2_Missense_Mutation_p.K100R	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	850	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AACGGGGCCAAGTGGAACCCC	0.682												
ZPBP	11055	broad.mit.edu	37	7	50022992	50022992	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:50022992A>C	uc003tou.2	-	7	977	c.907T>G	c.(907-909)TTT>GTT	p.F303V	ZPBP_uc011kci.1_Missense_Mutation_p.F229V|ZPBP_uc010kyw.2_Missense_Mutation_p.F302V	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein isoform 1	303					binding of sperm to zona pellucida	extracellular region					0	Glioma(55;0.08)|all_neural(89;0.245)					TATCCTGGAAAGCAGCGATTA	0.333												
FIGNL1	63979	broad.mit.edu	37	7	50514362	50514362	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:50514362A>G	uc003tpc.2	-	4	1001	c.624T>C	c.(622-624)GGT>GGC	p.G208G	FIGNL1_uc003tpb.2_Silent_p.G97G|FIGNL1_uc003tpd.2_Silent_p.G208G|FIGNL1_uc003tpe.2_Silent_p.G208G|FIGNL1_uc010kyy.2_Silent_p.G208G	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	208					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			ovary(3)	3	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TAGCTGACTCACCTACAGGTG	0.433												
POM121L12	285877	broad.mit.edu	37	7	53104115	53104115	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:53104115G>A	uc003tpz.2	+	1	767	c.751G>A	c.(751-753)GCT>ACT	p.A251T		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	251											0						TTGTGATGATGCTTGGCCTTC	0.637												
POM121	9883	broad.mit.edu	37	7	72412589	72412589	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:72412589C>T	uc003twk.2	+	11	2057	c.2057C>T	c.(2056-2058)ACG>ATG	p.T686M	POM121_uc003twj.2_Missense_Mutation_p.T421M|POM121_uc010lam.1_Missense_Mutation_p.T421M	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	nuclear pore membrane protein 121	686	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore					0		Lung NSC(55;0.163)				CAGGCAGAGACGGCTACCAAA	0.607												
BAZ1B	9031	broad.mit.edu	37	7	72857062	72857062	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:72857062G>A	uc003tyc.2	-	18	4432	c.4087C>T	c.(4087-4089)CCC>TCC	p.P1363S		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1363	Bromo.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7		Lung NSC(55;0.0659)|all_lung(88;0.152)				CACCTGAAGGGCCAGCTGAAG	0.592												
MLXIPL	51085	broad.mit.edu	37	7	73011248	73011248	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:73011248C>T	uc003tyn.1	-	10	1666	c.1618G>A	c.(1618-1620)GCC>ACC	p.A540T	MLXIPL_uc003tyj.1_5'UTR|MLXIPL_uc003tyk.1_Missense_Mutation_p.A540T|MLXIPL_uc003tyl.1_Missense_Mutation_p.A540T|MLXIPL_uc003tym.1_Missense_Mutation_p.A540T|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Missense_Mutation_p.A447T|MLXIPL_uc003tyq.1_Missense_Mutation_p.A282T	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	540					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGCTCCAGGGCTTGCTCCGGC	0.667												
PCLO	27445	broad.mit.edu	37	7	82764703	82764703	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:82764703C>T	uc003uhx.2	-	3	2452	c.2163G>A	c.(2161-2163)AAG>AAA	p.K721K	PCLO_uc003uhv.2_Silent_p.K721K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	667	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CAGGGGGCTGCTTGGCCTTGG	0.537												
ABCB4	5244	broad.mit.edu	37	7	87038559	87038559	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:87038559A>G	uc003uiv.1	-	24	3150	c.3074T>C	c.(3073-3075)CTG>CCG	p.L1025P	ABCB4_uc003uiw.1_Missense_Mutation_p.L1025P|ABCB4_uc003uix.1_Missense_Mutation_p.L978P	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	1025	Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TACAGGCTTCAGCCCCTCTTC	0.423												
PEX1	5189	broad.mit.edu	37	7	92129019	92129019	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:92129019T>C	uc003uly.2	-	16	2813	c.2717A>G	c.(2716-2718)AAG>AGG	p.K906R	PEX1_uc011khr.1_Missense_Mutation_p.K698R|PEX1_uc010ley.2_Missense_Mutation_p.K849R|PEX1_uc011khs.1_Missense_Mutation_p.K584R|PEX1_uc011kht.1_RNA	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	906					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)			ACAACATACCTTGACACTTAT	0.244												
CDK6	1021	broad.mit.edu	37	7	92355017	92355017	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:92355017T>A	uc011khw.1	-	4	872	c.460A>T	c.(460-462)ACC>TCC	p.T154S	CDK6_uc010lez.2_Missense_Mutation_p.T154S	NM_001259	NP_001250	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	154	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|skin(1)	2	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CCGCTGCTGGTCACCAGAATG	0.468			T	MLLT10	ALL							
SAMD9	54809	broad.mit.edu	37	7	92732375	92732375	+	Silent	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:92732375T>C	uc003umf.2	-	3	3292	c.3036A>G	c.(3034-3036)CTA>CTG	p.L1012L	SAMD9_uc003umg.2_Silent_p.L1012L	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1012						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AATTCTCAGTTAGCATATCCA	0.383												
CASD1	64921	broad.mit.edu	37	7	94184878	94184878	+	Silent	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:94184878T>C	uc003uni.3	+	18	2429	c.2202T>C	c.(2200-2202)CCT>CCC	p.P734P	CASD1_uc003unj.3_Silent_p.P734P	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1 precursor	734	Helical; (Potential).					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)			CTGGAAACCCTATGCTCAACA	0.373												
LMTK2	22853	broad.mit.edu	37	7	97822305	97822305	+	Missense_Mutation	SNP	C	C	T	rs61734172	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:97822305C>T	uc003upd.1	+	11	2821	c.2528C>T	c.(2527-2529)ACG>ATG	p.T843M		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	843					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)					ACCCAGCCCACGTGTTTAGAT	0.557												
BAIAP2L1	55971	broad.mit.edu	37	7	97946560	97946560	+	Missense_Mutation	SNP	C	C	T	rs151171453		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:97946560C>T	uc003upj.2	-	6	720	c.457G>A	c.(457-459)GCA>ACA	p.A153T		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	153	Potential.|IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			ovary(1)	1	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TATTTGAGTGCGTTTCGGCTT	0.348												
ARPC1A	10552	broad.mit.edu	37	7	98957328	98957328	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:98957328C>T	uc003upx.1	+	8	1097	c.950C>T	c.(949-951)ACG>ATG	p.T317M	ARPC1A_uc010lfu.1_RNA|ARPC1A_uc003upy.1_Missense_Mutation_p.T303M|ARPC1A_uc011kit.1_RNA	NM_006409	NP_006400	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex subunit 1A	317					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			ovary(1)	1	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			GACCGCAACACGGCCTTGGAG	0.537												
CYP3A43	64816	broad.mit.edu	37	7	99461224	99461224	+	Nonsense_Mutation	SNP	C	C	T	rs149091175		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:99461224C>T	uc003urx.1	+	12	1421	c.1318C>T	c.(1318-1320)CGA>TGA	p.R440*	CYP3A43_uc003ury.1_Nonsense_Mutation_p.R441*|CYP3A43_uc003urz.1_Intron|CYP3A43_uc003usa.1_RNA|CYP3A43_uc010lgi.1_Nonsense_Mutation_p.R330*|CYP3A43_uc003usb.1_Intron	NM_057095	NP_476436	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A,	440			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	AGCTGGACCCCGAAACTGCAT	0.398												
ZAN	7455	broad.mit.edu	37	7	100350276	100350276	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:100350276C>T	uc003uwj.2	+	14	2713	c.2548C>T	c.(2548-2550)CCC>TCC	p.P850S	ZAN_uc003uwk.2_Missense_Mutation_p.P850S|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	850	66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CATGGAAAAACCCACCATCTC	0.502												
ACHE	43	broad.mit.edu	37	7	100488914	100488914	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:100488914C>T	uc003uxd.2	-	3	1755	c.1599G>A	c.(1597-1599)CCG>CCA	p.P533P	UFSP1_uc003uxc.3_5'Flank|ACHE_uc003uxe.2_Silent_p.P533P|ACHE_uc003uxf.2_Silent_p.P533P|ACHE_uc003uxg.2_Silent_p.P533P|ACHE_uc003uxh.2_Silent_p.P445P|ACHE_uc003uxi.2_Silent_p.P533P	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	533					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CCGCCGTGTACGGGGGCCATT	0.706												
AP1S1	1174	broad.mit.edu	37	7	100799894	100799894	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:100799894T>G	uc003uxv.3	+	2	133	c.23T>G	c.(22-24)TTC>TGC	p.F8C		NM_001283	NP_001274	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1	8					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity				0	Lung NSC(181;0.168)|all_lung(186;0.215)					ATGCTATTATTCAGCCGGCAG	0.522												
CLDN15	24146	broad.mit.edu	37	7	100880766	100880766	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:100880766T>C	uc003uyg.1	-	1	351	c.97A>G	c.(97-99)ACT>GCT	p.T33A	CLDN15_uc003uyh.1_Missense_Mutation_p.T33A|CLDN15_uc003uyi.2_Missense_Mutation_p.T33A	NM_014343	NP_055158	P56746	CLD15_HUMAN	claudin 15	33	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(1)	1	Lung NSC(181;0.168)|all_lung(186;0.215)					CCGTGCACAGTGGACACTCGC	0.572												
FBXL13	222235	broad.mit.edu	37	7	102518012	102518012	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:102518012G>A	uc003vaq.2	-	16	1964	c.1537C>T	c.(1537-1539)CGA>TGA	p.R513*	FBXL13_uc010liq.1_Intron|FBXL13_uc010lir.1_Nonsense_Mutation_p.R513*|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Nonsense_Mutation_p.R513*	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13 isoform	513	LRR 11.										0						TCACAATTTCGTAAACTCAAG	0.323												
SYPL1	6856	broad.mit.edu	37	7	105739652	105739652	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:105739652G>A	uc003vdp.2	-	3	282	c.200C>T	c.(199-201)GCA>GTA	p.A67V	SYPL1_uc003vdo.2_Missense_Mutation_p.A49V	NM_006754	NP_006745	Q16563	SYPL1_HUMAN	synaptophysin-like 1 isoform a	67	MARVEL.|Vesicular (Potential).				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity				0						CTCAGTAACTGCAGGAGGACA	0.348												
PIK3CG	5294	broad.mit.edu	37	7	106509611	106509611	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:106509611C>T	uc003vdv.3	+	2	1690	c.1605C>T	c.(1603-1605)ACC>ACT	p.T535T	PIK3CG_uc003vdu.2_Silent_p.T535T|PIK3CG_uc003vdw.2_Silent_p.T535T	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	535					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						ATCAGCCCACCCCTGACCCGG	0.542												
COG5	10466	broad.mit.edu	37	7	106871061	106871061	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:106871061T>C	uc003ved.2	-	18	2722	c.2197A>G	c.(2197-2199)AGA>GGA	p.R733G	COG5_uc003vec.2_Missense_Mutation_p.R754G|COG5_uc003vee.2_Missense_Mutation_p.R754G	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	733					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						CGGTCTTACCTGAATGATCTC	0.313												
LRRN3	54674	broad.mit.edu	37	7	110763732	110763732	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:110763732A>G	uc003vft.3	+	4	1950	c.904A>G	c.(904-906)AGT>GGT	p.S302G	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.S302G|LRRN3_uc003vfs.3_Missense_Mutation_p.S302G	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	302	Extracellular (Potential).|LRR 10.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TTCCATCGATAGTCTTGCTGT	0.363												
LRRN3	54674	broad.mit.edu	37	7	110764048	110764048	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:110764048T>A	uc003vft.3	+	4	2266	c.1220T>A	c.(1219-1221)GTT>GAT	p.V407D	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.V407D|LRRN3_uc003vfs.3_Missense_Mutation_p.V407D	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	407	Extracellular (Potential).|LRRCT.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GGTCAGAATGTTCGGCAAGTG	0.438												
GPR37	2861	broad.mit.edu	37	7	124386748	124386748	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:124386748C>T	uc003vli.2	-	2	2324	c.1673G>A	c.(1672-1674)CGG>CAG	p.R558Q		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	558	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3						CATGAAGGCCCGACTGAAGGG	0.488												
ZNF800	168850	broad.mit.edu	37	7	127013401	127013401	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:127013401A>G	uc003vlx.1	-	5	2252	c.1989T>C	c.(1987-1989)CTT>CTC	p.L663L	ZNF800_uc003vlw.1_Silent_p.L566L|ZNF800_uc003vly.1_Silent_p.L663L|ZNF800_uc010lla.2_Silent_p.L663L	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	zinc finger protein 800	663					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTCACCAGACAAGAGCCTTAG	0.368												
ZNF800	168850	broad.mit.edu	37	7	127014560	127014560	+	Missense_Mutation	SNP	C	C	T	rs141987989	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:127014560C>T	uc003vlx.1	-	5	1093	c.830G>A	c.(829-831)CGC>CAC	p.R277H	ZNF800_uc003vlw.1_Missense_Mutation_p.R180H|ZNF800_uc003vly.1_Missense_Mutation_p.R277H|ZNF800_uc010lla.2_Missense_Mutation_p.R277H	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	zinc finger protein 800	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ATTCTTACTGCGTCCTTTAGA	0.368												
FSCN3	29999	broad.mit.edu	37	7	127236057	127236057	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:127236057G>A	uc003vmd.1	+	2	1060	c.841G>A	c.(841-843)GAT>AAT	p.D281N	FSCN3_uc003vmc.1_3'UTR|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_Missense_Mutation_p.D147N|FSCN3_uc010llc.1_Missense_Mutation_p.D281N	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	281						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1						AGTCATCTACGGCAAGTGCTG	0.517												
FAM71F1	84691	broad.mit.edu	37	7	128356976	128356976	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:128356976C>A	uc003vno.1	+	2	412	c.359C>A	c.(358-360)GCC>GAC	p.A120D	FAM71F1_uc010llo.1_Missense_Mutation_p.A21D|FAM71F1_uc011koq.1_Silent_p.G44G|FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Silent_p.G41G|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Missense_Mutation_p.A120D	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	testes development-related NYD-SP18	120										skin(1)	1						CTACTCATGGCCAGTGTCAAA	0.562												
AHCYL2	23382	broad.mit.edu	37	7	129062714	129062714	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:129062714C>T	uc011kov.1	+	13	1549	c.1495C>T	c.(1495-1497)CGA>TGA	p.R499*	AHCYL2_uc003vot.2_Nonsense_Mutation_p.R498*|AHCYL2_uc003vov.2_Nonsense_Mutation_p.R396*|AHCYL2_uc011kow.1_Nonsense_Mutation_p.R397*|AHCYL2_uc011kox.1_Nonsense_Mutation_p.R396*	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	S-adenosylhomocysteine hydrolase-like 2 isoform	499					one-carbon metabolic process		adenosylhomocysteinase activity			ovary(2)	2						GACCTGGGAGCGAGTGAGATC	0.512												
CPA2	1358	broad.mit.edu	37	7	129929544	129929544	+	Missense_Mutation	SNP	G	G	C	rs148949036		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:129929544G>C	uc003vpq.2	+	11	1236	c.1217G>C	c.(1216-1218)GGC>GCC	p.G406A		NM_001869	NP_001860	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic) precursor	406					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					ACCTGGCTTGGCTTGAAGGCA	0.527												
CPA4	51200	broad.mit.edu	37	7	129946724	129946724	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:129946724A>G	uc003vpr.2	+	7	736	c.689A>G	c.(688-690)TAT>TGT	p.Y230C	CPA4_uc011kpd.1_Missense_Mutation_p.Y197C|CPA4_uc011kpe.1_Missense_Mutation_p.Y126C	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4 preproprotein	230					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					GGATATGTGTATACTCAAACT	0.423												
CPA1	1357	broad.mit.edu	37	7	130021652	130021652	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:130021652G>A	uc003vpx.2	+	3	401	c.329G>A	c.(328-330)CGG>CAG	p.R110Q	CPA1_uc011kpf.1_Missense_Mutation_p.R22Q|CPA1_uc003vpw.2_Intron	NM_001868	NP_001859	P15085	CBPA1_HUMAN	carboxypeptidase A1 precursor	110					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					TTCCGGTCCCGGGCGCGCTCC	0.627											OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CPA1	1357	broad.mit.edu	37	7	130025028	130025028	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:130025028G>A	uc003vpx.2	+	8	901	c.829G>A	c.(829-831)GGC>AGC	p.G277S	CPA1_uc003vpw.2_Missense_Mutation_p.G111S	NM_001868	NP_001859	P15085	CBPA1_HUMAN	carboxypeptidase A1 precursor	277					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					GACTTACCACGGCAAGTTTGC	0.557												
PLXNA4	91584	broad.mit.edu	37	7	132174136	132174136	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:132174136C>A	uc003vra.3	-	3	1515	c.1286G>T	c.(1285-1287)AGG>ATG	p.R429M	PLXNA4_uc003vrc.2_Missense_Mutation_p.R429M|PLXNA4_uc003vrb.2_Missense_Mutation_p.R429M	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	429	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						CATGCGGTCCCTGTCCTCCGT	0.532												
CHCHD3	54927	broad.mit.edu	37	7	132754985	132754985	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:132754985G>A	uc003vre.2	-	2	222	c.86C>T	c.(85-87)TCG>TTG	p.S29L	CHCHD3_uc010lmi.2_RNA|CHCHD3_uc003vrf.2_Missense_Mutation_p.S29L|CHCHD3_uc010lmj.2_Intron|CHCHD3_uc011kpn.1_Missense_Mutation_p.S29L	NM_017812	NP_060282	Q9NX63	CHCH3_HUMAN	coiled-coil-helix-coiled-coil-helix domain	29					inner mitochondrial membrane organization|mitochondrial fusion	mitochondrial inner membrane	protein complex scaffold				0						CACATTTTCCGAAAGCTGGAA	0.368												
WDR91	29062	broad.mit.edu	37	7	134891882	134891882	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:134891882A>G	uc003vsp.2	-	4	646	c.584T>C	c.(583-585)CTG>CCG	p.L195P	WDR91_uc010lmq.2_5'UTR|WDR91_uc010lmr.2_RNA	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	WD repeat domain 91	195	Potential.									breast(2)|ovary(1)|skin(1)	4						CTTCTGACGCAGAACTTCATT	0.443												
STRA8	346673	broad.mit.edu	37	7	134925394	134925394	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:134925394C>T	uc011kpx.1	+	2	184	c.184C>T	c.(184-186)CGA>TGA	p.R62*		NM_182489	NP_872295	Q7Z7C7	STRA8_HUMAN	STRA8	62					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus					0						GGCCCGCCACCGAGCCACCCT	0.607												
NUP205	23165	broad.mit.edu	37	7	135272360	135272360	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:135272360G>A	uc003vsw.2	+	9	1287	c.1256G>A	c.(1255-1257)CGA>CAA	p.R419Q	NUP205_uc011kqa.1_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	419					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						GAAGATGCTCGAATGATTCAC	0.343												
NUP205	23165	broad.mit.edu	37	7	135310094	135310094	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:135310094A>G	uc003vsw.2	+	32	4693	c.4662A>G	c.(4660-4662)GAA>GAG	p.E1554E	NUP205_uc003vsx.2_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1554					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						ATACTTATGAATCTAAAATGG	0.378												
C7orf34	135927	broad.mit.edu	37	7	142637594	142637594	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:142637594G>A	uc003wca.2	+	2	405	c.364G>A	c.(364-366)GCC>ACC	p.A122T		NM_178829	NP_849151	Q96L11	CG034_HUMAN	hypothetical protein LOC135927	97						extracellular region					0	Melanoma(164;0.059)					CTTTAGTCTGGCCAGTGTCAT	0.557												
KEL	3792	broad.mit.edu	37	7	142638384	142638384	+	Silent	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:142638384T>C	uc003wcb.2	-	19	2364	c.2154A>G	c.(2152-2154)GCA>GCG	p.A718A		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	718	Extracellular (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)					GAGCACCACGTGCACAGCGGA	0.602												
KEL	3792	broad.mit.edu	37	7	142643397	142643397	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:142643397C>T	uc003wcb.2	-	11	1421	c.1211G>A	c.(1210-1212)CGC>CAC	p.R404H		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	404	Extracellular (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)					CCATCGTGGGCGGGCAGGCTA	0.567												
CHPF2	54480	broad.mit.edu	37	7	150935717	150935717	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:150935717G>A	uc003wjr.1	+	4	3782	c.2269G>A	c.(2269-2271)GCC>ACC	p.A757T	CHPF2_uc003wjq.1_Missense_Mutation_p.A749T	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	757	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(1)	1						AGGGGGCCGTGCCCAGCTGGC	0.622												
PRKAG2	51422	broad.mit.edu	37	7	151372719	151372719	+	Silent	SNP	G	G	A	rs141804012		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:151372719G>A	uc003wkk.2	-	4	1082	c.471C>T	c.(469-471)TCC>TCT	p.S157S	PRKAG2_uc011kvl.1_Silent_p.S33S|PRKAG2_uc003wkj.2_Silent_p.S113S|PRKAG2_uc010lqe.1_RNA|PRKAG2_uc003wkm.1_Silent_p.S157S	NM_016203	NP_057287	Q9UGJ0	AAKG2_HUMAN	AMP-activated protein kinase gamma2 subunit	157					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(1)|kidney(1)	2	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		AGGAGAGGCCGGAGGCTGCAG	0.592												
PTPRN2	5799	broad.mit.edu	37	7	157959937	157959937	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:157959937G>A	uc003wno.2	-	6	717	c.596C>T	c.(595-597)ACG>ATG	p.T199M	PTPRN2_uc003wnp.2_Missense_Mutation_p.T182M|PTPRN2_uc003wnq.2_Missense_Mutation_p.T199M|PTPRN2_uc003wnr.2_Missense_Mutation_p.T161M|PTPRN2_uc011kwa.1_Missense_Mutation_p.T222M	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	199	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)		CAGCGCAGACGTGTGGGCCAC	0.622												
MYOM2	9172	broad.mit.edu	37	8	2044088	2044088	+	Silent	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:2044088C>A	uc003wpx.3	+	18	2265	c.2127C>A	c.(2125-2127)ACC>ACA	p.T709T	MYOM2_uc011kwi.1_Silent_p.T134T	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	709					muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCCTTGCAGCCGTCCCGTCCC	0.622												
CSMD1	64478	broad.mit.edu	37	8	2796120	2796120	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:2796120C>A	uc011kwk.1	-	70	11075	c.10685G>T	c.(10684-10686)TGT>TTT	p.C3562F	CSMD1_uc011kwj.1_Missense_Mutation_p.C2876F|CSMD1_uc010lrg.2_Missense_Mutation_p.C1453F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3562	Cytoplasmic (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TACCACTGTACAGACTGTGTT	0.463												
CSMD1	64478	broad.mit.edu	37	8	2857552	2857552	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:2857552G>A	uc011kwk.1	-	53	8524	c.8134C>T	c.(8134-8136)CGG>TGG	p.R2712W	CSMD1_uc011kwj.1_Missense_Mutation_p.R2041W|CSMD1_uc010lrg.2_Missense_Mutation_p.R722W	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2712	Extracellular (Potential).|Sushi 18.					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)		CCCACAAGCCGGAAACCAGGA	0.527												
CSMD1	64478	broad.mit.edu	37	8	3216699	3216699	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:3216699C>A	uc011kwk.1	-	21	3672	c.3282G>T	c.(3280-3282)TGG>TGT	p.W1094C	CSMD1_uc011kwj.1_Missense_Mutation_p.W486C|CSMD1_uc003wqe.2_Missense_Mutation_p.W250C	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1094	Sushi 6.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GAGGTGCACTCCACACACGGC	0.572												
ANGPT2	285	broad.mit.edu	37	8	6372237	6372237	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:6372237G>A	uc003wqj.3	-	6	1322	c.993C>T	c.(991-993)GGC>GGT	p.G331G	MCPH1_uc003wqi.2_Intron|ANGPT2_uc003wqk.3_Silent_p.G330G|ANGPT2_uc010lri.2_Silent_p.G279G|ANGPT2_uc003wql.3_Silent_p.G330G	NM_001147	NP_001138	O15123	ANGP2_HUMAN	angiopoietin 2 isoform a precursor	331	Fibrinogen C-terminal.				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			upper_aerodigestive_tract(1)	1		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		AATCAACGCTGCCATCCTCAC	0.448												
PRSS55	203074	broad.mit.edu	37	8	10389018	10389018	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:10389018C>T	uc003wta.2	+	3	576	c.561C>T	c.(559-561)CGC>CGT	p.R187R	uc010lru.2_Intron|PRSS55_uc003wtb.2_RNA	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	hypothetical protein LOC203074 precursor	187	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			ovary(1)	1						CCACATGGCGCGAATGCTGGG	0.602												
AMAC1L2	83650	broad.mit.edu	37	8	11188883	11188883	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:11188883C>T	uc003wtp.1	+	1	389	c.268C>T	c.(268-270)CGT>TGT	p.R90C		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	acyl-malonyl condensing enzyme	90	DUF6 1.					integral to membrane					0			STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)		ACTTAAACTGCGTGGCGACCC	0.582												
MTUS1	57509	broad.mit.edu	37	8	17542025	17542025	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:17542025G>A	uc003wxv.2	-	7	3124	c.2650C>T	c.(2650-2652)CGA>TGA	p.R884*	MTUS1_uc003wxt.2_Nonsense_Mutation_p.R131*|MTUS1_uc011kyg.1_Nonsense_Mutation_p.R29*|MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Nonsense_Mutation_p.R830*|MTUS1_uc003wxs.2_Nonsense_Mutation_p.R50*|hsa-mir-548v|MI0014174_5'Flank	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	884						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		CATAAGCTTCGAGGATTCTTT	0.398												
GFRA2	2675	broad.mit.edu	37	8	21608373	21608373	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:21608373C>T	uc003wzu.1	-	4	1196	c.521G>A	c.(520-522)TGC>TAC	p.C174Y	GFRA2_uc003wzv.1_Missense_Mutation_p.C69Y|GFRA2_uc003wzw.1_Missense_Mutation_p.C41Y|DOK2_uc003wzx.1_Intron	NM_001495	NP_001486	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2 isoform a	174						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity				0				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		CAGCTTCTTGCAGTTGTCATT	0.617												
XPO7	23039	broad.mit.edu	37	8	21839264	21839264	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:21839264A>G	uc003xaa.3	+	10	1082	c.980A>G	c.(979-981)TAC>TGC	p.Y327C	XPO7_uc010lti.2_Missense_Mutation_p.Y336C|XPO7_uc010ltk.2_Missense_Mutation_p.Y328C	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	327				Missing (in Ref. 3; BAA34465).	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)		CCAAACAATTACCATGAGTTT	0.403												
BMP1	649	broad.mit.edu	37	8	22051620	22051620	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:22051620C>T	uc003xbg.2	+	10	1474	c.1230C>T	c.(1228-1230)AGC>AGT	p.S410S	BMP1_uc003xba.2_Silent_p.S410S|BMP1_uc003xbb.2_Silent_p.S410S|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_Silent_p.S159S|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_Silent_p.S159S|BMP1_uc011kzc.1_Silent_p.S159S|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	NM_006129	NP_006120	P13497	BMP1_HUMAN	bone morphogenetic protein 1 isoform 3	410	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)	3				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCACTGACAGCCGCCTCTGGG	0.592												
BMP1	649	broad.mit.edu	37	8	22052262	22052262	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:22052262A>G	uc003xbg.2	+	12	1713	c.1469A>G	c.(1468-1470)TAC>TGC	p.Y490C	BMP1_uc003xba.2_Missense_Mutation_p.Y490C|BMP1_uc003xbb.2_Missense_Mutation_p.Y490C|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_Missense_Mutation_p.Y239C|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_Missense_Mutation_p.Y239C|BMP1_uc011kzc.1_Missense_Mutation_p.Y239C|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	NM_006129	NP_006120	P13497	BMP1_HUMAN	bone morphogenetic protein 1 isoform 3	490	CUB 2.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)	3				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AGCTGTGCCTACGACTATCTG	0.612												
BIN3	55909	broad.mit.edu	37	8	22488003	22488003	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:22488003C>T	uc003xcl.2	-	5	346	c.249G>A	c.(247-249)ACG>ACA	p.T83T	BIN3_uc003xck.2_Silent_p.T35T|BIN3_uc010ltw.2_Silent_p.T29T	NM_018688	NP_061158	Q9NQY0	BIN3_HUMAN	bridging integrator 3	83	BAR.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity				0		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		TGTCCAGGGCCGTCACCATGT	0.552												
RHOBTB2	23221	broad.mit.edu	37	8	22862133	22862133	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:22862133C>T	uc003xcq.2	+	2	723	c.186C>T	c.(184-186)TGC>TGT	p.C62C	RHOBTB2_uc003xcp.2_Silent_p.C84C|RHOBTB2_uc011kzp.1_Silent_p.C69C	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	62	Rho-like.				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)		ATCGTGTGTGCCAGGAGGTAA	0.622											OREG0018628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RHOBTB2	23221	broad.mit.edu	37	8	22865598	22865598	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:22865598C>G	uc003xcq.2	+	6	2131	c.1594C>G	c.(1594-1596)CCA>GCA	p.P532A	RHOBTB2_uc003xcp.2_Missense_Mutation_p.P554A|RHOBTB2_uc011kzp.1_Missense_Mutation_p.P539A|uc003xcr.2_RNA	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	532	BTB 2.				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)		GTTTGGGGGGCCATTTGTGGA	0.567												
LOXL2	4017	broad.mit.edu	37	8	23191025	23191025	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:23191025G>A	uc003xdh.1	-	5	1194	c.855C>T	c.(853-855)CCC>CCT	p.P285P	uc003xdj.2_5'Flank|uc003xdi.2_5'Flank	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	285	SRCR 2.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CATTCTTCATGGGGTCCAGTG	0.617												
SLC25A37	51312	broad.mit.edu	37	8	23429231	23429231	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:23429231G>A	uc003xdo.2	+	4	1033	c.880G>A	c.(880-882)GGC>AGC	p.G294S	SLC25A37_uc003xdp.2_RNA|SLC25A37_uc010ltz.2_RNA|SLC25A37_uc003xdq.2_RNA|uc003xds.2_5'Flank	NM_016612	NP_057696	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25, member 37	294	Solcar 3.				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane					0		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CCAGCTCAACGGCCTGGCCGG	0.577												
ADAM7	8756	broad.mit.edu	37	8	24321458	24321458	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:24321458G>A	uc003xeb.2	+	4	410	c.297G>A	c.(295-297)AGG>AGA	p.R99R	ADAM7_uc003xea.1_Silent_p.R99R	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	99	Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(1)|kidney(1)	5		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CGTTCACCAGGCATCCTCAGA	0.428												
EBF2	64641	broad.mit.edu	37	8	25708244	25708244	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:25708244C>T	uc003xes.1	-	15	1579	c.1562G>A	c.(1561-1563)AGC>AAC	p.S521N	PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2	521	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			ovary(3)|skin(1)	4		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GGAGGATGTGCTGGAAGACCC	0.443												
SCARA3	51435	broad.mit.edu	37	8	27507225	27507225	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:27507225C>T	uc003xga.1	+	2	155	c.14C>T	c.(13-15)TCG>TTG	p.S5L	SCARA3_uc003xgb.1_Missense_Mutation_p.S5L	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3 isoform 1	5	Cytoplasmic (Potential).				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity	p.S5L(1)		skin(2)|ovary(1)|breast(1)	4		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		ATAGTGAGGTCGGCCGGCGGC	0.592												
SCARA3	51435	broad.mit.edu	37	8	27507232	27507232	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:27507232C>T	uc003xga.1	+	2	162	c.21C>T	c.(19-21)GGC>GGT	p.G7G	SCARA3_uc003xgb.1_Silent_p.G7G	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3 isoform 1	7	Cytoplasmic (Potential).				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			skin(2)|ovary(1)|breast(1)	4		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GGTCGGCCGGCGGCGATGGAG	0.592												
MAK16	84549	broad.mit.edu	37	8	33354189	33354189	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:33354189T>C	uc003xjj.2	+	8	609	c.569T>C	c.(568-570)CTG>CCG	p.L190P	C8orf41_uc010lvu.1_Intron	NM_032509	NP_115898	Q9BXY0	MAK16_HUMAN	MAK16 homolog	190						nucleolus				ovary(1)	1						GACAAAGCCCTGGAACAACAG	0.363												
UNC5D	137970	broad.mit.edu	37	8	35624428	35624428	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:35624428G>A	uc003xjr.1	+	15	2650	c.2322G>A	c.(2320-2322)CCG>CCA	p.P774P	UNC5D_uc003xjs.1_Silent_p.P769P|UNC5D_uc003xju.1_Silent_p.P350P	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	774	Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGGAAGTCCCGTTCTCCCGCG	0.527												
ASH2L	9070	broad.mit.edu	37	8	37986420	37986420	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:37986420C>A	uc003xkt.3	+	12	1536	c.1478C>A	c.(1477-1479)CCT>CAT	p.P493H	ASH2L_uc011lbk.1_Missense_Mutation_p.P354H|ASH2L_uc003xku.3_Missense_Mutation_p.P399H|ASH2L_uc010lwa.2_Missense_Mutation_p.P399H	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	ash2-like isoform a	493	B30.2/SPRY.				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				ATTAATCTTCCTGAAGACACA	0.493												
LSM1	27257	broad.mit.edu	37	8	38027335	38027335	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:38027335G>A	uc003xkw.2	-	3	404	c.216C>T	c.(214-216)GTC>GTT	p.V72V	LSM1_uc003xkx.2_RNA	NM_014462	NP_055277	O15116	LSM1_HUMAN	Lsm1 protein	72					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|mRNA processing|RNA splicing, via transesterification reactions	cytosol|nucleus|ribonucleoprotein complex	protein binding|RNA binding				0	Colorectal(12;0.000442)					CTCCTAGTAGGACCACATTTT	0.363												
CHRNA6	8973	broad.mit.edu	37	8	42611455	42611455	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:42611455G>A	uc003xpj.2	-	5	933	c.887C>T	c.(886-888)ACA>ATA	p.T296I	CHRNA6_uc011lcw.1_Missense_Mutation_p.T281I	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6	296						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CACCAGAGATGTGGATGGGAT	0.473												
MCM4	4173	broad.mit.edu	37	8	48878843	48878843	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:48878843C>T	uc003xqk.1	+	9	1024	c.929C>T	c.(928-930)GCC>GTC	p.A310V	MCM4_uc003xql.1_Missense_Mutation_p.A310V|MCM4_uc011ldi.1_Missense_Mutation_p.A297V	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	310					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(2)|skin(2)	4		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CAAGTGTGTGCCCACACGACC	0.617												
PXDNL	137902	broad.mit.edu	37	8	52321490	52321490	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:52321490G>A	uc003xqu.3	-	17	2795	c.2694C>T	c.(2692-2694)AAC>AAT	p.N898N	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	898					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)				TCCCGTAAACGTTGGAGCCAT	0.622												
ST18	9705	broad.mit.edu	37	8	53079492	53079492	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:53079492C>T	uc003xqz.2	-	6	1280	c.1124G>A	c.(1123-1125)GGC>GAC	p.G375D	ST18_uc011ldq.1_Missense_Mutation_p.G22D|ST18_uc011ldr.1_Missense_Mutation_p.G340D|ST18_uc011lds.1_Missense_Mutation_p.G280D|ST18_uc003xra.2_Missense_Mutation_p.G375D|ST18_uc003xrb.2_Missense_Mutation_p.G375D	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	375	C2HC-type 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GTGTCCCGTGCCATCACATCC	0.537												
RP1	6101	broad.mit.edu	37	8	55533959	55533959	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:55533959G>A	uc003xsd.1	+	2	581	c.433G>A	c.(433-435)GCT>ACT	p.A145T	RP1_uc011ldy.1_Missense_Mutation_p.A145T	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	145					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)			CGTAGCCGTCGCTGCTCCCGG	0.701												
RP1	6101	broad.mit.edu	37	8	55534032	55534032	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:55534032C>T	uc003xsd.1	+	2	654	c.506C>T	c.(505-507)GCG>GTG	p.A169V	RP1_uc011ldy.1_Missense_Mutation_p.A169V	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	169	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)			ACGAGGCGTGCGGTTCTTCTG	0.647												
TGS1	96764	broad.mit.edu	37	8	56698411	56698411	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:56698411A>G	uc003xsj.3	+	3	687	c.300A>G	c.(298-300)CCA>CCG	p.P100P	TGS1_uc010lyh.2_Silent_p.P4P	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase homolog	100					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			ovary(1)|lung(1)|breast(1)	3		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TGGGATTGCCACTTCAATTTG	0.363												
CYP7B1	9420	broad.mit.edu	37	8	65528501	65528501	+	Silent	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:65528501T>C	uc003xvj.2	-	3	801	c.597A>G	c.(595-597)AAA>AAG	p.K199K		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	199					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)				AAACAATAACTTTTCCATATA	0.328												
ADHFE1	137872	broad.mit.edu	37	8	67361171	67361171	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:67361171C>T	uc003xwb.3	+	8	734	c.700C>T	c.(700-702)CGA>TGA	p.R234*	ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Nonsense_Mutation_p.R186*|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_RNA|ADHFE1_uc011les.1_Nonsense_Mutation_p.R164*|ADHFE1_uc011leq.1_RNA|ADHFE1_uc011ler.1_RNA	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	234					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)			CATGCCTGCCCGAGTGGTCGC	0.498												
PREX2	80243	broad.mit.edu	37	8	68956736	68956736	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:68956736G>A	uc003xxv.1	+	8	881	c.854G>A	c.(853-855)AGC>AAC	p.S285N	PREX2_uc003xxu.1_Missense_Mutation_p.S285N|PREX2_uc011lez.1_Missense_Mutation_p.S220N	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	285	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						TTGAAGAACAGCAAGGCATCT	0.388												
SULF1	23213	broad.mit.edu	37	8	70541824	70541824	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:70541824C>T	uc010lza.1	+	19	2911	c.2194C>T	c.(2194-2196)CGG>TGG	p.R732W	SULF1_uc003xyd.2_Missense_Mutation_p.R732W|SULF1_uc003xye.2_Missense_Mutation_p.R732W|SULF1_uc003xyf.2_Missense_Mutation_p.R732W|SULF1_uc003xyg.2_Missense_Mutation_p.R732W|SULF1_uc003xyh.1_RNA|SULF1_uc003xyi.1_Translation_Start_Site	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	732					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GGAGAAGAGACGGCAGAGGAA	0.537												
XKR9	389668	broad.mit.edu	37	8	71646272	71646272	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:71646272G>A	uc003xyq.2	+	5	1269	c.735G>A	c.(733-735)TGG>TGA	p.W245*	XKR9_uc010lze.2_Nonsense_Mutation_p.W245*|XKR9_uc010lzd.2_Nonsense_Mutation_p.W113*	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related	245						integral to membrane				ovary(1)|skin(1)	2	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GTATAATATGGGCATTTAAAA	0.274												
CRISPLD1	83690	broad.mit.edu	37	8	75898440	75898440	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:75898440G>A	uc003yan.2	+	2	593	c.218G>A	c.(217-219)CGA>CAA	p.R73Q		NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain	73						extracellular region				ovary(1)|central_nervous_system(1)	2	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			AATAAATTACGAAGTCAGGTG	0.398												
ZFHX4	79776	broad.mit.edu	37	8	77766151	77766151	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:77766151A>G	uc003yav.2	+	10	7246	c.6859A>G	c.(6859-6861)AAA>GAA	p.K2287E	ZFHX4_uc003yau.1_Missense_Mutation_p.K2332E|ZFHX4_uc003yaw.1_Missense_Mutation_p.K2287E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2287	C2H2-type 15; degenerate.					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)			TACGCATCAGAAAAAGCAGTG	0.423										HNSCC(33;0.089)		
PSKH2	85481	broad.mit.edu	37	8	87076335	87076335	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:87076335C>A	uc011lfy.1	-	2	711	c.711G>T	c.(709-711)AAG>AAT	p.K237N		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	237	Protein kinase.						ATP binding|protein serine/threonine kinase activity			stomach(2)|lung(2)|ovary(1)	5			STAD - Stomach adenocarcinoma(118;0.129)			TGGTATAAGGCTTCCTTAGCA	0.463												
DECR1	1666	broad.mit.edu	37	8	91013752	91013752	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:91013752T>C	uc003yek.1	+	1	173	c.32T>C	c.(31-33)CTG>CCG	p.L11P	DECR1_uc011lgc.1_5'UTR|DECR1_uc011lgd.1_RNA	NM_001359	NP_001350	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1 precursor	11					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH				0			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TTCTTTACTCTGGGGTCCCGG	0.672											OREG0018857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DECR1	1666	broad.mit.edu	37	8	91031391	91031391	+	Silent	SNP	A	A	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:91031391A>T	uc003yek.1	+	4	549	c.408A>T	c.(406-408)GGA>GGT	p.G136G	DECR1_uc011lgc.1_Silent_p.G127G|DECR1_uc011lgd.1_RNA	NM_001359	NP_001350	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1 precursor	136					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH				0			BRCA - Breast invasive adenocarcinoma(11;0.00953)			AAGTTGCAGGACATCCTAATG	0.363												
RUNX1T1	862	broad.mit.edu	37	8	93029539	93029539	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:93029539C>T	uc003yfd.2	-	2	225	c.141G>A	c.(139-141)ACG>ACA	p.T47T	RUNX1T1_uc003yfc.1_Silent_p.T20T|RUNX1T1_uc003yfe.1_Silent_p.T10T|RUNX1T1_uc010mao.2_Silent_p.T20T|RUNX1T1_uc011lgi.1_Silent_p.T58T|RUNX1T1_uc003yfh.1_Silent_p.T10T|RUNX1T1_uc003yfb.1_Silent_p.T10T|RUNX1T1_uc003yff.1_Silent_p.T10T|RUNX1T1_uc003yfg.1_Silent_p.T10T	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	47					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)			GCCTAGATTGCGTCTTCACAT	0.478												
CDH17	1015	broad.mit.edu	37	8	95188800	95188800	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:95188800G>A	uc003ygh.2	-	5	518	c.393C>T	c.(391-393)TAC>TAT	p.Y131Y	CDH17_uc011lgo.1_Silent_p.Y131Y|CDH17_uc011lgp.1_Silent_p.Y131Y	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	131	Extracellular (Potential).|Cadherin 2.					integral to membrane	calcium ion binding			ovary(5)|skin(1)	6	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTGAGCCTTCGTACTTTGACT	0.507												
KIAA1429	25962	broad.mit.edu	37	8	95531575	95531575	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:95531575A>G	uc003ygo.1	-	9	2164	c.2151T>C	c.(2149-2151)GGT>GGC	p.G717G	KIAA1429_uc003ygp.2_Silent_p.G717G|KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	717					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AAAAAAGAAGACCCTTCTGTG	0.413												
INTS8	55656	broad.mit.edu	37	8	95888348	95888348	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:95888348C>T	uc003yhb.2	+	24	2861	c.2735C>T	c.(2734-2736)GCG>GTG	p.A912V	INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.A722V	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	integrator complex subunit 8	912					snRNA processing	integrator complex	protein binding				0	Breast(36;1.05e-06)					TACAAAACAGCGTTTAAATCT	0.308												
CCNE2	9134	broad.mit.edu	37	8	95906149	95906149	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:95906149C>T	uc003yhc.2	-	4	244	c.135G>A	c.(133-135)GAG>GAA	p.E45E	C8orf38_uc003yhe.1_5'Flank|C8orf38_uc003yhf.2_5'Flank|CCNE2_uc003yhd.2_Silent_p.E45E	NM_057749	NP_477097	O96020	CCNE2_HUMAN	cyclin E2	45					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)					TCTTGGTGACCTCCTCTCTTC	0.393												
C8orf38	137682	broad.mit.edu	37	8	96044227	96044227	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:96044227C>T	uc003yhj.2	+	2	218	c.202C>T	c.(202-204)CGG>TGG	p.R68W	C8orf38_uc003yhe.1_RNA|C8orf38_uc003yhf.2_Translation_Start_Site|C8orf38_uc011lgs.1_RNA|C8orf38_uc003yhi.2_Missense_Mutation_p.R16W|C8orf38_uc003yhk.2_RNA|C8orf38_uc003yhl.2_Translation_Start_Site	NM_152416	NP_689629	Q330K2	CH038_HUMAN	hypothetical protein LOC137682 precursor	68					biosynthetic process	mitochondrion	transferase activity				0	Breast(36;3.32e-06)					TTACAGGAAACGGGATTATGA	0.418												
MATN2	4147	broad.mit.edu	37	8	99030335	99030335	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:99030335C>T	uc003yic.2	+	12	2041	c.1810C>T	c.(1810-1812)CGC>TGC	p.R604C	MATN2_uc010mbh.1_Missense_Mutation_p.R563C|MATN2_uc003yid.2_Missense_Mutation_p.R604C|MATN2_uc003yie.1_Missense_Mutation_p.R604C|MATN2_uc010mbi.1_Missense_Mutation_p.R437C|MATN2_uc010mbj.1_Missense_Mutation_p.R103C	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	604	EGF-like 9.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GGATGGGAAACGCTGCCGAAG	0.473												
OSR2	116039	broad.mit.edu	37	8	99961765	99961765	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:99961765G>A	uc003yir.2	+	2	1120	c.585G>A	c.(583-585)ACG>ACA	p.T195T	OSR2_uc010mbn.2_Silent_p.T195T|OSR2_uc003yiq.2_Silent_p.T195T|OSR2_uc011lgx.1_Silent_p.T316T	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	odd-skipped related 2 isoform a	195					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			central_nervous_system(1)	1	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			GGACCCACACGGACGAGAGGC	0.537												
GRHL2	79977	broad.mit.edu	37	8	102589722	102589722	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:102589722G>A	uc010mbu.2	+	7	1308	c.978G>A	c.(976-978)ACG>ACA	p.T326T		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	transcription factor CP2-like 3	326						cytoplasm|nucleus	DNA binding			ovary(2)|skin(1)	3	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GGCAGCATACGGCGAAGCAGA	0.498												
RIMS2	9699	broad.mit.edu	37	8	105001565	105001565	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:105001565G>A	uc003yls.2	+	15	2535	c.2294G>A	c.(2293-2295)CGC>CAC	p.R765H	RIMS2_uc003ylp.2_Missense_Mutation_p.R987H|RIMS2_uc003ylw.2_Missense_Mutation_p.R779H|RIMS2_uc003ylq.2_Missense_Mutation_p.R779H|RIMS2_uc003ylr.2_Missense_Mutation_p.R826H	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1049					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGAGGGACCCGCACTATGACC	0.378										HNSCC(12;0.0054)		
TM7SF4	81501	broad.mit.edu	37	8	105361024	105361024	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:105361024A>T	uc003ylx.1	+	2	293	c.244A>T	c.(244-246)ATT>TTT	p.I82F		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	82					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ACGATGTTTTATTCTTCTTGT	0.498												
LRP12	29967	broad.mit.edu	37	8	105509656	105509656	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:105509656C>A	uc003yma.2	-	5	1219	c.1124G>T	c.(1123-1125)TGT>TTT	p.C375F	LRP12_uc003ymb.2_Missense_Mutation_p.C356F|LRP12_uc003ylz.2_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	375	Extracellular (Potential).|LDL-receptor class A 3.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCATGGCAAACAGAACCCATC	0.448												
LRP12	29967	broad.mit.edu	37	8	105509809	105509809	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:105509809T>A	uc003yma.2	-	5	1066	c.971A>T	c.(970-972)AAT>ATT	p.N324I	LRP12_uc003ymb.2_Missense_Mutation_p.N305I|LRP12_uc003ylz.2_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	324	Extracellular (Potential).|CUB 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTGTGTGGATTCTCCTCTAA	0.383												
TRPS1	7227	broad.mit.edu	37	8	116599521	116599521	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:116599521G>A	uc003ynz.2	-	4	2827	c.2368C>T	c.(2368-2370)CGC>TGC	p.R790C	TRPS1_uc011lhy.1_Missense_Mutation_p.R794C|TRPS1_uc003yny.2_Missense_Mutation_p.R803C|TRPS1_uc010mcy.2_Missense_Mutation_p.R790C	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	790	Mediates interaction with GLI3.				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)			GTCACATTGCGAAGGTCATCA	0.567									Langer-Giedion_syndrome			
COL14A1	7373	broad.mit.edu	37	8	121237389	121237389	+	Silent	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:121237389T>C	uc003yox.2	+	15	2065	c.1800T>C	c.(1798-1800)ACT>ACC	p.T600T	COL14A1_uc003yoy.2_Silent_p.T278T	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	600	Fibronectin type-III 4.				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)			CAGAGTATACTATTGCTATTT	0.403												
MTBP	27085	broad.mit.edu	37	8	121466147	121466147	+	Splice_Site	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:121466147T>C	uc003ypc.1	+	5	529	c.484_splice	c.e5+2	p.G162_splice	MTBP_uc011lie.1_Splice_Site	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53						cell cycle arrest					skin(2)|ovary(1)	3	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CTGCTCCTGGTAATATTTTAT	0.313												
FAM91A1	157769	broad.mit.edu	37	8	124799557	124799557	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:124799557G>A	uc003yqv.2	+	13	1196	c.1135G>A	c.(1135-1137)GCA>ACA	p.A379T	FAM91A1_uc011lik.1_Missense_Mutation_p.A379T|FAM91A1_uc011lil.1_Missense_Mutation_p.A137T	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	379										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)			GAAGCGCATCGCATTCCTGTT	0.378												
FER1L6	654463	broad.mit.edu	37	8	125131143	125131143	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:125131143T>C	uc003yqw.2	+	40	5554	c.5348T>C	c.(5347-5349)GTT>GCT	p.V1783A	uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1783	Cytoplasmic (Potential).					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)			AAAAATCCTGTTGGAAAAGCC	0.498												
MTSS1	9788	broad.mit.edu	37	8	125740157	125740157	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:125740157C>A	uc003yrk.2	-	1	574	c.40G>T	c.(40-42)GGC>TGC	p.G14C	MTSS1_uc003yrj.2_Missense_Mutation_p.G14C|MTSS1_uc003yrl.2_Missense_Mutation_p.G14C	NM_014751	NP_055566	O43312	MTSS1_HUMAN	metastasis suppressor 1	14	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			ovary(1)	1	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TGGAAGAGGCCTCCGAGCGCG	0.557												
ASAP1	50807	broad.mit.edu	37	8	131072914	131072914	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:131072914C>T	uc003yta.1	-	27	3131	c.3103G>A	c.(3103-3105)GCC>ACC	p.A1035T	ASAP1_uc003ysz.1_Missense_Mutation_p.A846T|ASAP1_uc011liw.1_Missense_Mutation_p.A1028T	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	1035					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						TTTTGGATGGCGTCTCTGGAC	0.542												
ASAP1	50807	broad.mit.edu	37	8	131370319	131370319	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:131370319A>G	uc003yta.1	-	2	158	c.130T>C	c.(130-132)TCC>CCC	p.S44P	ASAP1_uc011liw.1_Missense_Mutation_p.S37P	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	44					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						GTGAAGCTGGACGTGGTGGGC	0.682												
KCNQ3	3786	broad.mit.edu	37	8	133144483	133144483	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:133144483T>C	uc003ytj.2	-	14	2053	c.1828A>G	c.(1828-1830)ACA>GCA	p.T610A	KCNQ3_uc010mdt.2_Missense_Mutation_p.T598A	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	610					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATTTCTGATGTGGATGGTCTG	0.383												
FAM135B	51059	broad.mit.edu	37	8	139189644	139189644	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:139189644G>A	uc003yuy.2	-	11	1220	c.1049C>T	c.(1048-1050)GCC>GTC	p.A350V	FAM135B_uc003yux.2_Missense_Mutation_p.A251V|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	350										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTAAAAGAAGGCCTCAGAAAA	0.403										HNSCC(54;0.14)		
EIF2C2	27161	broad.mit.edu	37	8	141570576	141570576	+	Silent	SNP	C	C	T	rs144947708	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:141570576C>T	uc003yvn.2	-	5	592	c.552G>A	c.(550-552)GCG>GCA	p.A184A	EIF2C2_uc010men.2_Silent_p.A107A|EIF2C2_uc010meo.2_Silent_p.A184A	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	184					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)			AGCCTTCGGACGCGGTGAAGA	0.602												
PTP4A3	11156	broad.mit.edu	37	8	142441117	142441117	+	Silent	SNP	G	G	A	rs145258592		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:142441117G>A	uc003ywg.1	+	5	829	c.495G>A	c.(493-495)ACG>ACA	p.T165T	PTP4A3_uc003ywh.1_Silent_p.T140T|PTP4A3_uc010met.1_Missense_Mutation_p.R79H	NM_032611	NP_116000	O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	165						early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			ACCCACACACGCACAAGACCC	0.617												
JRK	8629	broad.mit.edu	37	8	143747298	143747298	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:143747298C>T	uc003ywo.2	-	2	694	c.180G>A	c.(178-180)GCG>GCA	p.A60A	JRK_uc003ywp.2_Silent_p.A60A|JRK_uc010mew.1_Silent_p.A60A	NM_001077527	NP_001070995			jerky isoform b												0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				ggagcagctgcgccttgtggg	0												
RHPN1	114822	broad.mit.edu	37	8	144457822	144457822	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:144457822G>A	uc003yyb.2	+	2	293	c.160G>A	c.(160-162)GCT>ACT	p.A54T		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	rhophilin 1	54	REM.				signal transduction	intracellular				large_intestine(1)	1	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GCGGACGGGCGCTGAGAACCT	0.667												
ZC3H3	23144	broad.mit.edu	37	8	144620861	144620861	+	Missense_Mutation	SNP	C	C	T	rs75499773		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:144620861C>T	uc003yyd.2	-	2	705	c.676G>A	c.(676-678)GTC>ATC	p.V226I		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	226					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CTCGCCTTGACGGCAATCACA	0.662												
SCRIB	23513	broad.mit.edu	37	8	144874253	144874253	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:144874253C>A	uc003yzp.1	-	33	4572	c.4565G>T	c.(4564-4566)AGG>ATG	p.R1522M	SCRIB_uc003yzn.1_Missense_Mutation_p.R255M|SCRIB_uc003yzo.1_Missense_Mutation_p.R1522M	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	1522					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TTCCTGGGACCTGCTGAGGAC	0.692												
EPPK1	83481	broad.mit.edu	37	8	144944997	144944997	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:144944997C>T	uc003zaa.1	-	1	2438	c.2425G>A	c.(2425-2427)GCC>ACC	p.A809T		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	809						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)			TGCTGGGTGGCACTGTCCACC	0.627												
PARP10	84875	broad.mit.edu	37	8	145057230	145057230	+	Missense_Mutation	SNP	G	G	A	rs141244035	by1000genomes	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:145057230G>A	uc003zal.3	-	9	2534	c.2426C>T	c.(2425-2427)GCG>GTG	p.A809V	PARP10_uc003zak.3_Missense_Mutation_p.A506V|PARP10_uc011lku.1_Missense_Mutation_p.A821V|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Missense_Mutation_p.A800V	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	809	PARP catalytic.|Myc binding.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGTCTGCCCCGCCACTGATGC	0.657												
CPSF1	29894	broad.mit.edu	37	8	145624413	145624413	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:145624413C>T	uc003zcj.2	-	16	1558	c.1483G>A	c.(1483-1485)GAG>AAG	p.E495K		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	495					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			AGGTCCGGCTCGGGGCTGTTC	0.483												
FOXD4	2298	broad.mit.edu	37	9	116989	116989	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:116989G>A	uc003zfz.2	-	1	1429	c.1131C>T	c.(1129-1131)TGC>TGT	p.C377C		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	forkhead box D4	377					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)		TGGTGGGAGCGCAGCCGTTGG	0.692												
CBWD1	55871	broad.mit.edu	37	9	121993	121993	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:121993T>C	uc003zga.3	-	14	1155	c.1049A>G	c.(1048-1050)GAC>GGC	p.D350G	CBWD1_uc010mgs.2_RNA|CBWD1_uc003zgb.3_Missense_Mutation_p.D314G|CBWD1_uc003zgc.3_Missense_Mutation_p.D331G	NM_018491	NP_060961	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1 isoform 1	350	CobW C-terminal.						ATP binding|protein binding			ovary(1)	1	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	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)		TCTCTCAGTGTCATCCTTCCA	0.418												
KCNV2	169522	broad.mit.edu	37	9	2718573	2718573	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:2718573G>A	uc003zho.1	+	1	1048	c.834G>A	c.(832-834)GCG>GCA	p.A278A		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	278	Helical; Name=Segment S2; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)		TGGCGCTGGCGCTCAACACCG	0.677												
JAK2	3717	broad.mit.edu	37	9	5054649	5054649	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:5054649G>A	uc010mhm.2	+	6	814	c.701G>A	c.(700-702)CGC>CAC	p.R234H	JAK2_uc003ziw.2_Missense_Mutation_p.R234H	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	234	Interaction with cytokine/interferon/growth hormone receptors (By similarity).|FERM.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TACAGATTTCGCAGATTTATT	0.368		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial			
GLDC	2731	broad.mit.edu	37	9	6553433	6553433	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:6553433C>A	uc003zkc.2	-	20	2585	c.2392G>T	c.(2392-2394)GGA>TGA	p.G798*		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	798					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CTGACGGTTCCCACAGGACAG	0.512												
KDM4C	23081	broad.mit.edu	37	9	7015923	7015923	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:7015923G>C	uc003zkh.2	+	15	2833	c.2253G>C	c.(2251-2253)TGG>TGC	p.W751C	KDM4C_uc010mhu.2_Missense_Mutation_p.W773C|KDM4C_uc011lmi.1_Missense_Mutation_p.W751C|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.W751C|KDM4C_uc011lmk.1_Missense_Mutation_p.W496C|KDM4C_uc011lml.1_Missense_Mutation_p.W438C	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	751					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1						GAAATGCGTGGACAGCAGTAA	0.408												
BNC2	54796	broad.mit.edu	37	9	16436812	16436812	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:16436812G>T	uc003zml.2	-	6	1520	c.1380C>A	c.(1378-1380)TAC>TAA	p.Y460*	BNC2_uc011lmw.1_Nonsense_Mutation_p.Y365*|BNC2_uc003zmm.2_Nonsense_Mutation_p.Y418*|BNC2_uc003zmq.1_Nonsense_Mutation_p.Y474*|BNC2_uc003zmr.1_Nonsense_Mutation_p.Y497*|BNC2_uc003zmp.1_Nonsense_Mutation_p.Y488*|BNC2_uc010mij.1_Nonsense_Mutation_p.Y382*|BNC2_uc011lmv.1_Nonsense_Mutation_p.Y286*|BNC2_uc003zmo.1_Nonsense_Mutation_p.Y382*|BNC2_uc003zmj.2_Nonsense_Mutation_p.Y225*|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Nonsense_Mutation_p.Y225*|BNC2_uc003zmn.1_Nonsense_Mutation_p.Y225*	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	460	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		GAACAGCATTGTAATGAATTT	0.453												
DENND4C	55667	broad.mit.edu	37	9	19316732	19316732	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:19316732C>T	uc003znq.2	+	8	1027	c.994C>T	c.(994-996)CGC>TGC	p.R332C	DENND4C_uc011lnc.1_5'UTR	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	332	dDENN.					integral to membrane				ovary(1)|skin(1)	2						GGCATTTTTGCGCTTTATGGC	0.413												
CDKN2A	1029	broad.mit.edu	37	9	21994370	21994370	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:21994370G>A	uc003zpl.2	-	1	121	c.84C>T	c.(82-84)GGC>GGT	p.G28G	MTAP_uc003zpi.1_Intron|CDKN2BAS_uc010miw.1_5'Flank|CDKN2BAS_uc010mix.1_5'Flank|CDKN2BAS_uc003zpm.2_5'Flank	NM_058195	NP_478102	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 4	Error:Variant_position_missing_in_P42771_after_alignment					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(197)|p.V28_E33del(2)|p.V28V(2)|p.V28_V51del(1)|p.V28fs*26(1)|p.V28G(1)|p.V28fs*15(1)|p.V28M(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGCCGCTGCGCCGCCCTTTG	0.726		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)		
NFX1	4799	broad.mit.edu	37	9	33351731	33351731	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:33351731G>A	uc003zsq.2	+	16	2659	c.2598G>A	c.(2596-2598)CCG>CCA	p.P866P	SUGT1P1_uc010mjq.1_Intron|NFX1_uc003zsp.1_Silent_p.P866P|NFX1_uc010mjr.1_Silent_p.P867P|NFX1_uc003zsr.2_Silent_p.P867P	NM_002504	NP_002495	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	866	NF-X1-type 8.				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GTGGTCACCCGTGTATGGCAC	0.552												
UNC13B	10497	broad.mit.edu	37	9	35313894	35313894	+	Splice_Site	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:35313894A>G	uc003zwq.2	+	10	1369	c.1077_splice	c.e10-2	p.S359_splice	UNC13B_uc010mkl.1_Splice_Site_p.S359_splice|UNC13B_uc003zwr.2_Splice_Site_p.S359_splice	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like						excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CTCTGTTACAAGTTTTCCTGA	0.433												
ALDH1B1	219	broad.mit.edu	37	9	38395863	38395863	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:38395863T>C	uc004aay.2	+	2	230	c.118T>C	c.(118-120)TTC>CTC	p.F40L		NM_000692	NP_000683	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1B1 precursor	40					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			skin(1)	1				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CAACCAGCTGTTCATCAACAA	0.607												
TRPM3	80036	broad.mit.edu	37	9	73213556	73213556	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:73213556G>A	uc004aid.2	-	20	3035	c.2791C>T	c.(2791-2793)CAG>TAG	p.Q931*	TRPM3_uc004ahu.2_Nonsense_Mutation_p.Q761*|TRPM3_uc004ahv.2_Nonsense_Mutation_p.Q733*|TRPM3_uc004ahw.2_Nonsense_Mutation_p.Q803*|TRPM3_uc004ahx.2_Nonsense_Mutation_p.Q790*|TRPM3_uc004ahy.2_Nonsense_Mutation_p.Q793*|TRPM3_uc004ahz.2_Nonsense_Mutation_p.Q780*|TRPM3_uc004aia.2_Nonsense_Mutation_p.Q778*|TRPM3_uc004aib.2_Nonsense_Mutation_p.Q768*|TRPM3_uc004aic.2_Nonsense_Mutation_p.Q931*	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	956	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						TTCACTTTCTGTAGCAACTTC	0.498												
ALDH1A1	216	broad.mit.edu	37	9	75543858	75543858	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:75543858C>T	uc004ajd.2	-	4	445	c.392G>A	c.(391-393)CGC>CAC	p.R131H	ALDH1A1_uc011lsh.1_Missense_Mutation_p.R52H	NM_000689	NP_000680	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1A1	131					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			ovary(3)|lung(1)	4					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TGCACAGTAGCGCAATGTTTT	0.428												
AGTPBP1	23287	broad.mit.edu	37	9	88193897	88193897	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:88193897C>A	uc011ltd.1	-	23	3313	c.3280G>T	c.(3280-3282)GGA>TGA	p.G1094*	AGTPBP1_uc004aod.3_Nonsense_Mutation_p.G720*|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Nonsense_Mutation_p.G1054*|AGTPBP1_uc011lte.1_Nonsense_Mutation_p.G1106*	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1094					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)|skin(1)	7						CTTTGTACTCCTATTTCCCTC	0.398												
GOLM1	51280	broad.mit.edu	37	9	88694210	88694210	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:88694210C>T	uc004aol.2	-	2	224	c.26G>A	c.(25-27)CGC>CAC	p.R9H	GOLM1_uc010mqd.1_RNA|GOLM1_uc004aom.2_Missense_Mutation_p.R9H	NM_016548	NP_057632	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	9	Cytoplasmic (Potential).					Golgi apparatus|integral to plasma membrane					0						CTTCATGCTGCGACGCCCGTT	0.527												
SUSD3	203328	broad.mit.edu	37	9	95840243	95840243	+	Silent	SNP	C	C	T	rs149186318	by1000genomes	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:95840243C>T	uc004atb.2	+	3	429	c.393C>T	c.(391-393)TGC>TGT	p.C131C	SUSD3_uc004atc.2_Silent_p.C118C	NM_145006	NP_659443	Q96L08	SUSD3_HUMAN	sushi domain containing 3	131	Cytoplasmic (Potential).					integral to membrane				breast(2)|skin(2)|ovary(1)|lung(1)	6						TCCTCAAGTGCGTGAAGAAGA	0.607												
FAM22G	441457	broad.mit.edu	37	9	99697697	99697697	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:99697697G>A	uc004awq.1	+	3	1516	c.801G>A	c.(799-801)ACG>ACA	p.T267T	HIATL2_uc004awr.1_Intron	NM_001045477	NP_001038942	Q5VZR2	FA22G_HUMAN	hypothetical protein LOC441457	267										skin(1)	1		Acute lymphoblastic leukemia(62;0.0527)				GGCAGCACACGAGCAACTTTG	0.627												
INVS	27130	broad.mit.edu	37	9	103008902	103008902	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:103008902C>T	uc004bap.1	+	8	1123	c.911C>T	c.(910-912)ACG>ATG	p.T304M	INVS_uc010mta.1_Missense_Mutation_p.T208M|INVS_uc011lve.1_Missense_Mutation_p.T208M|INVS_uc004bao.1_Missense_Mutation_p.T304M|INVS_uc004baq.1_Missense_Mutation_p.T208M|INVS_uc004bar.1_Missense_Mutation_p.T208M|INVS_uc010mtb.1_Translation_Start_Site	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	304	ANK 9.				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)				TTACAGGAAACGGTTAAAGTG	0.343												
MURC	347273	broad.mit.edu	37	9	103340555	103340555	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:103340555G>A	uc004bba.2	+	1	220	c.130G>A	c.(130-132)GTG>ATG	p.V44M		NM_001018116	NP_001018126	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	44	Potential.				cell differentiation|muscle organ development|transcription, DNA-dependent					ovary(1)	1		Acute lymphoblastic leukemia(62;0.0461)				AGCCTCCATCGTGGACAGTGT	0.463												
RNF20	56254	broad.mit.edu	37	9	104324640	104324640	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:104324640G>A	uc004bbn.2	+	20	2954	c.2864G>A	c.(2863-2865)CGC>CAC	p.R955H		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	ring finger protein 20	955	RING-type.				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)		ACCCGCCAGCGCAAATGTCCC	0.448												
GRIN3A	116443	broad.mit.edu	37	9	104449155	104449155	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:104449155T>C	uc004bbp.1	-	2	1628	c.1027A>G	c.(1027-1029)ACC>GCC	p.T343A	GRIN3A_uc004bbq.1_Missense_Mutation_p.T343A	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	343	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CCAAACTGGGTTGTAATTTCG	0.517												
CDC26	246184	broad.mit.edu	37	9	116029676	116029676	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:116029676C>A	uc004bgw.2	-	4	484	c.125G>T	c.(124-126)AGT>ATT	p.S42I	FKBP15_uc010muu.1_Intron	NM_139286	NP_644815	Q8NHZ8	CDC26_HUMAN	CDC26 subunit of anaphase promoting complex	42					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm					0						TTCTCCATCACTGCCTCCTAC	0.388												
TLR4	7099	broad.mit.edu	37	9	120474910	120474910	+	Silent	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:120474910T>C	uc004bjz.2	+	3	795	c.504T>C	c.(502-504)CCT>CCC	p.P168P	TLR4_uc004bka.2_Silent_p.P128P|TLR4_uc004bkb.2_5'UTR	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	168	Extracellular (Potential).|LRR 5.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						TCAAATTACCTGAGTATTTTT	0.373												
CDK5RAP2	55755	broad.mit.edu	37	9	123220813	123220813	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:123220813C>T	uc004bkf.2	-	20	2471	c.2290G>A	c.(2290-2292)GCA>ACA	p.A764T	CDK5RAP2_uc004bke.2_Missense_Mutation_p.A49T|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.A764T|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.A29T|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.A29T|CDK5RAP2_uc011lya.1_Missense_Mutation_p.A29T|CDK5RAP2_uc004bkh.1_Intron|CDK5RAP2_uc004bki.2_Missense_Mutation_p.A531T	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	764					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						CAGCCAGGTGCGTGGGCCCCA	0.458												
FBXW2	26190	broad.mit.edu	37	9	123526872	123526872	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:123526872T>C	uc004bkl.1	-	8	1491	c.1330A>G	c.(1330-1332)AGT>GGT	p.S444G	FBXW2_uc011lyc.1_Missense_Mutation_p.S315G|FBXW2_uc004bkn.2_Missense_Mutation_p.S476G|FBXW2_uc004bkm.1_Missense_Mutation_p.S444G|FBXW2_uc010mvj.1_Missense_Mutation_p.S379G	NM_012164	NP_036296	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	444					proteolysis		protein binding|ubiquitin-protein ligase activity			urinary_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						AGGTGAATACTGTGGTCAGGC	0.592												
C5	727	broad.mit.edu	37	9	123723809	123723809	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:123723809A>G	uc004bkv.2	-	37	4569	c.4539T>C	c.(4537-4539)AAT>AAC	p.N1513N		NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	1513					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	GAATTTTGATATTGGAAGTGC	0.363												
ZBTB26	57684	broad.mit.edu	37	9	125681387	125681387	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:125681387G>A	uc004bnj.2	-	2	1039	c.827C>T	c.(826-828)CCA>CTA	p.P276L	ZBTB26_uc004bnk.2_Missense_Mutation_p.P276L	NM_020924	NP_065975	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	276	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGTACACTTTGGGCACTGGTG	0.453												
SCAI	286205	broad.mit.edu	37	9	127733710	127733710	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:127733710C>T	uc004bpe.2	-	17	1694	c.1613G>A	c.(1612-1614)CGC>CAC	p.R538H	SCAI_uc004bpd.2_Missense_Mutation_p.R561H|SCAI_uc010mwu.2_RNA	NM_001144877	NP_001138349	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion isoform 2	538					negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			ovary(2)|breast(2)|central_nervous_system(1)	5						GAGGAGCAAGCGAAGAAATTC	0.358												
TTC16	158248	broad.mit.edu	37	9	130486410	130486410	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:130486410A>G	uc004brq.1	+	8	951	c.884A>G	c.(883-885)TAC>TGC	p.Y295C	PTRH1_uc011mah.1_Intron|TTC16_uc011mai.1_Missense_Mutation_p.Y282C|TTC16_uc004brr.1_Missense_Mutation_p.Y240C|TTC16_uc010mxn.1_5'UTR	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	295	TPR 5.						binding				0						GGCACCATGTACCGACGGCTC	0.672												
PTGES2	80142	broad.mit.edu	37	9	130884666	130884666	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:130884666C>T	uc004bti.2	-	6	1458	c.980G>A	c.(979-981)GGC>GAC	p.G327D	PTGES2_uc004btj.2_RNA|PTGES2_uc004btk.2_Missense_Mutation_p.G136D|PTGES2_uc004btl.2_Missense_Mutation_p.G136D|PTGES2_uc004btm.2_RNA	NM_025072	NP_079348	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	327	GST C-terminal.|Cytoplasmic (Potential).				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity				0						CGGCTTCTGGCCCCCCATGAA	0.637												
GOLGA2	2801	broad.mit.edu	37	9	131022375	131022375	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:131022375G>A	uc011maw.1	-	18	1784	c.1771C>T	c.(1771-1773)CTG>TTG	p.L591L	GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004buh.2_Silent_p.L64L	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	591	Potential.					Golgi cisterna membrane	protein binding			ovary(1)	1						AGCTCGCTCAGCTTCTCCTGC	0.622												
ZER1	10444	broad.mit.edu	37	9	131495728	131495728	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:131495728C>T	uc004bwa.1	-	15	2653	c.2220G>A	c.(2218-2220)CGG>CGA	p.R740R		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	zyg-11 homolog B (C. elegans)-like	740	ARM 5.				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			ovary(1)	1						TGGTCTCCTGCCGTGCGGTCG	0.572											OREG0019523	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FAM73B	84895	broad.mit.edu	37	9	131832626	131832626	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:131832626G>A	uc004bxa.2	+	16	1862	c.1676G>A	c.(1675-1677)CGC>CAC	p.R559H	FAM73B_uc004bwy.2_RNA|FAM73B_uc004bwz.2_RNA|FAM73B_uc004bxb.2_Missense_Mutation_p.R135H	NM_032809	NP_116198	Q7L4E1	FA73B_HUMAN	hypothetical protein LOC84895	559						integral to membrane				skin(1)	1						CTGTCCCGGCGCCGCAGCGAG	0.667												
PPP2R4	5524	broad.mit.edu	37	9	131898802	131898802	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:131898802G>A	uc004bxm.1	+	8	985	c.718G>A	c.(718-720)GGC>AGC	p.G240S	PPP2R4_uc004bxl.1_Missense_Mutation_p.G205S|PPP2R4_uc011mbo.1_Missense_Mutation_p.G240S|PPP2R4_uc010myr.1_Intron|PPP2R4_uc004bxn.1_Missense_Mutation_p.G205S|PPP2R4_uc004bxo.1_Missense_Mutation_p.G163S|PPP2R4_uc011mbp.1_Missense_Mutation_p.G176S|PPP2R4_uc011mbq.1_Missense_Mutation_p.G163S|PPP2R4_uc010mys.1_Missense_Mutation_p.G170S|PPP2R4_uc011mbr.1_5'Flank	NM_178001	NP_821068	Q15257	PTPA_HUMAN	protein phosphatase 2A, regulatory subunit B'	240	ATP.			G->D: Impairs ATPase activity of the PP2A(D):PPP2R4 complex; no effect on interaction with the PP2A(D) complex.	ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			ovary(1)|lung(1)|pancreas(1)	3		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		GGAGCCAGCCGGCAGCCAGGG	0.537												
RAPGEF1	2889	broad.mit.edu	37	9	134455650	134455650	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:134455650G>A	uc004cbc.2	-	23	3213	c.3083C>T	c.(3082-3084)GCG>GTG	p.A1028V	RAPGEF1_uc004cbb.2_Missense_Mutation_p.A1046V	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	1028	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)		TGGCACTCACGCCTGCTGGAA	0.642												
SETX	23064	broad.mit.edu	37	9	135176111	135176111	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:135176111T>C	uc004cbk.2	-	12	5637	c.5454A>G	c.(5452-5454)ATA>ATG	p.I1818M	SETX_uc004cbj.2_Missense_Mutation_p.I1437M|SETX_uc010mzt.2_Missense_Mutation_p.I1437M	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	1818					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)		TCTCTTCATTTATTCTCTCAG	0.368												
RALGDS	5900	broad.mit.edu	37	9	135978272	135978272	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:135978272C>T	uc004cco.2	-	13	1827	c.1807G>A	c.(1807-1809)GCC>ACC	p.A603T	RALGDS_uc004ccn.2_5'Flank|RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Missense_Mutation_p.A591T|RALGDS_uc004ccr.2_Missense_Mutation_p.A602T|RALGDS_uc011mcv.1_Missense_Mutation_p.A574T|RALGDS_uc004ccs.2_Missense_Mutation_p.A548T|RALGDS_uc011mcw.1_Missense_Mutation_p.A674T|RALGDS_uc004ccv.1_Missense_Mutation_p.A372T|RALGDS_uc004ccu.1_Missense_Mutation_p.A372T	NM_006266	NP_006257	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	603	Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TTGATCTGGGCGATCACCTCG	0.647			T	CIITA	PMBL|Hodgkin Lymphona|						OREG0019581	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ADAMTS13	11093	broad.mit.edu	37	9	136319630	136319630	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:136319630G>T	uc004cdv.3	+	24	3582	c.3138G>T	c.(3136-3138)CAG>CAT	p.Q1046H	ADAMTS13_uc004cdp.3_Missense_Mutation_p.Q273H|ADAMTS13_uc004cdt.1_Missense_Mutation_p.Q1046H|ADAMTS13_uc004cdu.1_Missense_Mutation_p.Q1015H|ADAMTS13_uc004cdw.3_Missense_Mutation_p.Q1046H|ADAMTS13_uc004cdx.3_Missense_Mutation_p.Q1015H|ADAMTS13_uc004cdz.3_Missense_Mutation_p.Q716H|ADAMTS13_uc004cea.1_5'Flank|ADAMTS13_uc004ceb.3_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1046	TSP type-1 7.				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)		ACCAAGGCCAGGACGTGGAGG	0.662												
LCN9	392399	broad.mit.edu	37	9	138557130	138557130	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:138557130A>G	uc004cgk.1	+	4	347	c.347A>G	c.(346-348)TAC>TGC	p.Y116C		NM_001001676	NP_001001676	Q8WX39	LCN9_HUMAN	lipocalin 9	116						extracellular region	pheromone binding|transporter activity			large_intestine(2)	2		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		GAGACTGACTACAGGCTGTTC	0.632												
KCNT1	57582	broad.mit.edu	37	9	138667192	138667192	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:138667192C>T	uc011mdq.1	+	20	2354	c.2280C>T	c.(2278-2280)ATC>ATT	p.I760I	KCNT1_uc011mdr.1_Silent_p.I587I|KCNT1_uc010nbf.2_Silent_p.I715I|KCNT1_uc004cgo.1_Silent_p.I509I	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	760						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CGCCCTACATCGGCAGCTCCC	0.662												
CAMSAP1	157922	broad.mit.edu	37	9	138742178	138742178	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:138742178A>G	uc004cgr.3	-	6	938	c.938T>C	c.(937-939)TTA>TCA	p.L313S	CAMSAP1_uc004cgq.3_Missense_Mutation_p.L203S|CAMSAP1_uc010nbg.2_Missense_Mutation_p.L35S	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	313	CH.					cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CTTCAACACTAATGGCGCATA	0.338												
C9orf69	90120	broad.mit.edu	37	9	139008560	139008560	+	Silent	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:139008560T>C	uc004cgx.3	-	2	712	c.261A>G	c.(259-261)GCA>GCG	p.A87A	C9orf69_uc004cgy.2_RNA	NM_152833	NP_690046			hypothetical protein LOC90120												0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		GTGAACAGGCTGCAGCTAAAG	0.622												
SEC16A	9919	broad.mit.edu	37	9	139358175	139358175	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:139358175C>T	uc004chx.2	-	10	4773	c.4464G>A	c.(4462-4464)ACG>ACA	p.T1488T	SEC16A_uc004chv.3_Silent_p.T878T|SEC16A_uc004chw.2_Silent_p.T1488T|SEC16A_uc010nbn.2_Silent_p.T1488T	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	1310					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCTGCTCAGACGTGTGCTGCA	0.642												
KIAA1984	84960	broad.mit.edu	37	9	139694927	139694927	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:139694927G>A	uc004cjf.2	+	5	573	c.525G>A	c.(523-525)CTG>CTA	p.L175L		NM_001039374	NP_001034463	Q5T5S1	K1984_HUMAN	hypothetical protein LOC84960	175	Potential.									ovary(1)	1	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		ATTTGGACCTGCTGGATTATC	0.627												
ABCA2	20	broad.mit.edu	37	9	139905558	139905558	+	Splice_Site	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:139905558C>A	uc011mem.1	-	38	6069	c.5921_splice	c.e38-1	p.G1974_splice	ABCA2_uc011mel.1_Splice_Site_p.G1975_splice|ABCA2_uc004ckl.1_Splice_Site_p.G1905_splice|ABCA2_uc004ckm.1_Splice_Site_p.G2005_splice	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2						cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCAAACTGGCCTGCGGGGAGA	0.662												
CACNA1B	774	broad.mit.edu	37	9	140880954	140880954	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:140880954T>C	uc004cog.2	+	14	2004	c.1859T>C	c.(1858-1860)ATT>ACT	p.I620T	CACNA1B_uc011mfd.1_Missense_Mutation_p.I151T	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	620	Helical; Name=S5 of repeat II; (Potential).|II.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TTCCTGTTCATTGTGGTCTTC	0.607												
CACNA1B	774	broad.mit.edu	37	9	140968005	140968005	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:140968005C>T	uc004cog.2	+	32	4885	c.4740C>T	c.(4738-4740)CGC>CGT	p.R1580R	CACNA1B_uc004coi.2_Silent_p.R792R|CACNA1B_uc004cok.1_5'Flank|CACNA1B_uc010ncp.1_5'Flank	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	1580	Helical; Name=S4 of repeat IV; (Potential).|IV.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AGCTGCTCCGCCAGGGCTACA	0.572												
PPP2R3B	28227	broad.mit.edu	37	X	299579	299579	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:299579G>A	uc004cpg.2	-	11	1605	c.1404C>T	c.(1402-1404)TTC>TTT	p.F468F	PPP2R3B_uc004cpf.2_Silent_p.F69F	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	468					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)				AGAAGGTGTCGAAGAAGACGT	0.507												
ARSF	416	broad.mit.edu	37	X	3021856	3021856	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:3021856C>T	uc004cre.1	+	9	1377	c.1156C>T	c.(1156-1158)CGA>TGA	p.R386*	ARSF_uc004crf.1_Nonsense_Mutation_p.R386*	NM_004042	NP_004033	P54793	ARSF_HUMAN	arylsulfatase F precursor	386						extracellular region	arylsulfatase activity|metal ion binding			ovary(2)	2		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)				AGGAATTGTCCGATGGCCTGG	0.458												
MXRA5	25878	broad.mit.edu	37	X	3229209	3229209	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:3229209G>A	uc004crg.3	-	7	7192	c.7035C>T	c.(7033-7035)CCC>CCT	p.P2345P		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2345	Ig-like C2-type 8.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGATGGTGGCGGGCGCTGTCA	0.562												
PRKX	5613	broad.mit.edu	37	X	3592808	3592808	+	Splice_Site	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:3592808C>A	uc010nde.2	-	2	534	c.167_splice	c.e2-1	p.G56_splice		NM_005044	NP_005035	P51817	PRKX_HUMAN	protein kinase, X-linked								ATP binding|cAMP-dependent protein kinase activity			skin(2)|lung(1)	3		all_lung(23;0.000396)|Lung NSC(23;0.00123)				GTCCCAGTGCCTGGAGAGAGA	0.557												
FAM9A	171482	broad.mit.edu	37	X	8767015	8767015	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:8767015T>C	uc004csg.2	-	3	323	c.212A>G	c.(211-213)AAG>AGG	p.K71R		NM_174951	NP_777611	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	71						nucleolus					0		Hepatocellular(5;0.219)				ACCTGTGTGCTTCTTCGCCGG	0.622												
CTPS2	56474	broad.mit.edu	37	X	16685651	16685651	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:16685651C>T	uc004cxk.2	-	13	2026	c.1282G>A	c.(1282-1284)GCC>ACC	p.A428T	CTPS2_uc004cxl.2_Missense_Mutation_p.A428T|CTPS2_uc004cxm.2_Missense_Mutation_p.A428T	NM_001144002	NP_001137474	Q9NRF8	PYRG2_HUMAN	cytidine triphosphate synthase II	428	Glutamine amidotransferase type-1.				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			ovary(1)	1	Hepatocellular(33;0.0997)					GGAACTGGGGCATTTGGCCTA	0.383												
CDKL5	6792	broad.mit.edu	37	X	18525131	18525131	+	Translation_Start_Site	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:18525131C>T	uc004cym.2	+	2	168	c.-85C>T	c.(-87--83)GACGG>GATGG		CDKL5_uc004cyn.2_Translation_Start_Site	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5						neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					TTCCTTCAGACGGTTTTGGAT	0.368												
MAP3K15	389840	broad.mit.edu	37	X	19416470	19416470	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:19416470T>C	uc004czk.1	-	16	2002	c.365A>G	c.(364-366)TAT>TGT	p.Y122C	MAP3K15_uc004czj.1_Missense_Mutation_p.Y82C	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase	647							ATP binding|MAP kinase kinase kinase activity|metal ion binding			ovary(3)|lung(2)|stomach(1)|skin(1)	7	Hepatocellular(33;0.183)					ATCATGGTCATACTCATACTG	0.443												
EIF1AX	1964	broad.mit.edu	37	X	20153899	20153899	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:20153899C>T	uc004czt.2	-	3	369	c.161G>A	c.(160-162)GGT>GAT	p.G54D		NM_001412	NP_001403	P47813	IF1AX_HUMAN	X-linked eukaryotic translation initiation	54	S1-like.					cytosol	translation initiation factor activity			ovary(1)	1						CCTCTTTACACCATCGAAACA	0.373												
DCAF8L1	139425	broad.mit.edu	37	X	27998141	27998141	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:27998141A>G	uc004dbx.1	-	1	1426	c.1311T>C	c.(1309-1311)AAT>AAC	p.N437N		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	437	WD 6.									ovary(3)|skin(1)	4						TGATTGTGTCATTATTTCTGT	0.448												
DCAF8L1	139425	broad.mit.edu	37	X	27998625	27998625	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:27998625C>T	uc004dbx.1	-	1	942	c.827G>A	c.(826-828)TGC>TAC	p.C276Y		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	276	WD 2.									ovary(3)|skin(1)	4						AGTATTCTCGCAATATGATGC	0.502												
DCAF8L1	139425	broad.mit.edu	37	X	27998761	27998761	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:27998761C>T	uc004dbx.1	-	1	806	c.691G>A	c.(691-693)GTA>ATA	p.V231I		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	231	WD 1.									ovary(3)|skin(1)	4						AAGTTCAGTACTGGCTTCTGC	0.502												
USP9X	8239	broad.mit.edu	37	X	41012336	41012336	+	Splice_Site	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:41012336T>C	uc004dfb.2	+	14	2530	c.1897_splice	c.e14+2	p.D633_splice	USP9X_uc004dfc.2_Splice_Site_p.D633_splice	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						ATGCTAGAGGTATGTATTGTA	0.328												
UBA1	7317	broad.mit.edu	37	X	47058955	47058955	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:47058955A>C	uc004dhj.3	+	5	573	c.422A>C	c.(421-423)TAT>TCT	p.Y141S	UBA1_uc004dhk.3_Missense_Mutation_p.Y141S	NM_153280	NP_695012	P22314	UBA1_HUMAN	ubiquitin-activating enzyme E1	141	1-1.|2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			ovary(1)	1						CTCAACAGCTATGTGCCTGTC	0.557												
SSX5	6758	broad.mit.edu	37	X	48054732	48054732	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:48054732C>T	uc004dja.1	-	2	116	c.63G>A	c.(61-63)ATG>ATA	p.M21I	SSX5_uc004diz.1_Missense_Mutation_p.M21I	NM_175723	NP_783729	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5 isoform b	21	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding				0						TCACCTTTTGCATCTTCTCTG	0.542												
CCNB3	85417	broad.mit.edu	37	X	50053728	50053728	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:50053728A>G	uc004dox.3	+	6	2857	c.2559A>G	c.(2557-2559)GAA>GAG	p.E853E	CCNB3_uc004doy.2_Silent_p.E853E|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	853					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					TTGACACAGAAGCTCACTTTA	0.532												
SMC1A	8243	broad.mit.edu	37	X	53426512	53426512	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:53426512T>C	uc004dsg.2	-	16	2630	c.2561A>G	c.(2560-2562)AAG>AGG	p.K854R	SMC1A_uc011moe.1_Missense_Mutation_p.K832R	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	854	Potential.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			ovary(5)|central_nervous_system(1)	6						CTTCCTTACCTTTTTGAGCTT	0.323												
HUWE1	10075	broad.mit.edu	37	X	53586422	53586422	+	Missense_Mutation	SNP	C	C	T	rs146149373		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:53586422C>T	uc004dsp.2	-	57	8210	c.7808G>A	c.(7807-7809)CGG>CAG	p.R2603Q	HUWE1_uc004dsn.2_Missense_Mutation_p.R1427Q|uc004dss.2_5'Flank|MIRLET7F2_hsa-let-7f-2|MI0000068_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2603					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						GAGGCGGGCCCGACCCCGGCT	0.567												
HUWE1	10075	broad.mit.edu	37	X	53590731	53590731	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:53590731C>T	uc004dsp.2	-	52	7483	c.7081G>A	c.(7081-7083)GGA>AGA	p.G2361R	HUWE1_uc004dsn.2_Missense_Mutation_p.G1185R	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2361	Glu-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						TTCCCAGATCCGCCATCCCTC	0.453												
GNL3L	54552	broad.mit.edu	37	X	54578085	54578085	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:54578085C>T	uc004dth.1	+	11	1087	c.948C>T	c.(946-948)GGC>GGT	p.G316G	GNL3L_uc004dti.2_RNA	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3	316	G.				ribosome biogenesis	nucleolus	GTP binding			ovary(1)	1						CAGAGGTGGGCACCATCCTGC	0.612												
GNL3L	54552	broad.mit.edu	37	X	54578110	54578110	+	Missense_Mutation	SNP	G	G	A	rs148611493		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:54578110G>A	uc004dth.1	+	11	1112	c.973G>A	c.(973-975)GTG>ATG	p.V325M	GNL3L_uc004dti.2_RNA	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3	325					ribosome biogenesis	nucleolus	GTP binding			ovary(1)	1						CTGCGTCCACGTGCAGAAGCT	0.627												
TRO	7216	broad.mit.edu	37	X	54955519	54955519	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:54955519A>G	uc004dtq.2	+	12	2469	c.2362A>G	c.(2362-2364)AGC>GGC	p.S788G	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.S319G|TRO_uc004dtw.2_Missense_Mutation_p.S391G|TRO_uc004dtx.2_Missense_Mutation_p.S171G	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	788	4.|62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						CTCCAGCTTCAGCAGCGCAGC	0.532												
TRO	7216	broad.mit.edu	37	X	54955602	54955602	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:54955602C>T	uc004dtq.2	+	12	2552	c.2445C>T	c.(2443-2445)GGC>GGT	p.G815G	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Silent_p.G346G|TRO_uc004dtw.2_Silent_p.G418G|TRO_uc004dtx.2_Silent_p.G198G	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	815	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						GCTTTGGTGGCATGCCTTGTA	0.547												
LAS1L	81887	broad.mit.edu	37	X	64734815	64734815	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:64734815G>A	uc004dwa.1	-	13	2038	c.1966C>T	c.(1966-1968)CCA>TCA	p.P656S	LAS1L_uc004dwc.1_Missense_Mutation_p.P639S|LAS1L_uc004dwd.1_Missense_Mutation_p.P597S|LAS1L_uc004dvy.1_Missense_Mutation_p.P169S|LAS1L_uc004dvz.1_Missense_Mutation_p.P169S	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	LAS1-like	656						MLL1 complex|nucleolus	protein binding			ovary(3)|large_intestine(1)	4						GTCTGACCTGGCATTCGGCCT	0.562												
AR	367	broad.mit.edu	37	X	66937333	66937333	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:66937333A>G	uc004dwu.1	+	5	3302	c.2187A>G	c.(2185-2187)TTA>TTG	p.L729L	AR_uc004dwv.1_Silent_p.L197L	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	728	Ligand-binding.|Interaction with MYST2.		L -> S (in PAIS).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.L729I(1)		ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TCCGCAACTTACACGTGGACG	0.557									Androgen_Insensitivity_Syndrome			
PJA1	64219	broad.mit.edu	37	X	68381384	68381384	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:68381384A>T	uc004dxh.2	-	2	1984	c.1698T>A	c.(1696-1698)AAT>AAA	p.N566K	PJA1_uc011mpi.1_Missense_Mutation_p.N284K|PJA1_uc004dxg.2_Missense_Mutation_p.N378K|PJA1_uc004dxi.2_Missense_Mutation_p.N511K	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN	praja 1 isoform a	566							zinc ion binding				0						TTGCTGGTGGATTGGCCACCT	0.557												
FAM155B	27112	broad.mit.edu	37	X	68749653	68749653	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:68749653C>T	uc004dxk.2	+	3	1321	c.1273C>T	c.(1273-1275)CGC>TGC	p.R425C		NM_015686	NP_056501	O75949	F155B_HUMAN	transmembrane protein 28	426						integral to membrane				ovary(1)|breast(1)	2						TGGGGGCTCCCGCCTCAGCCC	0.517												
IGBP1	3476	broad.mit.edu	37	X	69385717	69385717	+	Silent	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:69385717A>G	uc004dxv.2	+	6	1405	c.906A>G	c.(904-906)GAA>GAG	p.E302E	IGBP1_uc004dxw.2_Silent_p.E302E	NM_001551	NP_001542	P78318	IGBP1_HUMAN	immunoglobulin binding protein 1	302					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(1)|pancreas(1)	2						AACAGGAAGAACAAGAAGAAA	0.473												
ARR3	407	broad.mit.edu	37	X	69496058	69496058	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:69496058A>G	uc004dyb.2	+	6	340	c.272A>G	c.(271-273)CAG>CGG	p.Q91R	ARR3_uc004dya.2_Missense_Mutation_p.Q91R	NM_004312	NP_004303	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	91					signal transduction|visual perception	cytoplasm|soluble fraction				large_intestine(2)|ovary(2)	4						AGCAGCCCTCAGGGGCCCCTC	0.577												
DLG3	1741	broad.mit.edu	37	X	69712027	69712027	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:69712027G>T	uc004dyi.1	+	11	1919	c.1591G>T	c.(1591-1593)GAC>TAC	p.D531Y	DLG3_uc004dyj.1_Missense_Mutation_p.D194Y|DLG3_uc011mpn.1_Missense_Mutation_p.D47Y	NM_021120	NP_066943	Q92796	DLG3_HUMAN	synapse-associated protein 102 isoform a	531	SH3.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			large_intestine(1)|pancreas(1)	2	Renal(35;0.156)					CTCTTATGGTGACATTCTGCA	0.527												
NLGN3	54413	broad.mit.edu	37	X	70367840	70367840	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:70367840G>A	uc004dzd.1	+	1	441	c.241G>A	c.(241-243)GAG>AAG	p.E81K	NLGN3_uc010nlb.1_Missense_Mutation_p.E81K|NLGN3_uc004dzb.2_Missense_Mutation_p.E81K|NLGN3_uc004dzc.2_Intron|NLGN3_uc011mps.1_Missense_Mutation_p.E81K|NLGN3_uc011mpr.1_Missense_Mutation_p.E81K	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	81	Extracellular (Potential).				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			ovary(1)	1	Renal(35;0.156)					CCCGATCGGCGAGAAACGTTT	0.632												
PHKA1	5255	broad.mit.edu	37	X	71813009	71813009	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:71813009G>A	uc004eax.3	-	29	3489	c.3188C>T	c.(3187-3189)GCA>GTA	p.A1063V	PHKA1_uc004eay.3_Missense_Mutation_p.A1050V|PHKA1_uc011mqi.1_Missense_Mutation_p.A991V|PHKA1_uc010nll.2_Missense_Mutation_p.A95V	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	1063	Calmodulin-binding (Potential).				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					TCTATTCAGTGCCCCATCCAG	0.423												
ATRX	546	broad.mit.edu	37	X	76937945	76937945	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:76937945C>T	uc004ecp.3	-	9	3035	c.2803G>A	c.(2803-2805)GAA>AAA	p.E935K	ATRX_uc004ecq.3_Missense_Mutation_p.E897K|ATRX_uc004eco.3_Missense_Mutation_p.E720K|ATRX_uc004ecr.2_Missense_Mutation_p.E867K|ATRX_uc010nlx.1_Missense_Mutation_p.E906K|ATRX_uc010nly.1_Missense_Mutation_p.E880K	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	935					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	TTTCTAACTTCCAAAGAAGTA	0.378			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome					
LPAR4	2846	broad.mit.edu	37	X	78010323	78010323	+	Translation_Start_Site	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:78010323G>A	uc010nme.2	+	2	362	c.-43G>A	c.(-45--41)GAGTG>GAATG			NM_005296	NP_005287	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4							integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			ovary(3)	3						TAGTGTCAGAGTGGTGAACCC	0.418												
RPA4	29935	broad.mit.edu	37	X	96139888	96139888	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:96139888C>T	uc004efv.3	+	1	877	c.579C>T	c.(577-579)AAC>AAT	p.N193N	DIAPH2_uc004eft.3_Intron|DIAPH2_uc004efu.3_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	replication protein A4, 34kDa	193					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding				0						CTGGGGATAACGATGAGAGTC	0.502								Other_identified_genes_with_known_or_suspected_DNA_repair_function				
SRPX2	27286	broad.mit.edu	37	X	99924335	99924335	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:99924335C>T	uc004egb.2	+	10	1666	c.1186C>T	c.(1186-1188)CAG>TAG	p.Q396*		NM_014467	NP_055282	O60687	SRPX2_HUMAN	sushi-repeat-containing protein, X-linked 2	396					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			ovary(2)	2						CCGGGAGCAACAGCTGTCAGC	0.637												
BTK	695	broad.mit.edu	37	X	100609618	100609618	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:100609618C>A	uc004ehg.2	-	16	1824	c.1631G>T	c.(1630-1632)AGG>ATG	p.R544M	BTK_uc004ehf.2_Missense_Mutation_p.R44M|BTK_uc010nnh.2_Intron|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_RNA|BTK_uc010nnj.2_Intron|BTK_uc010nnk.2_Intron|BTK_uc010nnl.2_Intron|BTK_uc010nnm.2_Missense_Mutation_p.R114M|BTK_uc010nnn.2_Missense_Mutation_p.R368M|BTK_uc010nno.2_Missense_Mutation_p.R578M|BTK_uc004ehh.1_RNA	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	544	Protein kinase.		R -> K (in XLA).|R -> G (in XLA).		calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			lung(3)|central_nervous_system(2)|ovary(1)	6						CCACACTCACCTGGACAGGCC	0.423									Agammaglobulinemia_X-linked			
BHLHB9	80823	broad.mit.edu	37	X	102005017	102005017	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:102005017G>A	uc010nog.2	+	4	1665	c.1094G>A	c.(1093-1095)GGT>GAT	p.G365D	BHLHB9_uc011mrq.1_Missense_Mutation_p.G365D|BHLHB9_uc011mrr.1_Missense_Mutation_p.G365D|BHLHB9_uc011mrs.1_Missense_Mutation_p.G365D|BHLHB9_uc011mrt.1_Missense_Mutation_p.G365D|BHLHB9_uc004ejo.2_Missense_Mutation_p.G365D|BHLHB9_uc011mru.1_Missense_Mutation_p.G365D|BHLHB9_uc011mrv.1_Missense_Mutation_p.G365D	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class	365						cytoplasm|nucleus	binding			ovary(2)	2						AACGAAGTAGGTGTAGTGACA	0.388												
GLRA4	441509	broad.mit.edu	37	X	102979004	102979004	+	Splice_Site	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:102979004A>G	uc011mse.1	-	4	915	c.494_splice	c.e4+1	p.R165_splice	GLRA4_uc010nou.2_Splice_Site_p.R165_splice	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4 precursor							cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity				0						CACCCGGTGCACCTGATGCTG	0.527												
ESX1	80712	broad.mit.edu	37	X	103495262	103495262	+	Missense_Mutation	SNP	G	G	A	rs148783552	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:103495262G>A	uc004ely.2	-	4	926	c.868C>T	c.(868-870)CGC>TGC	p.R290C		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	extraembryonic, spermatogenesis, homeobox	290	6.|15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GGCGCCATGCGTGGCCCGGGT	0.572												
LHFPL1	340596	broad.mit.edu	37	X	111914251	111914251	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:111914251G>A	uc004epq.2	-	2	701	c.368C>T	c.(367-369)GCG>GTG	p.A123V	LHFPL1_uc004epp.2_Missense_Mutation_p.A146V|LHFPL1_uc010nqa.2_Intron|LHFPL1_uc010nqb.2_Missense_Mutation_p.A123V	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1 precursor	123	Helical; (Potential).					integral to membrane					0						AACAAACTGCGCTGCTCCCAT	0.577												
AMOT	154796	broad.mit.edu	37	X	112058802	112058802	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:112058802T>G	uc004epr.2	-	2	1176	c.1176A>C	c.(1174-1176)CAA>CAC	p.Q392H	AMOT_uc004eps.2_5'UTR|AMOT_uc004ept.1_Missense_Mutation_p.Q392H	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	392					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						gctgctgttgttggtggtgat	0.338												
SLC6A14	11254	broad.mit.edu	37	X	115582757	115582757	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:115582757G>A	uc004eqi.2	+	8	1185	c.1081G>A	c.(1081-1083)GCT>ACT	p.A361T		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid	361	Helical; Name=7; (Potential).				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)|pancreas(1)	3					L-Proline(DB00172)	TAGCGTGTTTGCTGGATTTGC	0.358												
WDR44	54521	broad.mit.edu	37	X	117529236	117529236	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:117529236C>T	uc004eqn.2	+	6	1407	c.982C>T	c.(982-984)CAG>TAG	p.Q328*	WDR44_uc004eqo.2_Nonsense_Mutation_p.Q328*|WDR44_uc011mtr.1_Nonsense_Mutation_p.Q303*|WDR44_uc010nqi.2_Nonsense_Mutation_p.Q38*	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	328						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						ACCTGATGGGCAGACTGTAGC	0.348												
ZBTB33	10009	broad.mit.edu	37	X	119387551	119387551	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:119387551G>C	uc004esn.1	+	2	509	c.281G>C	c.(280-282)AGA>ACA	p.R94T	ZBTB33_uc010nqm.1_Missense_Mutation_p.R94T	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	kaiso	94	BTB.|Self-association (By similarity).|Interaction with NCOR1.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						GTTCGTGTTAGATCAGATTTG	0.358												
ODZ1	10178	broad.mit.edu	37	X	123785941	123785941	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:123785941G>T	uc004euj.2	-	8	1466	c.1402C>A	c.(1402-1404)CTG>ATG	p.L468M	ODZ1_uc011muj.1_Missense_Mutation_p.L467M|ODZ1_uc010nqy.2_Missense_Mutation_p.L468M	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	468	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TGCTTGACCAGCTGTTTGCCA	0.418												
DCAF12L2	340578	broad.mit.edu	37	X	125298898	125298898	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:125298898C>T	uc004euk.1	-	1	1037	c.1010G>A	c.(1009-1011)CGC>CAC	p.R337H		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	337										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						GTTCTGCTGGCGCTGGCGCGG	0.622												
IGSF1	3547	broad.mit.edu	37	X	130419221	130419221	+	Missense_Mutation	SNP	C	C	T	rs149790689		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:130419221C>T	uc004ewd.2	-	5	837	c.599G>A	c.(598-600)CGC>CAC	p.R200H	IGSF1_uc004ewe.3_Missense_Mutation_p.R189H|IGSF1_uc004ewf.2_Missense_Mutation_p.R180H|IGSF1_uc004ewg.2_Missense_Mutation_p.R200H	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	200	Ig-like C2-type 2.|Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						GATATGAGTGCGGCAGATGTA	0.552												
TFDP3	51270	broad.mit.edu	37	X	132351232	132351232	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:132351232C>A	uc004exb.1	-	1	1145	c.1056G>T	c.(1054-1056)TGG>TGT	p.W352C		NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	352						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					TGGCAGAAAGCCACGTGCCAT	0.567												
GPC3	2719	broad.mit.edu	37	X	132887715	132887715	+	Missense_Mutation	SNP	C	C	T	rs141100113	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:132887715C>T	uc004exe.1	-	3	1016	c.826G>A	c.(826-828)GGT>AGT	p.G276S	GPC3_uc004exd.1_Missense_Mutation_p.G148S|GPC3_uc010nrn.1_Missense_Mutation_p.G276S|GPC3_uc011mvh.1_Missense_Mutation_p.G260S|GPC3_uc010nro.1_Missense_Mutation_p.G222S|GPC3_uc010nrp.1_Missense_Mutation_p.G148S	NM_004484	NP_004475	P51654	GPC3_HUMAN	glypican 3 isoform 2 precursor	276						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			lung(2)|prostate(1)|breast(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					TTGCAGTAACCGCCACAGGGT	0.483			T|D|Mis|N|F|S			Wilms tumour			Simpson-Golabi-Behmel_syndrome			
MAP7D3	79649	broad.mit.edu	37	X	135313852	135313852	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:135313852C>T	uc004ezt.2	-	8	1355	c.1264G>A	c.(1264-1266)GCA>ACA	p.A422T	MAP7D3_uc004ezs.2_Missense_Mutation_p.A386T|MAP7D3_uc011mwc.1_Missense_Mutation_p.A404T|MAP7D3_uc010nsa.1_Missense_Mutation_p.A380T	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	422						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					GCTACTTCTGCGCTCCCCTTG	0.612												
SLITRK2	84631	broad.mit.edu	37	X	144904851	144904851	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:144904851G>A	uc004fcd.2	+	5	1898	c.908G>A	c.(907-909)CGG>CAG	p.R303Q	SLITRK2_uc010nsp.2_Missense_Mutation_p.R303Q|SLITRK2_uc010nso.2_Missense_Mutation_p.R303Q|SLITRK2_uc011mwq.1_Missense_Mutation_p.R303Q|SLITRK2_uc011mwr.1_Missense_Mutation_p.R303Q|SLITRK2_uc011mws.1_Missense_Mutation_p.R303Q|SLITRK2_uc004fcg.2_Missense_Mutation_p.R303Q|SLITRK2_uc011mwt.1_Missense_Mutation_p.R303Q	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	303	Extracellular (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGCCAGCCGGCCGCCCAAA	0.547												
FMR1NB	158521	broad.mit.edu	37	X	147106459	147106459	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:147106459A>G	uc004fcm.2	+	5	781	c.707A>G	c.(706-708)AAG>AGG	p.K236R		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	236	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAAGCGAAAGAGGAAGTCT	0.413												
GPR50	9248	broad.mit.edu	37	X	150348463	150348463	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:150348463C>T	uc010ntg.1	+	2	543	c.408C>T	c.(406-408)TAC>TAT	p.Y136Y	uc004fes.1_5'Flank|GPR50_uc011myc.1_Silent_p.Y136Y	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	136	Cytoplasmic (Potential).				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTCCAGTACGAACGGATCT	0.542												
CNGA2	1260	broad.mit.edu	37	X	150911109	150911109	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:150911109G>A	uc004fey.1	+	6	808	c.584G>A	c.(583-585)CGC>CAC	p.R195H		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	195	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					ATCCGATTGCGCACAGGTCAG	0.478												
ATP2B3	492	broad.mit.edu	37	X	152845658	152845658	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:152845658G>A	uc004fht.1	+	20	3691	c.3565G>A	c.(3565-3567)GGC>AGC	p.G1189S	ATP2B3_uc004fhs.1_3'UTR|ATP2B3_uc010nuf.1_Missense_Mutation_p.G326S|ATP2B3_uc004fhu.1_Missense_Mutation_p.G141S	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	1189	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATAGACAGCGGCATCTACCT	0.627												
SRPK3	26576	broad.mit.edu	37	X	153046961	153046961	+	Silent	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:153046961C>T	uc004fil.2	+	3	224	c.192C>T	c.(190-192)GGC>GGT	p.G64G	SRPK3_uc004fik.2_Silent_p.G130G|SRPK3_uc010nul.2_Silent_p.G22G|SRPK3_uc004fin.2_Silent_p.G64G|SRPK3_uc004fim.2_Silent_p.G64G	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	serine arginine rich protein-specific kinase 3	64					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)					CCTGGGCAGGCGGCTACCACC	0.657												
SRPK3	26576	broad.mit.edu	37	X	153048550	153048550	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:153048550C>T	uc004fil.2	+	7	757	c.725C>T	c.(724-726)GCG>GTG	p.A242V	SRPK3_uc004fik.2_Missense_Mutation_p.A308V|SRPK3_uc010nul.2_Missense_Mutation_p.A200V|SRPK3_uc004fin.2_Missense_Mutation_p.A242V|SRPK3_uc004fim.2_Missense_Mutation_p.A242V	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	serine arginine rich protein-specific kinase 3	242	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)					CAGGCAGGGGCGCCGCCCCCC	0.667												
FLNA	2316	broad.mit.edu	37	X	153577241	153577241	+	Silent	SNP	G	G	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:153577241G>A	uc004fkk.2	-	48	8169	c.7920C>T	c.(7918-7920)AGC>AGT	p.S2640S	FLNA_uc004fki.2_Silent_p.S680S|FLNA_uc011mzn.1_Silent_p.S773S|FLNA_uc010nuu.1_Silent_p.S2632S	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	2640	Self-association site, tail.|Filamin 24.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGCGGTAGGGGCTGCCTGGGA	0.677												
VAMP7	6845	broad.mit.edu	37	X	155119136	155119136	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:155119136A>G	uc004fnr.2	+	2	181	c.7A>G	c.(7-9)ATT>GTT	p.I3V	VAMP7_uc004fnt.2_Missense_Mutation_p.I3V|VAMP7_uc011naa.1_5'UTR|VAMP7_uc011nab.1_5'UTR|VAMP7_uc004fns.2_Missense_Mutation_p.I3V|VAMP7_uc011nac.1_5'UTR	NM_005638	NP_005629	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7 isoform 1	3	Cytoplasmic (Potential).				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGCCATGGCGATTCTTTTTGC	0.398												
CEBPZ	10153	broad.mit.edu	37	2	37430154	37430154	+	Splice_Site	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:37430153_37430153TA>T	uc002rpz.3	-	14	2915	c.2885_splice	c.e14-1	p.G962_splice	LOC100505876_uc002rpy.2_3'UTR|LOC100505876_uc002rpx.2_3'UTR	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	962					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTCTTGGCCCTAAAAAAAATT	0.269												
PSME4	23198	broad.mit.edu	37	2	54167140	54167140	+	Splice_Site	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348												
USP34	9736	broad.mit.edu	37	2	61577527	61577527	+	Splice_Site	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:61577526_61577526TA>T	uc002sbe.3	-	12	1400	c.1378_splice	c.e12-1	p.T460_splice		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	460					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTACAGTGTCTAAAAAAAAGA	0.338												
PRPF40A	55660	broad.mit.edu	37	2	153515706	153515706	+	Splice_Site	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:153515705_153515705TA>T	uc002tyh.4	-	23	2432	c.2410_splice	c.e23-1	p.G804_splice	PRPF40A_uc002tyg.4_Splice_Site_p.G260_splice|PRPF40A_uc010zcd.1_Splice_Site_p.G755_splice	NM_017892	NP_060362	O75400	PR40A_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) (PRPF40A), mRNA.	831					RNA splicing|mRNA processing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						ATCTGACCCCTAAAAAACACA	0.373												
ACTR8	93973	broad.mit.edu	37	3	53910110	53910110	+	Splice_Site	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:53910109_53910109TG>T	uc003dhd.3	-	7	880	c.779_splice	c.e7-1	p.G260_splice	ACTR8_uc003dhb.3_Splice_Site_p.G10_splice|ACTR8_uc003dhc.3_Splice_Site_p.G149_splice	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	Homo sapiens ARP8 actin-related protein 8 homolog (yeast) (ACTR8), mRNA.	260					DNA recombination|DNA repair|cell division|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		CCACAATCCCTGGGGGGGGAA	0.517												
FRYL	285527	broad.mit.edu	37	4	48544141	48544141	+	Splice_Site	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:48544140_48544140TG>T	uc003gyh.1	-	45	6198	c.5593_splice	c.e45-1	p.G1865_splice	FRYL_uc003gyg.1_Splice_Site_p.G561_splice|FRYL_uc003gyi.1_Splice_Site_p.G753_splice|FRYL_uc003gyj.1_Splice_Site_p.G160_splice	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	1865					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CACAAATCCCTGGGGGGAAAA	0.363												
GFRA3	2676	broad.mit.edu	37	5	137593643	137593643	+	Splice_Site	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:137593642_137593642TG>T	uc003lcn.3	-	4	613	c.473_splice	c.e4-1	p.D158_splice	GFRA3_uc003lco.3_Splice_Site_p.D127_splice	NM_001496	NP_001487	O60609	GFRA3_HUMAN	Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA.	158					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGTCTGAGTCTGGGGGGAAAG	0.617												
RNF145	153830	broad.mit.edu	37	5	158596066	158596066	+	Splice_Site	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:158596065_158596065TA>T	uc010jiq.2	-	8	1179	c.1029_splice	c.e8-1	p.R343_splice	RNF145_uc011ddy.2_Splice_Site_p.R327_splice|RNF145_uc003lxo.2_Splice_Site_p.R341_splice|RNF145_uc011ddz.2_Splice_Site_p.R330_splice|RNF145_uc003lxp.3_Splice_Site_p.R313_splice|RNF145_uc011dea.2_Intron	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	313						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCATGCCCCTAAAAAAAGCA	0.363												
MAGI2	9863	broad.mit.edu	37	7	77764526	77764527	+	Splice_Site	INS	-	-	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:77764525_77764526T>TA	uc003ugx.3	-	17	3100	c.2846_splice	c.e17-1	p.T949_splice	MAGI2_uc003ugy.3_Splice_Site_p.T935_splice|MAGI2_uc010ldx.1_Splice_Site_p.T542_splice	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	949	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGGGCACAGCTAAAAAAACCCC	0.460												
GSDMC	56169	broad.mit.edu	37	8	130764140	130764140	+	Splice_Site	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:130764139_130764139TA>T	uc003ysr.3	-	9	1769	c.887_splice	c.e9-1	p.K296_splice		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	296						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GTTCGTATTCTAAAAAAAGAA	0.473												
DPP7	29952	broad.mit.edu	37	9	140006327	140006327	+	Splice_Site	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:140006326_140006326AC>A	uc004clh.3	-	10	1237	c.1207_splice	c.e10+1	p.D403_splice		NM_013379	NP_037511	Q9UHL4	DPP2_HUMAN	Homo sapiens dipeptidyl-peptidase 7 (DPP7), mRNA.	403						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity	p.D403fs*1(1)		endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		CAGCCTTACCACCCCCCCAGA	0.701												
SORCS1	114815	broad.mit.edu	37	10	108489875	108489875	+	Splice_Site	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:108489874_108489874TA>T	uc001kyl.3	-	6	1142	c.960_splice	c.e6-1	p.W320_splice	SORCS1_uc021pxw.1_Splice_Site_p.W320_splice|SORCS1_uc009xxs.3_Splice_Site_p.W320_splice|SORCS1_uc001kym.3_Splice_Site_p.W320_splice|SORCS1_uc001kyn.2_Splice_Site_p.W320_splice|SORCS1_uc001kyo.3_Splice_Site_p.W320_splice	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	320						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ATCACAGACCTAAAAAATGGA	0.423												
SPTBN2	6712	broad.mit.edu	37	11	66457417	66457417	+	Splice_Site	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:66457416_66457416TG>T	uc001ojd.3	-	28	5883	c.5811_splice	c.e28-1	p.R1937_splice	SPTBN2_uc001ojc.1_5'Flank	NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	1937					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GACACATCCCTGGGGGGAGGC	0.627												
KIF21A	55605	broad.mit.edu	37	12	39735929	39735929	+	Splice_Site	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:39735928_39735928TA>T	uc001rly.3	-	13	2133	c.1713_splice	c.e13-1	p.S571_splice	KIF21A_uc001rlw.3_5'Flank|KIF21A_uc001rlx.3_Splice_Site_p.S558_splice|KIF21A_uc001rlz.3_Splice_Site_p.S558_splice|KIF21A_uc010skl.2_Splice_Site_p.S558_splice	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	571					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CCAGCCACACTAAAAAAAGGA	0.333												
SLC24A6	80024	broad.mit.edu	37	12	113758306	113758306	+	Splice_Site	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:113758305_113758305TG>T	uc001tvc.3	-	7	737	c.527_splice	c.e7-1	p.G176_splice	SLC24A6_uc001tuz.3_5'Flank|SLC24A6_uc001tva.3_Splice_Site|SLC24A6_uc001tvb.3_Intron	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	176					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CGCCAGCGCCTGGGGGGAGGA	0.647												
CENPJ	55835	broad.mit.edu	37	13	25458604	25458604	+	Splice_Site	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:25458603_25458603TA>T	uc001upt.4	-	14	3731	c.3478_splice	c.e14-1	p.V1160_splice	CENPJ_uc010tdf.2_Splice_Site|CENPJ_uc010aaf.3_Splice_Site	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	1160					G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTTTTCCACCTAAAAAACCAA	0.388												
LMAN1	3998	broad.mit.edu	37	18	57013285	57013285	+	Splice_Site	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	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												
ARFRP1	10139	broad.mit.edu	37	20	62331956	62331957	+	Splice_Site	DEL	TG	TG	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:62331955_62331956CTG>C	uc002ygf.3	-	7	661	c.518_splice	c.e7+1	p.G173_splice	ARFRP1_uc002yga.3_Splice_Site_p.G173_splice|ARFRP1_uc011abf.2_3'UTR|ARFRP1_uc002ygh.4_Frame_Shift_Del_p.T172fs|ARFRP1_uc002ygc.3_Splice_Site_p.G173_splice|ARFRP1_uc011abg.2_Frame_Shift_Del_p.T172fs|ARFRP1_uc011abh.2_Splice_Site	NM_003224	NP_003215	Q13795	ARFRP_HUMAN	Homo sapiens ADP-ribosylation factor related protein 1 (ARFRP1), transcript variant 1, mRNA.	173					small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			CCCACTCACCCTGTGAGGGCCG	0.658												
SMPX	23676	broad.mit.edu	37	X	21772423	21772423	+	Splice_Site	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:21772422_21772422TA>T	uc004daa.3	-	2	220	c.-11_splice	c.e2-1		SMPX_uc022btv.1_Splice_Site	NM_014332	NP_055147	Q9UHP9	SMPX_HUMAN	Homo sapiens small muscle protein, X-linked (SMPX), transcript variant 1, mRNA.						striated muscle contraction					breast(1)|endometrium(1)	2						GTCTTATCCCTAAAAAAACAA	0.408												
ANUBL1	93550	broad.mit.edu	37	10	46121425	46121425	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:46121425delG	uc001jcp.3	-	7	2088	c.1846delC	c.(1846-1848)CAGfs	p.Q616fs	ANUBL1_uc001jcl.3_Frame_Shift_Del_p.Q136fs|ANUBL1_uc001jcm.3_Frame_Shift_Del_p.Q616fs|ANUBL1_uc009xmu.2_Frame_Shift_Del_p.Q542fs|ANUBL1_uc001jcn.3_Frame_Shift_Del_p.Q542fs|ANUBL1_uc001jco.3_Intron	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN	AN1, ubiquitin-like, homolog	616							zinc ion binding				0						TGTTCTAACTGGGGAGAACTT	0.408												
C10orf46	143384	broad.mit.edu	37	10	120514110	120514110	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:120514110delC	uc001lds.1	-	1	649	c.165delG	c.(163-165)GGGfs	p.G55fs	C10orf46_uc010qst.1_RNA	NM_153810	NP_722517	Q86Y37	CJ046_HUMAN	chromosome 10 open reading frame 46	55	Pro-rich.				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding				0		Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0131)		CCAGCAGCTGCCCCCCCGGAG	0.736												
ARHGAP32	9743	broad.mit.edu	37	11	128851757	128851757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:128851757delT	uc009zcp.2	-	15	1559	c.1559delA	c.(1558-1560)AATfs	p.N520fs	ARHGAP32_uc009zcq.1_Frame_Shift_Del_p.N480fs|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Frame_Shift_Del_p.N171fs	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	520	Rho-GAP.				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						AATTGCTAGATTTTTTGCATG	0.333												
MLL2	8085	broad.mit.edu	37	12	49443667	49443667	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:49443667delC	uc001rta.3	-	11	3704	c.3704delG	c.(3703-3705)GGTfs	p.G1235fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1235					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						CAGGGAGCCACCCCCCTCCGG	0.592			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
YEATS4	8089	broad.mit.edu	37	12	69783974	69783974	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:69783974delA	uc001sux.2	+	7	783	c.562delA	c.(562-564)AAAfs	p.K188fs		NM_006530	NP_006521	O95619	YETS4_HUMAN	glioma-amplified sequence-41	188	Interaction with MLLT10.|Potential.|Interaction with TACC1.				histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton				0	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			AGCTGCTAAGAAAAAAACAAG	0.289												
ALKBH2	121642	broad.mit.edu	37	12	109526014	109526014	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:109526014delT	uc001tnx.2	-	4	1176	c.783delA	c.(781-783)AAAfs	p.K261fs	ALKBH2_uc001tny.2_Frame_Shift_Del_p.K261fs|ALKBH2_uc010sxj.1_Frame_Shift_Del_p.K261fs|ALKBH2_uc009zvd.2_3'UTR|ALKBH2_uc010sxk.1_3'UTR	NM_001145374	NP_001138846	Q6NS38	ALKB2_HUMAN	AlkB homolog 2	261					DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0					Vitamin C(DB00126)	AATGTTTTTATTTTTTAGTAA	0.418								Direct_reversal_of_damage				
PYCARD	29108	broad.mit.edu	37	16	31212940	31212941	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:31212940_31212941delTG	uc010cak.2	-	3	793_794	c.553_554delCA	c.(553-555)CAGfs	p.Q185fs	PYCARD_uc002ebm.2_Frame_Shift_Del_p.Q166fs	NM_013258	NP_037390	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing isoform a	185	CARD.				induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding				0						CAGGTAGGACTGGGACTCCCTT	0.589												
ITGB4	3691	broad.mit.edu	37	17	73738521	73738521	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:73738521delC	uc002jpg.2	+	24	2920	c.2733delC	c.(2731-2733)TTCfs	p.F911fs	ITGB4_uc002jph.2_Frame_Shift_Del_p.F911fs|ITGB4_uc002jpi.3_Frame_Shift_Del_p.F911fs|ITGB4_uc010dgp.1_Frame_Shift_Del_p.P924fs|ITGB4_uc002jpj.2_Frame_Shift_Del_p.F911fs	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	911	Cytoplasmic (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGAGGGCCTTCCACGACCTCA	0.657												
FASN	2194	broad.mit.edu	37	17	80049540	80049540	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:80049540delG	uc002kdu.2	-	9	1167	c.1050delC	c.(1048-1050)CACfs	p.H350fs	FASN_uc002kdw.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	350	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CCCAGAGCCCGTGCTCCAGGG	0.697												
CIC	23152	broad.mit.edu	37	19	42797376	42797376	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:42797376delC	uc002otf.1	+	15	3778	c.3738delC	c.(3736-3738)AGCfs	p.S1246fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	1246	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)				CCCGGAGCAGCCCCCCACTGC	0.706			T	DUX4	soft tissue sarcoma							
BCL2L12	83596	broad.mit.edu	37	19	50173596	50173596	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:50173596delC	uc002ppa.2	+	6	1487	c.805delC	c.(805-807)CCCfs	p.P269fs	BCL2L12_uc002ppb.2_Frame_Shift_Del_p.P268fs	NM_138639	NP_619580	Q9HB09	B2L12_HUMAN	BCL2-like 12 isoform 1	269					apoptosis					central_nervous_system(1)	1		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		ATGCCCCGGGCCCCCGCCTCC	0.731												
PTPN23	25930	broad.mit.edu	37	3	47452588	47452588	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:47452588delC	uc003crf.1	+	20	3396	c.3300delC	c.(3298-3300)CGCfs	p.R1100fs	PTPN23_uc011baw.1_Frame_Shift_Del_p.R1065fs|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Frame_Shift_Del_p.R970fs|uc003cri.2_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	1100	Pro-rich.|His.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TACCCCCTCGCCCCCCAGCAG	0.692												
C3orf62	375341	broad.mit.edu	37	3	49314258	49314258	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:49314258delT	uc003cwn.2	-	1	251	c.48delA	c.(46-48)AAAfs	p.K16fs	C3orf62_uc003cwm.2_5'Flank	NM_198562	NP_940964	Q6ZUJ4	CC062_HUMAN	hypothetical protein LOC375341	16											0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATCTTCTTAGTTTTTCAGACA	0.448												
C3orf63	23272	broad.mit.edu	37	3	56681079	56681079	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:56681079delA	uc003did.3	-	14	1787	c.1686delT	c.(1684-1686)TTTfs	p.F562fs	C3orf63_uc003dic.3_Frame_Shift_Del_p.F166fs|C3orf63_uc003die.3_Frame_Shift_Del_p.F562fs	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	562										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		AACCTCGCTTAAAAAATTCAC	0.289												
PVRL3	25945	broad.mit.edu	37	3	110852822	110852822	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:110852822delA	uc003dxt.1	+	6	1410	c.1410delA	c.(1408-1410)GTAfs	p.V470fs	PVRL3_uc003dxu.1_Intron	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3 precursor	470	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			upper_aerodigestive_tract(2)	2						CAGACAGTGTAAAAAAAGAAA	0.333												
ABTB1	80325	broad.mit.edu	37	3	127396115	127396115	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:127396115delC	uc003ejt.2	+	8	836	c.748delC	c.(748-750)CCCfs	p.P250fs	ABTB1_uc003ejr.2_Frame_Shift_Del_p.P108fs|ABTB1_uc003ejs.2_Frame_Shift_Del_p.P225fs|ABTB1_uc003eju.2_Frame_Shift_Del_p.P108fs|ABTB1_uc010hsm.2_Frame_Shift_Del_p.P10fs	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	250						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity				0						TTGTGCCCTGCCCCCCGAGCT	0.637												
CCRL1	51554	broad.mit.edu	37	3	132319752	132319752	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:132319752delC	uc003eow.2	+	2	594	c.511delC	c.(511-513)CCCfs	p.P171fs	ACAD11_uc003eov.3_Intron|ACAD11_uc011blr.1_Intron|CCRL1_uc003eox.2_Frame_Shift_Del_p.P171fs	NM_016557	NP_057641	Q9NPB9	CCRL1_HUMAN	chemokine (C-C motif) receptor-like 1	171	Helical; Name=4; (Potential).				chemotaxis|immune response	integral to plasma membrane	C-C chemokine receptor activity				0						GCTGAGCATACCCCAGCTGGT	0.448												
ATP10D	57205	broad.mit.edu	37	4	47559941	47559942	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:47559941_47559942delAG	uc003gxk.1	+	12	2249_2250	c.2085_2086delAG	c.(2083-2088)ACAGAGfs	p.T695fs	ATP10D_uc003gxl.1_Intron	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	695_696	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						GCACAGAAACAGAGAAACAACA	0.559												
EPB41L4A	64097	broad.mit.edu	37	5	111576418	111576418	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:111576418delA	uc003kpv.1	-	10	1159	c.885delT	c.(883-885)TTTfs	p.F295fs		NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	295	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CAATTTACCTAAAAAATGTAT	0.303												
PRPF4B	8899	broad.mit.edu	37	6	4052975	4052975	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:4052975delA	uc003mvv.2	+	11	2425	c.2334delA	c.(2332-2334)TTAfs	p.L778fs	PRPF4B_uc003mvw.2_RNA|C6orf146_uc010jnq.1_Intron|PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	778	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GAGAGGTGTTAAAAAAATATG	0.299												
TFAP2A	7020	broad.mit.edu	37	6	10402804	10402804	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:10402804delT	uc003myr.2	-	5	1056	c.804delA	c.(802-804)AAAfs	p.K268fs	TFAP2A_uc003myq.2_Frame_Shift_Del_p.K262fs|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_Frame_Shift_Del_p.K268fs|TFAP2A_uc003myt.2_Frame_Shift_Del_p.K264fs|TFAP2A_uc003myu.1_Frame_Shift_Del_p.K268fs	NM_003220	NP_003211	P05549	AP2A_HUMAN	transcription factor AP-2 alpha isoform a	268					ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			ovary(1)	1	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				TTTTGTCCAGTTTTTCTCTTA	0.423												
SP8	221833	broad.mit.edu	37	7	20824665	20824665	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:20824665delC	uc003suy.2	-	3	958	c.717delG	c.(715-717)GGGfs	p.G239fs	SP8_uc003suz.2_Frame_Shift_Del_p.G257fs	NM_198956	NP_945194	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor isoform 2	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1						AGGTTTGGAGCCCCCCGGCGG	0.711												
GIMAP8	155038	broad.mit.edu	37	7	150174435	150174435	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:150174435delA	uc003whj.2	+	5	1895	c.1565delA	c.(1564-1566)GAAfs	p.E522fs		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	522						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TCCTGCTGTGAAAAAGGGGAC	0.517												
MLL3	58508	broad.mit.edu	37	7	151845959	151845959	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:151845959delT	uc003wla.2	-	52	13272	c.13053delA	c.(13051-13053)AAAfs	p.K4351fs	MLL3_uc003wkz.2_Frame_Shift_Del_p.K3469fs|MLL3_uc003wkx.2_Frame_Shift_Del_p.K509fs|MLL3_uc003wky.2_Frame_Shift_Del_p.K1915fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4351					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTCCTCTCCATTTTTTATTGA	0.443			N		medulloblastoma							
RAPGEF1	2889	broad.mit.edu	37	9	134464198	134464198	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:134464198delC	uc004cbc.2	-	17	2615	c.2485delG	c.(2485-2487)GTAfs	p.V829fs	RAPGEF1_uc004cbb.2_Frame_Shift_Del_p.V847fs	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	829					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)		CTGGCTGCTACCCCCCGGGCT	0.657												
CLSTN1	22883	broad.mit.edu	37	1	9809959	9809959	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:9809958_9809958GT>G	uc001aqh.3	-	5	1422	c.663_663AC>C	c.(661-663)aacfs	p.N221fs	CLSTN1_uc001aqi.3_Frame_Shift_Del_p.N211fs|CLSTN1_uc010oag.2_Frame_Shift_Del_p.N221fs	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	Homo sapiens calsyntenin 1 (CLSTN1), transcript variant 1, mRNA.	221	Cadherin 2.				homophilic cell adhesion	Golgi membrane|cell junction|cell projection|endoplasmic reticulum membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	p.N221fs*5(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-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;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		ATTTCTCTGTGTTTTTTATAT	0.403												
IL22RA1	58985	broad.mit.edu	37	1	24447935	24447935	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:24447934_24447934TG>T	uc001biq.2	-	6	1289	c.1086_1086CA>A	c.(1084-1086)ccafs	p.P362fs	IL22RA1_uc010oeg.1_Frame_Shift_Del_p.P294fs|IL22RA1_uc009vrb.2_Frame_Shift_Del_p.P226fs|IL22RA1_uc010oeh.2_Frame_Shift_Del_p.P362fs	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	362						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		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)		GTGCATAGGATGGGGGCCCGA	0.617												
GRHL3	57822	broad.mit.edu	37	1	24664149	24664150	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:24664148_24664149T>TC	uc021oiw.1	+	5	939_940	c.709_710T>TC	c.(709-711)tccfs	p.S237fs	GRHL3_uc001bix.3_Frame_Shift_Ins_p.S237fs|GRHL3_uc021oix.1_Frame_Shift_Ins_p.S191fs|GRHL3_uc001biy.3_Frame_Shift_Ins_p.S242fs|GRHL3_uc001biz.3_Frame_Shift_Ins_p.S144fs	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	237					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CACCCTGGGCTCCCCCAAAGCC	0.614												
ARID1A	8289	broad.mit.edu	37	1	27057709	27057710	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:27057708_27057709C>CA	uc001bmv.1	+	2	1789_1790	c.1416_1417C>CA	c.(1414-1419)aaccagfs	p.N472fs	ARID1A_uc001bmt.1_Frame_Shift_Ins_p.N472fs|ARID1A_uc001bmu.1_Frame_Shift_Ins_p.N472fs|ARID1A_uc001bmw.1_Frame_Shift_Ins_p.N89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	472					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CATATTACAACCAGCAAAGTCC	0.535			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
SERINC2	347735	broad.mit.edu	37	1	31899504	31899506	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:31899503_31899505CTCT>C	uc021okm.1	+	6	913_915	c.640_642CTCT>C	c.(640-642)ctc>C	p.L214del	SERINC2_uc010ogg.2_In_Frame_Del_p.L209del|SERINC2_uc001bst.3_In_Frame_Del_p.L205del|SERINC2_uc001bsu.3_In_Frame_Del_p.L150del|SERINC2_uc010ogh.2_In_Frame_Del_p.L209del	NM_001199038	NP_001185967	Q96SA4	SERC2_HUMAN	Homo sapiens serine incorporator 2 (SERINC2), transcript variant 4, mRNA.	205						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		TGGCCCAGGCCTCTTCTTCTTCA	0.621												
MARCKSL1	65108	broad.mit.edu	37	1	32800540	32800540	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:32800539_32800539TG>T	uc001bvd.3	-	1	447	c.247_247CA>A	c.(247-249)aagfs	p.K83fs		NM_023009	NP_075385	P49006	MRP_HUMAN	Homo sapiens MARCKS-like 1 (MARCKSL1), mRNA.	83						plasma membrane	calmodulin binding	p.K83fs*33(4)		breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGGGTCTCCTTGGGGGGGACC	0.587												
GJB5	2709	broad.mit.edu	37	1	35223699	35223700	+	In_Frame_Ins	INS	-	-	TCC			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:35223698_35223699A>ATCC	uc001bxu.3	+	1	867_868	c.767_768A>ATCC	c.(766-768)cat>cATCC	p.H256H	GJB5_uc021okz.1_In_Frame_Ins_p.H256H|GJB4_uc001bxv.1_5'Flank	NM_005268	NP_005259	O95377	CXB5_HUMAN	Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA.	256					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				TCAGACAGTCATCCTCCTCTCT	0.584												
ZMYM4	9202	broad.mit.edu	37	1	35836080	35836080	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:35836079_35836079TA>T	uc001byt.3	+	6	1112	c.1032_1032TA>T	c.(1030-1032)tgtfs	p.C344fs	ZMYM4_uc009vuu.3_Frame_Shift_Del_p.C312fs|ZMYM4_uc001byu.3_Frame_Shift_Del_p.C20fs|ZMYM4_uc009vuv.3_Frame_Shift_Del_p.C83fs|AF119915_uc001byv.2_5'Flank	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	344					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTTCTGGTTGTAAAAAAATCC	0.478												
GNG12	55970	broad.mit.edu	37	1	68171151	68171151	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:68171150_68171150GT>G	uc001dea.2	-	3	408	c.203_203AC>C	c.(202-204)actfs	p.T68fs		NM_018841	NP_061329	Q9UBI6	GBG12_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 12 (GNG12), mRNA.	68					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			lung(3)	3						GATGATGCAAGTTTTTTTATC	0.433												
USP33	23032	broad.mit.edu	37	1	78205026	78205027	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:78205025_78205026C>CA	uc001dht.3	-	5	715_716	c.368_369G>TG	c.(367-369)ttgfs	p.L123fs	USP33_uc001dhu.3_Frame_Shift_Ins_p.L92fs|USP33_uc001dhv.3_5'UTR|USP33_uc001dhw.3_Frame_Shift_Ins_p.L123fs	NM_015017	NP_963918	Q8TEY7	UBP33_HUMAN	Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA.	123					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	VCB complex|perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						ATTTCCTATCCAAAAATACTTC	0.376												
DENND2D	79961	broad.mit.edu	37	1	111730238	111730239	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:111730237_111730238G>GT	uc001eak.1	-	11	1605_1606	c.1405_1406C>AC	c.(1405-1407)actfs	p.T469fs	DENND2D_uc001eal.1_Frame_Shift_Ins_p.T466fs	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN	Homo sapiens DENN/MADD domain containing 2D (DENND2D), mRNA.	469										breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TTATTTCACAGTTTTTTCCCTT	0.426												
CASQ2	845	broad.mit.edu	37	1	116243913	116243914	+	In_Frame_Ins	INS	-	-	ATC	rs72554069		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:116243912_116243913T>TATC	uc001efx.4	-	10	1413_1414	c.1149_1150A>GATA	c.(1147-1152)gataat>gaGATAat	p.383_384DN>EI	CASQ2_uc010owu.2_In_Frame_Ins_p.312_313DN>EI	NM_001232	NP_001223	O14958	CASQ2_HUMAN	Homo sapiens calsequestrin 2 (cardiac muscle) (CASQ2), nuclear gene encoding mitochondrial protein, mRNA.	383	Asp/Glu-rich (acidic).				heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		tcatcagaattatcatcatcat	0.406												
ANKRD34A	284615	broad.mit.edu	37	1	145473989	145473989	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:145473988_145473988GC>G	uc021ouy.1	+	0	660	c.660_660GC>G	c.(658-660)aagfs	p.K220fs	ANKRD34A_uc001enq.1_Frame_Shift_Del_p.K220fs	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	Homo sapiens ankyrin repeat domain 34A (ANKRD34A), mRNA.	220	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTCTTCCTAAGCCCCCCGATG	0.612												
BCL9	607	broad.mit.edu	37	1	147092681	147092681	+	Frame_Shift_Del	DEL	C	C	-	rs35292683		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:147092680_147092680TC>T	uc001epq.3	+	7	3459	c.2719_2719TC>T	c.(2719-2721)tccfs	p.S907fs	BCL9_uc010ozr.1_Frame_Shift_Del_p.S833fs	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	907	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TTCCATTAAGTCCCCCCCTGT	0.617			T	"""IGH@, IGL@"""	B-ALL							
RPRD2	23248	broad.mit.edu	37	1	150337344	150337344	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:150337343_150337343CA>C	uc009wlr.3	+	0	354	c.153_153CA>C	c.(151-153)aacfs	p.N51fs	RPRD2_uc010pcc.1_Frame_Shift_Del_p.N51fs|RPRD2_uc001eup.4_Frame_Shift_Del_p.N51fs	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	51	CID.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GTATAGAGAACAAAAAACACC	0.502												
ZNF687	57592	broad.mit.edu	37	1	151259629	151259631	+	In_Frame_Del	DEL	GAT	GAT	-	rs149043825		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:151259628_151259630AGAT>A	uc001exq.3	+	1	959_961	c.861_863AGAT>A	c.(859-864)gaagat>gaAt	p.D290del	ZNF687_uc001exp.1_In_Frame_Del_p.D299del|ZNF687_uc009wmo.3_In_Frame_Del_p.D290del|ZNF687_uc009wmp.3_In_Frame_Del_p.D290del	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	290	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	p.E287D(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGAAGGAAGAAGATGATGATGAG	0.611												
LINGO4	339398	broad.mit.edu	37	1	151774033	151774033	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:151774032_151774032AG>A	uc001ezf.1	-	1	1339	c.1149_1149CT>T	c.(1147-1149)cctfs	p.P383fs	LINGO4_uc021oyu.1_Frame_Shift_Del_p.P383fs	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	383	LRRCT.					integral to membrane		p.P383T(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCACAGGCAGGGGGGGACA	0.627												
LCE1F	353137	broad.mit.edu	37	1	152748934	152748934	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:152748933_152748933GC>G	uc010pdv.2	+	0	86	c.86_86GC>G	c.(85-87)tgcfs	p.C29fs		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	29	Pro-rich.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			acaccgaagtgccccccaaag	0.657												
TRIM46	80128	broad.mit.edu	37	1	155148062	155148062	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:155148061_155148061GC>G	uc001fhs.1	+	1	346	c.263_263GC>G	c.(262-264)agcfs	p.S88fs	KRTCAP2_uc001fho.3_5'Flank|KRTCAP2_uc001fhp.1_5'Flank|TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc010pez.1_Frame_Shift_Del_p.S75fs|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Frame_Shift_Del_p.S88fs|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Intron|TRIM46_uc001fhu.1_Frame_Shift_Del_p.S65fs|TRIM46_uc009wpg.1_Frame_Shift_Del_p.S75fs|TRIM46_uc009wpf.2_Frame_Shift_Del_p.S75fs|TRIM46_uc001fhw.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	88						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCACCCGCAGCCCCCGCCTC	0.682												
GORAB	92344	broad.mit.edu	37	1	170511699	170511699	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:170511698_170511698TA>T	uc001gha.2	+	2	588	c.561_561TA>T	c.(559-561)cgtfs	p.R187fs	GORAB_uc001ggz.4_Frame_Shift_Del_p.R187fs|GORAB_uc009wvx.2_Frame_Shift_Del_p.R7fs|GORAB_uc001ghb.2_Frame_Shift_Del_p.R7fs|GORAB_uc001ghc.2_Frame_Shift_Del_p.R7fs|GORAB_uc001ghd.2_5'Flank	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA.	187						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						AAAATAAACGTAAAAAAGCTC	0.393												
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Ins	INS	-	-	AG	rs147596634	by1000genomes	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:181680101_181680102A>AAG	uc009wxt.3	+	7	1262_1263	c.1067_1068A>AAG	c.(1066-1068)aaafs	p.K356fs	CACNA1E_uc001gow.3_Frame_Shift_Ins_p.K356fs|CACNA1E_uc009wxs.3_Frame_Shift_Ins_p.K356fs	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	356					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAATTTGCCAAAGAGAGAGAGA	0.510												
TMEM81	388730	broad.mit.edu	37	1	205053329	205053330	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:205053328_205053329T>TC	uc001hbt.3	-	0	260_261	c.120_121A>GA	c.(118-123)gggaaafs	p.G40fs		NM_203376	NP_976310	Q6P7N7	TMM81_HUMAN	Homo sapiens transmembrane protein 81 (TMEM81), mRNA.	40						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			ATGATAACTTTCCCCACAGCTT	0.530												
MIA3	375056	broad.mit.edu	37	1	222802779	222802780	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr1:222802778_222802779C>CA	uc001hnl.3	+	3	2225_2226	c.2216_2217C>CA	c.(2215-2217)gcafs	p.A739fs	MIA3_uc009xea.1_Frame_Shift_Ins_p.A575fs	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	739					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	p.A739S(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GCTATAAATGCAAAACGGTCTA	0.436												
MAPRE3	22924	broad.mit.edu	37	2	27248479	27248479	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:27248478_27248478CA>C	uc002rhw.3	+	4	650	c.497_497CA>C	c.(496-498)ccafs	p.P166fs		NM_012326	NP_036458	Q9UPY8	MARE3_HUMAN	Homo sapiens microtubule-associated protein, RP/EB family, member 3 (MAPRE3), mRNA.	166					cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCACAGGCCCAAAAAACATG	0.597												
C2orf71	388939	broad.mit.edu	37	2	29294162	29294162	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:29294161_29294161AG>A	uc002rmt.2	-	0	2967	c.2967_2967CT>T	c.(2965-2967)cctfs	p.P989fs		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	989					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TTCTGCCCACAGGGGGGCTTC	0.642												
CDKL4	344387	broad.mit.edu	37	2	39456572	39456572	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:39456571_39456571AT>A	uc010fal.2	-	0	103	c.103_103AT>T	c.(103-105)tttfs	p.F35fs	CDKL4_uc002rrm.3_Frame_Shift_Del_p.F35fs	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN	Homo sapiens cyclin-dependent kinase-like 4 (CDKL4), mRNA.	35	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				GATTCCACAAATTTTTTAACA	0.323												
SLC8A1	6546	broad.mit.edu	37	2	40656343	40656343	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:40656342_40656342CT>C	uc002rrx.3	-	0	1103	c.1079_1079AG>G	c.(1078-1080)agtfs	p.S360fs	SLC8A1_uc002rry.3_Frame_Shift_Del_p.S360fs|SLC8A1_uc002rsb.2_Frame_Shift_Del_p.S360fs|SLC8A1_uc002rrz.3_Frame_Shift_Del_p.S360fs|SLC8A1_uc002rsa.3_Frame_Shift_Del_p.S360fs|SLC8A1_uc002rsd.4_Frame_Shift_Del_p.S360fs|SLC8A1_uc010fan.1_Frame_Shift_Del_p.S360fs|SLC8A1_uc002rsc.1_Frame_Shift_Del_p.S360fs	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	360					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.S360fs*2(2)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AAATGCTCTACTTTTTTGCTG	0.423												
RHOQ	23433	broad.mit.edu	37	2	46808174	46808174	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:46808173_46808173TA>T	uc002rva.3	+	4	888	c.569_569TA>T	c.(568-570)gtafs	p.V190fs	BC048424_uc002rvb.3_5'Flank	NM_012249	NP_036381	P17081	RHOQ_HUMAN	Homo sapiens ras homolog gene family, member Q (RHOQ), mRNA.	190					cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AAACACACTGTAAAAAAAAGA	0.368												
GPR75	10936	broad.mit.edu	37	2	54081175	54081175	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:54081174_54081174AG>A	uc021vhn.1	-	0	720	c.720_720CT>T	c.(718-720)cctfs	p.P240fs	GPR75-ASB3_uc002rxi.4_Intron|GPR75_uc002rxo.3_Frame_Shift_Del_p.P240fs	NM_006794	NP_006785	O95800	GPR75_HUMAN	Homo sapiens G protein-coupled receptor 75 (GPR75), mRNA.	240						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CTGTGATTACAGGGGGGCACT	0.542												
CCDC88A	55704	broad.mit.edu	37	2	55561646	55561647	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:55561645_55561646G>GT	uc002ryv.2	-	14	3153_3154	c.2311_2312C>AC	c.(2311-2313)actfs	p.T771fs	CCDC88A_uc010ypa.1_Frame_Shift_Ins_p.T771fs|CCDC88A_uc010yoz.1_Frame_Shift_Ins_p.T771fs|CCDC88A_uc010ypb.1_Frame_Shift_Ins_p.T673fs|CCDC88A_uc002ryu.2_Frame_Shift_Ins_p.T54fs|CCDC88A_uc002ryw.3_Frame_Shift_Ins_p.T54fs	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	771					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			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						GTTCTCTAAAGTTTTTTGCAGT	0.342												
CCDC88A	55704	broad.mit.edu	37	2	55561755	55561755	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:55561754_55561754CT>C	uc002ryv.2	-	14	3045	c.2203_2203AG>G	c.(2203-2205)gagfs	p.E735fs	CCDC88A_uc010ypa.1_Frame_Shift_Del_p.E735fs|CCDC88A_uc010yoz.1_Frame_Shift_Del_p.E735fs|CCDC88A_uc010ypb.1_Frame_Shift_Del_p.E637fs|CCDC88A_uc002ryu.2_Frame_Shift_Del_p.E18fs|CCDC88A_uc002ryw.3_Frame_Shift_Del_p.E18fs	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	735					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			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						TTAAGTTGCTCTTTTTCACTT	0.383												
PTPN4	5775	broad.mit.edu	37	2	120677773	120677773	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:120677772_120677772AT>A	uc002tmf.1	+	11	1727	c.956_956AT>A	c.(955-957)aatfs	p.N319fs	PTPN4_uc010flj.1_Frame_Shift_Del_p.N32fs	NM_002830	NP_002821	P29074	PTN4_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) (PTPN4), mRNA.	319						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	CCTCAAAAGAATTTTTTTGCA	0.333												
CCDC74B	91409	broad.mit.edu	37	2	130897852	130897852	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:130897851_130897851TG>T	uc010yzw.1	-	3	1827	c.1083_1083CA>A	c.(1081-1083)ccafs	p.P361fs	CCDC74B_uc002tqm.1_Frame_Shift_Del_p.P259fs|CCDC74B_uc002tqn.1_Frame_Shift_Del_p.P193fs			Q96LY2	CC74B_HUMAN	Homo sapiens coiled-coil domain containing 74B (CCDC74B), mRNA.	259										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GCAGGATCATTGGGGGGTGTG	0.612												
PRPF40A	55660	broad.mit.edu	37	2	153515706	153515706	+	Splice_Site	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:153515705_153515705TA>T	uc002tyh.4	-	23	2432	c.2410_splice	c.e23-1	p.G804_splice	PRPF40A_uc002tyg.4_Splice_Site_p.G260_splice|PRPF40A_uc010zcd.1_Splice_Site_p.G755_splice	NM_017892	NP_060362	O75400	PR40A_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) (PRPF40A), mRNA.	831					RNA splicing|mRNA processing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						ATCTGACCCCTAAAAAACACA	0.373												
TTN	7273	broad.mit.edu	37	2	179485716	179485716	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:179485715_179485715GT>G	uc021vsy.1	-	195	38143	c.37918_37918AC>C	c.(37918-37920)ctcfs	p.L12640fs	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.L6335fs|TTN_uc021vta.1_Frame_Shift_Del_p.L6268fs|TTN_uc021vtb.1_Frame_Shift_Del_p.L6143fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13567	Ig-like 84.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACGATCCTGAGTTTTTCTGAA	0.373												
TMEFF2	23671	broad.mit.edu	37	2	193049182	193049183	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:193049181_193049182CCA>C	uc002utc.3	-	2	704_705	c.310_311TGG>G	c.(310-312)ggcfs	p.G104fs	TMEFF2_uc002utd.1_Frame_Shift_Del_p.G104fs	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	Homo sapiens transmembrane protein with EGF-like and two follistatin-like domains 2 (TMEFF2), mRNA.	104	Kazal-like 1.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CCCATTGGAGCCACACACAGGC	0.470												
CD28	940	broad.mit.edu	37	2	204591543	204591543	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:204591542_204591542CA>C	uc002vah.4	+	1	461	c.239_239CA>C	c.(238-240)tcafs	p.S80fs	CD28_uc010zio.2_Intron|CD28_uc010ftx.3_Intron|CD28_uc002vaj.4_Intron|CD28_uc002vag.1_Intron	NM_006139	NP_006130	P10747	CD28_HUMAN	Homo sapiens CD28 molecule (CD28), transcript variant 1, mRNA.	80	Ig-like V-type.				T cell costimulation|cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	SH3/SH2 adaptor activity|coreceptor activity|protease binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						CAGGTTTACTCAAAAACGGGG	0.428												
PARD3B	117583	broad.mit.edu	37	2	205990401	205990401	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:205990400_205990400AG>A	uc002var.2	+	9	1580	c.1373_1373AG>A	c.(1372-1374)cagfs	p.Q458fs	PARD3B_uc010fub.2_Frame_Shift_Del_p.Q458fs|PARD3B_uc002vao.2_Frame_Shift_Del_p.Q458fs|PARD3B_uc002vap.2_Frame_Shift_Del_p.Q458fs|PARD3B_uc002vaq.2_Frame_Shift_Del_p.Q458fs	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	458	PDZ 2.				cell cycle|cell division	endomembrane system|tight junction		p.T457T(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AGCACCAAGCAGGGGGAGACA	0.493												
SPEG	10290	broad.mit.edu	37	2	220326765	220326765	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr2:220326764_220326764AC>A	uc010fwg.3	+	6	2601	c.2601_2601AC>A	c.(2599-2601)gcafs	p.A867fs	SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_Frame_Shift_Del_p.A75fs|SPEG_uc002vln.1_Frame_Shift_Del_p.A75fs|SPEG_uc002vlp.1_Frame_Shift_Del_p.A75fs|SPEG_uc002vlq.3_Frame_Shift_Del_p.A18fs	NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	867					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCTCCAAGGCACCCCCCACCT	0.652												
SETD5	55209	broad.mit.edu	37	3	9517295	9517296	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:9517294_9517295A>AC	uc003brt.3	+	22	4283_4284	c.3848_3849A>AC	c.(3847-3849)aacfs	p.N1283fs	SETD5_uc003bru.3_Frame_Shift_Ins_p.N1185fs|SETD5_uc003brv.3_Frame_Shift_Ins_p.N1172fs|SETD5_uc010hck.3_Frame_Shift_Ins_p.N765fs|SETD5_uc003brx.3_Frame_Shift_Ins_p.N952fs	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	1283	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGACCTGGAAACCCCCCCTCTC	0.550												
SGOL1	151648	broad.mit.edu	37	3	20215937	20215939	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:20215936_20215938CGTT>C	uc003cbu.3	-	5	1240_1242	c.1085_1087AACG>G	c.(1084-1089)aacgag>aGag	p.362_363NE>R	SGOL1_uc003cbw.3_Intron|SGOL1_uc003cbv.3_Intron|SGOL1_uc003cbt.3_Intron|SGOL1_uc010hfa.3_Intron|SGOL1_uc003cbs.3_In_Frame_Del_p.362_363NE>R|SGOL1_uc003cbr.3_Intron|SGOL1_uc003ccc.3_Intron|SGOL1_uc021wtx.1_Intron|SGOL1_uc021wty.1_Intron|SGOL1_uc003ccb.3_Intron|SGOL1_uc003cca.3_In_Frame_Del_p.362_363NE>R|SGOL1_uc003cby.3_Intron|SGOL1_uc003cbx.3_Intron|SGOL1_uc003cbz.3_In_Frame_Del_p.362_363NE>R	NM_001012410	NP_001186181	Q5FBB7	SGOL1_HUMAN	Homo sapiens shugoshin-like 1 (S. pombe) (SGOL1), transcript variant A2, mRNA.	362					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						ACTTCAGACTCGTTGTTTTCTTC	0.414												
SETD2	29072	broad.mit.edu	37	3	47084146	47084146	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:47084145_47084145AG>A	uc003cqv.3	-	17	7431	c.7345_7345CT>T	c.(7345-7347)tctfs	p.S2449fs	SETD2_uc003cqs.3_Frame_Shift_Del_p.S2382fs|SETD2_uc003cqr.3_5'UTR	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	2382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.P2380fs(2)|p.P1877fs(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTGGGAGGAGAGGGGGGCGGC	0.428			"""N, F, S, Mis"""		clear cell renal carcinoma							
KIF9	64147	broad.mit.edu	37	3	47316957	47316957	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:47316956_47316956CT>C	uc010hjp.3	-	3	722	c.118_118AG>G	c.(118-120)gacfs	p.D40fs	KIF9_uc003cqx.3_Frame_Shift_Del_p.D40fs|KIF9_uc003cqy.3_Frame_Shift_Del_p.D40fs|KIF9_uc011bat.1_Non-coding_Transcript|KIF9_uc011bau.1_Non-coding_Transcript|KIF9_uc003cra.4_Non-coding_Transcript	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN	Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.	40	Kinesin-motor.				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CTCCGAATGTCTTTTTTTAAG	0.363												
P4HTM	54681	broad.mit.edu	37	3	49043193	49043194	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:49043192_49043193G>GC	uc003cvh.3	+	6	1588_1589	c.1239_1240G>GC	c.(1237-1242)gtgcccfs	p.V413fs	P4HTM_uc003cvg.3_Intron|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	NM_177938	NP_808807	Q9NXG6	P4HTM_HUMAN	Homo sapiens prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) (P4HTM), transcript variant 3, mRNA.	350	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	L-ascorbic acid binding|calcium ion binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.L416fs*6(1)|p.L416fs*28(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CCTGCTCAGTGCCCCCCCTGCC	0.554												
BSN	8927	broad.mit.edu	37	3	49694496	49694497	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:49694495_49694496G>GC	uc003cxe.4	+	4	7620_7621	c.7506_7507G>GC	c.(7504-7509)tggcccfs	p.W2502fs		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2502					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCCAGTATTGGCCCCCCCTTAC	0.649												
RNF123	63891	broad.mit.edu	37	3	49738978	49738980	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:49738977_49738979TGGA>T	uc003cxh.3	+	15	1417_1419	c.1331_1333TGGA>T	c.(1330-1335)gtggag>gTag	p.E446del	RNF123_uc010hky.1_In_Frame_Del_p.E108del|RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	446						cytoplasm	ligase activity|protein binding|zinc ion binding	p.E445Q(2)		NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CCCCTGCGTGTGGAGGAGGCCGG	0.635											OREG0015570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RBM6	10180	broad.mit.edu	37	3	50005145	50005146	+	Frame_Shift_Ins	INS	-	-	G	rs141234052		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:50005144_50005145A>AG	uc003cyc.3	+	2	534_535	c.286_287A>AG	c.(286-288)aggfs	p.R96fs	RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_Intron|RBM6_uc003cyd.3_Intron|RBM6_uc011bdi.2_Intron|RBM6_uc003cye.3_Intron|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	96					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)		ACATGATTTCAGGGGGGGAGAT	0.495												
TLR9	54106	broad.mit.edu	37	3	52263948	52263948	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:52263947_52263947AG>A	uc003ddd.3	-	6	900	c.749_749CT>T	c.(748-750)cttfs	p.L250fs	TLR9_uc003ddb.3_Frame_Shift_Del_p.L54fs|TLR9_uc003ddc.1_5'Flank	NM_007284	NP_009215	Q9NR96	TLR9_HUMAN	Homo sapiens twinfilin, actin-binding protein, homolog 2 (Drosophila) (TWF2), mRNA.	0					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TACAGACTCAAGGGGGTCGCC	0.667												
ACTR8	93973	broad.mit.edu	37	3	53910110	53910110	+	Splice_Site	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:53910109_53910109TG>T	uc003dhd.3	-	7	880	c.779_splice	c.e7-1	p.G260_splice	ACTR8_uc003dhb.3_Splice_Site_p.G10_splice|ACTR8_uc003dhc.3_Splice_Site_p.G149_splice	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	Homo sapiens ARP8 actin-related protein 8 homolog (yeast) (ACTR8), mRNA.	260					DNA recombination|DNA repair|cell division|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		CCACAATCCCTGGGGGGGGAA	0.517												
EAF2	55840	broad.mit.edu	37	3	121573634	121573634	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:121573633_121573633GA>G	uc003een.3	+	2	400	c.301_301GA>G	c.(301-303)gaafs	p.E101fs	EAF2_uc003eeo.3_Intron	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	Homo sapiens ELL associated factor 2 (EAF2), mRNA.	101	Necessary for interaction with ELL.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		ATGTCGGCTAGAAAAACTCAG	0.294												
DZIP1L	199221	broad.mit.edu	37	3	137811279	137811279	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:137811278_137811278AT>A	uc003erq.3	-	4	1180	c.817_817AT>T	c.(817-819)ttafs	p.L273fs	DZIP1L_uc003err.1_Frame_Shift_Del_p.L273fs	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	273						intracellular	zinc ion binding	p.K272Q(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TCCCAAAATAATTTTTTTAGT	0.338												
DBR1	51163	broad.mit.edu	37	3	137880739	137880740	+	In_Frame_Ins	INS	-	-	CAT			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:137880738_137880739G>GCAT	uc003erv.3	-	7	1781_1782	c.1627_1628C>ATGC	c.(1627-1629)gca>ATGCa	p.A543M	DBR1_uc003eru.3_In_Frame_Ins_p.A492M|DBR1_uc003ert.3_In_Frame_Ins_p.A311M	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	543						nucleus	RNA lariat debranching enzyme activity|metal ion binding			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ATCTTAAGCTGCATCGTCATCA	0.386												
CHST2	9435	broad.mit.edu	37	3	142840892	142840892	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:142840891_142840891GC>G	uc003evm.3	+	1	2172	c.1233_1233GC>G	c.(1231-1233)cagfs	p.Q411fs	CHST2_uc021xex.1_Frame_Shift_Del_p.Q411fs	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.	411					N-acetylglucosamine metabolic process|inflammatory response|multicellular organismal development|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CAGCCCTGCAGCCCCCTGACT	0.622												
SMC4	10051	broad.mit.edu	37	3	160143940	160143941	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:160143939_160143940C>CA	uc003fdh.3	+	16	2669_2670	c.2556_2557C>CA	c.(2554-2559)gacaaafs	p.D852fs	IFT80_uc003fda.3_Intron|SMC4_uc003fdi.3_Frame_Shift_Ins_p.D827fs|SMC4_uc003fdj.3_Frame_Shift_Ins_p.D852fs|SMC4_uc010hwd.3_Frame_Shift_Ins_p.D852fs|SMC4_uc003fdl.3_Frame_Shift_Ins_p.D555fs	NM_001002800	NP_005487	Q9NTJ3	SMC4_HUMAN	Homo sapiens structural maintenance of chromosomes 4 (SMC4), transcript variant 2, mRNA.	852					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CAGCCCCTGACAAAAAAAAGCA	0.322												
B3GNT5	84002	broad.mit.edu	37	3	182987655	182987655	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:182987654_182987654GT>G	uc003flm.3	+	1	591	c.68_68GT>G	c.(67-69)tgtfs	p.C23fs	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003flk.3_Frame_Shift_Del_p.C23fs|B3GNT5_uc003fll.3_Frame_Shift_Del_p.C23fs|B3GNT5_uc021xic.1_Frame_Shift_Del_p.C23fs	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 (B3GNT5), mRNA.	23					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTTGCTACTTGTTTTTTAGCG	0.348												
PAK2	5062	broad.mit.edu	37	3	196537509	196537509	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr3:196537508_196537508GA>G	uc003fwy.4	+	7	1079	c.757_757GA>G	c.(757-759)gaafs	p.E253fs		NM_002577	NP_002568	Q13177	PAK2_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 (PAK2), mRNA.	253	Protein kinase.				T cell costimulation|T cell receptor signaling pathway|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|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			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	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)		TACAAGATATGAAAAAATTGG	0.333												
LYAR	55646	broad.mit.edu	37	4	4270270	4270271	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:4270269_4270270C>CT	uc011bvy.2	-	8	1135_1136	c.992_993G>AG	c.(991-993)aagfs	p.K331fs	LYAR_uc011bvx.2_Frame_Shift_Ins_p.K214fs|LYAR_uc003ght.3_Frame_Shift_Ins_p.K331fs	NM_001145725	NP_060286	Q9NX58	LYAR_HUMAN	Homo sapiens Ly1 antibody reactive homolog (mouse) (LYAR), transcript variant 2, mRNA.	331	Lys-rich.					nucleolus	metal ion binding|protein binding			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTTTCCTTAGCTTTTTGATGGT	0.327												
CHRNA9	55584	broad.mit.edu	37	4	40337892	40337892	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:40337891_40337891CT>C	uc003gva.1	+	1	128	c.112_112CT>C	c.(112-114)cttfs	p.L38fs		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	38					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	GTTTAATGACCTTTTTGAAGA	0.398												
PHOX2B	8929	broad.mit.edu	37	4	41748245	41748245	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:41748244_41748244CT>C	uc003gwf.4	-	2	885	c.525_525AG>G	c.(523-525)aagfs	p.K175fs		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA.	175					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						AAGAGTCAGACTTTTTGCCCG	0.672			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome			
FRYL	285527	broad.mit.edu	37	4	48544141	48544141	+	Splice_Site	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:48544140_48544140TG>T	uc003gyh.1	-	45	6198	c.5593_splice	c.e45-1	p.G1865_splice	FRYL_uc003gyg.1_Splice_Site_p.G561_splice|FRYL_uc003gyi.1_Splice_Site_p.G753_splice|FRYL_uc003gyj.1_Splice_Site_p.G160_splice	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	1865					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CACAAATCCCTGGGGGGAAAA	0.363												
REST	5978	broad.mit.edu	37	4	57777446	57777446	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:57777445_57777445GC>G	uc003hch.3	+	1	988	c.641_641GC>G	c.(640-642)ggcfs	p.G214fs	REST_uc003hci.3_Frame_Shift_Del_p.G214fs|REST_uc003hcj.1_Frame_Shift_Del_p.G214fs|REST_uc010ihf.3_5'UTR	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	214					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TTCTCCAAGGGCCCCATTCGC	0.498												
TSPAN5	10098	broad.mit.edu	37	4	99403314	99403314	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:99403313_99403313AG>A	uc003hub.3	-	3	728	c.293_293CT>T	c.(292-294)ctgfs	p.L98fs	TSPAN5_uc011cdz.2_Frame_Shift_Del_p.L27fs	NM_005723	NP_005714	P62079	TSN5_HUMAN	Homo sapiens tetraspanin 5 (TSPAN5), mRNA.	98						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		AATAATTCCCAGGAACACAGA	0.363												
INTS12	57117	broad.mit.edu	37	4	106621122	106621122	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:106621121_106621121CA>C	uc003hxw.3	-	2	300	c.42_42TG>G	c.(40-42)ttgfs	p.L14fs	INTS12_uc010ilr.3_Frame_Shift_Del_p.L14fs	NM_020395	NP_065128	Q96CB8	INT12_HUMAN	Homo sapiens integrator complex subunit 12 (INTS12), transcript variant 1, mRNA.	14					snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		CTAGTGCTTTCAAAAAAATGG	0.388												
ANK2	287	broad.mit.edu	37	4	114275575	114275575	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:114275574_114275574GA>G	uc003ibe.4	+	37	5900	c.5800_5800GA>G	c.(5800-5802)gaafs	p.E1934fs	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Frame_Shift_Del_p.E1949fs	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1901	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGGGAGAACAGAAAAACGCTT	0.542												
TRAM1L1	133022	broad.mit.edu	37	4	118005517	118005517	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:118005516_118005516CT>C	uc003ibv.4	-	0	1221	c.1034_1034AG>G	c.(1033-1035)agafs	p.R345fs		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	345					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GTTTTCTGTTCTTTTTTTAGA	0.388												
KIAA1109	84162	broad.mit.edu	37	4	123165029	123165029	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:123165028_123165028GA>G	uc003ieh.3	+	28	4807	c.4762_4762GA>G	c.(4762-4764)gaafs	p.E1588fs	KIAA1109_uc003iek.2_Frame_Shift_Del_p.E207fs	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	1588					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TACTCCATTGGAAAAAAAACT	0.383												
SCLT1	132320	broad.mit.edu	37	4	129864163	129864164	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:129864162_129864163C>CT	uc003igp.2	-	16	2126_2127	c.1620_1621G>AG	c.(1618-1623)aaagccfs	p.K540fs	SCLT1_uc003ign.2_Frame_Shift_Ins_p.K204fs|SCLT1_uc003igo.2_Frame_Shift_Ins_p.K150fs|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	540						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTTACTTTGGCTTTTTTTTGAG	0.356												
PCDH18	54510	broad.mit.edu	37	4	138453025	138453026	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:138453024_138453025A>AT	uc003ihe.4	-	0	605_606	c.218_219T>AT	c.(217-219)aatfs	p.N73fs	PCDH18_uc003ihf.4_Frame_Shift_Ins_p.N66fs|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Intron|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	73	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTAGAGGAGAATTTCCCCTCTG	0.426												
SORBS2	8470	broad.mit.edu	37	4	186515044	186515044	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:186515043_186515043TC>T	uc003iyg.3	-	18	3505	c.3473_3473GA>A	c.(3472-3474)gaafs	p.E1158fs	SORBS2_uc003iyh.3_Frame_Shift_Del_p.E768fs|SORBS2_uc011ckw.2_Frame_Shift_Del_p.E605fs|SORBS2_uc003iyi.3_Frame_Shift_Del_p.E675fs|SORBS2_uc011ckx.2_Frame_Shift_Del_p.E610fs|SORBS2_uc003iyk.3_Frame_Shift_Del_p.E588fs|SORBS2_uc003iym.3_Frame_Shift_Del_p.E1144fs|SORBS2_uc003iyl.3_Frame_Shift_Del_p.E1044fs|SORBS2_uc003iyn.1_Frame_Shift_Del_p.E635fs|SORBS2_uc011cku.2_Frame_Shift_Del_p.E436fs|SORBS2_uc011ckv.2_Frame_Shift_Del_p.E948fs|SORBS2_uc003iyd.3_Frame_Shift_Del_p.E743fs|SORBS2_uc003iye.3_Frame_Shift_Del_p.E617fs|SORBS2_uc003iya.3_Frame_Shift_Del_p.E564fs|SORBS2_uc003iyb.3_Frame_Shift_Del_p.E517fs|SORBS2_uc003iyc.3_Frame_Shift_Del_p.E497fs|SORBS2_uc003iyf.3_Frame_Shift_Del_p.E580fs	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	1044						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.E1044fs*8(2)|p.E605fs*8(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TACTTACGGTTCCCCCCCACC	0.353												
FAT1	2195	broad.mit.edu	37	4	187519161	187519162	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr4:187519160_187519161CAA>C	uc003izf.3	-	22	12410_12411	c.12222_12223TTG>G	c.(12220-12225)tttgttfs	p.F4074fs	FAT1_uc010isn.3_5'Flank	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	4074	EGF-like 3.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CACTGGCAAACAAAGCCTCCGT	0.416										HNSCC(5;0.00058)		
CLPTM1L	81037	broad.mit.edu	37	5	1325892	1325892	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:1325891_1325891CA>C	uc003jch.3	-	9	1167	c.1121_1121TG>G	c.(1120-1122)tggfs	p.W374fs	CLPTM1L_uc003jcg.3_Frame_Shift_Del_p.W205fs	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	Homo sapiens CLPTM1-like (CLPTM1L), mRNA.	374					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		CAGGCCTCTCCAAAAAATAGT	0.453												
MTRR	4552	broad.mit.edu	37	5	7875406	7875406	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:7875405_7875405TG>T	uc003jed.3	+	3	429	c.399_399TG>T	c.(397-399)aatfs	p.N133fs	MTRR_uc010itn.1_Non-coding_Transcript|MTRR_uc003jee.4_Frame_Shift_Del_p.N106fs|MTRR_uc003jef.4_Non-coding_Transcript|MTRR_uc003jeg.4_Non-coding_Transcript|MTRR_uc010ito.3_Non-coding_Transcript	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR), transcript variant 2, mRNA.	133	Flavodoxin-like.				methionine biosynthetic process	cytosol	FMN binding|NADP binding|[methionine synthase] reductase activity|flavin adenine dinucleotide binding|iron ion binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	ACTTTTGCAATGGGGGGAAGA	0.408												
MOCS2	4338	broad.mit.edu	37	5	52402940	52402940	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	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												
NDUFS4	4724	broad.mit.edu	37	5	52954446	52954446	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:52954445_52954445GA>G	uc003jpe.2	+	3	443	c.415_415GA>G	c.(415-417)gaafs	p.E139fs		NM_002495	NP_002486	O43181	NDUS4_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) (NDUFS4), nuclear gene encoding mitochondrial protein, mRNA.	139					brain development|cAMP-mediated signaling|mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|positive regulation of fibroblast proliferation|reactive oxygen species metabolic process|regulation of protein phosphorylation|response to cAMP|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(3)	10		Lung NSC(810;8.27e-05)|Breast(144;0.0848)			NADH(DB00157)	TTCCTTTGCAGAAAAAAATGG	0.303												
C5orf44	80006	broad.mit.edu	37	5	64946675	64946676	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:64946674_64946675G>GA	uc003jua.4	+	5	796_797	c.466_467G>GA	c.(466-468)gaafs	p.E156fs	C5orf44_uc003jtz.4_Frame_Shift_Ins_p.E156fs|C5orf44_uc010iwv.3_Frame_Shift_Ins_p.E156fs|C5orf44_uc003juc.4_Frame_Shift_Ins_p.E156fs	NM_001093755	NP_001087224	A5PLN9	CE044_HUMAN	Homo sapiens chromosome 5 open reading frame 44 (C5orf44), transcript variant 1, mRNA.	156										kidney(4)|large_intestine(2)|lung(1)|ovary(1)	8						TCAGGCTGGAGAAAAAATGTAT	0.297												
ZFYVE16	9765	broad.mit.edu	37	5	79773189	79773189	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:79773188_79773188CT>C	uc003kgr.4	+	18	4914	c.4612_4612CT>C	c.(4612-4614)cttfs	p.L1538fs	ZFYVE16_uc003kgq.4_Frame_Shift_Del_p.L1538fs|ZFYVE16_uc003kgs.4_Frame_Shift_Del_p.L1538fs|ZFYVE16_uc003kgt.4_Frame_Shift_Del_p.L626fs|ZFYVE16_uc003kgu.4_Frame_Shift_Del_p.L290fs	NM_001105251	NP_055548	Q7Z3T8	ZFY16_HUMAN	Homo sapiens zinc finger, FYVE domain containing 16 (ZFYVE16), transcript variant 2, mRNA.	1538					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TATAGAACATCTTTTTTAGTG	0.328												
YTHDC2	64848	broad.mit.edu	37	5	112889545	112889545	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:112889544_112889544GA>G	uc003kqn.3	+	14	2247	c.2045_2045GA>G	c.(2044-2046)cgafs	p.R682fs	YTHDC2_uc010jce.2_Frame_Shift_Del_p.R682fs|YTHDC2_uc010jcf.2_Frame_Shift_Del_p.R382fs	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.	682	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GCAGGTGTTCGAAAAATAGTA	0.284												
GFRA3	2676	broad.mit.edu	37	5	137593643	137593643	+	Splice_Site	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:137593642_137593642TG>T	uc003lcn.3	-	4	613	c.473_splice	c.e4-1	p.D158_splice	GFRA3_uc003lco.3_Splice_Site_p.D127_splice	NM_001496	NP_001487	O60609	GFRA3_HUMAN	Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA.	158					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGTCTGAGTCTGGGGGGAAAG	0.617												
PCDH12	51294	broad.mit.edu	37	5	141336748	141336748	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:141336747_141336747TG>T	uc003llx.3	-	0	1881	c.670_670CA>A	c.(670-672)aagfs	p.K224fs		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	224	Cadherin 2.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTC	0.483												
RNF145	153830	broad.mit.edu	37	5	158596066	158596066	+	Splice_Site	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr5:158596065_158596065TA>T	uc010jiq.2	-	8	1179	c.1029_splice	c.e8-1	p.R343_splice	RNF145_uc011ddy.2_Splice_Site_p.R327_splice|RNF145_uc003lxo.2_Splice_Site_p.R341_splice|RNF145_uc011ddz.2_Splice_Site_p.R330_splice|RNF145_uc003lxp.3_Splice_Site_p.R313_splice|RNF145_uc011dea.2_Intron	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	313						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCATGCCCCTAAAAAAAGCA	0.363												
CDYL	9425	broad.mit.edu	37	6	4716061	4716061	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:4716060_4716060GA>G	uc003mwi.3	+	1	179	c.48_48GA>G	c.(46-48)aagfs	p.K16fs		NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	Homo sapiens chromodomain protein, Y-like (CDYL), transcript variant 5, mRNA.	16					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		AAAGCAGGAAGAAAAACTGGC	0.458												
PRRT1	80863	broad.mit.edu	37	6	32119591	32119591	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:32119590_32119590CT>C	uc003nzu.3	-	2	280	c.15_15AG>G	c.(13-15)aagfs	p.K5fs	PRRT1_uc003nzs.3_5'UTR|PRRT1_uc003nzt.3_Frame_Shift_Del_p.K5fs|PPT2_uc003nzw.3_5'Flank|PPT2_uc003nzx.3_5'Flank|PPT2_uc003nzz.3_5'Flank|PPT2_uc021yvl.1_5'Flank|EGFL8_uc003nzy.2_5'Flank|PPT2_uc010jtu.1_5'Flank			Q99946	PRRT1_HUMAN	Homo sapiens proline-rich transmembrane protein 1 (PRRT1), mRNA.	5					response to biotic stimulus	integral to membrane		p.E4G(1)		breast(2)|endometrium(1)|kidney(1)|lung(2)	6						TTTTACCTGACTTTTCGGATG	0.632												
TAF11	6882	broad.mit.edu	37	6	34846381	34846381	+	Frame_Shift_Del	DEL	T	T	-	rs139408667		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:34846380_34846380AT>A	uc003ojw.1	-	4	708	c.623_623AT>T	c.(622-624)atcfs	p.I208fs	UHRF1BP1_uc010jvm.2_Intron|TAF11_uc011dsr.1_3'UTR	NM_005643	NP_005634	Q15544	TAF11_HUMAN	Homo sapiens TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa (TAF11), mRNA.	208					positive regulation by host of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein N-terminus binding|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding	p.I208fs*>4(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6						GAAGAAGATGATTTTTTTGTG	0.418												
IBTK	25998	broad.mit.edu	37	6	82891643	82891644	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:82891642_82891643C>CT	uc003pjl.1	-	25	4205_4206	c.3678_3679G>AG	c.(3676-3681)aaagttfs	p.K1226fs	IBTK_uc011dyu.1_Frame_Shift_Ins_p.K177fs|IBTK_uc011dyv.1_Frame_Shift_Ins_p.K1211fs|IBTK_uc011dyw.1_Frame_Shift_Ins_p.K1025fs|IBTK_uc010kbi.1_Frame_Shift_Ins_p.K920fs	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	1226					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TTAAAAGAAACTTTTTTGACAT	0.322												
ASCC3	10973	broad.mit.edu	37	6	101127558	101127558	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:101127557_101127557AT>A	uc003pqk.3	-	13	2552	c.2223_2223AT>T	c.(2221-2223)aatfs	p.N741fs	ASCC3_uc011eai.1_Frame_Shift_Del_p.N643fs	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	741	Helicase C-terminal 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TATGGCCACAATTTTTTGCTC	0.363												
GRIK2	2898	broad.mit.edu	37	6	102503432	102503433	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:102503431_102503432C>CA	uc003pqp.4	+	14	2831_2832	c.2538_2539C>CA	c.(2536-2541)tccaaafs	p.S846fs	GRIK2_uc010kcw.3_Frame_Shift_Ins_p.S846fs|GRIK2_uc003pqo.4_Frame_Shift_Ins_p.S846fs|GRIK2_uc021zdk.1_Frame_Shift_Ins_p.S659fs|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	846					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.N849fs*12(1)|p.N849fs*14(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TATACAAATCCAAAAAAAACGC	0.351												
PREP	5550	broad.mit.edu	37	6	105726144	105726144	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:105726143_105726143AG>A	uc003prc.3	-	14	2242	c.2009_2009CT>T	c.(2008-2010)ctgfs	p.L670fs		NM_002726	NP_002717	P48147	PPCE_HUMAN	Homo sapiens prolyl endopeptidase (PREP), mRNA.	670					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GTGGATAAGCAGGGGGTTGCT	0.597												
ATG5	9474	broad.mit.edu	37	6	106634539	106634539	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:106634538_106634538CT>C	uc003prf.3	-	7	1058	c.705_705AG>G	c.(703-705)aagfs	p.K235fs	ATG5_uc010kdb.3_3'UTR|ATG5_uc003prg.3_Frame_Shift_Del_p.K157fs|ATG5_uc010kdc.3_3'UTR	NM_004849	NP_004840	Q9H1Y0	ATG5_HUMAN	Homo sapiens ATG5 autophagy related 5 homolog (S. cerevisiae) (ATG5), mRNA.	235					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		TCACTTGATTCTTTTTTTCCC	0.368												
PHACTR2	9749	broad.mit.edu	37	6	144086414	144086415	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr6:144086413_144086414C>CA	uc010khi.3	+	5	909_910	c.710_711C>CA	c.(709-711)tcafs	p.S237fs	PHACTR2_uc003qjq.4_Frame_Shift_Ins_p.S226fs|PHACTR2_uc010khh.3_Frame_Shift_Ins_p.S146fs|PHACTR2_uc003qjr.4_Frame_Shift_Ins_p.S157fs	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	226							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TCCTCTCATTCAAAAAAAACAA	0.396												
DNAH11	8701	broad.mit.edu	37	7	21639564	21639564	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:21639563_21639563GT>G	uc003svc.3	+	14	2857	c.2826_2826GT>G	c.(2824-2826)ccgfs	p.P942fs		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	942	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AACCGGCACCGTTTTTTCAAG	0.408									Kartagener syndrome			
NOD1	10392	broad.mit.edu	37	7	30491486	30491486	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:30491485_30491485GA>G	uc003tav.3	-	5	2071	c.1548_1548TC>C	c.(1546-1548)ttcfs	p.F516fs		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	516	NACHT.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GGGTGAGGTGGAAAAACTCAT	0.632												
GTF2I	2969	broad.mit.edu	37	7	74114939	74114939	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:74114938_74114938CT>C	uc003uau.3	+	5	930	c.560_560CT>C	c.(559-561)cctfs	p.P187fs	GTF2I_uc003uat.3_Frame_Shift_Del_p.P187fs|GTF2I_uc003uav.3_Frame_Shift_Del_p.P187fs|GTF2I_uc003uaw.3_Frame_Shift_Del_p.P187fs|GTF2I_uc003uay.3_Frame_Shift_Del_p.P187fs|GTF2I_uc003uax.3_Frame_Shift_Del_p.P187fs|BC070376_uc003uaz.3_Intron	NM_032999	NP_127492	P78347	GTF2I_HUMAN	Homo sapiens general transcription factor IIi (GTF2I), transcript variant 1, mRNA.	187					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						tAATGCAGACCTTTTTTAGAG	0.313												
MAGI2	9863	broad.mit.edu	37	7	77764526	77764527	+	Splice_Site	INS	-	-	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:77764525_77764526T>TA	uc003ugx.3	-	17	3100	c.2846_splice	c.e17-1	p.T949_splice	MAGI2_uc003ugy.3_Splice_Site_p.T935_splice|MAGI2_uc010ldx.1_Splice_Site_p.T542_splice	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	949	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGGGCACAGCTAAAAAAACCCC	0.460												
PCLO	27445	broad.mit.edu	37	7	82390038	82390038	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:82390037_82390037GT>G	uc003uhx.2	-	23	15495	c.15206_15206AC>C	c.(15205-15207)acafs	p.T5069fs		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4992					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCATACTCTTGTTTTTTTCTT	0.328												
PCLO	27445	broad.mit.edu	37	7	82582944	82582944	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:82582943_82582943CT>C	uc003uhx.2	-	4	7615	c.7326_7326AG>G	c.(7324-7326)aagfs	p.K2442fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.K2442fs|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2373	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.K2442N(3)|p.K2373N(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAACTGTTAACTTTTTTTTAG	0.493												
SAMD9L	219285	broad.mit.edu	37	7	92761061	92761061	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:92761060_92761060GT>G	uc003umh.1	-	4	5441	c.4225_4225AC>C	c.(4225-4227)caafs	p.Q1409fs	SAMD9L_uc003umj.1_Frame_Shift_Del_p.Q1409fs|SAMD9L_uc003umi.1_Frame_Shift_Del_p.Q1409fs|SAMD9L_uc010lfb.1_Frame_Shift_Del_p.Q1409fs|SAMD9L_uc003umk.1_Frame_Shift_Del_p.Q1409fs|SAMD9L_uc010lfc.1_Frame_Shift_Del_p.Q1409fs|SAMD9L_uc010lfd.1_Frame_Shift_Del_p.Q1409fs|SAMD9L_uc022ahh.1_Frame_Shift_Del_p.Q1409fs	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1409										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTCGGAGTTGTTTTTTTAGC	0.403												
SLC12A9	56996	broad.mit.edu	37	7	100452322	100452323	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:100452321_100452322CCT>C	uc003uwp.3	+	2	403_404	c.261_262CCT>C	c.(259-264)gtcctcfs	p.V87fs	SLC12A9_uc003uwo.1_Intron|SLC12A9_uc003uwq.3_Intron|SLC12A9_uc011kki.2_Intron|SLC12A9_uc003uwr.3_5'Flank|SLC12A9_uc003uws.3_5'Flank|SLC12A9_uc003uwt.3_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	87						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CACTCACCGTCCTCTCTGTCTG	0.619												
PIK3CG	5294	broad.mit.edu	37	7	106519994	106519994	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:106519993_106519993GA>G	uc003vdv.4	+	5	2506	c.2421_2421GA>G	c.(2419-2421)aagfs	p.K807fs	PIK3CG_uc003vdu.3_Frame_Shift_Del_p.K807fs|PIK3CG_uc003vdw.3_Frame_Shift_Del_p.K807fs	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	807					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.S806F(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGGCCTCCAAGAAAAAACCAC	0.378												
ZC3HAV1	56829	broad.mit.edu	37	7	138758692	138758694	+	In_Frame_Del	DEL	AGA	AGA	-	rs142594623		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr7:138758691_138758693CAGA>C	uc003vun.3	-	6	2169_2171	c.1781_1783TCTG>G	c.(1780-1785)tctgtc>tGtc	p.594_595SV>C	ZC3HAV1_uc003vuo.3_In_Frame_Del_p.55_56SV>C|ZC3HAV1_uc003vup.3_In_Frame_Del_p.594_595SV>C	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	594	WWE.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GGCTTGGTGACAGAAGAAGGAGT	0.438												
NAT1	9	broad.mit.edu	37	8	18079720	18079720	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:18079719_18079719AT>A	uc010ltd.3	+	4	530	c.163_163AT>A	c.(163-165)attfs	p.I55fs	NAT1_uc003wyt.3_Frame_Shift_Del_p.I117fs|NAT1_uc003wyu.3_Frame_Shift_Del_p.I55fs|NAT1_uc003wyv.3_Frame_Shift_Del_p.I55fs|NAT1_uc010ltc.3_Frame_Shift_Del_p.I55fs|NAT1_uc003wys.3_Frame_Shift_Del_p.I117fs|NAT1_uc003wyr.3_Frame_Shift_Del_p.I55fs|NAT1_uc003wyq.3_Frame_Shift_Del_p.I55fs|NAT1_uc011kyl.2_Frame_Shift_Del_p.I55fs	NM_001160179	NP_001153651	P18440	ARY1_HUMAN	Homo sapiens N-acetyltransferase 1 (arylamine N-acetyltransferase) (NAT1), transcript variant 9, mRNA.	55					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		CTTAGAGGCCATTTTTGATCA	0.458												
SLC39A14	23516	broad.mit.edu	37	8	22273344	22273344	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:22273343_22273343AG>A	uc003xbq.4	+	5	987	c.812_812AG>A	c.(811-813)gagfs	p.E271fs	SLC39A14_uc011kzg.2_Frame_Shift_Del_p.E271fs|SLC39A14_uc003xbp.4_Frame_Shift_Del_p.E271fs|SLC39A14_uc011kzh.2_Frame_Shift_Del_p.E271fs	NM_001128431	NP_001128625	Q15043	S39AE_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 14 (SLC39A14), transcript variant 1, mRNA.	271						Golgi apparatus|endoplasmic reticulum|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		GACCAGGAGGAGGGGGTGATG	0.582												
CHMP7	91782	broad.mit.edu	37	8	23106785	23106785	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:23106784_23106784TG>T	uc003xdc.2	+	2	1009	c.361_361TG>T	c.(361-363)tggfs	p.W121fs	CHMP7_uc011kzs.1_Intron|CHMP7_uc003xdd.2_Frame_Shift_Del_p.W11fs	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN	Homo sapiens charged multivesicular body protein 7 (CHMP7), mRNA.	121					cellular membrane organization|late endosome to vacuole transport	ESCRT III complex|cytosol	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		CTGGATCTCCTGGGGGGTTGG	0.542												
ADAM28	10863	broad.mit.edu	37	8	24167473	24167474	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:24167472_24167473G>GA	uc003xdy.3	+	2	299_300	c.216_217G>GA	c.(214-219)ttgaaafs	p.L72fs	ADAM28_uc003xdx.3_Frame_Shift_Ins_p.L72fs|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	72					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.N75fs*15(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGCTTTATTTGAAAAAAAACAA	0.332												
KCTD9	54793	broad.mit.edu	37	8	25287444	25287445	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:25287443_25287444CCT>C	uc003xeo.3	-	11	1321_1322	c.1099_1100AGG>G	c.(1099-1101)gggfs	p.G367fs	DOCK5_uc003xek.3_Intron|KCTD9_uc011lad.2_Non-coding_Transcript	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 9 (KCTD9), mRNA.	367	Pentapeptide repeat 3.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		CACGTTGGACCCTCTCAGGTTG	0.411												
RAB11FIP1	80223	broad.mit.edu	37	8	37756850	37756850	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:37756849_37756849GC>G	uc003xkm.2	-	0	167	c.111_111GC>C	c.(109-111)ggcfs	p.G37fs	RAB11FIP1_uc003xkn.2_Frame_Shift_Del_p.G37fs	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	37	C2.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	p.T38fs*90(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CGTCGCTCGTGCCCCCGGGGC	0.751												
CHRNB3	1142	broad.mit.edu	37	8	42587571	42587571	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:42587570_42587570GA>G	uc003xpi.1	+	4	1248	c.1120_1120GA>G	c.(1120-1122)gaafs	p.E374fs		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	374					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CAAAGTCCTCGAAAAAAAGAA	0.388												
SNAI2	6591	broad.mit.edu	37	8	49831507	49831507	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:49831506_49831506CA>C	uc003xqp.3	-	2	842	c.667_667TG>G	c.(667-669)gcafs	p.A223fs		NM_003068	NP_003059	O43623	SNAI2_HUMAN	Homo sapiens snail homolog 2 (Drosophila) (SNAI2), mRNA.	223					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				GACCTGTCTGCAAATGCTCTG	0.448												
RP1	6101	broad.mit.edu	37	8	55539295	55539295	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:55539294_55539294GT>G	uc003xsd.1	+	3	3000	c.2852_2852GT>G	c.(2851-2853)agtfs	p.S951fs	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	951					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			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		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)			AGCAATAATAGTTTTTCAGGG	0.328												
PLAG1	5324	broad.mit.edu	37	8	57079754	57079754	+	Frame_Shift_Del	DEL	T	T	-	rs141930943		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:57079753_57079753CT>C	uc003xsq.4	-	2	1003	c.552_552AG>G	c.(550-552)aagfs	p.K184fs	PLAG1_uc003xsr.4_Frame_Shift_Del_p.K184fs|PLAG1_uc010lyi.3_Frame_Shift_Del_p.K184fs|PLAG1_uc010lyj.3_Frame_Shift_Del_p.K102fs|PLAG1_uc022aur.1_Frame_Shift_Del_p.K102fs	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	184	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CGCACTGGTGCTTTTTTTCTT	0.483			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma							
TRPS1	7227	broad.mit.edu	37	8	116599323	116599323	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:116599322_116599322GC>G	uc003yny.3	-	4	3184	c.2606_2606GC>C	c.(2605-2607)gcgfs	p.A869fs	TRPS1_uc011lhy.2_Frame_Shift_Del_p.A860fs|TRPS1_uc003ynz.3_Frame_Shift_Del_p.A856fs|TRPS1_uc010mcy.3_Frame_Shift_Del_p.A856fs	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	856					NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|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			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	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)			GCCAGCTGGCGCCCCCTGCAG	0.577									Langer-Giedion syndrome			
GSDMC	56169	broad.mit.edu	37	8	130764140	130764140	+	Splice_Site	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:130764139_130764139TA>T	uc003ysr.3	-	9	1769	c.887_splice	c.e9-1	p.K296_splice		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	296						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GTTCGTATTCTAAAAAAAGAA	0.473												
COL22A1	169044	broad.mit.edu	37	8	139661990	139661990	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:139661989_139661989TG>T	uc003yvd.3	-	45	3813	c.3366_3366CA>A	c.(3364-3366)ccafs	p.P1122fs	COL22A1_uc011ljo.2_Frame_Shift_Del_p.P402fs	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1122	Collagen-like 10.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAGGGAGGCCTGGGGGGCCAG	0.512										HNSCC(7;0.00092)		
LY6H	4062	broad.mit.edu	37	8	144239712	144239712	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:144239711_144239711GC>G	uc003yxt.3	-	2	1240	c.493_493GC>C	c.(493-495)ctcfs	p.L165fs	LY6H_uc011lka.2_Frame_Shift_Del_p.L127fs|LY6H_uc011lkb.2_Frame_Shift_Del_p.L148fs|LY6H_uc011lkc.2_Frame_Shift_Del_p.L148fs			O94772	LY6H_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus H (LY6H), transcript variant 3, mRNA.	127					nervous system development|organ morphogenesis	anchored to membrane|plasma membrane				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTGAGCAGGAGCCCCCCGGCC	0.672												
MAPK15	225689	broad.mit.edu	37	8	144804319	144804319	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr8:144804318_144804318AG>A	uc003yzj.3	+	13	1573	c.1532_1532AG>A	c.(1531-1533)cagfs	p.Q511fs		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	511					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGGGTGCCCAGGGGGGTGCC	0.667												
LINGO2	158038	broad.mit.edu	37	9	27948946	27948946	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:27948945_27948945GT>G	uc003zqv.1	-	6	2375	c.1725_1725AC>C	c.(1723-1725)aacfs	p.N575fs	LINGO2_uc010mjf.1_Frame_Shift_Del_p.N575fs|LINGO2_uc003zqu.1_Frame_Shift_Del_p.N575fs|LINGO2_uc022bfc.1_Frame_Shift_Del_p.N575fs	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	575						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GGTCAATGCTGTTTTTGTGCT	0.463												
GNAQ	2776	broad.mit.edu	37	9	80537249	80537250	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:80537248_80537249ACT>A	uc004akw.3	-	1	217_218	c.149_150AGT>T	c.(148-150)agtfs	p.S50fs		NM_002072	NP_002063	P50148	GNAQ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), q polypeptide (GNAQ), mRNA.	50					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						TACTCTTGCCACTCTCTCCTGT	0.436			Mis		uveal melanoma							
TLE1	7088	broad.mit.edu	37	9	84225192	84225192	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:84225191_84225191AG>A	uc004alz.3	-	13	1746	c.1305_1305CT>T	c.(1303-1305)cctfs	p.P435fs	TLE1_uc004aly.3_Frame_Shift_Del_p.P425fs|TLE1_uc011lsr.2_Frame_Shift_Del_p.P410fs|TLE1_uc004ama.1_Frame_Shift_Del_p.P424fs	NM_005077	NP_005068	Q04724	TLE1_HUMAN	Homo sapiens transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) (TLE1), mRNA.	425	Pro/Ser-rich.				Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CTCTCATGTGAGGGGGAGGAT	0.448												
ZCCHC6	79670	broad.mit.edu	37	9	88937823	88937823	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:88937822_88937822TA>T	uc004aou.3	-	12	2981	c.2843_2843TA>A	c.(2842-2844)tatfs	p.Y948fs	ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Frame_Shift_Del_p.Y948fs|ZCCHC6_uc004aot.3_Frame_Shift_Del_p.Y825fs|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript	NM_001185059	NP_078893	Q5VYS8	TUT7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA.	948					RNA 3'-end processing		RNA uridylyltransferase activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						ACTGAATTCATAAAAAAAATC	0.333												
SMC2	10592	broad.mit.edu	37	9	106889604	106889604	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:106889603_106889603CA>C	uc004bbv.3	+	19	2920	c.2632_2632CA>C	c.(2632-2634)caafs	p.Q878fs	SMC2_uc004bbw.3_Frame_Shift_Del_p.Q878fs|SMC2_uc011lvl.2_Frame_Shift_Del_p.Q878fs|SMC2_uc004bbx.3_Frame_Shift_Del_p.Q878fs|SMC2_uc004bby.3_Non-coding_Transcript	NM_001042551	NP_006435	O95347	SMC2_HUMAN	Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 2, mRNA.	878					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GGTGACCAAGCAAAAAGAGGT	0.308												
HSPA5	3309	broad.mit.edu	37	9	128001567	128001567	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:128001566_128001566TC>T	uc004bpn.3	-	4	911	c.650_650GA>A	c.(649-651)gagfs	p.E217fs		NM_005347	NP_005338	P11021	GRP78_HUMAN	Homo sapiens heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) (HSPA5), mRNA.	217					ER-associated protein catabolic process|anti-apoptosis|cellular response to glucose starvation|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	GATGTTCTTCTCCCCCTCCCT	0.458										Prostate(1;0.17)		
TTF1	7270	broad.mit.edu	37	9	135277202	135277202	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	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												
SURF1	6834	broad.mit.edu	37	9	136221754	136221755	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:136221753_136221754C>CT	uc004cdh.1	-	2	197_198	c.165_166G>AG	c.(163-168)aaagcgfs	p.K55fs	SURF2_uc004cdi.2_5'Flank	NM_003172	NP_003163	Q15526	SURF1_HUMAN	Homo sapiens surfeit 1 (SURF1), nuclear gene encoding mitochondrial protein, mRNA.	55					aerobic respiration|respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			breast(2)|endometrium(1)|ovary(2)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;5.06e-07)|Epithelial(140;4.25e-06)|all cancers(34;3.93e-05)		TCATCTTCCGCTTTTGTGGCAG	0.564												
WDR5	11091	broad.mit.edu	37	9	137023052	137023054	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:137023051_137023053ACAT>A	uc004cey.3	+	13	1112_1114	c.941_943ACAT>A	c.(940-945)aacatc>aAtc	p.I316del	WDR5_uc004cez.3_In_Frame_Del_p.I316del	NM_017588	NP_438172	P61964	WDR5_HUMAN	Homo sapiens WD repeat domain 5 (WDR5), transcript variant 1, mRNA.	316					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		CCAACAGAAAACATCATCGCCTC	0.517												
SNAPC4	6621	broad.mit.edu	37	9	139275256	139275257	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:139275255_139275256CCT>C	uc004chh.3	-	18	2444_2445	c.2435_2436AGG>G	c.(2434-2436)aggfs	p.R812fs		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	812					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GCAGGGCCTTCCTCTCTCGGAC	0.619												
DPP7	29952	broad.mit.edu	37	9	140006327	140006327	+	Splice_Site	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr9:140006326_140006326AC>A	uc004clh.3	-	10	1237	c.1207_splice	c.e10+1	p.D403_splice		NM_013379	NP_037511	Q9UHL4	DPP2_HUMAN	Homo sapiens dipeptidyl-peptidase 7 (DPP7), mRNA.	403						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity	p.D403fs*1(1)		endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		CAGCCTTACCACCCCCCCAGA	0.701												
DIP2C	22982	broad.mit.edu	37	10	412274	412275	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:412273_412274G>GCA	uc001ifp.3	-	18	2299_2300	c.2209_2210C>TGC	c.(2209-2211)gcafs	p.A737fs	DIP2C_uc009xhi.1_Frame_Shift_Ins_p.A123fs|DIP2C_uc010pzz.1_Frame_Shift_Ins_p.A58fs	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	737						nucleus	catalytic activity|transcription factor binding	p.A737fs*15(2)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGTCGCAACTGCACACACACAC	0.545												
LARP4B	23185	broad.mit.edu	37	10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:890938_890938GT>G	uc001ifs.1	-	4	529	c.488_488AC>C	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(1)		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						GAATTCCAATGTTTTTTTAAG	0.353												
NMT2	9397	broad.mit.edu	37	10	15183500	15183500	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:15183499_15183499CT>C	uc001inz.1	-	1	252	c.168_168AG>G	c.(166-168)aagfs	p.K56fs	NMT2_uc001ioa.1_Frame_Shift_Del_p.R29fs|NMT2_uc010qbz.1_5'UTR	NM_004808	NP_004799	O60551	NMT2_HUMAN	Homo sapiens N-myristoyltransferase 2 (NMT2), mRNA.	56	Poly-Lys.				N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TTGGTttctccttttttctct	0.413												
MRC1	4360	broad.mit.edu	37	10	17865318	17865318	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:17865317_17865317CA>C	uc001ipk.3	+	1	409	c.306_306CA>C	c.(304-306)tgcfs	p.C102fs		NM_002438	NP_002429	P22897	MRC1_HUMAN	Homo sapiens mannose receptor, C type 1 (MRC1), mRNA.	102	Ricin B-type lectin.				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity			breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	6						AATGGGAGTGCAAAAATGACA	0.383												
H2AFY2	55506	broad.mit.edu	37	10	71851665	71851665	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:71851664_71851664AG>A	uc001jqm.3	+	3	890	c.431_431AG>A	c.(430-432)aagfs	p.K144fs		NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	Homo sapiens H2A histone family, member Y2 (H2AFY2), mRNA.	144	Lys-rich.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						TCAGGCAAGAAGGGGGGGAAG	0.592												
ADK	132	broad.mit.edu	37	10	76153932	76153932	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:76153931_76153931AT>A	uc001jwi.3	+	4	400	c.306_306AT>A	c.(304-306)acafs	p.T102fs	ADK_uc010qlb.2_Frame_Shift_Del_p.T102fs|ADK_uc001jwj.3_Frame_Shift_Del_p.T85fs|ADK_uc010qlc.2_Frame_Shift_Del_p.T67fs	NM_006721	NP_006712	P55263	ADK_HUMAN	Homo sapiens adenosine kinase (ADK), transcript variant 2, mRNA.	102					purine base metabolic process|purine ribonucleoside salvage	cytosol	ATP binding|adenosine kinase activity|metal ion binding|phosphotransferase activity, alcohol group as acceptor			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	AAGCAGCAACATTTTTTGGAT	0.393												
STAMBPL1	57559	broad.mit.edu	37	10	90682146	90682147	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:90682145_90682146T>TA	uc001kfk.3	+	9	1629_1630	c.1206_1207T>TA	c.(1204-1209)tgtaaafs	p.C402fs	STAMBPL1_uc010qmx.1_Frame_Shift_Ins_p.C402fs|STAMBPL1_uc009xto.3_Non-coding_Transcript|STAMBPL1_uc001kfl.3_Frame_Shift_Ins_p.C402fs|STAMBPL1_uc001kfn.3_Frame_Shift_Ins_p.C236fs	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN	Homo sapiens STAM binding protein-like 1 (STAMBPL1), mRNA.	402							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TTTCTGCTTGTAAAAAAAAGGG	0.426												
SORCS1	114815	broad.mit.edu	37	10	108489875	108489875	+	Splice_Site	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr10:108489874_108489874TA>T	uc001kyl.3	-	6	1142	c.960_splice	c.e6-1	p.W320_splice	SORCS1_uc021pxw.1_Splice_Site_p.W320_splice|SORCS1_uc009xxs.3_Splice_Site_p.W320_splice|SORCS1_uc001kym.3_Splice_Site_p.W320_splice|SORCS1_uc001kyn.2_Splice_Site_p.W320_splice|SORCS1_uc001kyo.3_Splice_Site_p.W320_splice	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	320						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ATCACAGACCTAAAAAATGGA	0.423												
B4GALNT4	338707	broad.mit.edu	37	11	375700	375700	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:375699_375699TG>T	uc001lpb.3	+	9	920	c.911_911TG>T	c.(910-912)gtgfs	p.V304fs		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	304						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		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;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCAGCCACGTGGGGGGGCGT	0.672												
SCUBE2	57758	broad.mit.edu	37	11	9048996	9048996	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:9048995_9048995TG>T	uc001mhi.2	-	18	2521	c.2446_2446CA>A	c.(2446-2448)aagfs	p.K816fs	SCUBE2_uc021qdk.1_Frame_Shift_Del_p.K292fs|SCUBE2_uc001mhj.2_Intron	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.	844	CUB.					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		ATGCGGCGCTTGGGGGGTGGG	0.567												
CSNK2A1	1457	broad.mit.edu	37	11	11373969	11373969	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:11373968_11373968GA>G	uc001mjp.3	-	0	937	c.699_699TC>C	c.(697-699)ttcfs	p.F233fs	GALNTL4_uc001mjo.2_Intron	NM_177559	NP_808227	P68400	CSK21_HUMAN	Homo sapiens casein kinase 2, alpha 1 polypeptide (CSNK2A1), transcript variant 1, mRNA.	233	Protein kinase.				Wnt receptor signaling pathway|axon guidance	NuRD complex|Sin3 complex|cytosol|plasma membrane	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			CACGTCCATGGAAAAATGGCT	0.388												
KBTBD4	55709	broad.mit.edu	37	11	47594883	47594884	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:47594882_47594883T>TC	uc001nfx.3	-	3	1327_1328	c.1156_1157A>GA	c.(1156-1158)gagfs	p.E386fs	PTPMT1_uc001nfs.4_3'UTR|PTPMT1_uc001nfv.4_3'UTR|PTPMT1_uc009ylt.3_3'UTR|PTPMT1_uc001nfu.4_3'UTR|NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.2_Frame_Shift_Ins_p.E411fs|KBTBD4_uc001nfz.3_Frame_Shift_Ins_p.E402fs|KBTBD4_uc001nfy.3_Frame_Shift_Ins_p.E386fs	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 4 (KBTBD4), transcript variant 2, mRNA.	386								p.E386fs*4(4)|p.E386E(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						ATCATTCTCCTCCCCCCCTAGT	0.515												
OR1S1	219959	broad.mit.edu	37	11	57982425	57982425	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:57982424_57982424AC>A	uc010rkc.2	+	0	208	c.208_208AC>A	c.(208-210)accfs	p.T70fs		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H69H(1)		breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				GTACCTTCATACCCCCATGTA	0.443												
C11orf9	745	broad.mit.edu	37	11	61539013	61539014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:61539012_61539013T>TC	uc001nsc.1	+	5	877_878	c.781_782T>TC	c.(781-783)tccfs	p.S261fs	C11orf9_uc001nse.1_Frame_Shift_Ins_p.S252fs	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	261	Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S255fs*74(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						GCACTCTGAATCCCCCCCCAGC	0.634												
FADS1	3992	broad.mit.edu	37	11	61578343	61578343	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:61578342_61578342CG>C	uc010rlm.2	-	4	924	c.796_796CG>G	c.(796-798)gccfs	p.A266fs	FADS1_uc001nsh.3_Frame_Shift_Del_p.A125fs|FADS1_uc010rln.1_Frame_Shift_Del_p.A125fs	NM_013402	NP_037534	O60427	FADS1_HUMAN	Homo sapiens fatty acid desaturase 1 (FADS1), mRNA.	209					cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CACCAACTGGCGGGGGCCCCC	0.557												
SNX32	254122	broad.mit.edu	37	11	65617442	65617444	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:65617441_65617443CGAG>C	uc001ofr.3	+	2	319_321	c.192_194CGAG>C	c.(190-195)cacgag>caCg	p.E66del	SNX32_uc009yqt.3_3'UTR|SNX32_uc010rop.1_In_Frame_Del_p.E66del	NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	Homo sapiens sorting nexin 32 (SNX32), mRNA.	66	PX.				cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		TGCGGCAGCACGAGGAGTTCATC	0.645												
SPTBN2	6712	broad.mit.edu	37	11	66457417	66457417	+	Splice_Site	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:66457416_66457416TG>T	uc001ojd.3	-	28	5883	c.5811_splice	c.e28-1	p.R1937_splice	SPTBN2_uc001ojc.1_5'Flank	NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	1937					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GACACATCCCTGGGGGGAGGC	0.627												
OR8D4	338662	broad.mit.edu	37	11	123777442	123777443	+	Frame_Shift_Ins	INS	-	-	T	rs79561639	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr11:123777441_123777442G>GT	uc010saa.2	+	0	303_304	c.303_304G>GT	c.(301-306)ctgtttfs	p.L101fs		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGATTCAGCTGTTTTTTTTCTG	0.436												
KDM5A	5927	broad.mit.edu	37	12	416953	416954	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:416952_416953C>CT	uc001qif.1	-	22	3960_3961	c.3597_3598G>AG	c.(3595-3600)aaaggafs	p.K1199fs		NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	1199					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CAGCTGGATCCTTTTTTTTGGG	0.475			T	NUP98	AML							
FOXM1	2305	broad.mit.edu	37	12	2968088	2968088	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:2968087_2968087AG>A	uc001qlf.3	-	8	2292	c.2009_2009CT>T	c.(2008-2010)cttfs	p.L670fs	LOC100507424_uc021qtc.1_Intron|FOXM1_uc001qle.3_Frame_Shift_Del_p.L708fs|FOXM1_uc009zea.3_Frame_Shift_Del_p.L655fs|FOXM1_uc009zeb.3_Frame_Shift_Del_p.L654fs|FOXM1_uc001qlg.3_Frame_Shift_Del_p.L655fs	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA.	670					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CGGTGATTCAAGGGGGGGAGC	0.582												
ALG10B	144245	broad.mit.edu	37	12	38714473	38714473	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:38714472_38714472CT>C	uc001rln.4	+	2	1018	c.879_879CT>C	c.(877-879)tacfs	p.Y293fs		NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) (ALG10B), mRNA.	293					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AACTATTCTACTTTTTTTCAT	0.343												
KIF21A	55605	broad.mit.edu	37	12	39735929	39735929	+	Splice_Site	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:39735928_39735928TA>T	uc001rly.3	-	13	2133	c.1713_splice	c.e13-1	p.S571_splice	KIF21A_uc001rlw.3_5'Flank|KIF21A_uc001rlx.3_Splice_Site_p.S558_splice|KIF21A_uc001rlz.3_Splice_Site_p.S558_splice|KIF21A_uc010skl.2_Splice_Site_p.S558_splice	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	571					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CCAGCCACACTAAAAAAAGGA	0.333												
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:55615113_55615115ACTT>A	uc010spf.2	+	0	305_307	c.305_307ACTT>A	c.(304-309)tacttc>tAtc	p.F107del		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						ACCCAGATGTACTTCTTCTTCTT	0.414												
GLI1	2735	broad.mit.edu	37	12	57860075	57860075	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:57860074_57860074TG>T	uc001snx.3	+	7	908	c.814_814TG>T	c.(814-816)tggfs	p.W272fs	GLI1_uc021qzi.1_Frame_Shift_Del_p.W231fs|GLI1_uc009zpq.3_Frame_Shift_Del_p.W144fs	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	272					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTG	0.597												
GNS	2799	broad.mit.edu	37	12	65141603	65141604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:65141602_65141603T>TC	uc010ssq.2	-	3	614_615	c.444_445A>GA	c.(442-447)gggaacfs	p.G148fs	GNS_uc001ssf.3_Frame_Shift_Ins_p.G60fs|GNS_uc001ssg.4_Frame_Shift_Ins_p.G116fs|GNS_uc010ssr.2_Frame_Shift_Ins_p.G96fs	NM_002076	NP_002067	P15586	GNS_HUMAN	Homo sapiens glucosamine (N-acetyl)-6-sulfatase (GNS), mRNA.	116						lysosome	N-acetylglucosamine-6-sulfatase activity|metal ion binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		CTACTGCAGTTCCCCTCCAGAG	0.460												
GRIP1	23426	broad.mit.edu	37	12	66788074	66788074	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:66788073_66788073GC>G	uc001stk.3	-	15	2129	c.1888_1888GC>C	c.(1888-1890)cccfs	p.P630fs	GRIP1_uc010sta.1_Frame_Shift_Del_p.P574fs|GRIP1_uc001stj.3_Frame_Shift_Del_p.P412fs|GRIP1_uc001stm.3_Frame_Shift_Del_p.P630fs|GRIP1_uc001stl.1_Frame_Shift_Del_p.P522fs	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	682	PDZ 5.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ATGCCAAGGGGCCCCCCGTAG	0.408												
C12orf51	283450	broad.mit.edu	37	12	112622112	112622120	+	In_Frame_Del	DEL	CCCAGGCTG	CCCAGGCTG	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:112622111_112622119CCCCAGGCTG>C	uc021reb.1	-	60	10645_10653	c.10249_10257CAGCCTGGGG>G	c.(10249-10257)agcctgggg>G	p.SLG3417del		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CCAGGGGCTCCcccaggctgcccaggctg	0.679												
SLC24A6	80024	broad.mit.edu	37	12	113758306	113758306	+	Splice_Site	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:113758305_113758305TG>T	uc001tvc.3	-	7	737	c.527_splice	c.e7-1	p.G176_splice	SLC24A6_uc001tuz.3_5'Flank|SLC24A6_uc001tva.3_Splice_Site|SLC24A6_uc001tvb.3_Intron	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	176					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CGCCAGCGCCTGGGGGGAGGA	0.647												
PRKAB1	5564	broad.mit.edu	37	12	120106124	120106124	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr12:120106123_120106123CG>C	uc009zwu.3	+	1	177	c.74_74CG>C	c.(73-75)tcgfs	p.S25fs	PRKAB1_uc001txg.3_Frame_Shift_Del_p.S25fs	NM_006253	NP_006244	Q9Y478	AAKB1_HUMAN	Homo sapiens protein kinase, AMP-activated, beta 1 non-catalytic subunit (PRKAB1), mRNA.	25					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol		p.T28fs*39(1)		endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	AGGGACAGCTCGGGGGGCACC	0.662												
CENPJ	55835	broad.mit.edu	37	13	25458604	25458604	+	Splice_Site	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:25458603_25458603TA>T	uc001upt.4	-	14	3731	c.3478_splice	c.e14-1	p.V1160_splice	CENPJ_uc010tdf.2_Splice_Site|CENPJ_uc010aaf.3_Splice_Site	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	1160					G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTTTTCCACCTAAAAAACCAA	0.388												
CDX2	1045	broad.mit.edu	37	13	28537278	28537279	+	Frame_Shift_Ins	INS	-	-	C	rs142861632		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:28537277_28537278A>AC	uc001urv.3	-	2	1090_1091	c.916_917T>GT	c.(916-918)gtgfs	p.V306fs		NM_001265	NP_001256	Q99626	CDX2_HUMAN	Homo sapiens caudal type homeobox 2 (CDX2), mRNA.	306					organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		GGGGTTTAGCACCCCCCCAGTT	0.629			T	ETV6	AML							
BRCA2	675	broad.mit.edu	37	13	32913837	32913838	+	Frame_Shift_Ins	INS	-	-	A	rs80358757		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:32913836_32913837C>CA	uc001uub.1	+	10	5571_5572	c.5344_5345C>CA	c.(5344-5346)caafs	p.Q1782fs		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1782					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding	p.N1784fs*7(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGTTGAAGATCAAAAAAACACT	0.322			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)		
PDS5B	23047	broad.mit.edu	37	13	33344568	33344568	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:33344567_33344567TA>T	uc010abf.3	+	31	4119	c.3933_3933TA>T	c.(3931-3933)tctfs	p.S1311fs	PDS5B_uc010abg.3_Non-coding_Transcript	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	1311					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TGAAAACTTCTAAAAAAGGAA	0.423												
RB1	5925	broad.mit.edu	37	13	49030368	49030368	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:49030367_49030367GA>G	uc001vcb.3	+	18	2008	c.1842_1842GA>G	c.(1840-1842)aagfs	p.K614fs		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	614	Pocket; binds T and E1A.|Spacer.				G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(10)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GATCTCCAAAGAAAAAAGGTT	0.378		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)		
GAS6	2621	broad.mit.edu	37	13	114523858	114523858	+	Frame_Shift_Del	DEL	G	G	-	rs77565607		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr13:114523857_114523857CG>C	uc001vug.3	-	6	2172	c.1120_1120CG>G	c.(1120-1122)gtgfs	p.V374fs	GAS6_uc001vud.3_Frame_Shift_Del_p.V673fs|GAS6_uc001vuf.3_Frame_Shift_Del_p.V400fs	NM_001143946	NP_001137418	Q14393	GAS6_HUMAN	Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 3, mRNA.	716	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	Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	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)				GCGGGCTCCACGGGGGGGCAG	0.706												
HOMEZ	57594	broad.mit.edu	37	14	23745847	23745848	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:23745846_23745847ACT>A	uc001wja.2	-	1	738_739	c.590_591AGT>T	c.(589-591)agtfs	p.S197fs	HOMEZ_uc001wjb.2_Frame_Shift_Del_p.S199fs	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN	Homo sapiens homeobox and leucine zipper encoding (HOMEZ), mRNA.	197						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ATTTCTGGTGACTCTGTGGCAG	0.505												
SEC23A	10484	broad.mit.edu	37	14	39508238	39508238	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:39508237_39508237GC>G	uc001wup.1	-	18	2429	c.2206_2206GC>C	c.(2206-2208)cagfs	p.Q736fs	SEC23A_uc010tqa.1_Frame_Shift_Del_p.Q622fs|SEC23A_uc010tqb.1_Frame_Shift_Del_p.Q707fs	NM_006364	NP_006355	Q15436	SC23A_HUMAN	Homo sapiens Sec23 homolog A (S. cerevisiae) (SEC23A), mRNA.	736					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AAACTTACCTGCCCCCAGGCA	0.318												
C14orf28	122525	broad.mit.edu	37	14	45370058	45370059	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:45370057_45370058C>CA	uc001wvo.3	+	1	685_686	c.419_420C>CA	c.(418-420)acafs	p.T140fs	C14orf28_uc001wvp.1_Frame_Shift_Ins_p.T140fs	NM_001017923	NP_001017923	Q4W4Y0	CN028_HUMAN	Homo sapiens chromosome 14 open reading frame 28 (C14orf28), mRNA.	140										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						GATAATTTTACAAAAAATCTTG	0.371												
KTN1	3895	broad.mit.edu	37	14	56137475	56137475	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:56137474_56137474GA>G	uc001xcb.3	+	35	3597	c.3295_3295GA>G	c.(3295-3297)gaafs	p.E1099fs	KTN1_uc001xcc.3_Frame_Shift_Del_p.E1099fs|KTN1_uc001xcd.3_Frame_Shift_Del_p.E1076fs|KTN1_uc001xce.3_Frame_Shift_Del_p.E1070fs|KTN1_uc010trb.2_Frame_Shift_Del_p.E1099fs|KTN1_uc001xcf.1_Frame_Shift_Del_p.E1076fs|KTN1_uc010aoq.3_Frame_Shift_Del_p.E365fs|KTN1_uc010trc.2_Frame_Shift_Del_p.E104fs|KTN1_uc001xcg.3_Frame_Shift_Del_p.E60fs	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	Homo sapiens kinectin 1 (kinesin receptor) (KTN1), transcript variant 1, mRNA.	1099					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GCATGGATTTGAAAAAAAGGC	0.318			T	RET	papillary thryoid							
OTX2	5015	broad.mit.edu	37	14	57271049	57271049	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:57271048_57271048CG>C	uc001xcq.3	-	3	405	c.131_131CG>G	c.(130-132)cggfs	p.R44fs	OTX2_uc001xcp.3_Frame_Shift_Del_p.R36fs|OTX2_uc021rtm.1_Intron|OTX2_uc010aou.3_Frame_Shift_Del_p.R36fs	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	36					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding	p.R44fs*52(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GCGCTGTTTCCGGGGGGTGGC	0.632												
KCNH5	27133	broad.mit.edu	37	14	63174303	63174303	+	Frame_Shift_Del	DEL	G	G	-	rs35940222		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:63174302_63174302TG>T	uc001xfx.3	-	10	2942	c.2891_2891CA>A	c.(2890-2892)cagfs	p.Q964fs	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	964					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATGGTATCTGGGGGGGTAC	0.388												
ZFYVE26	23503	broad.mit.edu	37	14	68215185	68215185	+	Frame_Shift_Del	DEL	G	G	-	rs36063417		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:68215184_68215184CG>C	uc001xka.2	-	41	7728	c.7589_7589CG>G	c.(7588-7590)cggfs	p.R2530fs	ZFYVE26_uc010tsz.1_Non-coding_Transcript	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	2530					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		ATGGGCACCCCGGGGGTGGCT	0.652												
LTBP2	4053	broad.mit.edu	37	14	75017918	75017918	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr14:75017917_75017917CG>C	uc001xqa.3	-	6	1923	c.1536_1536CG>G	c.(1534-1536)ccgfs	p.P512fs		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	512					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.P512P(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCAGCCAGGGCGGGGGTCTGG	0.701												
ATP10A	57194	broad.mit.edu	37	15	25924712	25924712	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:25924711_25924711AG>A	uc010ayu.3	-	20	4383	c.4277_4277CT>T	c.(4276-4278)ctgfs	p.L1426fs		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	1426					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GAGGGAAGACAGGGGGGTCAC	0.622												
RYR3	6263	broad.mit.edu	37	15	34145819	34145819	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:34145818_34145818CA>C	uc001zhi.3	+	95	13804	c.13734_13734CA>C	c.(13732-13734)gacfs	p.D4578fs	RYR3_uc010bar.3_Frame_Shift_Del_p.D4573fs	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	4578					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGGTTTGGACAAAAATGCTC	0.478												
THBS1	7057	broad.mit.edu	37	15	39874929	39874929	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:39874928_39874928AG>A	uc001zkh.3	+	2	781	c.602_602AG>A	c.(601-603)aagfs	p.K201fs		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	201	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CGCATCGCAAAGGGGGGCGTC	0.557												
DISP2	85455	broad.mit.edu	37	15	40660038	40660039	+	Frame_Shift_Ins	INS	-	-	G	rs75662097	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:40660037_40660038C>CG	uc001zlk.1	+	7	1813_1814	c.1724_1725C>CG	c.(1723-1725)tcgfs	p.S575fs		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	575	SSD.				smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CAGCTGCCGTCGGGGGGGCTGG	0.663												
CASC5	57082	broad.mit.edu	37	15	40912977	40912978	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:40912976_40912977G>GA	uc010bbs.1	+	10	753_754	c.592_593G>GA	c.(592-594)gaafs	p.E198fs	CASC5_uc010ucq.1_Frame_Shift_Ins_p.E22fs|CASC5_uc001zme.3_Frame_Shift_Ins_p.E172fs|CASC5_uc010bbt.1_Frame_Shift_Ins_p.E172fs	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	198	Interaction with BUB1 and BUB1B.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TCCCATAAGTGAAAAGTCCACC	0.361												
VPS18	57617	broad.mit.edu	37	15	41191837	41191837	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:41191836_41191836AC>A	uc001zne.3	+	3	1159	c.820_820AC>A	c.(820-822)accfs	p.T274fs		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.	274					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGCCTTCTACACCCCCAAGCT	0.622												
TTBK2	146057	broad.mit.edu	37	15	43044817	43044817	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:43044816_43044816AT>A	uc001zqo.2	-	13	3067	c.2628_2628AT>T	c.(2626-2628)aatfs	p.N876fs	TTBK2_uc010bcy.2_Frame_Shift_Del_p.N807fs	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	876					cell death		ATP binding|protein serine/threonine kinase activity	p.N876fs*2(1)		NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TAGATATCTTATTTTTTTGCA	0.408												
TP53BP1	7158	broad.mit.edu	37	15	43748297	43748297	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:43748296_43748296TG>T	uc001zrs.3	-	11	2643	c.2495_2495CA>A	c.(2494-2496)cagfs	p.Q832fs	TP53BP1_uc010udp.2_Frame_Shift_Del_p.Q832fs|TP53BP1_uc001zrq.4_Frame_Shift_Del_p.Q837fs|TP53BP1_uc001zrr.4_Frame_Shift_Del_p.Q837fs|TP53BP1_uc010udq.1_Frame_Shift_Del_p.Q837fs	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	832					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	p.Q832Q(1)		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)		TAAGGAAGGCTGTGAAGAATC	0.413								Other conserved DNA damage response genes				
UNC13C	440279	broad.mit.edu	37	15	54527276	54527277	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:54527275_54527276G>GA	uc021smr.1	+	3	3119_3120	c.3119_3120G>GA	c.(3118-3120)agafs	p.R1040fs	UNC13C_uc021sms.1_Frame_Shift_Ins_p.R1040fs	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1040					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.R1039G(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GATCTTCGCAGAAAAAAAACTT	0.366												
AKAP13	11214	broad.mit.edu	37	15	86287017	86287017	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:86287016_86287016GA>G	uc002blv.1	+	35	8522	c.8352_8352GA>G	c.(8350-8352)gagfs	p.E2784fs	AKAP13_uc002blu.1_Frame_Shift_Del_p.E2788fs|AKAP13_uc002blw.1_Frame_Shift_Del_p.E1249fs|AKAP13_uc002blx.1_Frame_Shift_Del_p.E1029fs	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	2784	Interaction with ESR1.|Poly-Lys.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AAAAGAAGGAGAAAAAAAAGA	0.547												
C15orf32	145858	broad.mit.edu	37	15	93015505	93015505	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr15:93015504_93015504TC>T	uc002brc.1	+	0	598	c.126_126TC>T	c.(124-126)gctfs	p.A42fs	C15orf32_uc010bod.1_Non-coding_Transcript	NM_153040	NP_694585	Q32M92	CO032_HUMAN	Homo sapiens chromosome 15 open reading frame 32 (C15orf32), mRNA.	42										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			AAGGAACGGCTCCCCCTTTCT	0.542												
CREBBP	1387	broad.mit.edu	37	16	3777898	3777898	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:3777897_3777897TG>T	uc002cvv.3	-	30	7355	c.7151_7151CA>A	c.(7150-7152)cacfs	p.H2384fs	CREBBP_uc002cvw.3_Frame_Shift_Del_p.H2346fs	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	2384					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.H2384Q(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GAGTCCGGGGTGGGGGGAACC	0.647			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome					
TNRC6A	27327	broad.mit.edu	37	16	24762058	24762060	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:24762057_24762059CAAG>C	uc002dmm.3	+	2	178_180	c.64_66CAAG>C	c.(64-66)caa>C	p.Q22del		NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	22					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GGATTTAGTGCaagaagaagaac	0.310												
OGFOD1	55239	broad.mit.edu	37	16	56485630	56485630	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr16:56485629_56485629GA>G	uc002ejb.3	+	0	206	c.105_105GA>G	c.(103-105)ttgfs	p.L35fs	OGFOD1_uc002ejc.3_Intron|NUDT21_uc002eja.3_5'Flank	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN	Homo sapiens 2-oxoglutarate and iron-dependent oxygenase domain containing 1 (OGFOD1), mRNA.	35							L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	AAGAAACCTTGAAAAAGCAGG	0.627												
KIAA0664	23277	broad.mit.edu	37	17	2601713	2601713	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:2601712_2601712TC>T	uc002fuy.1	-	9	1411	c.1325_1325GA>A	c.(1324-1326)gacfs	p.D442fs	KIAA0664_uc002fux.1_Frame_Shift_Del_p.D374fs	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	442							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						GGCCGCCACGTCCCCCCCGAA	0.622												
NT5M	56953	broad.mit.edu	37	17	17250190	17250190	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:17250189_17250189GC>G	uc002grf.3	+	4	800	c.615_615GC>G	c.(613-615)cagfs	p.Q205fs	NT5M_uc002grg.3_Frame_Shift_Del_p.Q211fs	NM_020201	NP_064586	Q9NPB1	NT5M_HUMAN	Homo sapiens 5',3'-nucleotidase, mitochondrial (NT5M), nuclear gene encoding mitochondrial protein, mRNA.	205					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding	p.L204P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TGCAGCTGCAGCCCCCCCGCC	0.672												
MYO15A	51168	broad.mit.edu	37	17	18023293	18023293	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:18023292_18023292AC>A	uc021trm.1	+	0	1397	c.1178_1178AC>A	c.(1177-1179)tacfs	p.Y393fs	MYO15A_uc021trl.1_Frame_Shift_Del_p.Y393fs	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	393	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GAGGCCATCTACCCCCCCGAG	0.617												
CRYBA1	1411	broad.mit.edu	37	17	27577216	27577218	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:27577215_27577217CAGG>C	uc002hdw.3	+	2	119_121	c.112_114CAGG>C	c.(112-114)cag>C	p.Q38del		NM_005208	NP_005199	P05813	CRBA1_HUMAN	Homo sapiens crystallin, beta A1 (CRYBA1), mRNA.	38	Beta/gamma crystallin 'Greek key' 1.				visual perception	soluble fraction	structural constituent of eye lens			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CATCTATGATCAGGAGAACTTTC	0.473												
XYLT2	64132	broad.mit.edu	37	17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TATGGCAGCTACCCCCCCGGC	0.602												
SCPEP1	59342	broad.mit.edu	37	17	55078244	55078246	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:55078243_55078245TGGA>T	uc002iuv.4	+	10	1075_1077	c.1022_1024TGGA>T	c.(1021-1026)atggag>aTag	p.341_342ME>I	SCPEP1_uc010dcl.3_Non-coding_Transcript|SCPEP1_uc010wnk.2_In_Frame_Del_p.291_292ME>I	NM_021626	NP_067639	Q9HB40	RISC_HUMAN	Homo sapiens serine carboxypeptidase 1 (SCPEP1), mRNA.	341					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					TTTGTGAACATGGAGGAGGACTT	0.517												
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	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												
TEX14	56155	broad.mit.edu	37	17	56642289	56642289	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:56642288_56642288CT>C	uc010dcz.2	-	28	4262	c.4144_4144AG>G	c.(4144-4146)gaafs	p.E1382fs	TEX14_uc002iwr.2_Frame_Shift_Del_p.E1376fs|TEX14_uc002iws.2_Frame_Shift_Del_p.E1336fs|TEX14_uc010dda.2_Frame_Shift_Del_p.E1116fs	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	1382						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTACTATCTTCTTTTTTACTG	0.328												
DDX5	1655	broad.mit.edu	37	17	62496298	62496298	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:62496297_62496297GT>G	uc010deh.2	-	12	1632	c.1589_1589AC>C	c.(1588-1590)actfs	p.T530fs	DDX5_uc002jek.2_Frame_Shift_Del_p.T530fs|DDX5_uc002jej.2_Frame_Shift_Del_p.T425fs|DDX5_uc010wqa.1_Frame_Shift_Del_p.T451fs	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.	530					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|mRNA binding|protein binding|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			ACCATTCTGAGTTTTTGCCCC	0.413			T	ETV4	prostate							
SLC16A6	9120	broad.mit.edu	37	17	66270150	66270151	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:66270149_66270150G>GC	uc002jha.2	-	3	607_608	c.294_295C>GC	c.(292-297)gggctafs	p.G98fs	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jgz.2_Frame_Shift_Ins_p.G98fs	NM_001174166	NP_004685	O15403	MOT7_HUMAN	Homo sapiens solute carrier family 16, member 6 (monocarboxylic acid transporter 7) (SLC16A6), transcript variant 1, mRNA.	98						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CTGACAAGTAGCCCCCCCAACA	0.535												
ABCA5	23461	broad.mit.edu	37	17	67260957	67260957	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:67260956_67260956TA>T	uc002jif.2	-	22	4453	c.3235_3235TA>A	c.(3235-3237)atcfs	p.I1079fs	ABCA5_uc002jib.2_Frame_Shift_Del_p.I45fs|ABCA5_uc002jic.2_Frame_Shift_Del_p.I302fs|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Frame_Shift_Del_p.I1079fs	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1079					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					ATAAGAATGATAAAAAATAAG	0.308												
GAA	2548	broad.mit.edu	37	17	78091429	78091429	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:78091428_78091428AC>A	uc002jxp.3	+	16	2728	c.2361_2361AC>A	c.(2359-2361)ccafs	p.P787fs	GAA_uc002jxo.3_Frame_Shift_Del_p.P787fs|GAA_uc002jxq.3_Frame_Shift_Del_p.P787fs	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	787					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GCAGCCTCCCACCCCCACCTG	0.677												
ARL16	339231	broad.mit.edu	37	17	79650094	79650094	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr17:79650093_79650093AC>A	uc002kbf.3	-	2	355	c.256_256GT>T	c.(256-258)tgcfs	p.C86fs	ARL16_uc021ufd.1_Frame_Shift_Del_p.G36fs|HGS_uc010wus.2_5'Flank|HGS_uc002kbg.3_5'Flank	NM_001040025	NP_001035114	Q0P5N6	ARL16_HUMAN	Homo sapiens ADP-ribosylation factor-like 16 (ARL16), mRNA.	86							GTP binding			central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GGGCCCATGCACCCCCCAAGC	0.483												
DLGAP1	9229	broad.mit.edu	37	18	3879415	3879415	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:3879414_3879414AG>A	uc002kmf.3	-	3	1182	c.655_655CT>T	c.(655-657)tcgfs	p.S219fs	DLGAP1_uc010wyz.2_Frame_Shift_Del_p.S219fs|DLGAP1_uc002kmk.2_Frame_Shift_Del_p.S219fs|LOC201477_uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	219					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.S219W(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				ATCACGCCCGAGGGGGCGTGG	0.692												
FHOD3	80206	broad.mit.edu	37	18	34205516	34205516	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:34205515_34205515AC>A	uc021uiv.1	+	9	1096	c.999_999AC>A	c.(997-999)ccafs	p.P333fs	FHOD3_uc002kzr.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzt.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzu.1_Frame_Shift_Del_p.P158fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.P86fs	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	333	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CCACGGAGCCACCCCCCAGTG	0.677												
SYT4	6860	broad.mit.edu	37	18	40857246	40857246	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr18:40857245_40857245AT>A	uc002law.3	-	0	371	c.2_2AT>T	c.(1-3)atgfs	p.M1fs	SYT4_uc010dng.3_Intron|SYT4_uc010xcm.2_Frame_Shift_Del_p.M1fs	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	1						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GATCGGAGCCATTTTTTACTG	0.493												
ZNF358	140467	broad.mit.edu	37	19	7584517	7584517	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:7584516_7584516AC>A	uc002mgn.2	+	1	558	c.388_388AC>A	c.(388-390)accfs	p.T130fs	ZNF358_uc021unu.1_Frame_Shift_Del_p.T130fs|MCOLN1_uc010dvh.2_5'Flank|MCOLN1_uc002mgo.3_5'Flank|MCOLN1_uc002mgp.3_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	Homo sapiens zinc finger protein 358 (ZNF358), mRNA.	130					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CCTCACTGCCACCCCCCAGGT	0.697												
FDX1L	112812	broad.mit.edu	37	19	10426107	10426107	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:10426106_10426106TC>T	uc002mny.1	-	2	282	c.263_263GA>A	c.(262-264)gacfs	p.D88fs	FDX1L_uc002mnx.1_Non-coding_Transcript	NM_001031734	NP_001026904	Q6P4F2	ADXL_HUMAN	Homo sapiens ferredoxin 1-like (FDX1L), nuclear gene encoding mitochondrial protein, mRNA.	88	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			AAGAACATTGTCCCCGACTCT	0.557												
NOTCH3	4854	broad.mit.edu	37	19	15302821	15302821	+	Frame_Shift_Del	DEL	C	C	-	rs61336539		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:15302820_15302820GC>G	uc002nan.3	-	3	706	c.630_630GC>C	c.(628-630)ggcfs	p.G210fs	NOTCH3_uc002nao.1_Frame_Shift_Del_p.G210fs	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	210	EGF-like 5.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCCTGCAGGTGCCCCCGTTAC	0.642												
ZNF30	90075	broad.mit.edu	37	19	35435665	35435665	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:35435664_35435664CA>C	uc010edq.1	+	4	2175	c.1797_1797CA>C	c.(1795-1797)tgcfs	p.C599fs	ZNF30_uc002nxf.2_Frame_Shift_Del_p.C517fs|ZNF30_uc010edp.1_Frame_Shift_Del_p.C598fs|ZNF30_uc010edr.1_Frame_Shift_Del_p.C599fs	NM_001099437	NP_001092908	P17039	ZNF30_HUMAN	Homo sapiens zinc finger protein 30 (ZNF30), transcript variant 2, mRNA.	598					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		CCTTTAAATGCAAAAAATGTG	0.408												
ARHGAP33	115703	broad.mit.edu	37	19	36271669	36271669	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:36271668_36271668GC>G	uc002obs.2	+	9	923	c.779_779GC>G	c.(778-780)ggcfs	p.G260fs	ARHGAP33_uc002obr.2_Frame_Shift_Del_p.G260fs|ARHGAP33_uc002obt.2_Frame_Shift_Del_p.G124fs|ARHGAP33_uc002obv.1_5'Flank	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	260					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GATGCCGATGGCCCCCCATGT	0.632												
MEGF8	1954	broad.mit.edu	37	19	42847703	42847703	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:42847702_42847702TG>T	uc002otl.4	+	8	2222	c.1587_1587TG>T	c.(1585-1587)gctfs	p.A529fs	MEGF8_uc002otm.4_Frame_Shift_Del_p.A70fs	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	529						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGTTGGTGGCTGGGGGGTACA	0.642												
ZNF233	353355	broad.mit.edu	37	19	44778628	44778629	+	Frame_Shift_Del	DEL	AT	AT	-	rs146078644	byFrequency	TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:44778627_44778628CAT>C	uc021uvi.1	+	4	1920_1921	c.1814_1815CAT>C	c.(1813-1815)tcafs	p.S605fs	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF233_uc002oyy.2_Frame_Shift_Del_p.S420fs|ZNF233_uc002oyz.2_Frame_Shift_Del_p.S605fs	NM_001207005	NP_001193934	A6NK53	ZN233_HUMAN	Homo sapiens zinc finger protein 233 (ZNF233), transcript variant 2, mRNA.	605					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S605L(2)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				ATCTGGAACTCATATCTTCATG	0.450												
NR1H2	7376	broad.mit.edu	37	19	50880894	50880895	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:50880893_50880894A>AC	uc010enw.3	+	2	500_501	c.31_32A>AC	c.(31-33)accfs	p.T11fs	NR1H2_uc002prv.4_Non-coding_Transcript|NR1H2_uc002psa.4_Frame_Shift_Ins_p.T11fs	NM_007121	NP_009052	P55055	NR1H2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 2 (NR1H2), mRNA.	11					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TTCCCTGGATACCCCCCTGCCT	0.564												
MYBPC2	4606	broad.mit.edu	37	19	50957532	50957533	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:50957531_50957532A>AC	uc002psf.2	+	17	1970_1971	c.1919_1920A>AC	c.(1918-1920)gacfs	p.D640fs		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	640	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GATGTCCCAGACCCCCCGGAGG	0.639												
LILRB1	10859	broad.mit.edu	37	19	55143507	55143509	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:55143506_55143508GAGA>G	uc002qgj.3	+	5	819_821	c.479_481GAGA>G	c.(478-483)ggagaa>gGaa	p.E161del	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_In_Frame_Del_p.E161del|LILRB1_uc002qgk.3_In_Frame_Del_p.E161del|LILRB1_uc002qgm.3_In_Frame_Del_p.E161del|LILRB1_uc010erq.3_In_Frame_Del_p.E161del|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	161	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TGTAAGGAAGGAGAAGATGAACA	0.606										HNSCC(37;0.09)		
ZIM3	114026	broad.mit.edu	37	19	57647457	57647457	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:57647456_57647456AT>A	uc002qnz.1	-	4	635	c.249_249AT>T	c.(247-249)aatfs	p.N83fs		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAATGTCCCCATTTTTTTCTA	0.383												
VN1R1	57191	broad.mit.edu	37	19	57967320	57967320	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr19:57967319_57967319TG>T	uc002qos.2	-	0	789	c.536_536CA>A	c.(535-537)catfs	p.H179fs		NM_020633	NP_065684	Q9GZP7	VN1R1_HUMAN	Homo sapiens vomeronasal 1 receptor 1 (VN1R1), mRNA.	179					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		CATCAAGACATGGGGGGCCCA	0.423												
BMP2	650	broad.mit.edu	37	20	6759174	6759174	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:6759173_6759173AC>A	uc002wmu.1	+	2	1413	c.628_628AC>A	c.(628-630)accfs	p.T210fs		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	210					BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	TTTTGATGTCACCCCCGCTGT	0.527												
RBM12	10137	broad.mit.edu	37	20	34240741	34240746	+	In_Frame_Del	DEL	GGGCCG	GGGCCG	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:34240740_34240745AGGGCCG>A	uc021wcr.1	-	0	2500_2505	c.2500_2505CGGCCCT>T	c.(2500-2505)ggccct>T	p.GP836del	CPNE1_uc010zvj.2_Intron|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_In_Frame_Del_p.GP836del|RBM12_uc002xds.3_In_Frame_Del_p.GP836del|RBM12_uc002xdr.3_In_Frame_Del_p.GP836del|RBM12_uc021wcq.1_In_Frame_Del_p.GP836del	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA.	836	Gly-rich.|Pro-rich.					nucleus	RNA binding|nucleotide binding|protein binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GGATTgggccagggccggggccgggg	0.602												
SNX21	90203	broad.mit.edu	37	20	44469908	44469909	+	Frame_Shift_Ins	INS	-	-	C	rs11477383		TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:44469907_44469908A>AC	uc002xpv.1	+	3	1166_1167	c.1077_1078A>AC	c.(1075-1080)ccacccfs	p.P359fs	SNX21_uc002xpt.1_3'UTR|SNX21_uc002xps.1_Intron|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpw.1_Frame_Shift_Ins_p.P170fs|SNX21_uc010zxd.1_3'UTR|SNX21_uc002xpy.1_Frame_Shift_Ins_p.P170fs|SNX21_uc002xpz.1_Frame_Shift_Ins_p.P170fs	NM_033421	NP_219489	Q969T3	SNX21_HUMAN	Homo sapiens sorting nexin family member 21 (SNX21), transcript variant 1, mRNA.	359					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	p.T358S(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				CCCCCACACCACCCCCCAGTCT	0.614												
SULF2	55959	broad.mit.edu	37	20	46290538	46290538	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:46290537_46290537CG>C	uc002xto.3	-	17	2804	c.2474_2474CG>G	c.(2473-2475)cggfs	p.R825fs	SULF2_uc002xtr.3_Frame_Shift_Del_p.R825fs|SULF2_uc002xtq.3_Frame_Shift_Del_p.R825fs|SULF2_uc010zyd.2_Frame_Shift_Del_p.R104fs	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	825					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding	p.R825Q(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GTTTCGAGTCCGGGGGTTACA	0.562												
STAU1	6780	broad.mit.edu	37	20	47739699	47739699	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:47739698_47739698CT>C	uc002xud.3	-	7	1308	c.897_897AG>G	c.(895-897)aagfs	p.K299fs	STAU1_uc002xua.3_Frame_Shift_Del_p.K218fs|STAU1_uc002xub.3_Frame_Shift_Del_p.K224fs|STAU1_uc002xuc.3_Frame_Shift_Del_p.K218fs|STAU1_uc002xue.3_Frame_Shift_Del_p.K218fs|STAU1_uc002xuf.3_Frame_Shift_Del_p.K224fs|STAU1_uc002xug.3_Frame_Shift_Del_p.K299fs	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	299	DRBM 3.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GCTCCTTCTCCTTTTTTGCCT	0.587												
ADNP	23394	broad.mit.edu	37	20	49509400	49509401	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:49509399_49509400C>CT	uc002xvt.1	-	4	2196_2197	c.1851_1852G>AG	c.(1849-1854)aaagatfs	p.K617fs	ADNP_uc002xvu.1_Frame_Shift_Ins_p.K617fs	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	617						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TTCCCAACATCTTTTTTATAGG	0.426												
CASS4	57091	broad.mit.edu	37	20	55012423	55012423	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:55012422_55012422GC>G	uc002xxp.2	+	2	464	c.239_239GC>G	c.(238-240)tgcfs	p.C80fs	CASS4_uc002xxq.4_Frame_Shift_Del_p.C80fs|CASS4_uc010zze.1_Frame_Shift_Del_p.C80fs|CASS4_uc002xxr.2_Frame_Shift_Del_p.C80fs|CASS4_uc010gio.2_Frame_Shift_Del_p.C80fs	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	80					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GACAGGCCGTGCCCCCCATTC	0.632												
ARFRP1	10139	broad.mit.edu	37	20	62331956	62331957	+	Splice_Site	DEL	TG	TG	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr20:62331955_62331956CTG>C	uc002ygf.3	-	7	661	c.518_splice	c.e7+1	p.G173_splice	ARFRP1_uc002yga.3_Splice_Site_p.G173_splice|ARFRP1_uc011abf.2_3'UTR|ARFRP1_uc002ygh.4_Frame_Shift_Del_p.T172fs|ARFRP1_uc002ygc.3_Splice_Site_p.G173_splice|ARFRP1_uc011abg.2_Frame_Shift_Del_p.T172fs|ARFRP1_uc011abh.2_Splice_Site	NM_003224	NP_003215	Q13795	ARFRP_HUMAN	Homo sapiens ADP-ribosylation factor related protein 1 (ARFRP1), transcript variant 1, mRNA.	173					small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			CCCACTCACCCTGTGAGGGCCG	0.658												
GCFC1	94104	broad.mit.edu	37	21	34131467	34131467	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr21:34131466_34131466AC>A	uc002yqn.3	-	6	1498	c.1308_1308GT>T	c.(1306-1308)ggtfs	p.G436fs	GCFC1_uc002yqm.3_5'Flank|GCFC1_uc002yqo.3_Non-coding_Transcript|GCFC1_uc002yqp.3_Frame_Shift_Del_p.G436fs	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	Homo sapiens GC-rich sequence DNA-binding factor 1 (GCFC1), transcript variant 1, mRNA.	436						cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(11)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	39						GTTCACCAATACCCCCAGAAG	0.408												
CCT8L2	150160	broad.mit.edu	37	22	17073165	17073166	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:17073164_17073165C>CT	uc002zlp.1	-	0	536_537	c.276_277G>AG	c.(274-279)gaagcafs	p.E92fs		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	92					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity	p.R91L(1)|p.R91W(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTTTGTCCTGCTTCCCGGAGGA	0.614												
OSBP2	23762	broad.mit.edu	37	22	31289120	31289121	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:31289119_31289120A>AC	uc003aiy.1	+	8	1984_1985	c.1880_1881A>AC	c.(1879-1881)cacfs	p.H627fs	OSBP2_uc011ala.1_Frame_Shift_Ins_p.H461fs|OSBP2_uc010gwc.1_Frame_Shift_Ins_p.H454fs|OSBP2_uc011alb.1_Frame_Shift_Ins_p.H578fs|OSBP2_uc003aiz.1_Frame_Shift_Ins_p.H626fs|OSBP2_uc003aja.1_Frame_Shift_Ins_p.H260fs|OSBP2_uc011alc.2_Frame_Shift_Ins_p.H369fs|OSBP2_uc011ald.1_Frame_Shift_Ins_p.H171fs|OSBP2_uc010gwd.1_Frame_Shift_Ins_p.H172fs	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	627					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GTGAGCCACCACCCCCCCTCAG	0.594												
SYN3	8224	broad.mit.edu	37	22	32924872	32924873	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:32924871_32924872A>AG	uc003amx.3	-	9	1381_1382	c.1219_1220T>CT	c.(1219-1221)ctcfs	p.L407fs	SYN3_uc003amy.3_Frame_Shift_Ins_p.L407fs|SYN3_uc003amz.3_Frame_Shift_Ins_p.L406fs|SYN3_uc011amc.1_Frame_Shift_Ins_p.L41fs	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	407	J; Pro-rich linker.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CCAAGGTCTGAGGGGGGAGGGC	0.559											OREG0026488	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TSPO	706	broad.mit.edu	37	22	43557100	43557101	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chr22:43557099_43557100CAG>C	uc003bdn.3	+	2	329_330	c.224_225CAG>C	c.(223-225)acafs	p.T75fs	TSPO_uc003bdo.3_5'UTR	NM_000714	NP_000705	B1AH88	TSPOB_HUMAN	Homo sapiens translocator protein (18kDa) (TSPO), transcript variant PBR, mRNA.	28										endometrium(1)|prostate(1)	2		Ovarian(80;0.0694)				GGAGGCTTCACAGAGAAGGCTG	0.599												
SMPX	23676	broad.mit.edu	37	X	21772423	21772423	+	Splice_Site	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:21772422_21772422TA>T	uc004daa.3	-	2	220	c.-11_splice	c.e2-1		SMPX_uc022btv.1_Splice_Site	NM_014332	NP_055147	Q9UHP9	SMPX_HUMAN	Homo sapiens small muscle protein, X-linked (SMPX), transcript variant 1, mRNA.						striated muscle contraction					breast(1)|endometrium(1)	2						GTCTTATCCCTAAAAAAACAA	0.408												
BTK	695	broad.mit.edu	37	X	100617587	100617587	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:100617586_100617586AT>A	uc010nno.2	-	5	818	c.585_585AT>T	c.(583-585)aatfs	p.N195fs	BTK_uc004ehg.2_Frame_Shift_Del_p.N161fs|BTK_uc010nnn.2_Frame_Shift_Del_p.N161fs|BTK_uc004ehi.3_Frame_Shift_Del_p.N161fs	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	161					calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	p.E194D(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGCCCATAGCATTTTTGGCTG	0.443									Agammaglobulinemia, X-linked			
IRS4	8471	broad.mit.edu	37	X	107977803	107977804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:107977802_107977803G>GC	uc004eoc.2	-	0	1805_1806	c.1772_1773C>GC	c.(1771-1773)ggcfs	p.G591fs		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	591						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545												
HTATSF1	27336	broad.mit.edu	37	X	135593604	135593604	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4368-01A-01D-1158-08	TCGA-BR-4368-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f320a44-6403-4052-a943-34da7c12efd4	c4eb03db-0517-4ea5-af47-2b5bd1dc43af	g.chrX:135593603_135593603GA>G	uc004ezw.3	+	9	2121	c.1699_1699GA>G	c.(1699-1701)gaafs	p.E567fs	HTATSF1_uc004ezx.3_Frame_Shift_Del_p.E567fs	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	567	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AGAATTTGAAGAAAATGGTCT	0.408												
